What treatment for a child with tall stature?

PubMed

Edouard, Thomas

2017-06-01

Tall stature is statistically defined as a height standard deviation score (SDS) above 2 for a given age, sex and population group. The most common cause of tall stature is constitutional (often familial) tall stature. However, underlying endocrine or genetic disorders must be considered as some of them may require specific treatment or management. In constitutional tall stature, healthy children are referred to discuss treatment aiming at reducing adult height. The indications of treatment are rare and usually discussed in girls with extremely tall stature (height SDS>4, corresponding to 185cm in girls). The treatment options for tall children are limited and concerns have been raised about their long-term safety. Indeed, recent studies have suggested that high-dose estrogens in adolescent girls may be associated with an increased risk of infertility, as well as increased risk of cancer. Surgical epiphysiodesis has also been reported to reduce adult height but this invasive procedure in healthy children can be questionable and further data on its safety profile are required. Copyright © 2017. Published by Elsevier Masson SAS.

Stature estimation from complete long bones in the Middle Pleistocene humans from the Sima de los Huesos, Sierra de Atapuerca (Spain).

PubMed

Carretero, José-Miguel; Rodríguez, Laura; García-González, Rebeca; Arsuaga, Juan-Luis; Gómez-Olivencia, Asier; Lorenzo, Carlos; Bonmatí, Alejandro; Gracia, Ana; Martínez, Ignacio; Quam, Rolf

2012-02-01

Systematic excavations at the site of the Sima de los Huesos (SH) in the Sierra de Atapuerca (Burgos, Spain) have allowed us to reconstruct 27 complete long bones of the human species Homo heidelbergensis. The SH sample is used here, together with a sample of 39 complete Homo neanderthalensis long bones and 17 complete early Homo sapiens (Skhul/Qafzeh) long bones, to compare the stature of these three different human species. Stature is estimated for each bone using race- and sex-independent regression formulae, yielding an average stature for each bone within each taxon. The mean length of each long bone from SH is significantly greater (p < 0.05) than the corresponding mean values in the Neandertal sample. The stature has been calculated for male and female specimens separately, averaging both means to calculate a general mean. This general mean stature for the entire sample of long bones is 163.6 cm for the SH hominins, 160.6 cm for Neandertals and 177.4 cm for early modern humans. Despite some overlap in the ranges of variation, all mean values in the SH sample (whether considering isolated bones, the upper or lower limb, males or females or more complete individuals) are larger than those of Neandertals. Given the strong relationship between long bone length and stature, we conclude that SH hominins represent a slightly taller population or species than the Neandertals. However, compared with living European Mediterranean populations, neither the Sima de los Huesos hominins nor the Neandertals should be considered 'short' people. In fact, the average stature within the genus Homo seems to have changed little over the course of the last two million years, since the appearance of Homo ergaster in East Africa. It is only with the emergence of H. sapiens, whose earliest representatives were 'very tall', that a significant increase in stature can be documented. Copyright © 2011 Elsevier Ltd. All rights reserved.

Short stature in children: Pattern and frequency in a pediatric clinic, Riyadh, Saudi Arabia.

PubMed

Al-Jurayyan N, Nasir A; Mohamed, Sarar H; Al Otaibi, Hessah M; Al Issa, Sharifah T; Omer, Hala G

2012-01-01

Longitudinal growth assessment is essential in child care. Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data. The objective of this study was to determine the pattern of short stature among patients referred to an endocrine pediatric clinic, King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia and to ascertain the aetiological profile of short stature. This is a retrospective review of patients referred to a pediatric endocrine clinic with short stature during the period January 1990 and December 2009. After a proper detailed medical history, growth analysis and physical examination, followed by a radiological (bone age) and laboratory screening (complete blood count and thyroid function). Growth hormone stimulation tests were performed when indicated. Magnetic resonance imaging (MRI) of the pituitary was performed when necessary. As well, celiac screening and small bowel biopsy were performed when appropriate. During the period under review, hundred and ten patients were evaluated for short stature. Their age ranged from 2 years and six months to 4 years. The male to female ratio was 1.3:1. The commonest etiology was genetic short stature found in 57 (51.8%) patients, while in the other 53 (48.2%) patients, variable endocrine and nutritional causes were noted. Short stature was a common referral. A wide variety of etiological diagnosis was noticed with genetic short stature being the commonest. A wide variety of endocrine causes were evident, with growth hormone deficiency, as a results of different etiologies, being the commonest.

To be or not to be "TALL"?

PubMed

Laron, Zvi

2012-08-01

Constitutional tall stature can be anticipated from neonatal length (1) and measurement at age 4 and 8 years (2). Mainly of genetic origin (3) it has been shown that tall children and parents have high normal or higher than normal serum hGH and/or IGF-I levels. (4-6). Also in a healthy adult population a significant (p<0.005) association between height and serum IGF-I has been reported (7). These within normal variations in "healthy" individuals should be distinguished from "gigantism" due to excessive GHR-H or hGH secretion (8, 9) and other pathological conditions leading to tall stature (3).

Developmental variation in ecogeographic body proportions.

PubMed

Cowgill, Libby W; Eleazer, Courtney D; Auerbach, Benjamin M; Temple, Daniel H; Okazaki, Kenji

2012-08-01

While ecogeographic variation in adult human body proportions has been extensively explored, relatively less attention has been paid to the effect of Bergmann's and Allen's rules on human body shape during growth. The relationship between climate and immature body form is particularly important, as immature mortality is high, mechanisms of thermoregulation differ between young and mature humans, and immature body proportions fluctuate due to basic parameters of growth. This study explores changes in immature ecogeographic body proportions via analyses of anthropometric data from children included in Eveleth and Tanner's (1976) Worldwide Variation in Human Growth, as well as limb proportion measurements in eight different skeletal samples. Moderate to strong correlations exist between climatic data and immature stature, weight, BMI, and bi-iliac breadth; these relationships are as strong, if not stronger, in immature individuals as they are in adults. Correlations between climate and trunk height relative to stature are weak or nonexistent. Altitude also has significant effects on immature body form, with children from higher altitudes displaying smaller statures and lower body weights. Brachial and crural indices remain constant over the course of growth and display consistent, moderate correlations with latitude across ontogeny that are just as high as those detected in adults. The results of this study suggest that while some features of immature body form, such as bi-iliac breadth and intralimb indices, are strongly dictated by ecogeographic principles, other characteristics of immature body proportions are influenced by intrinsic and extrinsic factors such as nutrition and basic constraints of growth. Copyright © 2012 Wiley Periodicals, Inc.

Growth in indigenous and nonindigenous Chilean schoolchildren from 3 poverty strata.

PubMed

Bustos, P; Amigo, H; Muñoz, S R; Martorell, R

2001-10-01

This study sought to determine whether the short stature of Mapuche children, an indigenous group in Chile, reflects poverty or genetic heritage and whether the international reference population, derived from studies of US children of mostly European origin, is appropriate for assessing growth failure in indigenous peoples of the Americas. The study assessed 768 schoolchildren of Mapuche and non-Mapuche ancestry, aged 6 to 9 years, living under conditions of extreme, medium, and low poverty. Growth retardation was strongly related to poverty in both ethnic groups. Within poverty levels, there were no significant differences in stature between ethnic groups, and in low-poverty areas in Santiago, the capital city, mean stature was only slightly less than in the reference population. Poverty, not ancestry, explains the short stature of Mapuche children, and use of the international reference to assess growth in this population is appropriate.

Growth in Indigenous and Nonindigenous Chilean Schoolchildren From 3 Poverty Strata

PubMed Central

Bustos, Patricia; Amigo, Hugo; Muñoz, Sergio R.; Martorell, Reynaldo

2001-01-01

Objectives. This study sought to determine whether the short stature of Mapuche children, an indigenous group in Chile, reflects poverty or genetic heritage and whether the international reference population, derived from studies of US children of mostly European origin, is appropriate for assessing growth failure in indigenous peoples of the Americas. Methods. The study assessed 768 schoolchildren of Mapuche and non-Mapuche ancestry, aged 6 to 9 years, living under conditions of extreme, medium, and low poverty. Results. Growth retardation was strongly related to poverty in both ethnic groups. Within poverty levels, there were no significant differences in stature between ethnic groups, and in low-poverty areas in Santiago, the capital city, mean stature was only slightly less than in the reference population. Conclusions. Poverty, not ancestry, explains the short stature of Mapuche children, and use of the international reference to assess growth in this population is appropriate. PMID:11574328

Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations

PubMed Central

Nilsson, Ola; Guo, Michael H.; Dunbar, Nancy; Popovic, Jadranka; Flynn, Daniel; Jacobsen, Christina; Lui, Julian C.; Hirschhorn, Joel N.; Baron, Jeffrey

2014-01-01

Context: Many children with idiopathic short stature have a delayed bone age. Idiopathic short stature with advanced bone age is far less common. Objective: The aim was to identify underlying genetic causes of short stature with advanced bone age. Setting and Design: We used whole-exome sequencing to study three families with autosomal-dominant short stature, advanced bone age, and premature growth cessation. Results: Affected individuals presented with short stature [adult heights −2.3 to −4.2 standard deviation scores (SDS)] with histories of early growth cessation or childhood short stature (height SDS −1.9 to −3.5 SDS), advancement of bone age, and normal endocrine evaluations. Whole-exome sequencing identified novel heterozygous variants in ACAN, which encodes aggrecan, a proteoglycan in the extracellular matrix of growth plate and other cartilaginous tissues. The variants were present in all affected, but in no unaffected, family members. In Family 1, a novel frameshift mutation in exon 3 (c.272delA) was identified, which is predicted to cause early truncation of the aggrecan protein. In Family 2, a base-pair substitution was found in a highly conserved location within a splice donor site (c.2026+1G>A), which is also likely to alter the amino acid sequence of a large portion of the protein. In Family 3, a missense variant (c.7064T>C) in exon 14 affects a highly conserved residue (L2355P) and is strongly predicted to perturb protein function. Conclusions: Our study demonstrates that heterozygous mutations in ACAN can cause a mild skeletal dysplasia, which presents clinically as short stature with advanced bone age. The accelerating effect on skeletal maturation has not previously been noted in the few prior reports of human ACAN mutations. Our findings thus expand the spectrum of ACAN defects and provide a new molecular genetic etiology for the unusual child who presents with short stature and accelerated skeletal maturation. PMID:24762113

Age related changes in pelvis size among adolescent and adult females with reference to parturition from Naraingarh, Haryana (India).

PubMed

Sharma, Krishan; Gupta, Puneet; Shandilya, Shailza

2016-08-01

This research examines the ontogenic patterns of changes in growth during adolescence, pelvis variations and growth during twenties and thirties of age, structural remodeling of pelvis related to childbirth and relationship of pelvis area with physique based on the cross-sectional data on 391 females from the state of Haryana. Peak growth velocity for body height and breadths of skeletal traits occurred between 11 and 12 years, much before mean age of menarche at 13.5 years; while for body weight and body mass index (BMI) occurred between 14 and 15 years, after the mean age of menarche. Untill the age 11 years, 11.87% of growth in stature was remaining, 19.37% for bi-cristal breadth, 25.96% for bi-ischial breadth and 35.82% for pelvic area. The hypothesis of critical value of pelvic width of 240mm at iliocristale for menarche to occur has been only a statistical association. Higher prevalence of malnutrition during pubertal phase than pre- and post-pubertal phases was due to greater nutritional needs during puberty. Among adult females, BMI was very poorly correlated with stature but very strongly correlated with body breadths, body breadth-stature indices and body weight. The body mass and pelvis size continued to change during 20s and first half of 30s. The continued increase of BMI was due to increase in body fat and muscle mass in females 18 years and older. To tease apart age and parturition effects on pelvis variations, the analysis showed that pelvic bones remodeling took place after the first child was born and not after the subsequent births, and it was a sign of childbirth phenotypic plasticity rather than age. Pelvis area was strongly associated with stature, BMI and age. Mean pelvic area of tall females was greater than those of medium and short stature. Females with broad shoulders had significantly greater mean pelvis area than those with narrow shoulders and medium shoulders. Females having thin/lean physique had the smallest mean pelvis area compared to those having medium and obese types of physiques. The stepwise multiple regression analysis revealed that BMI was the major determinant factor (multiple r=0.37) of pelvis area; addition of stature component increased the value of multiple r to 0.50, while addition of age marginally increased multiple r to 0.53. Copyright © 2016 Elsevier GmbH. All rights reserved.

Evolutionary trends of stature in upper Paleolithic and Mesolithic Europe.

PubMed

Formicola, V; Giannecchini, M

1999-03-01

Long bone lengths of all available European Upper Paleolithic (41 males, 25 females) and Mesolithic (171 males, 118 females) remains have been transformed into stature estimates by means of new regression equations derived from Early Holocene skeletal samples using "Fully's anatomical stature" and the major axis regression technique (Formicola & Franceschi, 1996). Statistical analysis of the data, with reference both to time and space parameters, indicates that: (1) Early Upper Paleolithic samples (pre-Glacial Maximum) are very tall; (2) Late Upper Paleolithic groups (post-Glacial Maximum) from Western Europe, compared to their ancestors, show a marked decrease in height; (3) a further, although not significant, reduction of stature affects Western Mesolithics; (4) no regional differences have been observed during both phases of the Upper Paleolithic; (5) a high level of homogeneity has also been found in the Mesolithic, both in Western and Eastern Europe; (6) the internal homogeneity found during the Mesolithic in Western and Eastern Europe is associated with marked inter-regional variability, with populations of the latter region showing systematically significantly greater stature than their Western contemporaries. Evaluation of possible causes for the great stature of the Early Upper Paleolithic samples points to high nutritional standards as the most important factor. Results obtained on later groups clearly indicate that the Last Glacial Maximum, rather than the Mesolithic transition, is the critical phase in the negative trend affecting Western European populations. While changes in the quality of the diet, and in particular decreased protein intake, provide a likely explanation for that trend, variations in levels of gene flow probably also played a role. Reasons for the West-East Mesolithic dichotomy remain unclear and lack of information for the Late Upper Paleolithic of Eastern Europe prevents insight into the remote origins of this phenomenon. Analysis of regional differentiation of stature, particularly well supported by data from Mesolithic sites, points to the absence of today's latitudinal gradients and suggests a relative homogeneity in dietary, cultural and biodemographic patterns for the last hunter-gatherer populations of Western Europe. Copyright 1999 Academic Press.

Long-term patterns of body mass and stature evolution within the hominin lineage.

PubMed

Will, Manuel; Pablos, Adrián; Stock, Jay T

2017-11-01

Body size is a central determinant of a species' biology and adaptive strategy, but the number of reliable estimates of hominin body mass and stature have been insufficient to determine long-term patterns and subtle interactions in these size components within our lineage. Here, we analyse 254 body mass and 204 stature estimates from a total of 311 hominin specimens dating from 4.4 Ma to the Holocene using multi-level chronological and taxonomic analytical categories. The results demonstrate complex temporal patterns of body size variation with phases of relative stasis intermitted by periods of rapid increases. The observed trajectories could result from punctuated increases at speciation events, but also differential proliferation of large-bodied taxa or the extinction of small-bodied populations. Combined taxonomic and temporal analyses show that in relation to australopithecines, early Homo is characterized by significantly larger average body mass and stature but retains considerable diversity, including small body sizes. Within later Homo , stature and body mass evolution follow different trajectories: average modern stature is maintained from ca 1.6 Ma, while consistently higher body masses are not established until the Middle Pleistocene at ca 0.5-0.4 Ma, likely caused by directional selection related to colonizing higher latitudes. Selection against small-bodied individuals (less than 40 kg; less than 140 cm) after 1.4 Ma is associated with a decrease in relative size variability in later Homo species compared with earlier Homo and australopithecines. The isolated small-bodied individuals of Homo naledi ( ca 0.3 Ma) and Homo floresiensis ( ca 100-60 ka) constitute important exceptions to these general patterns, adding further layers of complexity to the evolution of body size within the genus Homo . At the end of the Late Pleistocene and Holocene, body size in Homo sapiens declines on average, but also extends to lower limits not seen in comparable frequency since early Homo .

Long-term patterns of body mass and stature evolution within the hominin lineage

PubMed Central

Pablos, Adrián; Stock, Jay T.

2017-01-01

Body size is a central determinant of a species' biology and adaptive strategy, but the number of reliable estimates of hominin body mass and stature have been insufficient to determine long-term patterns and subtle interactions in these size components within our lineage. Here, we analyse 254 body mass and 204 stature estimates from a total of 311 hominin specimens dating from 4.4 Ma to the Holocene using multi-level chronological and taxonomic analytical categories. The results demonstrate complex temporal patterns of body size variation with phases of relative stasis intermitted by periods of rapid increases. The observed trajectories could result from punctuated increases at speciation events, but also differential proliferation of large-bodied taxa or the extinction of small-bodied populations. Combined taxonomic and temporal analyses show that in relation to australopithecines, early Homo is characterized by significantly larger average body mass and stature but retains considerable diversity, including small body sizes. Within later Homo, stature and body mass evolution follow different trajectories: average modern stature is maintained from ca 1.6 Ma, while consistently higher body masses are not established until the Middle Pleistocene at ca 0.5–0.4 Ma, likely caused by directional selection related to colonizing higher latitudes. Selection against small-bodied individuals (less than 40 kg; less than 140 cm) after 1.4 Ma is associated with a decrease in relative size variability in later Homo species compared with earlier Homo and australopithecines. The isolated small-bodied individuals of Homo naledi (ca 0.3 Ma) and Homo floresiensis (ca 100–60 ka) constitute important exceptions to these general patterns, adding further layers of complexity to the evolution of body size within the genus Homo. At the end of the Late Pleistocene and Holocene, body size in Homo sapiens declines on average, but also extends to lower limits not seen in comparable frequency since early Homo. PMID:29291118

Differences in development among children and adolescents in eastern and western China.

PubMed

Zhang, Ying-Xiu; Wang, Shu-Rong

2010-01-01

There are wide-ranging differences in human growth, not only between ethnic groups but also between regions. China covers a vast area and has a very large population. However, no studies on the differences in development among children and adolescents in eastern and western China have been reported. This study assessed the differences in stature and body weight in children and adolescents in eastern and western China. Using data derived from two national surveys on students' constitution and health carried out by the Chinese government in 1985 and 2005, the average stature and body weight for children and adolescents aged 7-18 years in eastern and western China were calculated. The differences of mean values between eastern and western China were compared. Boys and girls in eastern China were taller and heavier than their counterparts in western China in all age groups (7-18 years) in 2005, the average differences being 3.56 cm, 4.56 kg (urban boys), 3.05 cm, 2.92 kg (urban girls), 4.04 cm, 4.19 kg (rural boys) and 3.48 cm, 2.96 kg (rural girls). In 18-year-old groups, the differences in the stature and body weight between eastern and western China were 2.82 cm, 5.17 kg for urban boys, 1.86 cm, 2.11 kg for urban girls, 2.26 cm, 3.38 kg for rural boys and 1.96 cm, 1.38 kg for rural girls, respectively. From 1985 to 2005, differences in stature and body weight of children and adolescents between eastern and western China have continuously expanded. There have been obvious regional variations in development in children and adolescents in China, the variations in development in children and adolescents between eastern and western China being related to regional economic status and living standards of residents.

Incidence of short stature at 3 years of age in late preterm infants: a population-based study.

PubMed

Nagasaka, Miwako; Morioka, Ichiro; Yokota, Tomoyuki; Fujita, Kaori; Kurokawa, Daisuke; Koda, Tsubasa; Shibata, Akio; Yamada, Hideto; Ito, Yoshiya; Uchino, Eiko; Shirai, Chika; Iijima, Kazumoto

2015-03-01

This study aimed to investigate the incidence of short stature at 3 years of age in a Japanese cohort of late preterm infants who were born at 34-36 weeks' gestational age (GA). We compared these late preterm infants with term infants (37-41 weeks' GA), and evaluated the effect of birth weight on the incidence of short stature. A longitudinal population-based study of 26 970 neonates who were born between 34 weeks' and 41 weeks' GA in 2006-2008 was conducted in Kobe, Japan. Of these neonates, 1414 were late preterm and 25 556 were term infants. The late preterm infants were then divided into three subgroups based on birth weight as determined by Japanese neonatal anthropometric charts for GA at birth: large-for-GA (n=140), appropriate-for-GA (AGA, n=1083), and small-for-GA (SGA, n=191). The incidence of short stature at 3 years of age was calculated in the late preterm group and compared with that in the term group, and between the AGA and SGA groups with late preterm birth. The incidence of short stature in the late preterm group was 2.9%, which was significantly higher than that in the term group (1.4%). Late preterm SGA infants developed short stature with a significantly higher (9.4%) incidence than that of late preterm AGA infants (2.1%). The incidence of short stature in 3-year-old children who were late preterm infants has a 2-fold higher risk than that in term infants. The risk of developing short stature is increased 4.5-fold if they are SGA. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

A Quarter Century of Variation in Color and Allometric Characteristics of Eggs from a Rain Forest Population of the Pearly-eyed Thrasher (Margarops fuscatus).

Treesearch

WAYNE J. ARENDT

2004-01-01

Egg color, size, and shape vary considerably within and among female Pearly-eyed Thrashers (Margarops fuscatus). Results of a 25-yr study (1979-2004) are presented to provide comparative data. In a sample of 4,128 eggs, typical shape was prolate spheroid; but several variations were observed, depending on the age, stature, and physiological condition of the female, as...

Maternal short stature does not predict their children's fatness indicators in a nutritional dual-burden sample of urban Mexican Maya.

PubMed

Wilson, Hannah J; Dickinson, Federico; Griffiths, Paula L; Bogin, Barry; Hobbs, Matthew; Varela-Silva, M Inês

2014-04-01

The co-existence of very short stature due to poor chronic environment in early life and obesity is becoming a public health concern in rapidly transitioning populations with high levels of poverty. Individuals who have very short stature seem to be at an increased risk of obesity in times of relative caloric abundance. Increasing evidence shows that an individual is influenced by exposures in previous generations. This study assesses whether maternal poor early life environment predicts her child's adiposity using cross sectional design on Maya schoolchildren aged 7-9 and their mothers (n = 57 pairs). We compared maternal chronic early life environment (stature) with her child's adiposity (body mass index [BMI] z-score, waist circumference z-score, and percentage body fat) using multiple linear regression, controlling for the child's own environmental exposures (household sanitation and maternal parity). The research was performed in the south of Merida, Yucatan, Mexico, a low socioeconomic urban area in an upper middle income country. The Maya mothers were very short, with a mean stature of 147 cm. The children had fairly high adiposity levels, with BMI and waist circumference z-scores above the reference median. Maternal stature did not significantly predict any child adiposity indicator. There does not appear to be an intergenerational component of maternal early life chronic under-nutrition on her child's obesity risk within this free living population living in poverty. These results suggest that the co-existence of very short stature and obesity appears to be primarily due to exposures and experiences within a generation rather than across generations. Copyright © 2013 Wiley Periodicals, Inc.

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

PubMed

Capalbo, Donatella; Scala, Maria Giuseppa; Melis, Daniela; Minopoli, Giorgia; Improda, Nicola; Palamaro, Loredana; Pignata, Claudio; Salerno, Mariacarolina

2012-09-20

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed NS/LAH diagnosis, the clinical phenotype and pathogenetic mechanism underlying short stature. In particular, while both the patients exhibited a severe short stature, GH/IGFI axis functional evaluation revealed a different pathogenetic alteration, suggesting in one patient an upstream alteration (typical GHD) and in the other one a peripheral GH insensitivity.

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

PubMed

Melo, Cláudia; Gama-de-Sousa, Susana; Almeida, Filipa; Rendeiro, Paula; Tavares, Purificação; Cardoso, Helena; Carvalho, Sónia

2013-10-15

Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted. © 2013 Elsevier B.V. All rights reserved.

[Anthropometric indices to identify metabolic syndrome and hypertriglyceridemic waist phenotype: a comparison between the three stages of adolescence].

PubMed

Pereira, Patrícia Feliciano; Faria, Franciane Rocha de; Faria, Eliane Rodrigues de; Hermsdorff, Helen Hermana Miranda; Peluzio, Maria do Carmo Gouveia; Franceschini, Sylvia do Carmo Castro; Priore, Silvia Eloiza

2015-01-01

To determine the prevalence of metabolic syndrome (MS) and the hypertriglyceridemic waist phenotype (HW) in a representative adolescent sample; as well as to establish which anthropometric indicator better identifies MS and HW, according to gender and adolescent age. This cross sectional study had the participation of 800 adolescents (414 girls) from 10-19 years old. Anthropometric indicators (body mass index, waist perimeter, waist/stature ratio, waist/hip ratio, and central/peripheral skinfolds) were determined by standard protocols. For diagnosis of MS, the criteria proposed by de Ferranti et al. (2004) were used. HW was defined by the simultaneous presence of increased waist perimeter (>75th percentile for age and sex) and high triglycerides (>100mg/dL). The ability of anthropometric indicators was evaluated by Receiver Operating Characteristic curve. The prevalence of MS was identical to HW (6.4%), without differences between genders and the adolescence phases. The waist perimeter showed higher area under the curve for the diagnosis of MS, except for boys with 17-19 years old, for whom the waist/stature ratio exhibited better performance. For diagnosing HW, waist perimeter also showed higher area under the curve, except for boys in initial and final phases, in which the waist/stature ratio obtained larger area under the curve. The central/peripheral skinfolds had the lowest area under the curve for the presence of both MS and HW phenotype. The waist perimeter and the waist/stature showed a better performance to identify MS and HW in both genders and in all three phases of adolescence. Copyright © 2015 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Anthropometric indices to identify metabolic syndrome and hypertriglyceridemic waist phenotype: a comparison between the three stages of adolescence

PubMed Central

Pereira, Patrícia Feliciano; de Faria, Franciane Rocha; de Faria, Eliane Rodrigues; Hermsdorff, Helen Hermana Miranda; Peluzio, Maria do Carmo Gouveia; Franceschini, Sylvia do Carmo Castro; Priore, Silvia Eloiza

2015-01-01

OBJECTIVE: To determine the prevalence of metabolic syndrome (MS) and the hypertriglyceridemic waist phenotype (HW) in a representative adolescent sample; as well as to establish which anthropometric indicator better identifies MS and HW, according to gender and adolescent age. METHODS: This cross sectional study had the participation of 800 adolescents (414 girls) from 10-19 years old. Anthropometric indicators (body mass index, waist perimeter, waist/stature ratio, waist/hip ratio, and central/peripheral skinfolds) were determined by standard protocols. For diagnosis of MS, the criteria proposed by de Ferranti et al. (2004) were used. HW was defined by the simultaneous presence of increased waist perimeter (>75th percentile for age and sex) and high triglycerides (>100 mg/dL). The ability of anthropometric indicators was evaluated by Receiver Operating Characteristic curve. RESULTS: The prevalence of MS was identical to HW (6.4%), without differences between genders and the adolescence phases. The waist perimeter showed higher area under the curve for the diagnosis of MS, except for boys with 17-19 years old, for whom the waist/stature ratio exhibited better performance. For diagnosing HW, waist perimeter also showed higher area under the curve, except for boys in initial and final phases, in which the waist/stature ratio obtained larger area under the curve. The central/peripheral skinfolds had the lowest area under the curve for the presence of both MS and HW phenotype. CONCLUSIONS: The waist perimeter and the waist/stature showed a better performance to identify MS and HW in both genders and in all three phases of adolescence. PMID:25913494

Evolution of the pygmy phenotype: evidence of positive selection fro genome-wide scans in African, Asian, and Melanesian pygmies.

PubMed

Migliano, Andrea Bamberg; Romero, Irene Gallego; Metspalu, Mait; Leavesley, Matthew; Pagani, Luca; Antao, Tiago; Huang, Da-Wei; Sherman, Brad T; Siddle, Katharine; Scholes, Clarissa; Hudjashov, Georgi; Kaitokai, Elton; Babalu, Avis; Belatti, Maggie; Cagan, Alex; Hopkinshaw, Byrony; Shaw, Colin; Nelis, Mari; Metspalu, Ene; Mägi, Reedik; Lempicki, Richard A; Villems, Richard; Lahr, Marta Mirazon; Kivisild, Toomas

2013-01-01

Human pygmy populations inhabit different regions of the world, from Africa to Melanesia. In Asia, short-statured populations are often referred to as "negritos." Their short stature has been interpreted as a consequence of thermoregulatory, nutritional, and/or locomotory adaptations to life in tropical forests. A more recent hypothesis proposes that their stature is the outcome of a life history trade-off in high-mortality environments, where early reproduction is favored and, consequently, early sexual maturation and early growth cessation have coevolved. Some serological evidence of deficiencies in the growth hormone/insulin-like growth factor axis have been previously associated with pygmies' short stature. Using genome-wide single-nucleotide polymorphism genotype data, we first tested whether different negrito groups living in the Philippines and Papua New Guinea are closely related and then investigated genomic signals of recent positive selection in African, Asian, and Papuan pygmy populations. We found that negritos in the Philippines and Papua New Guinea are genetically more similar to their nonpygmy neighbors than to one another and have experienced positive selection at different genes. These results indicate that geographically distant pygmy groups are likely to have evolved their short stature independently. We also found that selection on common height variants is unlikely to explain their short stature and that different genes associated with growth, thyroid function, and sexual development are under selection in different pygmy groups. Copyright © 2013 Wayne State University Press, Detroit, Michigan 48201-1309.

Variation in ancient Egyptian stature and body proportions.

PubMed

Zakrzewski, Sonia R

2003-07-01

Stature and the pattern of body proportions were investigated in a series of six time-successive Egyptian populations in order to investigate the biological effects on human growth of the development and intensification of agriculture, and the formation of state-level social organization. Univariate analyses of variance were performed to assess differences between the sexes and among various time periods. Significant differences were found both in stature and in raw long bone length measurements between the early semipastoral population and the later intensive agricultural population. The size differences were greater in males than in females. This disparity is suggested to be due to greater male response to poor nutrition in the earlier populations, and with the increasing development of social hierarchy, males were being provisioned preferentially over females. Little change in body shape was found through time, suggesting that all body segments were varying in size in response to environmental and social conditions. The change found in body plan is suggested to be the result of the later groups having a more tropical (Nilotic) form than the preceding populations. Copyright 2003 Wiley-Liss, Inc.

Variation in mangrove forest structure and sediment characteristics in Bocas del Toro, Panama

USGS Publications Warehouse

Lovelock, C.E.; Feller, Ilka C.; McKee, K.L.; Thompson, R.

2005-01-01

Mangrove forest structure and sediment characteristics were examined in the extensive mangroves of Bocas del Toro, Republic of Panama. Forest structure was characterized to determine if spatial vegetation patterns were repeated over the Bocas del Toro landscape. Using a series of permanent plots and transects we found that the forests of Bocas del Toro were dominated by Rhizophora mangle with very few individuals of Avicennia germinans and Laguncularia racemosa. Despite this low species diversity, there was large variation in forest structure and in edaphic conditions (salinity, concentration of available phosphorus, Eh and sulphide concentration). Aboveground biomass varied 20-fold, from 6.8 Mg ha-1 in dwarf forests to 194.3 Mg ha-1 in the forests fringing the land. But variation in forest structure was predictable across the intertidal zone. There was a strong tree height gradient from seaward fringe (mean tree height 3.9 m), decreasing in stature in the interior dwarf forests (mean tree height 0.7 m), and increasing in stature in forests adjacent to the terrestrial forest (mean tree height 4.1 m). The predictable variation in forest structure emerges due to the complex interactions among edaphic and plant factors. Identifying predictable patterns in forest structure will aid in scaling up the ecosystem services provided by mangrove forests in coastal landscapes. Copyright 2005 College of Arts and Sciences.

Syndromic Disorders with Short Stature

PubMed Central

Şıklar, Zeynep; Berberoğlu, Merih

2014-01-01

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

A practical method of estimating stature of bedridden female nursing home patients.

PubMed

Muncie, H L; Sobal, J; Hoopes, J M; Tenney, J H; Warren, J W

1987-04-01

Accurate measurement of stature is important for the determination of several nutritional indices as well as body surface area (BSA) for the normalization of creatinine clearances. Direct standing measurement of stature of bedridden elderly nursing home patients is impossible, and stature as recorded in the chart may not be valid. An accurate stature obtained by summing five segmental measurements was compared to the stature recorded in the patient's chart and calculated estimates of stature from measurement of a long bone (humerus, tibia, knee height). Estimation of stature from measurement of knee height was highly correlated (r = 0.93) to the segmental measurement of stature while estimates from other long-bone measurements were less highly correlated (r = 0.71 to 0.81). Recorded chart stature was poorly correlated (r = 0.37). Measurement of knee height provides a simple, quick, and accurate means of estimating stature for bedridden females in nursing homes.

A genetic study of the ghrelin and growth hormone secretagogue receptor (GHSR) genes and stature.

PubMed

Gueorguiev, M; Lecoeur, C; Benzinou, M; Mein, C A; Meyre, D; Vatin, V; Weill, J; Heude, B; Grossman, A B; Froguel, P; Korbonits, M

2009-01-01

Growth and nutrition are interrelated and influenced by multiple genetic and environmental factors. We studied whether common variants in ghrelin and ghrelin receptor (GHSR) genes could play a role in stature variation in the general population and in families ascertained for obesity. Selected tagging SNPs in the ghrelin and GHSR genes were genotyped in 263 Caucasian families recruited for childhood obesity (1,275 subjects), and in 287 families from a general population (1,072 subjects). We performed familial testing for associations in the entire population and in a sub-set of the samples selected for a case-control study. In the case-control study for height (cases were selected from the obese cohort with mean ZH = 3.17 +/- 0.15 confidence interval (CI) versus controls with mean ZH 0.14 +/- 0.09), we found an association with a 2 base-pair intronic deletion in the GHSR gene (rs10618418) (p = 0.006, odds ratio (OR) 1.86, 95% CI [1.26;2.74] under additive model), although when adjusting for BMI, the association disappeared (p = 0.06). Individuals carrying no deletion or who were heterozygous were significantly more frequent among the tall obese population (52% vs. 36% in controls, p = 0.007, OR 1.97, 95%CI [1.22;3.18]). However, the association was not maintained after correcting for multiple testing. Familial association testing of the ghrelin and GHSR genes and their interaction testing failed to show that any combination of SNPs had any significant effect. Thus, our results suggest that common variants of the ghrelin and GHSR genes are not major contributors to height variation in a French population.

Short Stature Diagnosis and Referral

PubMed Central

Maghnie, Mohamad; Labarta, José I.; Koledova, Ekaterina; Rohrer, Tilman R.

2018-01-01

The “360° GH in Europe” meeting, which examined various aspects of GH diseases, was held in Lisbon, Portugal, in June 2016. The Merck KGaA (Germany) funded meeting comprised three sessions entitled “Short Stature Diagnosis and Referral,” “Optimizing Patient Management,” and “Managing Transition.” Each session had three speaker presentations, followed by a discussion period, and is reported as a manuscript, authored by the speakers. The first session examined current processes of diagnosis and referral by endocrine specialists for pediatric patients with short stature. Requirements for referral vary widely, by country and by patient characteristics such as age. A balance must be made to ensure eligible patients get referred while healthcare systems are not over-burdened by excessive referrals. Late referral and diagnosis of non-GH deficiency conditions can result in increased morbidity and mortality. The consequent delays in making a diagnosis may compromise the effectiveness of GH treatment. Algorithms for growth monitoring and evaluation of skeletal disproportions can improve identification of non-GH deficiency conditions. Performance and validation of guidelines for diagnosis of GH deficiency have not been sufficiently tested. Provocative tests for investigation of GH deficiency remain equivocal, with insufficient information on variations due to patient characteristics, and cutoff values for definition differ not only by country but also by the assay used. When referring and diagnosing causes of short stature in pediatric patients, clinicians need to rely on many factors, but the most essential is clinical experience. PMID:29375479

Patterns of Ancestry, Signatures of Natural Selection, and Genetic Association with Stature in Western African Pygmies

PubMed Central

Jarvis, Joseph P.; Ferwerda, Bart; Froment, Alain; Bodo, Jean-Marie; Beggs, William; Hoffman, Gabriel; Mezey, Jason; Tishkoff, Sarah A.

2012-01-01

African Pygmy groups show a distinctive pattern of phenotypic variation, including short stature, which is thought to reflect past adaptation to a tropical environment. Here, we analyze Illumina 1M SNP array data in three Western Pygmy populations from Cameroon and three neighboring Bantu-speaking agricultural populations with whom they have admixed. We infer genome-wide ancestry, scan for signals of positive selection, and perform targeted genetic association with measured height variation. We identify multiple regions throughout the genome that may have played a role in adaptive evolution, many of which contain loci with roles in growth hormone, insulin, and insulin-like growth factor signaling pathways, as well as immunity and neuroendocrine signaling involved in reproduction and metabolism. The most striking results are found on chromosome 3, which harbors a cluster of selection and association signals between approximately 45 and 60 Mb. This region also includes the positional candidate genes DOCK3, which is known to be associated with height variation in Europeans, and CISH, a negative regulator of cytokine signaling known to inhibit growth hormone-stimulated STAT5 signaling. Finally, pathway analysis for genes near the strongest signals of association with height indicates enrichment for loci involved in insulin and insulin-like growth factor signaling. PMID:22570615

Combined effect of short stature and socioeconomic status on body mass index and weight gain during reproductive age in Brazilian women.

PubMed

Sichieri, R; Silva, C V C; Moura, A S

2003-10-01

Short stature, a marker for undernutrition early in life, has been associated with obesity in Brazilian women, but not in men. We tested the hypothesis that weight gain during the reproductive years could explain this gender difference. A national two-stage household survey of mothers with one or more children under five years of age was conducted in Brazil in 1996. The subjects were women aged 20 to 45 years (N = 2297), with last delivery seven months or more prior to the interview. The regions of the country were divided into rural, North/Northeast (urban underdeveloped) and South/Southeast/Midwest (urban developed). The dependent variables were current body mass index (BMI) measured, BMI prior to childbearing (reported), and BMI change. Socioeconomic variables included mother's years of education and family purchasing power score. A secondary analysis was restricted to primiparous women. The prevalence of current overweight and overweight prior to childbearing (BMI > or = 25 kg/m2) was higher among shorter women (<1.50 m) compared to normal stature women only in the urban developed region (P < 0.05). After adjustment for socioeconomic variables, age, parity, BMI prior to childbearing, and age at first birth, current BMI was 2.39 units higher (P = 0.008) for short stature women living in the urban developed area compared with short stature women living in the urban underdeveloped area. For both multiparous and primiparous women, BMI gain compared to the value prior to childbearing was significantly higher among short stature women living in the urban developed region (P <= 0.04). These results provide clear evidence that short stature was associated with a higher BMI and with an increased risk of weight gain/retention with pregnancy in the developed areas of Brazil, but not in the underdeveloped ones.

Family size, the physical environment, and socioeconomic effects across the stature distribution.

PubMed

Carson, Scott Alan

2012-04-01

A neglected area in historical stature studies is the relationship between stature and family size. Using robust statistics and a large 19th century data set, this study documents a positive relationship between stature and family size across the stature distribution. The relationship between material inequality and health is the subject of considerable debate, and there was a positive relationship between stature and wealth and an inverse relationship between stature and material inequality. After controlling for family size and wealth variables, the paper reports a positive relationship between the physical environment and stature. Copyright © 2012 Elsevier GmbH. All rights reserved.

Association between maternal socioeconomic factors and nutritional outcomes in children under 5 years of age.

PubMed

Géa-Horta, Tatiane; Felisbino-Mendes, Mariana Santos; Ortiz, Renzo Joel Flores; Velasquez-Melendez, Gustavo

To estimate the association between maternal socioeconomic factors and the occurrence of nutritional outcomes in children under five years of age in a representative sample of the Brazilian population. This was a cross-sectional study that evaluated data from the latest National Survey of Children and Women's Demographics and Health, carried out in Brazil in 2006-2007. Maternal employment and maternal level of schooling were the main exposures. The following nutritional outcomes in children were considered: height/age <-2 standard deviations (SD) for short stature and BMI/age >2SD for overweight. Generalized estimating equations (GEE) were utilized as the regression method. After adjustments, it was observed that children whose mothers had low level of schooling had a higher chance of having short stature (OR=3.97, 95% CI, 1.23-12.80) and children whose mothers worked outside the home were more likely to have excess weight (OR=1.57, 95% CI, 1.02-2.42). Maternal employment was not associated with short stature in children (OR=1.09, 95% CI, 0.67-1.77). Maternal level of schooling was associated with short stature in children and maternal employment with overweight, indicating the need to take into account the socioeconomic factors when proposing programs and strategies aimed at health and nutrition improvement of children, considering inter-sectoral interventions. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Short normal stature and psychosocial disadvantage: a critical review of the evidence.

PubMed

Voss, L D

2001-06-01

Physicians and parents alike are under increasing pressure to identify and to treat short stature, but intervention implies the presence of some pathology, physical or psychological, that can be corrected. Where there is true GH deficiency, the argument for replacement is uncontroversial. It is less compelling where GH 'insufficiency' is diagnosed. In the case of the short, but otherwise normal, child the indications for therapy are even less clear. Short stature, per se, is clearly not a disease, in spite of the perception by some practitioners that the rate of growth of such children is abnormal. Short stature is, however, commonly perceived to be associated with social and psychological disadvantage, yet many of these misperceptions about short stature can be challenged. A critical review of the literature pertaining to the psychosocial correlates of short stature uncovers much flawed evidence. Most importantly, the belief, widely held by paediatricians, that short children are likely to be significantly disadvantaged, has been founded largely on data from clinic-referred samples. In such studies, children with real (or perceived) behavioural or academic problems are likely to be overly represented. Publications arising from such studies, however, inevitably lead to an increase in the demand for treatment both from and for those who previously had no such concern. In contrast, data from a well controlled, prospective population-based study suggest the essential normality of the short normal child. Parents and children alike should be reassured by these findings. In the absence of clear pathology, physical or psychological, GH therapy for short but otherwise normal children must therefore, in most cases, be deemed cosmetic, raising issues as to the ethics of so-called "plastic endocrinology".

Multiplication factor versus regression analysis in stature estimation from hand and foot dimensions.

PubMed

Krishan, Kewal; Kanchan, Tanuj; Sharma, Abhilasha

2012-05-01

Estimation of stature is an important parameter in identification of human remains in forensic examinations. The present study is aimed to compare the reliability and accuracy of stature estimation and to demonstrate the variability in estimated stature and actual stature using multiplication factor and regression analysis methods. The study is based on a sample of 246 subjects (123 males and 123 females) from North India aged between 17 and 20 years. Four anthropometric measurements; hand length, hand breadth, foot length and foot breadth taken on the left side in each subject were included in the study. Stature was measured using standard anthropometric techniques. Multiplication factors were calculated and linear regression models were derived for estimation of stature from hand and foot dimensions. Derived multiplication factors and regression formula were applied to the hand and foot measurements in the study sample. The estimated stature from the multiplication factors and regression analysis was compared with the actual stature to find the error in estimated stature. The results indicate that the range of error in estimation of stature from regression analysis method is less than that of multiplication factor method thus, confirming that the regression analysis method is better than multiplication factor analysis in stature estimation. Copyright © 2012 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Stress, sex, and plague: Patterns of developmental stress and survival in pre- and post-Black Death London.

PubMed

DeWitte, Sharon N

2018-01-01

Previous research revealed declines in survivorship in London before the Black Death (c. 1346-1353), and improvements in survivorship following the epidemic. These trends indicate that there were declines in general levels of health before the Black Death and improvements thereof afterwards. This study expands on previous research by examining whether changes in survivorship were consistent between the sexes, and how patterns of developmental stress markers changed before and after the Black Death. This study uses samples from London cemeteries dated to one of three periods: Early Pre-Black Death (1000-1200 AD, n = 255), Late Pre-Black Death (1200-1250 AD, n = 247), or Post-Black Death (1350-1540 AD n = 329). Temporal trends in survivorship are assessed via Kaplan-Meier survival analysis, and trends in tibial length (as a proxy for stature) and linear enamel hypoplasia (LEH) are assessed using t-tests and Chi-square tests, respectively. Survivorship for both sexes decreased before the Black Death and increased afterwards. For males, LEH frequencies increased and stature decreased before the epidemic, and LEH declined and stature increased after the Black Death. For females, the only significant change with respect to developmental stress markers was a decrease in stature after the Black Death. These results might reflect variation between the sexes in sensitivity to stressors, the effects of nutrition on pubertal timing, disproportionate access to dietary resources for males in the aftermath of the Black Death, the disproportionate deaths of frail individuals during the epidemic, or some combination of these factors. © 2017 Wiley Periodicals, Inc.

Changes in body mass, stature and BMI in South African elite U18 Rugby players from different racial groups from 2002-2012.

PubMed

Durandt, Justin; Green, Mervin; Masimla, Herman; Lambert, Mike

2018-03-01

The purpose of this study was to determine whether there are differences between racial groups for body mass, stature and body mass index (BMI) in South African elite U18 rugby players and whether there were significant changes in these measurements between 2002 and 2012. Self-reported body mass and stature were obtained from U18 players (n = 4007) who attended the national tournament during this period. BMI was calculated for each player.White players were 9.8 kg heavier than black players, who were 2.3 kg heavier than coloured players (P < 0.0001). The body mass of all groups increased from 2002 to 2012 (P < 0.0001). White players were 7.0 cm taller than black players who were 0.5 cm taller than coloured players (P < 0.0001). Players' stature measurements did not change significantly during the study period. The average BMI of white players was 0.9 kg·m -2  greater than black players who were on average 0.7 kg·m -2  greater than coloured players (P < 0.0001). The BMI of all groups changed similarly over the study period. The body mass, stature and BMI of elite under-18 rugby players in South Africa were significantly different between racial groups. This has implications for transforming the game to make it representative of the South African population.

Medicalising short children with growth hormone? Ethical considerations of the underlying sociocultural aspects.

PubMed

Murano, Maria Cristina

2018-06-01

In 2003, the Food and Drug Administration approved the use of growth hormone treatment for idiopathic short stature children, i.e. children shorter than average due to an unknown medical cause. Given the absence of any pathological conditions, this decision has been contested as a case of medicalisation. The aim of this paper is to broaden the debate over the reasons for and against the treatment, to include considerations of the sociocultural phenomenon of the medicalisation of short stature, by means of a critical understanding of the concept of medicalisation. After defining my understanding of medicalisation and describing both the treatment and the condition of idiopathic short stature, I will problematise two fundamental issues: the medical/non-medical distinction and the debate about the goals of medicine. I will analyse them, combining perspectives of bioethics, medical sociology, philosophy of medicine and medical literature, and I will suggest that there are different levels of normativity of medicalisation. Ultimately, this study shows that: (1) the definition of idiopathic short stature, focusing only on actual height measurement, does not provide enough information to assess the need for treatment or not; (2) the analysis of the goals of medicine should be broadened to include justifications for the treatment; (3) the use of growth hormone for idiopathic short stature involves strong interests from different stakeholders. While the treatment might be beneficial for some children, it is necessary to be vigilant about possible misconduct at different levels of medicalisation.

[Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome].

PubMed

Qin, X Y; Dong, W K; Wang, W; Dong, Z Y; Xiao, Y; Lu, W L; Wang, D F

2016-11-02

Objective: To explore the clinical manifestations and molecular features of 46, XX male syndrome. Method: The clinical and molecular data of five 46, XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed. Result: The five patients were all sociopsychologically males and came to hospital respectively for short stature, ambiguous genitalia or gynecomastia. They were all below the normal male's average height, and their karyotype was all 46, XX. One case in five was verified as sex determining region of Y chromosome (SRY gene) positive revealed no abnormality in their external genitalia. He had short stature since childhood, whose SRY gene fragments were shown by FISH transferred to the ends of X chromosome. Three cases in four were SRY gene negative with ambiguous genitalia of cryptorchidism and testicular dysplasia to different degrees. The copy number variations of SOX9 gene was found in one case, the loss of heterozygosity area in DHH gene of one case. Another SRY gene negative patient who had normal male external genitalia, came to the hospital due to puberty gynecomastia, that of SOX9 gene and its upstream gene both increased. Conclusion: The main clinical characteristics of 46, XX male syndrome are male phenotype, 46, XX karyotype, gonad of testis or ovotestis and no uterus. In addition, short stature, ambiguous genitalia or gynecomastia can be one reason for hospital visits. SRY gene translocation, SOX9 gene and its upstream gene copy number increase all can lead to 46, XX male syndrome. The cause of some may play an important role in 46, XX male syndrome, but has not yet been determined.

Light-dependent leaf trait variation in 43 tropical dry forest tree species.

PubMed

Markesteijn, Lars; Poorter, Lourens; Bongers, Frans

2007-04-01

Our understanding of leaf acclimation in relation to irradiance of fully grown or juvenile trees is mainly based on research involving tropical wet forest species. We studied sun-shade plasticity of 24 leaf traits of 43 tree species in a Bolivian dry deciduous forest. Sampling was confined to small trees. For each species, leaves were taken from five of the most and five of the least illuminated crowns. Trees were selected based on the percentage of the hemisphere uncovered by other crowns. We examined leaf trait variation and the relation between trait plasticity and light demand, maximum adult stature, and ontogenetic changes in crown exposure of the species. Leaf trait variation was mainly related to differences among species and to a minor extent to differences in light availability. Traits related to the palisade layer, thickness of the outer cell wall, and N(area) and P(area) had the greatest plasticity, suggesting their importance for leaf function in different light environments. Short-lived pioneers had the highest trait plasticity. Overall plasticity was modest and rarely associated with juvenile light requirements, adult stature, or ontogenetic changes in crown exposure. Dry forest tree species had a lower light-related plasticity than wet forest species, probably because wet forests cast deeper shade. In dry forests light availability may be less limiting, and low water availability may constrain leaf trait plasticity in response to irradiance.

Growth hormone test

MedlinePlus

... under the skin) Infection (a slight risk any time the skin is broken) Alternative Names GH test Images Growth hormone stimulation test - series References Ali O. Hyperpituitarism, tall stature, and overgrowth ...

[Natural progression of premature pubarche and underlying diseases].

PubMed

Sancho Rodríguez, María Luisa; Bueno Lozano, Gloria; Labarta Aizpún, José Ignacio; de Arriba Muñoz, Antonio

2018-04-25

Premature pubarche (PP) is generally thought to be a benign condition, but it can also be the first sign of underlying disease. To analyse the aetiology and the evolution of the anthropometric, analytical and metabolic risk parameters of a group of patients with PP. A descriptive and analytical retrospective study of 92 patients affected by PP. Anthropometry, analyses, bone age and indicators of lipid metabolism were all evaluated. The sample included 92 patients with PP (67 female and 25 male), with a mean age of 7.1±0.6 for girls and 8.3±0.7 for boys. Small for gestational age was recorded in 7.7%. There was an accelerated bone age (1.20±0.1 years). A total of 21 patients were classified as idiopathic (23%), 60 as idiopathic premature adrenarche (65%), and 11 with non-classic congenital adrenal hyperplasia (12%). Puberty was reached early (11+0.9 years old in boys and 9.9±0.8 in girls), as was menstruation age (11.8+1.1 years old), P<.001. The stature finally reached was close to their genetic stature. There is a positive correlation between body mass index, blood glucose and LDL cholesterol, as well as a tendency towards hyperinsulinaemia. The present study shows that PP is a benign condition in the majority of cases, but non-classic congenital adrenal hyperplasia (12%) is not uncommon. Menstruation and puberty started early and bone age was accelerated. Growth was normal, and more or less in line with genetic size. PP associated with obesity is linked with analytical variations of metabolic risks. Copyright © 2017. Publicado por Elsevier España, S.L.U.

Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.

PubMed

Jorge, Alexander A L; Funari, Mariana Fa; Nishi, Mirian Y; Mendonca, Berenice B

2010-12-01

Heterozygous SHOX defects are observed in about 50 to 90% of patients with Leri-Weill dyschondrosteosis (LWD), a common dominant inherited skeletal dysplasia; and in 2 to 15% of children with idiopathic short stature (ISS), indicating that SHOX defects are the most important monogenetic cause of short stature. In addition, children selected by disproportionate idiopathic short stature had a higher frequency of SHOX mutations (22%). A careful clinical evaluation of family members with short stature is recommended since it usually revealed LWD patients in families first classified as having ISS or familial short stature. SHOX-molecular analysis is indicated in families with LWD and ISS children with disproportionate short stature. Treatment with recombinant human growth hormone is considered an accepted approach to treat short stature associated with isolated SHOX defect. Here we review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency.

Changes in radiation dose with variations in human anatomy: larger and smaller normal-stature adults.

PubMed

Marine, Patrick M; Stabin, Michael G; Fernald, Michael J; Brill, Aaron B

2010-05-01

A systematic evaluation has been performed to study how specific absorbed fractions (SAFs) vary with changes in adult body size, for persons of different size but normal body stature. A review of the literature was performed to evaluate how individual organ sizes vary with changes in total body weight of normal-stature individuals. On the basis of this literature review, changes were made to our easily deformable reference adult male and female total-body models. Monte Carlo simulations of radiation transport were performed; SAFs for photons were generated for 10th, 25th, 75th, and 90th percentile adults; and comparisons were made to the reference (50th) percentile SAF values. Differences in SAFs for organs irradiating themselves were between 0.5% and 1.0%/kg difference in body weight, from 15% to 30% overall, for organs within the trunk. Differences in SAFs for organs outside the trunk were not greater than the uncertainties in the data and will not be important enough to change calculated doses. For organs irradiating other organs within the trunk, differences were significant, between 0.3% and 1.1%/kg, or about 8%-33% overall. The differences are interesting and can be used to estimate how different patients' dosimetry might vary from values reported in standard dose tables.

Relationship between adult stature, BMI and WHR in Backa and Banat.

PubMed

Pavlica, Tatjana; Bozic-Krstic, Verica; Rakic, Rada

2010-01-01

Adult height can be a marker of living conditions in early life. The aim of this study was to assess relationship between adult stature, overweight and central obesity in Backa and Banat--Vojvodina (Serbia). 4,504 adults, average age 40.62 +/- 10.74, were tested. The analysis of differences in morphological variables, BMI, WHR in stature, age and educational groups was carried out using t-test and chi-square test. Models of logistic regression were used to estimate the risk (OR; 95% CI) of obesity in different stature groups. This study showed that education was a significant factor that influences stature. Most short stature subjects had primary education. The highest percentage of those with university-level education was in the tall stature group. Among men, short stature did not correlate with overweight/obesity while a smaller correlation was observed in relation to central adiposity. It, however, had a more marked influence among women. Short stature women were more susceptible to overweight in 20-49 y age groups, and to abdominal obesity in 50-59 y age group. Short stature can potentially be an independent risk factor for developing overweight/obesity in women and to a lesser extent for central obesity of both men and women.

Estimation of stature using hand and foot dimensions in Slovak adults.

PubMed

Uhrová, Petra; Beňuš, Radoslav; Masnicová, Soňa; Obertová, Zuzana; Kramárová, Daniela; Kyselicová, Klaudia; Dörnhöferová, Michaela; Bodoriková, Silvia; Neščáková, Eva

2015-03-01

Hand and foot dimensions used for stature estimation help to formulate a biological profile in the process of personal identification. Morphological variability of hands and feet shows the importance of generating population-specific equations to estimate stature. The stature, hand length, hand breadth, foot length and foot breadth of 250 young Slovak males and females, aged 18-24 years, were measured according to standard anthropometric procedures. The data were statistically analyzed using independent t-test for sex and bilateral differences. Pearson correlation coefficient was used for assessing relationship between stature and hand/foot parameters, and subsequently linear regression analysis was used to estimate stature. The results revealed significant sex differences in hand and foot dimensions as well as in stature (p<0.05). There was a positive and statistically significant correlation between stature and all measurements in both sexes (p<0.01). The highest correlation coefficient was found for foot length in males (r=0.71) as well as in females (r=0.63). Regression equations were computed separately for each sex. The accuracy of stature prediction ranged from ±4.6 to ±6.1cm. The results of this study indicate that hand and foot dimension can be used to estimate stature for Slovak for the purpose of forensic field. The regression equations can be of use for stature estimation particularly in cases of dismembered bodies. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Estimation of stature by using lower limb dimensions in the Malaysian population.

PubMed

Nor, Faridah Mohd; Abdullah, Nurliza; Mustapa, Al-Mizan; Qi Wen, Leong; Faisal, Nurulina Aimi; Ahmad Nazari, Dayang Anis Asyikin

2013-11-01

Estimation of stature is an important step in developing a biological profile for human identification. It may provide a valuable indicator for an unknown individual in a population. The aim of this study was to analyse the relationship between stature and lower limb dimensions in the Malaysian population. The sample comprised 100 corpses, which included 69 males and 31 females between the age range of 20-90 years old. The parameters measured were stature, thigh length, lower leg length, leg length, foot length, foot height and foot breadth. Results showed that the mean values in males were significantly higher than those in females (p < 0.05). There were significant correlations between lower limb dimensions and stature. Cross-validation of the equation on 100 individuals showed close approximation between known stature and estimated stature. It was concluded that lower limb dimensions were useful for estimation of stature, which should be validated in future studies. Crown Copyright © 2013. Published by Elsevier Ltd. All rights reserved.

Genetic Evaluation of Short Stature

PubMed Central

Rosenfeld, Ron G.

2014-01-01

Context: Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child with short stature. Evidence Acquisition: A search of PubMed was performed, focusing on the genetic diagnosis of short stature as well as on specific diagnostic subgroups included in this article. Consensus guidelines were reviewed. Evidence Synthesis: There are a multitude of rare genetic causes of severe short stature. There is no high-quality evidence to define the optimal approach to the genetic evaluation of short stature. We review genetic etiologies of a number of diagnostic subgroups and propose an algorithm for genetic testing based on these subgroups. Conclusion: Advances in genomic technologies are revolutionizing the diagnostic approach to short stature. Endocrinologists must become facile with the use of genetic testing in order to identify the various monogenic disorders that present with short stature. PMID:24915122

Short stature with congenital ichthyosis.

PubMed

Lakhani, Som J; Lakhani, Om J

2015-12-09

PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome. 2015 BMJ Publishing Group Ltd.

Predictors of Stature Concerns among Young Chinese Women and Men.

PubMed

Sun, Qingqing

2017-01-01

Stature concerns are a prominent source of body dissatisfaction for Chinese teenagers and young adults, yet little is known about the psychological factors that account for it. Therefore, this study examined social cultural model and objectification theory as explanations for stature concerns in a sample of undergraduate men and women from a university in Henan, China. Given height is a salient physical attribute for Chinese adolescents and young adults, we extended past studies on objectification theory by adding separate measures for stature surveillance. Participants (231 men, 473 women) completed a questionnaire assaying measures of sociocultural model features (appearance pressure from mass media and close interpersonal networks, appearance social comparisons), objectified body consciousness (body surveillance, body shame, stature surveillance), and stature concerns. In multiple regression models for each gender, appearance pressure from the mass media and stature surveillance were robust predictors of stature concerns for both genders, independent of reported height. Body surveillance predicted stature concerns for women but not men. These findings contribute to the broader field of multicultural body image research and may help to account for specific culturally salient appearance concerns within samples of young Chinese women and men.

Biological Conditions and Economic Development: Nineteenth-Century Stature on the U.S. Great Plains.

PubMed

Carson, Scott Alan

2015-06-01

Average stature is now a well-accepted measure of material and economic well-being in development studies when traditional measures are sparse or unreliable, but little work has been done on the biological conditions for individuals on the nineteenth-century U.S. Great Plains. Records of 14,427 inmates from the Nebraska state prison are used to examine the relationship between stature and economic conditions. Statures of both black and white prisoners in Nebraska increased through time, indicating that biological conditions improved as Nebraska's output market and agricultural sectors developed. The effect of rural environments on stature is illustrated by the fact that farm laborers were taller than common laborers. Urbanization and industrialization had significant impacts on stature, and proximity to trade routes and waterways was inversely related to stature.

Estimation of body mass index from the metrics of the first metatarsal

NASA Astrophysics Data System (ADS)

Dunn, Tyler E.

Estimation of the biological profile from as many skeletal elements as possible is a necessity in both forensic and bioarchaeological contexts; this includes non-standard aspects of the biological profile, such as body mass index (BMI). BMI is a measure that allows for understanding of the composition of an individual and is traditionally divided into four groups: underweight, normal weight, overweight, and obese. BMI estimation incorporates both estimation of stature and body mass. The estimation of stature from skeletal elements is commonly included into the standard biological profile but the estimation of body mass needs to be further statistically validated to be consistently included. The bones of the foot, specifically the first metatarsal, may have the ability to estimate BMI given an allometric relationship to stature and the mechanical relationship to body mass. There are two commonly used methods for stature estimation, the anatomical method and the regression method. The anatomical method takes into account all of the skeletal elements that contribute to stature while the regression method relies on the allometric relationship between a skeletal element and living stature. A correlation between the metrics of the first metatarsal and living stature has been observed, and proposed as a method for valid stature estimation from the boney foot (Byers et al., 1989). Body mass estimation from skeletal elements relies on two theoretical frameworks: the morphometric and the mechanical approaches. The morphometric approach relies on the size relationship of the individual to body mass; the basic relationship between volume, density, and weight allows for body mass estimation. The body is thought of as a cylinder, and in order to understand the volume of this cylinder the diameter is needed. A commonly used proxy for this in the human body is skeletal bi-iliac breadth from rearticulated pelvic girdle. The mechanical method of body mass estimation relies on the ideas of biomechanical bone remodeling; the elements of the skeleton that are under higher forces, including weight, will remodel to minimize stress. A commonly used metric for the mechanical method of body mass estimation is the diameter of the head of the femur. The foot experiences nearly the entire weight force of the individual at any point in the gait cycle and is subject to the biomechanical remodeling that this force would induce. Therefore, the application of the mechanical framework for body mass estimation could stand true for the elements of the foot. The morphometric and mechanical approaches have been validated against one another on a large, geographically disparate population (Auerbach and Ruff, 2004), but have yet to be validated on a sample of known body mass. DeGroote and Humphrey (2011) test the ability of the first metatarsal to estimate femoral head diameter, body mass, and femoral length. The estimated femoral head diameter from the first metatarsal is used to estimate body mass via the morphometric approach and the femoral length is used to estimate living stature. The authors find that body mass and stature estimation methods from more commonly used skeletal elements compared well with the methods developed from the first metatarsal. This study examines 388 `White' individuals from the William M. Bass donated skeletal collection to test the reliability of the body mass estimates from femoral head diameter and bi-iliac breadth, stature from maximum femoral length, and body mass and stature from the metrics of the first metatarsal. This sample included individuals from all four of the BMI classes. This study finds that all of the skeletal indicators compare well with one another; there is no statistical difference in the stature estimates from the first metatarsal and the maximum length of the femur, and there is no statistical between all three of the body mass estimation methods. When compared to the forensic estimates of stature neither of the tested methods had statistical difference. Conversely, when the body mass estimates are compared to forensic body mass there was a statistical difference and when further investigated the most difference in the body mass estimates was in the extremes of body mass (the underweight and obese categories). These findings indicate that the estimation of stature from both the maximum femoral length and the metrics of the metatarsal are accurate methods. Furthermore, the estimation of body mass is accurate when the individual is in the middle range of the BMI spectrum while these methods for outlying individuals are inaccurate. These findings have implications for the application of stature and body mass estimation in the fields of bioarchaeology, forensic anthropology, and paleoanthropology.

Changing patterns of social variation in stature in Poland: effects of transition from a command economy to the free-market system?

PubMed

Bielicki, T; Szklarska, A; Kozieł, S; Ulijaszek, S J

2005-07-01

The aim of this analysis was to examine the effects on stature in two nationally representative samples of Polish 19-year-old conscripts of maternal and paternal education level, and of degree of urbanization, before and after the economic transition of 1990. Data were from two national surveys of 19-year-old Polish conscripts: 27,236 in 1986 and 28,151 in 2001. In addition to taking height measurements, each subject was asked about the socioeconomic background of their families, including paternal and maternal education, and the name of the locality of residence. The net effect of each of these social factors on stature was determined using four-factor analysis of variance. The secular trend towards increased stature of Polish conscripts has slowed down from a rate 2.1 cm per decade across the period 1965-1986 to 1.5 cm per decade between 1986 and 2001. In both cohorts, mean statures increase with increasing size of locality of residence, paternal education and maternal education. The effect of each of these three social factors on conscript height is highly significant in both cohorts. However, the effect of maternal education has increased substantially while that of size of locality of residence and paternal education diminished between 1986 and 2001. These results imply that the influence of parental education on child growth cannot be due solely to a relationship between education and income, but is also perhaps a reflection of household financial management which benefits child health and growth by better educated parents, regardless of level of income. In addition they suggest that, irrespective of whether there are one or two breadwinners in the family, it is the mother, more so than the father, who is principally responsible for the extent to which such management best favours child health and growth. The asymmetry between the importance of maternal as against paternal education for child growth, clearly seen in the 1986 cohort, became more accentuated in 2001, after the abrupt transition from a command to a free-market economy in the early 1990s.

Birth month associations with height, head circumference, and limb lengths among Peruvian children.

PubMed

Pomeroy, Emma; Wells, Jonathan C K; Stanojevic, Sanja; Miranda, J Jaime; Cole, Tim J; Stock, Jay T

2014-05-01

Associations between season of birth and body size, morbidity, and mortality have been widely documented, but it is unclear whether different parts of the body are differentially sensitive, and if such effects persist through childhood. This may be relevant to understanding the relationship between early life environment and body size and proportions. We investigated associations between birth month and anthropometry among rural highland (n = 162) and urban lowland (n = 184) Peruvian children aged 6 months to 8 years. Stature; head-trunk height; total limb, ulna, tibia, hand, and foot lengths; head circumference; and limb measurements relative to head-trunk height were converted to internal age-sex-specific z scores. Lowland and highland datasets were then analyzed separately for birth month trends using cosinor analysis, as urban conditions likely provide a more consistent environment compared with anticipated seasonal variation in the rural highlands. Among highland children birth month associations were significant most strongly for tibia length, followed by total lower limb length and stature, with a peak among November births. Results were not significant for other measurements or among lowland children. The results suggest a prenatal or early postnatal environmental effect on growth that is more marked in limb lengths than trunk length or head size, and persists across the age range studied. We suggest that the results may reflect seasonal variation in maternal nutrition in the rural highlands, but other hypotheses such as variation in maternal vitamin D levels cannot be excluded. Copyright © 2014 Wiley Periodicals, Inc.

A genetic approach to evaluation of short stature of undetermined cause.

PubMed

Murray, Philip G; Clayton, Peter E; Chernausek, Steven D

2018-01-31

Short stature is a common presentation to paediatric endocrinologists. After exclusion of major endocrine or systemic disease, most children with short stature are diagnosed based on a description of their growth pattern and the height of their parents (eg, familial short stature). Height is a polygenic trait and genome-wide association studies have identified many of the associated genetic loci. Here we review the application of genetic studies, including copy number variant analysis, targeted gene panels, and whole-exome sequencing in children with idiopathic short stature. We estimate 25-40% of children diagnosed with idiopathic short stature could receive a molecular diagnosis using these technologies. A molecular diagnosis for short stature is important for affected individuals and their families and might inform treatment decisions surrounding use of growth hormone or insulin-like growth factor 1 therapy. Copyright © 2018 Elsevier Ltd. All rights reserved.

How to investigate a child with excessive growth?

PubMed

Coutant, Régis; Donzeau, Aurélie; Decrequy, Anne; Louvigné, Mathilde; Bouhours-Nouet, Natacha

2017-06-01

The diagnostic approach to tall stature in children is based on collecting birth data (macrosomia), sizes and family puberty, a family history of constitutional or pathological tall stature, search for a delay of development, dysmorphia, disproportion, analysis of the growth velocity (normal or accelerated), general examination and assessment of puberty, and bone age. When there is a history of psychomotor retardation, a family history of pathological tall stature, or a disproportion in the clinical examination, the genetic causes of tall stature will be mentioned. The most frequent causes are Marfan syndrome and similar, Sotos syndrome, Beckwith-Wiedemann syndrome, Klinefelter syndrome, and MEN2B. There are many genetic syndromes with tall stature, justifying consultation with the geneticist. When the speed of growth is accelerated, first of all it evokes puberty and early pseudopuberty, obesity and acromegaly. Finally, when the growth velocity is regular, and the parents are of tall stature, it evokes constitutional tall stature: this is the most frequent diagnosis, to retain after having rejected pathological tall statures. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].

PubMed

Jorge, Alexander A L; Nishi, Mirian Y; Funari, Mariana F A; Souza, Silvia C; Arnhold, Ivo J P; Mendonça, Berenice B

2008-07-01

Studies involving patients with short stature and partial deletion of sex chromosomes identified SHOX gene in the pseudoautosomal region of the X and Y chromosomes. SHOX haploinsufficiency is an important cause of short stature in a diversity of clinical conditions. It explains 2/3 of short stature observed in Turner syndrome (TS) patients. Heterozygous mutations in SHOX are observed in 77% of patients with Leri-Weill dyschondrosteosis, a common dominant inherited skeletal dysplasia and in 3% of children with idiopathic short stature, indicating that SHOX defects are the most frequent monogenetic cause of short stature. The sitting height/height ratio (SH/H) standard deviation score is a simple way to assess body proportions and together with a careful exam of other family members, effectively selected a group of patients that presented a high frequency of SHOX mutations. Growth hormone treatment of short stature due to TS is well established and considering the common etiology of short stature in patients with isolated defects of SHOX gene, this treatment is also proposed for these patients. Here, we review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency.

From early farmers to Norman Borlaug - the making of modern wheat.

PubMed

Vergauwen, David; De Smet, Ive

2017-09-11

If we wander through the countryside, passing fields of wheat, it is apparent that this crop is reasonably short in stature and that the stems carry large ears. However, this was not always the case. If we take a look at depictions of wheat throughout history, we observe that wheat used to be fairly tall. It was not until the second half of the 20 th century that dwarf wheat varieties started to dominate the agricultural landscape. Underlying this short stature are the Reduced height (Rht) genes, which encode DELLA proteins and which formed the cornerstone of the Green Revolution. Copyright © 2017 Elsevier Ltd. All rights reserved.

Causes of short stature in Pakistani children found at an Endocrine Center

PubMed Central

Jawa, Ali; Riaz, Syed Hunain; Khan Assir, Muhammad Zaman; Afreen, Bahjat; Riaz, Amna; Akram, Javed

2016-01-01

Background and Objective: Short stature is defined as height below 3rd centile. Causes of short stature can range from familial, endocrine disorders, chronic diseases to chromosomal disorders. Most common cause in literature being idiopathic short stature. Early detection and management of remedial disorders like malnutrition and vitamin D deficiency, Endocrine disorders like growth hormone deficiency & hypothyroidism can lead to attainment of expected height. Pakistani data shows idiopathic short stature as the most common cause of short stature. Our study aimed at detecting causes of short stature in children/adolescents at an Endocrine referral center. Methods: A retrospective study was conducted at WILCARE Center for Diabetes, Endocrinology & Metabolism, Lahore on 70 well-nourished children/adolescents. The patients had been evaluated clinically, biochemically and radiologically as needed. Biochemical testing included hormonal testing as well to detect endocrine causes. Data was entered and analyzed in SPSS 20.0. Results: Leading cause of short stature in our population was Growth Hormone (GH) deficiency seen in 48 out of 70 (69%) patients. Second most common endocrine abnormality seen in these patients was Vitamin D deficiency [44 out of 70 patients (63%)]. Primary hypothyroidism; pan-hypopituitarism & adrenal insufficiency were other endocrine causes. The weight for age was below 3rd percentile in 57 (81%) patients, with no association with other major causes. Conclusion: Growth hormone and Vitamin D deficiency constitute one of the major causes of short stature among well-nourished children with short stature in Pakistan. PMID:28083018

Stature Estimation from Lower Limb Anthropometry using Linear Regression Analysis: A Study on the Malaysian Population.

PubMed

Abu Bakar, S N; Aspalilah, A; AbdelNasser, I; Nurliza, A; Hairuliza, M J; Swarhib, M; Das, S; Mohd Nor, F

2017-01-01

Stature is one of the characteristics that could be used to identify human, besides age, sex and racial affiliation. This is useful when the body found is either dismembered, mutilated or even decomposed, and helps in narrowing down the missing person's identity. The main aim of the present study was to construct regression functions for stature estimation by using lower limb bones in the Malaysian population. The sample comprised 87 adult individuals (81 males, 6 females) aged between 20 to 79 years. The parameters such as thigh length, lower leg length, leg length, foot length, foot height and foot breadth were measured. They were measured by a ruler and measuring tape. Statistical analysis involved independent t-test to analyse the difference between lower limbs in male and female. The Pearson's correlation test was used to analyse correlations between lower limb parameters and stature, and the linear regressions were used to form equations. The paired t-test was used to compare between actual stature and estimated stature by using the equations formed. Using independent t-test, there was a significant difference (p< 0.05) in the measurement between males and females with regard to leg length, thigh length, lower leg length, foot length and foot breadth. The thigh length, leg length and foot length were observed to have strong correlations with stature with p= 0.75, p= 0.81 and p= 0.69, respectively. Linear regressions were formulated for stature estimation. Paired t-test showed no significant difference between actual stature and estimated stature. It is concluded that regression functions can be used to estimate stature to identify skeletal remains in the Malaysia population.

A novel variant of FGFR3 causes proportionate short stature.

PubMed

Kant, Sarina G; Cervenkova, Iveta; Balek, Lukas; Trantirek, Lukas; Santen, Gijs W E; de Vries, Martine C; van Duyvenvoorde, Hermine A; van der Wielen, Michiel J R; Verkerk, Annemieke J M H; Uitterlinden, André G; Hannema, Sabine E; Wit, Jan M; Oostdijk, Wilma; Krejci, Pavel; Losekoot, Monique

2015-06-01

Mutations of the fibroblast growth factor receptor 3 (FGFR3) cause various forms of short stature, of which the least severe phenotype is hypochondroplasia, mainly characterized by disproportionate short stature. Testing for an FGFR3 mutation is currently not part of routine diagnostic testing in children with short stature without disproportion. A three-generation family A with dominantly transmitted proportionate short stature was studied by whole-exome sequencing to identify the causal gene mutation. Functional studies and protein modeling studies were performed to confirm the pathogenicity of the mutation found in FGFR3. We performed Sanger sequencing in a second family B with dominant proportionate short stature and identified a rare variant in FGFR3. Exome sequencing and/or Sanger sequencing was performed, followed by functional studies using transfection of the mutant FGFR3 into cultured cells; homology modeling was used to construct a three-dimensional model of the two FGFR3 variants. A novel p.M528I mutation in FGFR3 was detected in family A, which segregates with short stature and proved to be activating in vitro. In family B, a rare variant (p.F384L) was found in FGFR3, which did not segregate with short stature and showed normal functionality in vitro compared with WT. Proportionate short stature can be caused by a mutation in FGFR3. Sequencing of this gene can be considered in patients with short stature, especially when there is an autosomal dominant pattern of inheritance. However, functional studies and segregation studies should be performed before concluding that a variant is pathogenic. © 2015 European Society of Endocrinology.

Methods for estimating missing human skeletal element osteometric dimensions employed in the revised fully technique for estimating stature.

PubMed

Auerbach, Benjamin M

2011-05-01

One of the greatest limitations to the application of the revised Fully anatomical stature estimation method is the inability to measure some of the skeletal elements required in its calculation. These element dimensions cannot be obtained due to taphonomic factors, incomplete excavation, or disease processes, and result in missing data. This study examines methods of imputing these missing dimensions using observable Fully measurements from the skeleton and the accuracy of incorporating these missing element estimations into anatomical stature reconstruction. These are further assessed against stature estimations obtained from mathematical regression formulae for the lower limb bones (femur and tibia). Two thousand seven hundred and seventeen North and South American indigenous skeletons were measured, and subsets of these with observable Fully dimensions were used to simulate missing elements and create estimation methods and equations. Comparisons were made directly between anatomically reconstructed statures and mathematically derived statures, as well as with anatomically derived statures with imputed missing dimensions. These analyses demonstrate that, while mathematical stature estimations are more accurate, anatomical statures incorporating missing dimensions are not appreciably less accurate and are more precise. The anatomical stature estimation method using imputed missing dimensions is supported. Missing element estimation, however, is limited to the vertebral column (only when lumbar vertebrae are present) and to talocalcaneal height (only when femora and tibiae are present). Crania, entire vertebral columns, and femoral or tibial lengths cannot be reliably estimated. Further discussion of the applicability of these methods is discussed. Copyright © 2011 Wiley-Liss, Inc.

Higher Education and the Public Trust: Improving Stature in Colleges and Universities. ASHE-ERIC Higher Education Report No. 6.

ERIC Educational Resources Information Center

Alfred, Richard L.; Weissman, Julie

Institutional stature, its development and determination, and strategies for its enhancement in colleges and universities are discussed. Focus is on the fundamental dimensions of stature, how it is affected by the external environment, and what colleges can do to improve it. Chapters are as follow: "Definition and Dimensions of Stature" (higher…

Psychosocial short stature with psychosis: a case report.

PubMed

Wattchow, Naomi; Lee, Hsu-En; Brock, Philip

2015-02-01

Our objective was to report and describe a case of psychosocial short stature in an adolescent girl with psychotic features. Psychosocial short stature is a rare condition in which emotional stress or deprivation in childhood profoundly reduces growth, leading to persistent short stature. This disorder is variably known as psychosocial dwarfism, hyperphagic short stature or maternal deprivation dwarfism. In the literature, psychosocial short stature has not been associated previously with psychosis. We formulate that our patient's short stature, developmental regression and psychotic features were culminations of insecure mother-child attachment, personal traumatic experiences, immigrant status, high family expressed emotions and social isolation. Neuropsychiatric influences were critically regarded due to our patient's fluctuations in behaviour and affect, in the setting of cortical volume loss on brain MRI. Diagnostic hypotheses included childhood disintegrative disorder or childhood-onset schizophrenia. The management plan involved inpatient family psychoeducation, a pharmacological trial with an atypical antipsychotic and community mental health service follow-up for family therapy and psychotherapy. © The Royal Australian and New Zealand College of Psychiatrists 2014.

Nineteenth century Mexican statures in the United States and their relationship with insolation and vitamin D.

PubMed

Carson, Scott Alan

2010-01-01

The use of height data to measure living standards is now a well-established method in economics. However, there are still some populations, places and times for which the comparison across groups remains unclear. One example is 19th century Mexicans in the US. This study demonstrates that after comparing the statures of Mexicans born in Mexico and the US the primary source of the stature difference between the two groups was birth year, and the stature gap increased as the US economy developed while the Mexican economy stagnated. Moreover, the stature growth of Mexicans born in the US was related to vitamin D, and the Mexican relationship between stature and insolation was more like that of Europeans than Africans.

Estimation of stature from the foot and its segments in a sub-adult female population of North India

PubMed Central

2011-01-01

Background Establishing personal identity is one of the main concerns in forensic investigations. Estimation of stature forms a basic domain of the investigation process in unknown and co-mingled human remains in forensic anthropology case work. The objective of the present study was to set up standards for estimation of stature from the foot and its segments in a sub-adult female population. Methods The sample for the study constituted 149 young females from the Northern part of India. The participants were aged between 13 and 18 years. Besides stature, seven anthropometric measurements that included length of the foot from each toe (T1, T2, T3, T4, and T5 respectively), foot breadth at ball (BBAL) and foot breadth at heel (BHEL) were measured on both feet in each participant using standard methods and techniques. Results The results indicated that statistically significant differences (p < 0.05) between left and right feet occur in both the foot breadth measurements (BBAL and BHEL). Foot length measurements (T1 to T5 lengths) did not show any statistically significant bilateral asymmetry. The correlation between stature and all the foot measurements was found to be positive and statistically significant (p-value < 0.001). Linear regression models and multiple regression models were derived for estimation of stature from the measurements of the foot. The present study indicates that anthropometric measurements of foot and its segments are valuable in the estimation of stature. Foot length measurements estimate stature with greater accuracy when compared to foot breadth measurements. Conclusions The present study concluded that foot measurements have a strong relationship with stature in the sub-adult female population of North India. Hence, the stature of an individual can be successfully estimated from the foot and its segments using different regression models derived in the study. The regression models derived in the study may be applied successfully for the estimation of stature in sub-adult females, whenever foot remains are brought for forensic examination. Stepwise multiple regression models tend to estimate stature more accurately than linear regression models in female sub-adults. PMID:22104433

Estimation of stature from the foot and its segments in a sub-adult female population of North India.

PubMed

Krishan, Kewal; Kanchan, Tanuj; Passi, Neelam

2011-11-21

Establishing personal identity is one of the main concerns in forensic investigations. Estimation of stature forms a basic domain of the investigation process in unknown and co-mingled human remains in forensic anthropology case work. The objective of the present study was to set up standards for estimation of stature from the foot and its segments in a sub-adult female population. The sample for the study constituted 149 young females from the Northern part of India. The participants were aged between 13 and 18 years. Besides stature, seven anthropometric measurements that included length of the foot from each toe (T1, T2, T3, T4, and T5 respectively), foot breadth at ball (BBAL) and foot breadth at heel (BHEL) were measured on both feet in each participant using standard methods and techniques. The results indicated that statistically significant differences (p < 0.05) between left and right feet occur in both the foot breadth measurements (BBAL and BHEL). Foot length measurements (T1 to T5 lengths) did not show any statistically significant bilateral asymmetry. The correlation between stature and all the foot measurements was found to be positive and statistically significant (p-value < 0.001). Linear regression models and multiple regression models were derived for estimation of stature from the measurements of the foot. The present study indicates that anthropometric measurements of foot and its segments are valuable in the estimation of stature. Foot length measurements estimate stature with greater accuracy when compared to foot breadth measurements. The present study concluded that foot measurements have a strong relationship with stature in the sub-adult female population of North India. Hence, the stature of an individual can be successfully estimated from the foot and its segments using different regression models derived in the study. The regression models derived in the study may be applied successfully for the estimation of stature in sub-adult females, whenever foot remains are brought for forensic examination. Stepwise multiple regression models tend to estimate stature more accurately than linear regression models in female sub-adults.

Can stature be estimated from tooth crown dimensions? A study in a sample of South-East Asians.

PubMed

Hossain, Mohammad Zakir; Munawar, Khalil M M; Rahim, Zubaidah H A; Bakri, Marina Mohd

2016-04-01

Stature estimation is an important step during medico-legal and forensic examination. Difficulty arises when highly decomposed and mutilated dead bodies with fragmentary remains are brought for forensic identification like in mass disaster or airplane crash. The body remains could be just a jaw with some teeth. The objective of this study was to explore if the stature of an individual can be determined from the tooth crown dimensions. A total of 201 volunteers participated in this study. The stature and clinical crown dimensions (length, mesiodistal and labiolingual diameters) of maxillary anterior teeth were measured. Correlation between crown dimensions and stature was analyzed by Pearson correlation test. Regression analysis was used to get equations for estimation of stature from crown measurements. The regression equations were applied in the same sample of volunteers that was used to obtain the equations. The reliability and accuracy of the equations were checked in another sample of volunteers. Length and mesiodistal diameter of the crown of central incisors and canines showed significant albeit low to moderate correlations (0.35-0.45) with the stature. The correlation co-efficient values were higher (as high as 0.537) when summation of the measurements was taken for analysis. The regression equations when applied to the same and a test sample of volunteers revealed that differences between actual and estimated stature can be as low as 0.01 to as much as 16.50cm. The findings suggest that although there are some degrees of positive correlations between stature and tooth crown dimensions, stature estimation from the tooth crown dimensions cannot provide the accuracy of estimation as required in forensic situations. The stature estimation accuracy using tooth crown dimensions is comparable to that of cephalo-facial dimensions but inferior to that of long bones. Copyright © 2016 Elsevier Ltd. All rights reserved.

Do group-specific equations provide the best estimates of stature?

PubMed

Albanese, John; Osley, Stephanie E; Tuck, Andrew

2016-04-01

An estimate of stature can be used by a forensic anthropologist with the preliminary identification of an unknown individual when human skeletal remains are recovered. Fordisc is a computer application that can be used to estimate stature; like many other methods it requires the user to assign an unknown individual to a specific group defined by sex, race/ancestry, and century of birth before an equation is applied. The assumption is that a group-specific equation controls for group differences and should provide the best results most often. In this paper we assess the utility and benefits of using group-specific equations to estimate stature using Fordisc. Using the maximum length of the humerus and the maximum length of the femur from individuals with documented stature, we address the question: Do sex-, race/ancestry- and century-specific stature equations provide the best results when estimating stature? The data for our sample of 19th Century White males (n=28) were entered into Fordisc and stature was estimated using 22 different equation options for a total of 616 trials: 19th and 20th Century Black males, 19th and 20th Century Black females, 19th and 20th Century White females, 19th and 20th Century White males, 19th and 20th Century any, and 20th Century Hispanic males. The equations were assessed for utility in any one case (how many times the estimated range bracketed the documented stature) and in aggregate using 1-way ANOVA and other approaches. This group-specific equation that should have provided the best results was outperformed by several other equations for both the femur and humerus. These results suggest that group-specific equations do not provide better results for estimating stature while at the same time are more difficult to apply because an unknown must be allocated to a given group before stature can be estimated. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Body size and growth: the significance of chronic malnutrition among the Casiguran Agta.

PubMed

De Souza, Roberta G

2006-01-01

The Agta are a short statured, hunter-gatherer population who have been living under demographic and environmental stress. This article shows the influence of these factors and the resulting nutritional deficiency on the anthropometric measurements and mortality of Agta individuals. The joint analysis of cross-sectional measurements of Agta children and adults and of the mortality schedules in this population aims to stress the influence of environmental pressures on the ongoing evolution of short stature. Recumbent length, height, weight, mid-upper arm circumference, and triceps skinfolds were taken using standard methods from a total of 253 Agta individuals. Exact or nearly exact ages were taken from a long-term demographic database. z-Scores and growth curves were calculated using the NutStat program and 2000 CDC reference. Mortality schedules are from published material, improved through interviews in the field. Agta individuals are both short and thin when compared to other populations. Thirty-four per cent of the adults are under-nourished, while 17% of the children are wasted, according to international standards. A major and delayed peak of mortality in early infancy overlaps with a period of average decrease in body length in relation to the reference. Demographic indicators of poor health-related quality of life are consistent with slowed patterns of growth observed, stressing the importance of environmental pressure in maintaining the short stature of the Agta population.

Prevalence of short stature in Saudi children and adolescents

PubMed Central

El Mouzan, Mohammad I.; Al Herbish, Abdullah S.; Al Salloum, Abdullah A.; Foster, Peter J.; Al Omer, Ahmad A.; Qurachi, Mansour M.

2011-01-01

BACKGROUND AND OBJECTIVE: Data on stature in Saudi children and adolescents are limited. The objective of this report was to establish the national prevalence of short stature in Saudi children and adolescents. DESIGN AND SETTING: Community-based, cross-sectional study conducted over 2 years (2004, 2005) PATIENTS AND METHODS: The national data set of the Saudi reference was used to calculate the stature for age for children and adolescents 5 to 18 years of age. Using the 2007 World Health Organization (WHO) reference, the prevalence of moderate and severe short stature was defined as the proportion of children whose standard deviation score for stature for age was less than -2 and -3, respectively. In addition, the 2000 Center for Disease Control (CDC) and the older 1978 National Center for Health Statistics (NCHS)/WHO references were used for comparison. RESULTS: Using the 2007 WHO reference, sample size in the Saudi reference was 19 372 healthy children and adolescents 5 to 17 years of age, with 50.8% being boys. The overall prevalence of moderate and severe short stature in boys was 11.3% and 1.8%, respectively; and in girls, 10.5% and 1.2%, respectively. The prevalence of moderate short stature was 12.1%, 11% and 11.3% in boys and 10.9%, 11.3% and 10.5% in girls when the 1978 WHO, the 2000 CDC and the 2007 WHO references were used, respectively. CONCLUSIONS: The national prevalence of short stature in Saudi children and adolescents is intermediate compared with the international level. Improvement in the socioeconomic and health status of children and adolescents should lead to a reduction in the prevalence of short stature. PMID:21911988

Stature estimation from the lengths of the growing foot-a study on North Indian adolescents.

PubMed

Krishan, Kewal; Kanchan, Tanuj; Passi, Neelam; DiMaggio, John A

2012-12-01

Stature estimation is considered as one of the basic parameters of the investigation process in unknown and commingled human remains in medico-legal case work. Race, age and sex are the other parameters which help in this process. Stature estimation is of the utmost importance as it completes the biological profile of a person along with the other three parameters of identification. The present research is intended to formulate standards for stature estimation from foot dimensions in adolescent males from North India and study the pattern of foot growth during the growing years. 154 male adolescents from the Northern part of India were included in the study. Besides stature, five anthropometric measurements that included the length of the foot from each toe (T1, T2, T3, T4, and T5 respectively) to pternion were measured on each foot. The data was analyzed statistically using Student's t-test, Pearson's correlation, linear and multiple regression analysis for estimation of stature and growth of foot during ages 13-18 years. Correlation coefficients between stature and all the foot measurements were found to be highly significant and positively correlated. Linear regression models and multiple regression models (with age as a co-variable) were derived for estimation of stature from the different measurements of the foot. Multiple regression models (with age as a co-variable) estimate stature with greater accuracy than the regression models for 13-18 years age group. The study shows the growth pattern of feet in North Indian adolescents and indicates that anthropometric measurements of the foot and its segments are valuable in estimation of stature in growing individuals of that population. Copyright © 2012 Elsevier Ltd. All rights reserved.

Secular change in adult stature associated with modernization in Vanuatu.

PubMed

Olszowy, Kathryn M; Sun, Cheng; Silverman, Harold; Pomer, Alysa; Dancause, Kelsey N; Chan, Chim W; Lee, Gwang; Tarivonda, Len; Kaneko, Akira; Weitz, Charles; Koji Lum, J; Garruto, Ralph M

2017-09-10

To determine whether: (1) there is a secular increase in adult stature in Vanuatu, and (2) whether adult stature is positively associated with modernization in Vanuatu. This study reports on stature measurements collected on 650 adult (age > 17 years) men and women from four islands of varying economic development in Vanuatu. Measurements were collected as part of the Vanuatu Health Transitions Research Project in 2007 and 2011. Stature increased significantly in adults born between the 1940s and 1960s in Vanuatu, before leveling off in those born between the 1970s and 1990s. Adults are significantly taller on Efate, the most modernized island in the study sample, than on the less economically developed islands. Modernization is likely associated with improvements in child growth in Vanuatu, as assessed by gains in adult stature. © 2017 Wiley Periodicals, Inc.

Estimation of stature from sternal lengths. A correlation meta-analysis.

PubMed

Yammine, Kaissar; Assi, Chahine

2017-01-01

Methods based on the positive linear relationship existing between stature and long bones are most commonly used to estimate living stature in forensic anthropology. The length of the sternum and its parts has been advanced as a plausible alternative to estimate stature when such long bones are missing or damaged. This meta-analysis aims to quantify evidence on the correlation between the sternum/sternal parts length and stature. Nine studies were included with 1118 sternal bones. Analyses showed that the length of the meso-sternum (manubrium + body) yielded the best correlation with stature; 53.5% and 55.42% for men and women, respectively. The second best variable is the total sternal length with correlations of 44.3% and 55% for men and women, respectively. Subgroup analysis of autopsy studies demonstrated even a higher correlation of 58.2% for the meso-sternal length. Manubrium and body lengths showed the least correlation values. Except for the body length, females exhibit a better correlation than man between all other sternal lengths and stature. While the meso-sternal length is found to be the most correlated variable with stature, all sternal lengths are to be considered with caution when estimating stature. The relatively low values of the weighted correlation results should raise the question of reliability and limit the use of sternal length when long bones are available. Future research using larger samples from different populations and taking into account the fusion status of the sternum are needed.

Excessive growth.

PubMed

Narayanaswamy, Vasudha; Rettig, Kenneth R; Bhowmick, Samar K

2008-09-01

Tall stature and excessive growth syndrome are a relatively rare concern in pediatric practice. Nevertheless, it is important to identify abnormal accelerated growth patterns in children, which may be the clue in the diagnosis of an underlying disorder. We present a case of pituitary gigantism in a 2 1/2-year-old child and discuss the signs, symptoms, laboratory findings, and the treatment. Brief discussions on the differential diagnosis of excessive growth/tall stature have been outlined. Pituitary gigantism is very rare in the pediatrics age group; however, it is extremely rare in a child that is less than 3 years of age. The nature of pituitary adenoma and treatment options in children with this condition have also been discussed.

Maternal long chain polyunsaturated fatty acid supplementation in infancy increases length- and weight-for-age but not BMI to 6 years when controlling for effects of maternal smoking

PubMed Central

Currie, L.M.; Tolley, E.A.; Thodosoff, J.M.; Kerling, E.H.; Sullivan, D.K.; Colombo, J.; Carlson, S.E.

2015-01-01

Summary Long chain polyunsaturated fatty acids (LCPUFA) are added to infant formula but their effect on long-term growth of children is under studied. We evaluated the effects of feeding LCPUFA-supplemented formula (n=54) compared to control formula (n=15) throughout infancy on growth from birth-6 years. Growth was described using separate models developed with the MIXED procedure of SAS® that included maternal smoking history and gender. Compared to children fed control formula, children who consumed LCPUFA supplemented formula had higher length-/stature-/and weight-for-age percentiles but not body mass index (BMI) percentile from birth to 6 years. Maternal smoking predicted lower stature (2-6 years), higher weight-for-length (birth-18 months) and BMI percentile (2-6 years) independent of LCPUFA effects. Gender interacted with the effect of LCPUFA on stature, and the relationship between smoking and BMI, with a larger effect for boys. Energy intake did not explain growth differences. A relatively small control sample is a limitation. PMID:25936840

Measuring agreement between cervical vertebrae and hand-wrist maturation in determining skeletal age: reassessing the theory in patients with short stature.

PubMed

Danaei, Shahla Momeni; Karamifar, Amirali; Sardarian, Ahmadreza; Shahidi, Shoaleh; Karamifar, Hamdollah; Alipour, Abbas; Ghodsi Boushehri, Sahar

2014-09-01

The objective of this study was to determine the degree of agreement between hand-wrist radiography and cervical vertebral maturation analysis in patients diagnosed with short stature. A cross-sectional study was designed; 178 patients (90 girls, 88 boys) diagnosed with short stature and seeking treatment were selected. The patients were divided into 2 groups (76 with familial short stature, 102 with nonfamilial short stature). Hand-wrist and lateral cephalometric radiographs were obtained from the patients. The hand-wrist radiographs were analyzed using the Fishman method, and the lateral cephalometric views were categorized according to the method of Hassel and Farman. The degree of agreement between the 2 methods of predicting skeletal maturation was measured by calculating the contingency coefficient and the weighted kappa statistic. A high degree of agreement was observed between the 2 methods of analyzing skeletal maturation. It was also observed that agreement was higher in girls in the familial short-stature group, whereas boys had higher agreement in the nonfamilial short-stature group. Cervical vertebral maturation can be a valuable substitute for hand-wrist radiography in patients with short stature. Copyright © 2014 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

Detecting selection signatures between Duroc and Duroc synthetic pig populations using high-density SNP chip.

PubMed

Edea, Z; Hong, J-K; Jung, J-H; Kim, D-W; Kim, Y-M; Kim, E-S; Shin, S S; Jung, Y C; Kim, K-S

2017-08-01

The development of high throughput genotyping techniques has facilitated the identification of selection signatures of pigs. The detection of genomic selection signals in a population subjected to differential selection pressures may provide insights into the genes associated with economically and biologically important traits. To identify genomic regions under selection, we genotyped 488 Duroc (D) pigs and 155 D × Korean native pigs (DKNPs) using the Porcine SNP70K BeadChip. By applying the F ST and extended haplotype homozygosity (EHH-Rsb) methods, we detected genes under directional selection associated with growth/stature (DOCK7, PLCB4, HS2ST1, FBP2 and TG), carcass and meat quality (TG, COL14A1, FBXO5, NR3C1, SNX7, ARHGAP26 and DPYD), number of teats (LOC100153159 and LRRC1), pigmentation (MME) and ear morphology (SOX5), which are all mostly near or at fixation. These results could be a basis for investigating the underlying mutations associated with observed phenotypic variation. Validation using genome-wide association analysis would also facilitate the inclusion of some of these markers in genetic evaluation programs. © 2017 Stichting International Foundation for Animal Genetics.

Debate: idiopathic short stature should be treated with growth hormone.

PubMed

Ambler, Geoffrey R; Fairchild, Jan; Wilkinson, Dominic J C

2013-03-01

In this paper we outline the case for and against the treatment of idiopathic short stature with growth hormone. Drs Ambler and Fairchild argue that many of those with 'idiopathic' short stature are not 'short, normal children' and will ultimately receive molecular diagnoses. They also argue that there is a subset of children who suffer negative psychosocial consequences of their stature for whom growth hormone therapy is effective. Growth hormone has a very good safety record and is likely to be as cost-effective in idiopathic short-stature as in some other conditions that are currently funded. Dr Wilkinson counters that short stature is not associated with physical or psychological illness, and that there is no evidence that growth hormone improves psychological or physical wellbeing. Moreover, growth hormone for idiopathic short stature represents a form of enhancement rather than treatment, and is not a fair use of resources. Socially mediated disadvantage should be treated by attention to prejudice and not by hormone treatment. © 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

PubMed

de Bruin, Christiaan; Finlayson, Courtney; Funari, Mariana F A; Vasques, Gabriela A; Lucheze Freire, Bruna; Lerario, Antonio M; Andrew, Melissa; Hwa, Vivian; Dauber, Andrew; Jorge, Alexander A L

2016-01-01

Acromicric dysplasia (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. Both can result from missense mutations in the transforming growth factor beta 5 domain of the fibrillin-1 gene (FBN1). Two patients (P1 age 10, and P2 age 7) from unrelated families presented to their endocrinologist with severe short stature (approx. -4 SDS). They were otherwise asymptomatic and only had mild facial dysmorphisms. Extensive endocrine work-up did not reveal an underlying etiology. Exome sequencing was performed in each family. Exome sequencing identified the presence of the same heterozygous missense variant c.C5183T (p.Ala1728Val) in the FBN1 gene in both P1 and P2. This variant was previously reported in a patient with GD2 and associated cardiac valvulopathy and hepatomegaly. Detailed clinical re-examination, cardiac and skeletal imaging did not reveal any abnormalities in P1 or P2 other than mild hip dysplasia. This report broadens the phenotypic spectrum of growth disorders associated with FBN1 mutations. Identical mutations give rise to a wide phenotypic spectrum, ranging from isolated short stature to a more classic picture of GD2 with cardiac involvement, distinct facial dysmorphisms and various skeletal anomalies. © 2016 S. Karger AG, Basel.

Reduced birthweight in short or primiparous mothers: physiological or pathological?

PubMed Central

Zhang, X; Mumford, SL; Cnattingius, S; Schisterman, EF; Kramer, MS

2011-01-01

Objective Customisation of birthweight-for-gestational-age standards for maternal characteristics assumes that variation in birth weight as a result of those characteristics is physiological, rather than pathological. Maternal height and parity are among the characteristics widely assumed to be physiological. Our objective was to test that assumption by using an association with perinatal mortality as evidence of a pathological effect. Design Population-based cohort study. Setting Sweden. Population A total of 952 630 singletons born at ≥28 weeks of gestation in the period 1992–2001. Methods We compared perinatal mortality among mothers of short stature (<160 cm) versus those of normal height (≥160 cm), and primiparous versus multiparous mothers, using an internal reference of estimated fetal weight for gestational age. The total effects of maternal height and parity were estimated, as well as the effects of height and parity independent of birthweight (controlled direct effects). All analyses were based on fetuses at risk, using marginal structural Cox models for the estimation of total and controlled direct effects. Main outcome measures Perinatal mortality, stillbirth, and early neonatal mortality. Results The estimated total effect (HR; 95% CI) of short stature on perinatal death among short mothers was 1.2 (95% CI 1.1–1.3) compared with women of normal height; the effect of short stature independent of birthweight (controlled direct effect) was 0.8 (95% CI 0.6–1.0) among small-for-gestational-age (SGA) births, but 1.1 (95% CI 1.0–1.3) among non-SGA births. Similar results were observed for primiparous mothers. Conclusions The effect of maternal short stature or primiparity on perinatal mortality is partly mediated through SGA birth. Thus, birthweight differences resulting from these maternal characteristics appear not only to be physiological, but also to have an important pathological component. PMID:20618317

Estimation of stature from sternum - Exploring the quadratic models.

PubMed

Saraf, Ashish; Kanchan, Tanuj; Krishan, Kewal; Ateriya, Navneet; Setia, Puneet

2018-04-14

Identification of the dead is significant in examination of unknown, decomposed and mutilated human remains. Establishing the biological profile is the central issue in such a scenario, and stature estimation remains one of the important criteria in this regard. The present study was undertaken to estimate stature from different parts of the sternum. A sample of 100 sterna was obtained from individuals during the medicolegal autopsies. Length of the deceased and various measurements of the sternum were measured. Student's t-test was performed to find the sex differences in stature and sternal measurements included in the study. Correlation between stature and sternal measurements were analysed using Karl Pearson's correlation, and linear and quadratic regression models were derived. All the measurements were found to be significantly larger in males than females. Stature correlated best with the combined length of sternum, among males (R = 0.894), females (R = 0.859), and for the total sample (R = 0.891). The study showed that the models derived for stature estimation from combined length of sternum are likely to give the most accurate estimates of stature in forensic case work when compared to manubrium and mesosternum. Accuracy of stature estimation further increased with quadratic models derived for the mesosternum among males and combined length of sternum among males and females when compared to linear regression models. Future studies in different geographical locations and a larger sample size are proposed to confirm the study observations. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Do centimetres matter? Self-reported versus estimated height measurements in parents.

PubMed

Gozzi, T; Flück, Ce; L'allemand, D; Dattani, M T; Hindmarsh, P C; Mullis, P E

2010-04-01

An impressive discrepancy between reported and measured parental height is often observed. The aims of this study were: (a) to assess whether there is a significant difference between the reported and measured parental height; (b) to focus on the reported and, thereafter, measured height of the partner; (c) to analyse its impact on the calculated target height range. A total of 1542 individual parents were enrolled. The parents were subdivided into three groups: normal height (3-97th Centile), short (<3%) and tall (>97%) stature. Overall, compared with men, women were far better in estimating their own height (p < 0.001). Where both partners were of normal, short or tall stature, the estimated heights of their partner were quite accurate. Women of normal stature underestimated the short partner and overestimated the tall partner, whereas male partners of normal stature overestimated both their short as well as tall partners. Women of tall stature estimated the heights of their short partners correctly, whereas heights of normal statured men were underestimated. On the other hand, tall men overestimated the heights of their female partners who are of normal and short stature. Furthermore, women of short stature estimated the partners of normal stature adequately, and the heights of their tall partners were overestimated. Interestingly, the short men significantly underestimated the normal, but overestimated tall female partners. Only measured heights should be used to perform accurate evaluations of height, particularly when diagnostic tests or treatment interventions are contemplated. For clinical trails, we suggest that only quality measured parental heights are acceptable, as the errors incurred in estimates may enhance/conceal true treatment effects.

Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation.

PubMed

Tatsi, Christina; Gkourogianni, Alexandra; Mohnike, Klaus; DeArment, Diana; Witchel, Selma; Andrade, Anenisia C; Markello, Thomas C; Baron, Jeffrey; Nilsson, Ola; Jee, Youn Hee

2017-08-01

Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN , the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation, and joint disease. The inheritance pattern and the presence of bone age equal to or greater than chronological age have been consistent features, serving as diagnostic clues. From family 1, a 6-year-old boy presented with short stature [height standard deviation score (SDS), -1.75] and bone age advanced by 3 years. There was no family history of short stature (height SDS: father, -0.76; mother, 0.7). Exome sequencing followed by Sanger sequencing identified a de novo novel heterozygous frameshift mutation in ACAN (c.6404delC: p.A2135Dfs). From family 2, a 12-year-old boy was evaluated for short stature (height SDS, -3.9). His bone age at the time of genetic evaluation was approximately 1 year less than his chronological age. Family history was consistent with an autosomal dominant inheritance of short stature, with several affected members also showing early-onset osteoarthritis. Exome sequencing, confirmed by Sanger sequencing, identified a novel nonsense mutation in ACAN (c.4852C>T: p.Q1618X), which cosegregated with the phenotype. In conclusion, patients with ACAN mutations may present with nonfamilial short stature and with bone age less than chronological age. These findings expand the known phenotypic spectrum of heterozygous ACAN mutations and indicate that this diagnosis should be considered in children without a family history of short stature and in children without accelerated skeletal maturation.

Influence of maternal height and weight on low birth weight: a cross-sectional study in poor communities of northeastern Brazil.

PubMed

Britto, Revilane Parente de Alencar; Florêncio, Telma Maria Toledo; Benedito Silva, Ana Amelia; Sesso, Ricardo; Cavalcante, Jairo Calado; Sawaya, Ana Lydia

2013-01-01

Low birth weight (LBW) is associated with an increased risk of mortality, adverse metabolic conditions, and long-term chronic morbidities. The relationship between LWB and short maternal stature coupled with nutritional status was investigated in poor communities. A cross-sectional population-based study involving 2226 mother-child pairs was conducted during the period 2009-2010 in shantytowns of Maceió, Alagoas, Brazil. Associations between LBW and maternal sociodemographics, stature and nutritional status were investigated. The outcome variable was birth weight (< 2500 g and ≥ 2500 g). The independent variables were the age, income, educational background, stature and nutritional status (eutrophic, underweight, overweight and obese) of the mother. The frequency of LBW was 10%. Short-statured mothers (1(st) quartile of stature ≤ 152 cm) showed a tendency of increased risk of LBW children compared to mothers in the 4(th) quartile of stature (>160.4 cm) (OR: 1.42, 95% CI: 0.96 - 1.09, p = 0.078). Children from short-statured mothers weighed an average of 125 g less than those from taller mothers (3.18 ± 0.56 kg vs. 3.30 ± 0.58 kg, respectively p = 0.002). Multivariate analyses showed that short stature, age < 20 y (OR: 3.05, 95% CI:1.44 - 6.47) or were underweight (OR: 2.26, 95% CI:0.92 - 5.95) increased the risk of LBW, while overweight (OR: 0.38, 95% CI:0.16 - 0.95) and obesity (OR: 0.39, 95% CI:0.11 - 1.31) had lower risk for LBW. In taller mothers, lower income and underweight were associated with LBW (OR: 1.88, 95% CI: 1.07 - 3.29 and 2.85, 95% CI:1.09 - 7.47, respectively), and obese mothers showed a trend of increased risk of LBW (OR: 1.66, 95% CI:0.84 - 3.25). Overweight was found to have a protective effect in short-statured mothers, indicating that a surplus of energy may diminish the risk of LBW. Short-statured younger mothers, but not taller ones, showed higher risk of LBW. The mother being underweight, regardless of stature, was associated with LBW.

Potential Cost Savings Associated with a Reduction of Stress Fractures among US Army Basic Trainees

DTIC Science & Technology

1984-07-01

results. 6 The concept of sufficient rest lends support to Scully and Worthen, who suggest incorporating rest periods in the training 14 regimen as a...of stress reactions. In these cases, physical stature apparently 9 had more impact than physical conditioning. The concept of developing criteria...to meet the minimum standard, he/she would be separated. A variation of the corrective conditioning concept has been instituted at Fort Knox. Project

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

PubMed

Fukami, Maki; Naiki, Yasuhiro; Muroya, Koji; Hamajima, Takashi; Soneda, Shun; Horikawa, Reiko; Jinno, Tomoko; Katsumi, Momori; Nakamura, Akie; Asakura, Yumi; Adachi, Masanori; Ogata, Tsutomu; Kanzaki, Susumu

2015-09-01

Pseudoautosomal region 1 (PAR1) contains SHOX, in addition to seven highly conserved non-coding DNA elements (CNEs) with cis-regulatory activity. Microdeletions involving SHOX exons 1-6a and/or the CNEs result in idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). Here, we report six rare copy-number variations (CNVs) in PAR1 identified through copy-number analyzes of 245 ISS/LWD patients and 15 unaffected individuals. The six CNVs consisted of three microduplications encompassing SHOX and some of the CNEs, two microduplications in the SHOX 3'-region affecting one or four of the downstream CNEs, and a microdeletion involving SHOX exon 6b and its neighboring CNE. The amplified DNA fragments of two SHOX-containing duplications were detected at chromosomal regions adjacent to the original positions. The breakpoints of a SHOX-containing duplication resided within Alu repeats. A microduplication encompassing four downstream CNEs was identified in an unaffected father-daughter pair, whereas the other five CNVs were detected in ISS patients. These results suggest that microduplications involving SHOX cause ISS by disrupting the cis-regulatory machinery of this gene and that at least some of microduplications in PAR1 arise from Alu-mediated non-allelic homologous recombination. The pathogenicity of other rare PAR1-linked CNVs, such as CNE-containing microduplications and exon 6b-flanking microdeletions, merits further investigation.

SHOX intragenic microsatellite analysis in patients with short stature.

PubMed

Ezquieta, Begoña; Cueva, Elena; Oliver, Antonio; Gracia, Ricardo

2002-02-01

SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome. Analysis of the intragenic SHOX microsatellite to define its utility in detecting SHOX haplo-insufficiency in patients with short stature. 207 patients with short stature (57 girls with Turner's syndrome [TS] [24 mosaicisms]; 73 children with isolated short stature [ISS]; 77 patients with short stature and skeletal disproportion) and 30 control subjects. DNA extraction and PCR amplification of the intragenic SHOX microsatellite, at the 5'-untranslated region. SSCP and partial sequencing of the SHOX gene in one patient with Madelung deformity and two SHOX alleles. DXS1055 (Xp) and DXS1192 (Xq) microsatellites were also analyzed, together with DXS233 and DXS234 at 0 and 2 cM of the pseudoautosomal region (PAR), in patients with one SHOX allele. 1. 93% of patients with TS had a single SHOX allele, and allele unbalance was detected in the remainder. 2. Patients with ISS were not different from the normal population with respect to SHOX heterozygosity (0.92 and 0.93, respectively; p = 0.997). 3. Patients with short stature and skeletal disproportion showed a higher frequency of SHOX homo/hemizygosity (0.27 vs 0.08; p = 0.027). 4. Five patients with short stature with SHOX haplo-insufficiency were detected: three had Madelung deformity (inherited Yq;Xp translocation, de novo PAR deletion, and SHOX microdeletion), and two had de novo/inherited Xp partial monosomy. The SHOX intragenic microsatellite might be a useful molecular marker to detect TS (including Xp distal deletions). SHOX haplo-insufficiency seems not to be an important contributor to ISS, but when skeletal disproportion is associated with short stature, a significant proportion of patients is found to have a single SHOX allele. Some of these patients were found to be SHOX haplo-insufficient upon molecular, cytogenetic and radiological examination.

A rare cause of short stature: Leri Weill dyschondrosteosis.

PubMed

Cakir, M; Kalyoncu, M; Odemiş, E; Okten, A

2003-01-01

Short stature is a common pediatric problem. It may occur rarely as a result of genetic disorders. Leri-Weill dyschondrosteosis (LWD) is one of the rare genetic disorders of skeletal system resulting with short stature. It is characterized by shortness of stature and Madelung deformity of the wrist. Here we report a case of LWD with some skeletal stigmas of Turner syndrome. She has also depressed medial tibial condyles that to our knowledge, has not previously been reported in LWD.

Epidemiology of SHOX deficiency.

PubMed

Nicolosi, A; Caruso-Nicoletti, M

2010-06-01

Deletion of short stature homeobox-containing (SHOX) gene, in the pseudoautosomal region (PAR1) of X and Y chromosomes, is an important cause of short stature. Homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic short stature (ISS). In Turner syndrome, haploinsufficiency of SHOX gene, as well as short stature, are present in 100%; nevertheless, SHOX deficiency accounts for only two-thirds of Turner patients' short stature. In LWD the prevalence of SHOX gene anomalies varies from 56% to 100%. This wide range might be due to different factors such as selection criteria of patients, sample size, and method used for screening SHOX mutations. The real challenge is to establish the prevalence of SHOX deficiency in ISS children given that published studies have reported this association with a very broad frequency range varying from 1.5% to 15%. An important variable in these studies is represented by the method used for screening SHOX mutations and sometimes by differences in patient selection. Short stature is present by definition in 3 out of 100 subjects; if we consider a frequency of SHOX defects of 3% among ISS, we should expect a population prevalence of 1 in 1000. This prevalence would be higher than that of GH deficiency (1:3,500) and of Turner syndrome (1:2,500 females), suggesting that SHOX deficiency could be one of the most frequent monogenetic causes of short stature.

Evaluation of enhanced sanctions for higher BACs : summary of states' laws

DOT National Transportation Integrated Search

2001-03-01

Twenty-nine states have a stature, regulation, or rule that provides for additional or more severe sanctions for driving under the influence (DUI) offenders with a "high" BAC. States vary in terms of the high-BAC threshold, which ranges from .15 to ....

Early recognition of growth abnormalities permitting early intervention

USDA-ARS?s Scientific Manuscript database

Normal growth is a sign of good health. Monitoring for growth disturbances is fundamental to children's health care. Early detection and diagnosis of the causes of short stature allows management of underlying medical conditions, optimizing attainment of good health and normal adult height. This rev...

Stature-for-Age and Weight-for-Age Percentiles: Boys, 2 to 20 Years

MedlinePlus

2 to 20 years: Boys NAME Stature-for-age and Weight-for-age percentiles RECORD # Mother’s Stature Date Age in cm 160 62 S 155 60 T 150 ... 14 15 16 17 18 19 20 BMI* AGE (YEARS) cm 95 190 90 185 75 180 ...

[Progress on Individual Stature Estimation in Forensic Medicine].

PubMed

Wu, Rong-qi; Huang, Li-na; Chen, Xin

2015-12-01

Individual stature estimation is one of the most important contents of forensic anthropology. Currently, it has been used that the regression equations established by the data collected by direct measurement or radiological techniques in a certain group of limbs, irregular bones, and anatomic landmarks. Due to the impact of population mobility, human physical improvement, racial and geographic differences, estimation of individual stature should be a regular study. This paper reviews the different methods of stature estimation, briefly describes the advantages and disadvantages of each method, and prospects a new research direction.

Imaging in short stature

PubMed Central

Chaudhary, Vikas; Bano, Shahina

2012-01-01

Short stature can be a sign of disease, disability, and social stigma causing psychological stress. It is important to have an early diagnosis and treatment. Short stature may result from skeletal dysplasias, endocrine disorders, may be familial, or may be the result of malnutrition and chronic illnesses. A team effort of the healthcare professionals like pediatricians, endocrinologists, radiologists, and pathologists is required to diagnose, treat and monitor various pathological conditions associated with growth abnormality. In this review, we have discussed the role of imaging in diagnosing and characterizing various pathological conditions associated with short stature. PMID:23087851

Imaging in short stature.

PubMed

Chaudhary, Vikas; Bano, Shahina

2012-09-01

Short stature can be a sign of disease, disability, and social stigma causing psychological stress. It is important to have an early diagnosis and treatment. Short stature may result from skeletal dysplasias, endocrine disorders, may be familial, or may be the result of malnutrition and chronic illnesses. A team effort of the healthcare professionals like pediatricians, endocrinologists, radiologists, and pathologists is required to diagnose, treat and monitor various pathological conditions associated with growth abnormality. In this review, we have discussed the role of imaging in diagnosing and characterizing various pathological conditions associated with short stature.

How should we investigate children with growth failure?

PubMed

Léger, Juliane

2017-06-01

The early diagnosis of short stature is essential for effective management and treatment. Investigations for children with growth failure are required to distinguish between idiopathic short stature due to physiological variants (familial short stature, and constitutional delays of growth and puberty, or both), primary causes of short stature, such as syndromic and/or genetic defects and skeletal dysplasia, and secondary growth deficits due to endocrine or other chronic disorders such as celiac disease, Crohn's disease, malnutrition, renal, anorexia nervosa or other chronic diseases. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Quality of Life of SGA Children with Short Stature Receiving GH Treatment in Japan.

PubMed

Takahashi, Ryo; Ogawa, Madoka; Osada, Hisao

2017-03-01

The objective of this study was to compare the quality of life (QOL) of small for gestational age (SGA) children with short stature with that of children with normal height, and examine the effects of growth hormone (GH) treatment on the QOL of the SGA children using questionnaires administered to their parents or guardians. The results showed that QOL in daily living of SGA children with short stature was lower than that of normal children based on the perceptions of their parents or guardians. In addition, GH treatment improved the physical domain of QOL of SGA children with short stature. This study suggests that GH treatment can improve QOL and reduce psychosocial problems related to short stature. Copyright© of YS Medical Media ltd.

Estimation of stature using lower limb measurements in Sudanese Arabs.

PubMed

Ahmed, Altayeb Abdalla

2013-07-01

The estimation of stature from body parts is one of the most vital parts of personal identification in medico-legal autopsies, especially when mutilated and amputated limbs or body parts are found. The aim of this study was to assess the reliability and accuracy of using lower limb measurements for stature estimations. The stature, tibial length, bimalleolar breadth, foot length and foot breadth of 160 right-handed Sudanese Arab subjects, 80 men and 80 women (25-30 years old), were measured. The reliability of measurement acquisition was tested prior to the primary data collection. The data were analysed using basic univariate analysis and linear and multiple regression analyses. The results showed acceptable standards of measurement errors and reliability. Sex differences were significant for all of the measurements. There was a positive correlation coefficient between lower-limb dimensions and stature (P-value < 0.01). The best predictors were tibial length and foot length. The stature prediction accuracy ranged from ± 2.75-5.40 cm, which is comparable to the established skeletal standards for the lower limbs. This study provides new forensic standards for stature estimation using the lower limb measurements of Sudanese Arabs. Copyright © 2013 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Novel pathogenic ACAN variants in non-syndromic short stature patients.

PubMed

Hu, Xuyun; Gui, Baoheng; Su, Jiasun; Li, Hongdou; Li, Niu; Yu, Tingting; Zhang, Qinle; Xu, Yufei; Li, Guoqiang; Chen, Yulin; Qing, Yanrong; Li, Chuan; Luo, Jingsi; Fan, Xin; Ding, Yu; Li, Juan; Wang, Jian; Wang, Xiumin; Chen, Shaoke; Shen, Yiping

2017-06-01

Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, spondyloepimetaphyseal dysplasia, familial osteochondritis dissecans and idiopathic short stature with normal to advanced bone age. A recent international cohort study significantly expanded the ACAN mutation spectrum, further delineated the heterogeneous clinical characteristics of ACAN mutation patients. The prevalence of ACAN mutation in short stature patients is yet unknown. Here we set to assess the frequency of ACAN variants among a cohort of 218 Chinese children with non-syndromic short stature. We identified three novel truncating variants at the 5' end of ACAN gene. All these pathogenic variants co-segregate with severe short stature phenotype in families. In addition, none of the probands showed significant advanced bone age. All affected individuals showed no signs of significant dysmorphic features or skeletal abnormities. The prevalence of ACAN defect in this cohort is estimated to be 1.4% (3/218). It is higher among families with parents also affected with severe short stature, up to 7.0% (3/43) if parental height is <2.5 SD or 16.7% (3/18) if parental height is <3.0 SD. Our data suggest that ACAN mutation is a relative common cause of familial severe short stature. Copyright © 2017 Elsevier B.V. All rights reserved.

Herbivores rescue diversity in warming tundra by modulating trait-dependent species losses and gains.

PubMed

Kaarlejärvi, Elina; Eskelinen, Anu; Olofsson, Johan

2017-09-04

Climate warming is altering the diversity of plant communities but it remains unknown which species will be lost or gained under warming, especially considering interactions with other factors such as herbivory and nutrient availability. Here, we experimentally test effects of warming, mammalian herbivory and fertilization on tundra species richness and investigate how plant functional traits affect losses and gains. We show that herbivory reverses the impact of warming on diversity: in the presence of herbivores warming increases species richness through higher species gains and lower losses, while in the absence of herbivores warming causes higher species losses and thus decreases species richness. Herbivores promote gains of short-statured species under warming, while herbivore removal and fertilization increase losses of short-statured and resource-conservative species through light limitation. Our results demonstrate that both rarity and traits forecast species losses and gains, and mammalian herbivores are essential for preventing trait-dependent extinctions and mitigate diversity loss under warming and eutrophication.Warming can reduce plant diversity but it is unclear which species will be lost or gained under interacting global changes. Kaarlejärvi et al. manipulate temperature, herbivory and nutrients in a tundra system and find that herbivory maintains diversity under warming by reducing species losses and promoting gains.

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

PubMed

Benito-Sanz, Sara; Aza-Carmona, Miriam; Rodríguez-Estevez, Amaya; Rica-Etxebarria, Ixaso; Gracia, Ricardo; Campos-Barros, Angel; Heath, Karen E

2012-01-01

Short stature homeobox-containing gene, MIM 312865 (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Mutations in SHOX or its downstream transcriptional regulatory elements represent the underlying molecular defect in ~60% of Léri-Weill dyschondrosteosis (LWD) and ~5-15% of idiopathic short stature (ISS) patients. Recently, three novel enhancer elements have been identified upstream of SHOX but to date, no PAR1 deletions upstream of SHOX have been observed that only encompass these enhancers in LWD or ISS patients. We set out to search for genetic alterations of the upstream SHOX regulatory elements in 63 LWD and 100 ISS patients with no known alteration in SHOX or the downstream enhancer regions using a specifically designed MLPA assay, which covers the PAR1 upstream of SHOX. An upstream SHOX deletion was identified in an ISS proband and her affected father. The deletion was confirmed and delimited by array-CGH, to extend ~286 kb. The deletion included two of the upstream SHOX enhancers without affecting SHOX. The 13.3-year-old proband had proportionate short stature with normal GH and IGF-I levels. In conclusion, we have identified the first PAR1 deletion encompassing only the upstream SHOX transcription regulatory elements in a family with ISS. The loss of these elements may result in SHOX haploinsufficiency because of decreased SHOX transcription. Therefore, this upstream region should be included in the routine analysis of PAR1 in patients with LWD, LMD and ISS.

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

PubMed Central

Benito-Sanz, Sara; Aza-Carmona, Miriam; Rodríguez-Estevez, Amaya; Rica-Etxebarria, Ixaso; Gracia, Ricardo; Campos-Barros, Ángel; Heath, Karen E

2012-01-01

Short stature homeobox-containing gene, MIM 312865 (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Mutations in SHOX or its downstream transcriptional regulatory elements represent the underlying molecular defect in ∼60% of Léri-Weill dyschondrosteosis (LWD) and ∼5–15% of idiopathic short stature (ISS) patients. Recently, three novel enhancer elements have been identified upstream of SHOX but to date, no PAR1 deletions upstream of SHOX have been observed that only encompass these enhancers in LWD or ISS patients. We set out to search for genetic alterations of the upstream SHOX regulatory elements in 63 LWD and 100 ISS patients with no known alteration in SHOX or the downstream enhancer regions using a specifically designed MLPA assay, which covers the PAR1 upstream of SHOX. An upstream SHOX deletion was identified in an ISS proband and her affected father. The deletion was confirmed and delimited by array-CGH, to extend ∼286 kb. The deletion included two of the upstream SHOX enhancers without affecting SHOX. The 13.3-year-old proband had proportionate short stature with normal GH and IGF-I levels. In conclusion, we have identified the first PAR1 deletion encompassing only the upstream SHOX transcription regulatory elements in a family with ISS. The loss of these elements may result in SHOX haploinsufficiency because of decreased SHOX transcription. Therefore, this upstream region should be included in the routine analysis of PAR1 in patients with LWD, LMD and ISS. PMID:22071895

Stature and body mass of Nigerian children aged 9-12 years.

PubMed

Goon, D T; Toriola, A L; Shaw, B S

2012-06-01

Mean stature and body mass at selected ages are useful indices of the health and well-being of children in a community. However, such data is not available in school children in Makurdi, Nigeria. The aim of this paper was to present the stature and body mass of children aged 9-12 years in Makurdi, Nigeria, with a view to providing baseline data for these physical characteristics. Anthropometric measurements of stature and body mass were taken in cross-sectional study of 2015 children (979 boys and 1036 girls) randomly selected from 19 public primary schools in Makurdi, Nigeria. The girls (Mean stature=138.9; SD=8.1 cm and body mass: 31.5; SD=6.1 kg) were significantly taller and heavier (P≤0.05) than the boys (Mean stature=137.2; SD=7.7 cm and body mass: 29.8; SD=4.4 kg). At all age categories the girls were taller than the boys. Except at age nine, the girls were significantly heavier than the boys at ages 10 to 12 years (p≤ 0.001). Stature and body mass increased with age in both boys and girls. In comparison with the NCHS growth reference, the Nigerian children were significantly shorter and lighter at all the ages than their American peers. Lower values of stature and body mass recorded in this sample in comparison with the NCHS standard are probably due to poor living conditions. Periodic monitoring of these anthropometric indicators in the children could provide reliable data for screening those with growth abnormalities so that appropriate health intervention strategies can be instituted.

Association between Adult Stature and Energy Expenditure in Low-Income Women from Northeastern Brazil.

PubMed

Albuquerque, Fabiana Cristina Alves; Bueno, Nassib Bezerra; Clemente, Ana Paula Grotti; Ferriolli, Eduardo; Florêncio, Telma Maria Menezes Toledo; Hoffman, Daniel; Sawaya, Ana Lydia

2015-01-01

Perinatal undernutrition may lead to important metabolic adaptations in adult life, short stature being the most visible. The present study aimed to evaluate the association between stature and total energy expenditure of low-income women. Women aged 19-45 years from low-income communities in Maceió-AL were recruited. A sample of 67 volunteers was selected and divided into either short stature (≤ 152.4 cm; n = 34) or non-short stature (≥ 158.7 cm; n = 33) group. Data on socioeconomic status, anthropometric variables, and hormonal profiles was collected. Total energy expenditure and body composition were assessed by the doubly labeled water technique with multiple points over 14 days. In addition, physical activity levels were measured with triaxial accelerometers and dietary intake data were collected using three 24-hour food records. The mean subject age was 30.94 years. Women of short stature had lower body weight and lean body mass compared to non-short women, but there were no differences in thyroid hormone concentrations or daily energy intake between the two groups. Short-stature women showed lower total energy expenditure (P = 0.01) and a significantly higher physical activity level (P = 0.01) compared to non-short women. However, the difference in total energy expenditure was no longer significant after statistical adjustment for age, lean body mass, and triiodothyronine concentrations. Women with short stature present the same energy intake, but lower total energy expenditure than non-short women, even with a higher physical activity level, which suggests that they are more prone to weight gain.

A Procedure for Calculating the Vertical Space Height of the Sacrum When Determining Skeletal Height for Use in the Anatomical Method of Adult Stature Estimation.

PubMed

Hayashi, Atsuko; Emanovsky, Paul D; Pietrusewsky, Michael; Holland, Thomas D

2016-03-01

Estimating stature from skeletonized remains is one of the essential parameters in the development of a biological profile. A new procedure for determining skeletal height (SKH) incorporating the vertical space height (VSH) from the anterior margin of the sacral promontory to the superior margins of the acetabulae for use in the anatomical method of stature estimation is introduced. Regression equations for stature estimation were generated from measurements of 38 American males of European ancestry from the William M. Bass Donated Skeletal Collection. The modification to the procedure results in a SKH that is highly correlated with stature (r = 0.925-0.948). Stature estimates have low standard errors of the estimate ranging from 21.79 to 25.95 mm, biases from to 0.50 to 0.94 mm, and accuracy rates from 17.71 mm to 19.45 mm. The procedure for determining the VSH, which replaces "S1 height" in traditional anatomical method models, is a key improvement to the method. © 2016 American Academy of Forensic Sciences.

New formulae for estimating stature in the Balkans.

PubMed

Ross, Ann H; Konigsberg, Lyle W

2002-01-01

Recent studies of secular change and allometry have observed differential limb proportions between the sexes, among and within populations. These studies suggest that stature prediction formulae developed from American Whites may be inappropriate for European populations. The purpose of this investigation is to present more appropriate stature prediction equations for use in the Balkans to aid present-day identifications of the victims of genocide. The reference sample totals 545 white males obtained from World War II data. The Eastern European sample totals 177 males and includes both Bosnian and Croatian victims of the recent war. Mean stature for Eastern Europeans was obtained from the literature. Results show that formulae based on Trotter and Gleser systematically underestimate stature in the Balkans. Because Eastern Europeans are taller than American Whites it is appropriate to use this as an "informative prior" that can be applied to future cases. This informative prior can be used in predictive formulae, since it is probably similar to the sample from which the Balkan forensic cases were drawn. Based on Bayes' Theorem new predictive stature formulae are presented for Eastern Europeans.

PLAG1 and NCAPG-LCORL in livestock.

PubMed

Takasuga, Akiko

2016-02-01

A recent progress on stature genetics has revealed simple genetic architecture in livestock animals in contrast to that in humans. PLAG1 and/or NCAPG-LCORL, both of which are known as a locus for adult human height, have been detected for association with body weight/height in cattle and horses, and for selective sweep in dogs and pigs. The findings indicate a significant impact of these loci on mammalian growth or body size and usefulness of the natural variants for selective breeding. However, association with an unfavorable trait, such as late puberty or risk for a neuropathic disease, was also reported for the respective loci, indicating an importance to discriminate between causality and association. Here I review the recent findings on quantitative trait loci (QTL) for stature in livestock animals, mainly focusing on the PLAG1 and NCAPG-LCORL loci. I also describe our recent efforts to identify the causative variation for the third major locus for carcass weight in Japanese Black cattle. © 2015 The Authors. Animal Science Journal published by Wiley Publishing Asia Pty Ltd on behalf of Japanese Society of Animal Science.

[Applicability of BMI in adolescent students living at moderate altitude of Perú].

PubMed

Cossio Bolaños, Marco Antonio; Viveros Flores, Antonio; Eduardo Hespanhol, Jefferson; Camargo, Cristiane; Gomez Campos, Rossana

2014-11-01

The use of BMI is highly contested, especially in populations in which growth phase is characterized by short stature for his age. The aim is to verify if the BMI is applicable to a school sample of adolescents living in a region of moderate altitude of Peru. A descriptive cross-sectional study in 319 adolescent students (181 men and 138 women) from 12.0 to 17.9 years of age. Anthropometric variables of height and weight were evaluated. Body Mass Index (BMI) was calculated. The CDC -2000 reference was used to compare weight and height from Z- score and BMI by mean difference. The Z - score showed body weight to small variations (from -0.3 to 0.3 kg). In stature negative values for both sexes (men between -0.3 to -1.3 cm and women between -0.5 to 1.3 cm) is observed. For BMI, there were significant differences in all ages and in both sexes (p. Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

Evaluation of the Child with Short Stature.

PubMed

Mehlman, Charles T; Ain, Michael C

2015-10-01

Orthopedic surgeons frequently encounter short statured patients. A systematic approach is needed for proper evaluation of these children. The differential diagnosis includes both proportionate and disproportionate short stature types. A proper history and physical examination and judicious use of plain film radiography will establish the diagnosis in most cases. In addition to the orthopedic surgeon, most of these patients will also be evaluated by other specialists, including endocrinologists and geneticists. This article provides an overview of the evaluation of the child with short stature and offers several illustrative examples. Copyright © 2015 Elsevier Inc. All rights reserved.

Moderate-intensity running causes intervertebral disc compression in young adults.

PubMed

Kingsley, Michael Ian; D'Silva, Lindsay Antonio; Jennings, Cameron; Humphries, Brendan; Dalbo, Vincent James; Scanlan, Aaron Terrance

2012-11-01

Decreased intervertebral disc (IVD) volume can result in diminished load-carrying capacity of the spinal region. Although moderate-intensity running is generally advocated for apparently healthy adults, running causes a loss in stature that is thought to reflect IVD compression. The aim of this investigation was to use magnetic resonance imaging (MRI) to quantify the influence of moderate-intensity treadmill running on IVD height and volume in the thoracic and lumbar regions of the vertebral column. A clinic-based repeated-measures design was used in eight healthy young asymptomatic adults. After preliminary measurements and familiarization (day 1), participants reported to the clinic on two further occasions. MRI scans and stature measurements were completed at baseline (day 2), preexercise (day 3), and after 30 min of moderate-intensity treadmill running (postexercise, day 3). Mean height and volume were derived for all thoracic and lumbar IVDs from digitized MRIs, and stature was determined with a stadiometer. Moderate-intensity running resulted in 6.3% ± 0.9% reduction in mean IVD height and 6.9% ± 1.0% reduction in calculated IVD volume. The day-to-day variation in mean IVD height and volume were 0.6% ± 0.6% and 0.4% ± 0.6%, respectively. This is the first study to quantify the influence of moderate-intensity running on IVD height and volume. Changes in IVD height and volume were observed throughout the thoracic and lumbar vertebral regions. These findings suggest that future studies evaluating the influence of various loading activities and recovery techniques on IVD structure should consider thoracic as well as lumbar regions of the spine.

Ventricular mass in relation to body size, composition, and skeletal age in adolescent athletes.

PubMed

Valente-Dos-Santos, João; Coelho-e-Silva, Manuel J; Vaz, Vasco; Figueiredo, António J; Castanheira, Joaquim; Leite, Neiva; Sherar, Lauren B; Baxter-Jones, Adam; Elferink-Gemser, Marije T; Malina, Robert M

2013-07-01

To examine the contribution of chronological age (CA), skeletal age (SA), stature, sitting stature, fat-free mass (FFM), and fat mass (FM) to interindividual variability in left ventricular mass (LVM) in male adolescent roller hockey players using allometric models. Cross sectional. Training and competitive sport during adolescence. Seventy-three Portuguese male roller hockey players aged 14.5 to 16.5 years. Stature, sitting stature, body mass, estimated FM and FFM, and SA assessed by the Fels method. Allometric modeling of LVM assessed in accordance with recommendations of the American Society of Echocardiography. Hockey players (CA: 15.4 ± 0.6 years; SA: 16.4 ± 1.5 years) showed an eccentric remodeling of LV structure within the reference range (ie, 0.24-0.42), a dilated LV chamber, but no LVM increase. Exponents for body size descriptors were 2.69 for stature (R(2) = 27%; P < 0.001), 2.49 for sitting stature (R(2) = 37%; P < 0.001), 0.76 for FFM (R(2) = 31%; P < 0.001), and 0.22 for FM (R(2) = 26%; P < 0.001). The combination of size descriptors with CA and SA increased the explained variance in LVM slightly (26%-45%). When stature and FM are used for indexing LVM in a sample of adolescent athletes, biological maturity status should also be considered.

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia

PubMed Central

Bhattacharya, Sanchita; Li, Jian; Sockell, Alexandra; Kan, Matthew J.; Bava, Felice A.; Chen, Shann-Ching; Ávila-Arcos, María C.; Ji, Xuhuai; Smith, Emery; Asadi, Narges B.; Lachman, Ralph S.; Lam, Hugo Y.K.; Bustamante, Carlos D.; Butte, Atul J.; Nolan, Garry P.

2018-01-01

Over a decade ago, the Atacama humanoid skeleton (Ata) was discovered in the Atacama region of Chile. The Ata specimen carried a strange phenotype—6-in stature, fewer than expected ribs, elongated cranium, and accelerated bone age—leading to speculation that this was a preserved nonhuman primate, human fetus harboring genetic mutations, or even an extraterrestrial. We previously reported that it was human by DNA analysis with an estimated bone age of about 6–8 yr at the time of demise. To determine the possible genetic drivers of the observed morphology, DNA from the specimen was subjected to whole-genome sequencing using the Illumina HiSeq platform with an average 11.5× coverage of 101-bp, paired-end reads. In total, 3,356,569 single nucleotide variations (SNVs) were found as compared to the human reference genome, 518,365 insertions and deletions (indels), and 1047 structural variations (SVs) were detected. Here, we present the detailed whole-genome analysis showing that Ata is a female of human origin, likely of Chilean descent, and its genome harbors mutations in genes (COL1A1, COL2A1, KMT2D, FLNB, ATR, TRIP11, PCNT) previously linked with diseases of small stature, rib anomalies, cranial malformations, premature joint fusion, and osteochondrodysplasia (also known as skeletal dysplasia). Together, these findings provide a molecular characterization of Ata's peculiar phenotype, which likely results from multiple known and novel putative gene mutations affecting bone development and ossification. PMID:29567674

Poverty, Physical Stature, and Cognitive Skills: Mechanisms Underlying Children's School Enrollment in Zambia

ERIC Educational Resources Information Center

McCoy, Dana Charles; Zuilkowski, Stephanie Simmons; Fink, Günther

2015-01-01

Past research suggests robust positive associations between household socioeconomic status and children's early cognitive development in Western countries. Relatively little is known about these relations in low-income country settings characterized by economic adversity, high prevalence of malnutrition and infectious disease, and relatively lower…

Skeletal height estimation from regression analysis of sternal lengths in a Northwest Indian population of Chandigarh region: a postmortem study.

PubMed

Singh, Jagmahender; Pathak, R K; Chavali, Krishnadutt H

2011-03-20

Skeletal height estimation from regression analysis of eight sternal lengths in the subjects of Chandigarh zone of Northwest India is the topic of discussion in this study. Analysis of eight sternal lengths (length of manubrium, length of mesosternum, combined length of manubrium and mesosternum, total sternal length and first four intercostals lengths of mesosternum) measured from 252 male and 91 female sternums obtained at postmortems revealed that mean cadaver stature and sternal lengths were more in North Indians and males than the South Indians and females. Except intercostal lengths, all the sternal lengths were positively correlated with stature of the deceased in both sexes (P < 0.001). The multiple regression analysis of sternal lengths was found more useful than the linear regression for stature estimation. Using multivariate regression analysis, the combined length of manubrium and mesosternum in both sexes and the length of manubrium along with 2nd and 3rd intercostal lengths of mesosternum in males were selected as best estimators of stature. Nonetheless, the stature of males can be predicted with SEE of 6.66 (R(2) = 0.16, r = 0.318) from combination of MBL+BL_3+LM+BL_2, and in females from MBL only, it can be estimated with SEE of 6.65 (R(2) = 0.10, r = 0.318), whereas from the multiple regression analysis of pooled data, stature can be known with SEE of 6.97 (R(2) = 0.387, r = 575) from the combination of MBL+LM+BL_2+TSL+BL_3. The R(2) and F-ratio were found to be statistically significant for almost all the variables in both the sexes, except 4th intercostal length in males and 2nd to 4th intercostal lengths in females. The 'major' sternal lengths were more useful than the 'minor' ones for stature estimation The universal regression analysis used by Kanchan et al. [39] when applied to sternal lengths, gave satisfactory estimates of stature for males only but female stature was comparatively better estimated from simple linear regressions. But they are not proposed for the subjects of known sex, as they underestimate the male and overestimate female stature. However, intercostal lengths were found to be the poor estimators of stature (P < 0.05). And also sternal lengths exhibit weaker correlation coefficients and higher standard errors of estimate. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Association of short stature with life satisfaction and self-rated health in children and adolescents: the CASPIAN-IV study.

PubMed

Jafari-Adli, Shahrzad; Qorbani, Mostafa; Heshmat, Ramin; Ranjbar, Shirin Hasani; Taheri, Ehsaneh; Motlagh, Mohammad Esmaeil; Noorozi, Mehdi; Safari, Omid; Shafiee, Gita; Rezaei, Fatemeh; Safiri, Saeid; Kelishadi, Roya

2016-11-01

Data on stature in Iranian children and adolescents at national level are limited. The purpose of this study was to investigate the association of short stature with life satisfaction (LS) and self-rated health (SRH) in children and adolescents. Data were obtained from a nationwide survey entitled childhood and adolescence surveillance and prevention of adult non-communicable disease (CASPIAN IV). Participants were 14,880 children and adolescents, aged 6-18 years, who were selected using multistage, cluster sampling method from rural and urban areas of 30 provinces of Iran. LS and SRH were evaluated for every participant by the validated questionnaire prepared based on the global school-based student health survey of the World Health Organization (WHO). Height was measured according to the standard protocol. Short stature was defined as height less than -2 standard deviation (SD) below the mean height for age and sex. Overall, 13,484 participants with a mean (SD) age of 12.5 (3.36) years (49.24% girls, 50.75% boys) completed the study (response rate 90.6%). The prevalence of short stature, poor SRH and life dissatisfaction was 9%, 20.04% and 20.09%, respectively. Although in the univariate model, participants with short stature had significantly lower odds of LS [odds ratio (OR): 0.83, 95% confidence interval (CI): 0.71-0.97] and good SRH (OR: 0.79, 95% CI: 0.68-0.92), in the multivariate model, only the association of short stature with good SRH remained statistically significant (OR: 0.82, 95% CI: 0.69-0.98). Results of the present study show that participants with short stature are at the greater risk of poor SRH and decreased LS in comparison with the subjects with normal height.

[Short stature in children of Karapotó ethnic background, São Sebastião, Alagoas, Brazil].

PubMed

Campos, Samara Bonfim Gomes; de Menezes, Risia Cristina Egito; Oliveira, Maria Alice Araújo; Silva, Danielle Alice Vieira da; Longo-Silva, Giovana; Oliveira, Juliana Souza; Asakura, Leiko; Costa, Emília Chagas; Leal, Vanessa Sá

2016-06-01

To describe the prevalence of short stature among children of Karapotó ethnic background. Cross-sectional, population-based study that included children between 6 and 59 months of age from the Plak-Ô native village and the Terra Nova settlement, São Sebastião, Alagoas, carried out between 2008 and 2009. Short stature was evaluated by the Height/Age index, using as cutoff z score ≤-2. The prevalence of short stature was determined by comparing simple and relative frequencies. The population growth curves were compared to the WHO reference curves. Data analysis included the outcome variable: Height/Age and the predictor variables: place of residence, gender, age, anemia, birth weight, family income, maternal literacy. The chi-square test was used to compare the categorical variables, whereas the chi-square test with Yates correction was used for dichotomous variables, considering as statistically significant p-values≤0.05. The prevalence of short stature was 15.6% for children from the Terra Nova settlement and 9.1% for those from Plak-Ô native village. The prevalence of short stature among the Karapotó ethnicity was 13.4%. The variables: maternal literacy, family income and low birth weight were statistically associated with short stature. The observed short stature prevalence rates are significant, being characterized as a public health problem. Among the associated factors, the following are noteworthy: unfavorable conditions of maternal literacy, family income and low birth weight. The planning of strategies to reverse the situation must take such factors into consideration. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Stature in archeological samples from central Italy: methodological issues and diachronic changes.

PubMed

Giannecchini, Monica; Moggi-Cecchi, Jacopo

2008-03-01

Stature reconstructions from skeletal remains are usually obtained through regression equations based on the relationship between height and limb bone length. Different equations have been employed to reconstruct stature in skeletal samples, but this is the first study to provide a systematic analysis of the reliability of the different methods for Italian historical samples. Aims of this article are: 1) to analyze the reliability of different regression methods to estimate stature for populations living in Central Italy from the Iron Age to Medieval times; 2) to search for trends in stature over this time period by applying the most reliable regression method. Long bone measurements were collected from 1,021 individuals (560 males, 461 females), from 66 archeological sites for males and 54 for females. Three time periods were identified: Iron Age, Roman period, and Medieval period. To determine the most appropriate equation to reconstruct stature the Delta parameter of Gini (Memorie di metodologia statistica. Milano: Giuffre A. 1939), in which stature estimates derived from different limb bones are compared, was employed. The equations proposed by Pearson (Philos Trans R Soc London 192 (1899) 169-244) and Trotter and Gleser for Afro-Americans (Am J Phys Anthropol 10 (1952) 463-514; Am J Phys Anthropol 47 (1977) 355-356) provided the most consistent estimates when applied to our sample. We then used the equation by Pearson for further analyses. Results indicate a reduction in stature in the transition from the Iron Age to the Roman period, and a subsequent increase in the transition from the Roman period to the Medieval period. Changes of limb lengths over time were more pronounced in the distal than in the proximal elements in both limbs. 2007 Wiley-Liss, Inc.

Short stature in genetic syndromes: Selected issues.

PubMed

Łaczmańska, Izabela; Kuliczkowska-Płaksej, Justyna; Stembalska, Agnieszka

2018-03-14

Short stature, which is defined as height below 2 standard deviations of the mean height for the age and sex, is one of the most frequent reasons for medical consultations in children. Short stature may occur due to a constitutional delay in growth, familial short stature or chronic diseases, including many genetic syndromes, metabolic and endocrine disorders. In this article the authors provide a mini-review of the most frequent genetic syndromes associated with short stature that should be taken into account in the differential diagnosis process. Syndromes caused by chromosomal aberrations and gene mutations were divided into 2 main groups: syndromes that are associated with intrauterine growth retardation (IUGR) and those in which IUGR does not occur in the natural history of the patient. The authors described the most important anomalies in each syndrome. Metabolic diseases and skeletal dysplasias were omitted, as they are major separate groups of diseases involving growth delay.

Short Stature—Physiology and Pathology

PubMed Central

Rimoin, David L.; Borochowitz, Zvi; Horton, William A.

1986-01-01

Stature, the quantitative measure of height, varies widely within each ethnic group with a fairly normal distribution. Of the numerous patients whom physicians encounter because of short stature, relatively few are pathologically small in the context of family and ethnic background. Physicians must be able to differentiate pathologic short stature from the lower end of the normal curve before embarking on a complex diagnostic evaluation. There are literally hundreds of different causes of short stature, and the clinical evaluation requires a wide variety of clinical, radiographic, pathologic and biochemical tools. Although specific treatment to promote growth is available only in persons with the endocrinopathies and the acquired nutritional, emotional and chronic disease states, diagnosis of the specific form of short stature can have great importance in being able to prevent complications and to offer accurate prognostic information and genetic counseling. ImagesFigure 2.Figure 3. PMID:2873688

Estimation of sex and stature using anthropometry of the upper extremity in an Australian population.

PubMed

Howley, Donna; Howley, Peter; Oxenham, Marc F

2018-06-01

Stature and a further 8 anthropometric dimensions were recorded from the arms and hands of a sample of 96 staff and students from the Australian National University and The University of Newcastle, Australia. These dimensions were used to create simple and multiple logistic regression models for sex estimation and simple and multiple linear regression equations for stature estimation of a contemporary Australian population. Overall sex classification accuracies using the models created were comparable to similar studies. The stature estimation models achieved standard errors of estimates (SEE) which were comparable to and in many cases lower than those achieved in similar research. Generic, non sex-specific models achieved similar SEEs and R 2 values to the sex-specific models indicating stature may be accurately estimated when sex is unknown. Copyright © 2018 Elsevier B.V. All rights reserved.

A multinational Andean genetic and health program: growth and development in an hypoxic environment.

PubMed

Mueller, W H; Schull, V N; Schull, W J; Soto, P; Rothhammer, F

1978-07-01

In 1972 a multidisciplinary study sought to assess the health status of the indigenous peoples of the Department of Arica in northern Chile, the Aymara, and to relate disease, morphological, physiological and biochemical variation, to the wide changes in altitude of the region. Presented here are the morphological changes which accompany age, altitude and ethnicity amoung 1047 children and adults, permanent residents of the coast, sierra and altiplano. At comparable ages, high-altitude residents were shorter, lighter and leaner but with more expansive and rounder chests than sea-level controls. None of these effects was systematically related to ethnicity (Spanish-Aymara surname), although when stature was held constant, children with greater Aymara ancestry had largest chest circumferences and longer bones. These results suggest that (1) altitude confers allometric growth changes (expensive growth of the chest and diminished growth of the structures less related to oxygen transport); and (2) size changes associated with altitude are acquired during development while shape changes may be under genetic control. Altitude appears to account for less of the variation in growth in this relatively homogeneous Chilean sample than has been reported for other Andean samples, suggesting other concomitants confounding the effects of hypoxia in Andean South America.

Spine Shape in Sagittal and Frontal Planes in Short- and Tall-Statured Children Aged 13 Years

ERIC Educational Resources Information Center

Lichota, Malgorzata

2008-01-01

Study aim: To assess spine curvatures, postural categories and scolioses in short and tall children aged 13 years. Material and methods: Short-statured (below Percentile 10) and tall-statured (above Percentile 90) boys (n = 13 and 18, respectively) and girls (n = 10 and 11, respectively) aged 13 years were studied. The following angles of spine…

High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

PubMed

Roulot, Dominique; Malan, Valérie; Ziol, Marianne; Linglart, Agnès; Bourcier, Valérie; Beaugrand, Michel; Benzacken, Brigitte

2014-08-01

Paucisymptomatic forms of Turner's syndrome (TS), in which short stature is the predominant clinical abnormality, remain underdiagnosed. Abnormal liver tests are extremely frequent in adult TS patients reflecting various types of hepatic lesions. The objective of the study was to investigate whether unexplained elevated liver enzymes in women with short stature could reveal X chromosome abnormalities of undiagnosed TS. Thirty-one consecutive short stature women displaying elevated liver enzymes and no previous diagnosis of TS were compared with 31 age-matched controls in a prospective study. Liver biopsy was performed in 26 patients. Systematic karyotype analysis and fluorescence in situ hybridization. X chromosome abnormalities were found in 27 patients and one control (87.0% vs 3.2%, P < .0001), including a 45,X/46,XX mosaicism in 24 patients and isochromosome of the long arm in three. Liver histological analysis showed architectural changes in 17 patients with nodular regenerative hyperplasia in 12. Biliary lesions were present in 13 patients and liver steatosis in 20. X chromosome abnormalities indicative of cryptic TS are extremely frequent in short-stature women with unexplained elevated liver enzymes. In short-stature women, abnormal liver tests should lead to systematic karyotype analysis.

Clan-structured migration and phenotypic differentiation in the Jirels of Nepal.

PubMed

Williams-Blangero, S

1989-04-01

This paper examines the impact of clan-structured migration on the between-village differentiation of the Jirels, a tribal population of eastern Nepal. The Jirel population is geographically restricted to nine villages, all of which were sampled to some extent for this study. Data on five head measurements, stature, and digital ridge counts are utilized to illustrate the patterns of phenotypic variation. Multivariate statistical techniques are used to assess the extent to which clan membership and associated patterns of marital exchange influence the population structure of the Jirels. The phenotypic characteristics of randomly generated migrant sets are compared to those of the observed clan-structured sets, demonstrating the clan-related phenotypic nonrandomness of migrants. The results indicate that clan-structured migration may significantly influence the amount of between-village variation. Clan structure may be a significant factor in determining patterns of variation and should not be ignored in studies of microdifferentiation in tribal populations.

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

PubMed

Hisado-Oliva, Alfonso; Garre-Vázquez, Ana I; Santaolalla-Caballero, Fabiola; Belinchón, Alberta; Barreda-Bonis, Ana C; Vasques, Gabriela A; Ramirez, Joaquin; Luzuriaga, Cristina; Carlone, Gianni; González-Casado, Isabel; Benito-Sanz, Sara; Jorge, Alexander A; Campos-Barros, Angel; Heath, Karen E

2015-08-01

SHOX mutations have been detected in approximately 70% of Léri-Weill dyschondrosteosis (LWD) and approximately 2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. The recent identification of NPR2 mutations in ISS suggested that NPR2 mutations may also be involved in disproportionate short stature. The objective of the study was to investigate whether NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX mutation was detected. We undertook NPR2 mutation screening in 173 individuals referred for suspected LWD and 95 for ISS, with no known defect in SHOX or its enhancers. Intracellular localization and natriuretic peptide precursor C-dependent guanylate cyclase activity were determined for the identified NPR2 variants. Eight NPR2 variants were identified in nine individuals, seven referred for suspected LWD and two for ISS. Six were demonstrated to affect NPR-B cell trafficking and/or its ability to synthesize cyclic GMP (cGMP) under response to natriuretic peptide precursor C/brain natriuretic peptide stimulation. All pathogenic mutations were detected in the suspected LWD referral group (∼3%). Interestingly, one of these patients is currently being treated with recombinant human GH and in contrast to previous reports is showing a positive response to the treatment. NPR2 mutations account for approximately 3% of patients with disproportionate short stature and/or clinical or radiographic indicators of SHOX deficiency and in whom no SHOX defect has been identified. However, no patient has yet presented with Madelung deformity. Thus, NPR2 should be screened in the SHOX-negative LWD referrals.

Differences in physical growth of Aymara and Quechua children living at high altitude in Peru.

PubMed

de Meer, K; Bergman, R; Kusner, J S; Voorhoeve, H W

1993-01-01

Physical growth of Amerindian children living in two Aymara and three Quechua peasant communities in the Andean highlands of southern Peru (altitude 3,810-3,840 m) was studied, taking into account differences in the microclimate, agronomic situation, and sociodemographic variables. Anthropometric measurements were taken in 395 children aged under 14 years of age in a sample of 151 families in these communities, who were surveyed for sociodemographic variables as well. Data on the land system were available for 77 families. In comparison with reference populations from the United States (NCHS) and The Netherlands, stature, weight, head circumference, and midupper arm circumference (but not weight for stature) in the sample children were reduced. Growth retardation increased after the age of 1 year. Stature and weight in the present sample were very similar compared with previously published data on growth of rural Aymara children living near Lake Titicaca in Bolivia. Head circumference, midupper arm circumference, and weight for stature were significantly larger in Aymara children compared with Quechua children. Land was significantly more fragmented in Aymara compared with Quechua families, but amount of land owned was not different. Perinatal and infant mortality was elevated in Aymara vs. Quechua communities. Most families in Aymara communities used protected drinking water. One Quechua community had a severe microclimate, grim economic outlook, and weak social cohesion. Children in this community showed significant reductions in weight and midupper arm circumference compared with their peers in the other communities. We conclude that (presumably nutritionally mediated) intervillage and Aymara-Quechua differences in childhood physical growth existed in this rural high-altitude population in Peru and were associated with microclimate and the village economy, sociodemographic factors, and differences in the land system.

An XRCC4 Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome

PubMed Central

de Bruin, Christiaan; Mericq, Verónica; Andrew, Shayne F.; van Duyvenvoorde, Hermine A.; Verkaik, Nicole S.; Losekoot, Monique; Porollo, Aleksey; Garcia, Hernán; Kuang, Yi; Hanson, Dan; Clayton, Peter; van Gent, Dik C.; Wit, Jan M.; Hwa, Vivian

2015-01-01

Context: Severe short stature can be caused by defects in numerous biological processes including defects in IGF-1 signaling, centromere function, cell cycle control, and DNA damage repair. Many syndromic causes of short stature are associated with medical comorbidities including hypogonadism and microcephaly. Objective: To identify an underlying genetic etiology in two siblings with severe short stature and gonadal failure. Design: Clinical phenotyping, genetic analysis, complemented by in vitro functional studies of the candidate gene. Setting: An academic pediatric endocrinology clinic. Patients or Other Participants: Two adult siblings (male patient [P1] and female patient 2 [P2]) presented with a history of severe postnatal growth failure (adult heights: P1, −6.8 SD score; P2, −4 SD score), microcephaly, primary gonadal failure, and early-onset metabolic syndrome in late adolescence. In addition, P2 developed a malignant gastrointestinal stromal tumor at age 28. Intervention(s): Single nucleotide polymorphism microarray and exome sequencing. Results: Combined microarray analysis and whole exome sequencing of the two affected siblings and one unaffected sister identified a homozygous variant in XRCC4 as the probable candidate variant. Sanger sequencing and mRNA studies revealed a splice variant resulting in an in-frame deletion of 23 amino acids. Primary fibroblasts (P1) showed a DNA damage repair defect. Conclusions: In this study we have identified a novel pathogenic variant in XRCC4, a gene that plays a critical role in non-homologous end-joining DNA repair. This finding expands the spectrum of DNA damage repair syndromes to include XRCC4 deficiency causing severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition. PMID:25742519

Limb lengthening in short stature patients.

PubMed

Aldegheri, R; Dall'Oca, C

2001-07-01

A series of 140 patients with short stature operated on for limb lengthening (80 had achondroplasia, 20 had hypochondroplasia, 20 had Turner syndrome, 10 had idiopathic short stature due to an undemonstrated cause, 5 regarded their stature as too short, and 5 had a psychopathic personality due to dysmorphophobia that had developed because of their short stature) was reviewed. All patients underwent symmetric lengthening of both femora and tibiae; 10 of these achondroplastic patients underwent lengthening of the humeri. We carried out the 580 lengthening procedures by means of three different surgical techniques: 440 callotasis, 120 chondrodiatasis and 20 mid-shaft osteotomy. In the 130 patients with a disproportionate short stature, the average gain in length was 18.2 +/- 3.93 cm: 43.8% had complications and 3.8% had sequelae; the average treatment time was 31 months. In the 10 patients with proportionate short stature, the average gain in length was 10.8 +/- 1.00 cm: 4 experienced complications and none had sequelae; the average treatment time was 21 months. Patients who underwent lengthening of the upper limbs experienced an average gain in length of 10.2 +/- 1.25 cm: the average treatment time was 9 months and none of them experienced any complications or sequelae. The authors discuss how difficult it is to achieve the benefits of this surgery: they underline the strong commitment on the part of the patients and their families, the time in the hospital, the number of operations and, above all, the severity of those permanent sequelae that occurred.

Stature estimation from body segment lengths in young adults--application to people with physical disabilities.

PubMed

Canda, Alicia

2009-03-01

Knowledge of stature is necessary for evaluating nutritional status and for correcting certain functional parameters. Measuring stature is difficult or impossible in bedridden or wheelchair-bound persons and may also be diminished by disorders of the spinal column or extremities. The purpose of this work is to develop estimation equations for young adult athletes for their subsequent application to disabled persons. The main sample comprised 445 male and 401 female sportspersons. Cross validation was also performed on 100 males and 101 females. All were Caucasian, the males being over 21 and the females over 18, and all practiced some kind of sport. The following variables were included: stature, sitting height, arm span, and lengths of upper arm, forearm, hand, thigh, lower leg, and foot. Simple and multiple regression analyses were performed using stature as a dependent variable and the others as predictive variables. The best equation for males (R(2)=0.978; RMSE=1.41 cm; PE=1.54 cm) was stature: 1.346+1.023 * lower leg+0.957 * sitting height+0.530 * thigh+0.493 * upper arm+0.228 * forearm. For females (R(2)=0.959; RMSE=1.57 cm; PE=1.25 cm) it was stature: 1.772+0.159 * arm span+0.957 * sitting height+0.424 * thigh+0.966 * lower leg. Alternative equations were developed for when a particular variable cannot be included for reasons of mobility, technical difficulty, or segment loss.

A longitudinal ecological study of household firearm ownership and firearm-related deaths in the United States from 1999 through 2014: A specific focus on gender, race, and geographic variables.

PubMed

Geier, David A; Kern, Janet K; Geier, Mark R

2017-06-01

Firearms have a longstanding tradition in the United States (US) and are viewed by many with iconic stature with regards to safety and personal freedom. Unfortunately, from a public health point of view, firearm-related deaths (FRDs) in the US have reached a crisis point with an estimated > 31,000 deaths and 74,000 nonfatal injuries resulting from firearms each year. This longitudinal ecological study analyzed variations in FRDs following firearm assaults (FAs) and law enforcement incidents involving a firearm (LEIF) in comparison to variations in household firearm ownership (HFO) among different geographic and demographic groups in the US from 1999 to 2014. The Underlying Cause of Death database was examined on the CDC Wonder online interface. Records coded with ICD-10 codes: FA (X93 - assault by handgun discharge, X94 - assault by rifle, shotgun, and larger firearm discharge, or X95 - assault by other and unspecified firearm discharge) and LEIF (Y35.0) were examined, and the prevalence of HFO was determined using the well-established proxy of the percentage of suicides committed with a firearm. Gender, ethnicity, Census Division, and urbanization significantly impacted the death rates from FA and LEIF. Significant direct correlations between variations in HFO and death rates from FAs and LEIF were observed. Understanding the significant impacts of gender, race, Census Division, and urbanization status may help shape future public health policy to promote increased firearm safety.

The Incalculable Benefits of Revitalizing Your Board

ERIC Educational Resources Information Center

Holtschneider, Dennis H.

2013-01-01

DePaul University has grown in size and stature in the last decade. Chicago's "little school under the El," as DePaul was once known, is now the nation's largest Catholic university and the largest private, nonprofit university in the Midwest. DePaul University restructured its board, enabling it to play an important role in the…

Short stature, abdominal obesity, insulin resistance and alterations in lipid profile in very low-income women living in Maceió, north-eastern Brazil.

PubMed

Florêncio, Telma T; Ferreira, Haroldo S; Cavalcante, Jairo C; Stux, Gabriela R; Sawaya, Ana L

2007-04-01

To test the hypothesis that short stature is associated with abdominal obesity, insulin resistance and lipid profile changes. Anthropometric data were collected from 237 women (18-60 years old), residents of a shantytown in Maceió. Biochemical profiles of 60 individuals drawn from this population were determined. Total and low-density lipoprotein (LDL) cholesterol levels and insulin resistance rose with increasing waist : hip circumference ratio, particularly in women. Short, overweight individuals exhibited larger biochemical alterations than overweight individuals of average stature. Short stature, when associated with overweight, is a risk factor for increased insulin resistance and alterations in lipid profile.

Genetic analysis of tall stature.

PubMed

Kant, S G; Wit, J M; Breuning, M H

2005-01-01

Tall stature is less often experienced as an important problem than short stature. However, a correct diagnosis may be of eminent importance, especially when interventions are planned, or to know the natural history. Overgrowth can be caused by endocrine disorders and skeletal dysplasias, but also by several genetic syndromes. Despite a systematic diagnostic approach, there will be patients with tall stature who do not fit a known diagnosis. In this group of patients possibilities of genetic analysis do exist, but are not common practice. The FMR1 gene should be analyzed in patients with tall stature and mental retardation, and in these patients the NSD1 gene can be considered whenever some features of Sotos syndrome do exist. In tall patients without mental retardation and some features of Sotos or Beckwith-Wiedemann syndrome it may still be useful to look for mutations in the NSD1 gene, but also for changes in the 11p15 region. The various possibilities are discussed and placed in a flowchart. Copyright (c) 2005 S. Karger AG, Basel.

Height of Northern Jordanian middle-class adults, born 1960-1990 in the response to improving socio-economic conditions.

PubMed

Abu Dalou, Ahmad Yosuf

2016-09-01

The purpose of this study is to document and explain secular trends in stature among Northern Jordanian men and women between the years of birth 1960 and 1990, as they relate to overall per capita socio-economic improvement, the stature of 360 adults from two Northern governorates, those of Jerash and Irbid, was measured. General linear model (GLM) was used to examine the effect of birth-decade, education level of subject, and their interaction on mean stature of each sex separately. GLM results revealed that women who were born during the following three decades pooled together (1951-1980) did not differ significantly in mean stature from those born during (1981-1990). Among men, stature of those born in the two pooled birth-decades together (1951-1970) did not significantly differ of those were born in the two pooled birth-decades (1971-1990). Copyright © 2016. Published by Elsevier B.V.

The surgical treatment of short stature: management strategy and local experience.

PubMed

Koczewski, Paweł; Shadi, Milud; Napiontek, Marek

2002-08-30

Background. This article presents the indications and counterindications for the application of limb lengthening using distraction osteogenesis in the treatment of patients with short stature. Various treatment strategies are described. The factors influencing the choice of strategy are discussed, the means used to determine the extent and level of lengthening, and the optimum age to begin treatment. Material and methods. On the basis of their own material the authors present the problems, obstacles, and complications occurring during treatment. During the period 1997-2000 a total of 5 patients were treated for short stature, averaging 18 years of age. In these cases the "crossed" technique of surgical treatment was applied, using an Ilizarov apparatus on the tibia and an Italian modification on the leg. Results. A total of 8 tibial segments (ave. 7 cm) and 8 femoral segments (ave. 7.5 cm) were lengthened. The average increase in stature was 14.8 cm (a 12% increase over the growth prior to treatment). Conclusions. The methods applied produced good results in patients with non-proportional dwarfism, while the majority of complications involved patients with constitutionally short stature. This confirms the necessity to make a strict selection of healthy persons undertaking to increase their stature for cosmetic reasons.

Primary Succession on a Hawaiian Dryland Chronosequence

DOE PAGES

Kinney, Kealohanuiopuna M.; Asner, Gregory P.; Cordell, Susan; ...

2015-06-12

We used measurements from airborne imaging spectroscopy and LiDAR to quantify the biophysical structure and composition of vegetation on a dryland substrate age gradient in Hawaii. Both vertical stature and species composition changed during primary succession, and reveal a progressive increase in vertical stature on younger substrates followed by a collapse on Pleistocene-aged flows. Tall-stature Metrosideros polymorpha woodlands dominated on the youngest substrates (hundreds of years), and were replaced by the tall-stature endemic tree species Myoporum sandwicense and Sophora chrysophylla on intermediate-aged flows (thousands of years). The oldest substrates (tens of thousands of years) were dominated by the short-stature nativemore » shrub Dodonaea viscosa and endemic grass Eragrostis atropioides. We excavated 18 macroscopic charcoal fragments from Pleistocene-aged substrates. Mean radiocarbon age was 2,002 years and ranged from < 200 to 7,730. Genus identities from four fragments indicate that Osteomeles spp. or M. polymorpha once occupied the Pleistocene-aged substrates, but neither of these species is found there today. These findings indicate the existence of fires before humans are known to have occupied the Hawaiian archipelago, and demonstrate that a collapse in vertical stature is prevalent on the oldest substrates. In conclusion, this work contributes to our understanding of prehistoric fires in shaping the trajectory of primary succession in Hawaiian drylands.« less

Primary Succession on a Hawaiian Dryland Chronosequence

PubMed Central

Kinney, Kealohanuiopuna M.; Asner, Gregory P.; Cordell, Susan; Chadwick, Oliver A.; Heckman, Katherine; Hotchkiss, Sara; Jeraj, Marjeta; Kennedy-Bowdoin, Ty; Knapp, David E.; Questad, Erin J.; Thaxton, Jarrod M.; Trusdell, Frank; Kellner, James R.

2015-01-01

We used measurements from airborne imaging spectroscopy and LiDAR to quantify the biophysical structure and composition of vegetation on a dryland substrate age gradient in Hawaii. Both vertical stature and species composition changed during primary succession, and reveal a progressive increase in vertical stature on younger substrates followed by a collapse on Pleistocene-aged flows. Tall-stature Metrosideros polymorpha woodlands dominated on the youngest substrates (hundreds of years), and were replaced by the tall-stature endemic tree species Myoporum sandwicense and Sophora chrysophylla on intermediate-aged flows (thousands of years). The oldest substrates (tens of thousands of years) were dominated by the short-stature native shrub Dodonaea viscosa and endemic grass Eragrostis atropioides. We excavated 18 macroscopic charcoal fragments from Pleistocene-aged substrates. Mean radiocarbon age was 2,002 years and ranged from < 200 to 7,730. Genus identities from four fragments indicate that Osteomeles spp. or M. polymorpha once occupied the Pleistocene-aged substrates, but neither of these species is found there today. These findings indicate the existence of fires before humans are known to have occupied the Hawaiian archipelago, and demonstrate that a collapse in vertical stature is prevalent on the oldest substrates. This work contributes to our understanding of prehistoric fires in shaping the trajectory of primary succession in Hawaiian drylands. PMID:26066334

Short Stature and Access to Lung Transplantation in the United States. A Cohort Study

PubMed Central

Sell, Jessica L.; Bacchetta, Matthew; Goldfarb, Samuel B.; Park, Hanyoung; Heffernan, Priscilla V.; Robbins, Hilary A.; Shah, Lori; Raza, Kashif; D’Ovidio, Frank; Sonett, Joshua R.; Arcasoy, Selim M.

2016-01-01

Rationale: Anecdotally, short lung transplant candidates suffer from long waiting times and higher rates of death on the waiting list compared with taller candidates. Objectives: To examine the relationship between lung transplant candidate height and waiting list outcomes. Methods: We conducted a retrospective cohort study of 13,346 adults placed on the lung transplant waiting list in the United States between 2005 and 2011. Multivariable-adjusted competing risk survival models were used to examine associations between candidate height and outcomes of interest. The primary outcome was the time until lung transplantation censored at 1 year. Measurements and Main Results: The unadjusted rate of lung transplantation was 94.5 per 100 person-years among candidates of short stature (<162 cm) and 202.0 per 100 person-years among candidates of average stature (170–176.5 cm). After controlling for potential confounders, short stature was associated with a 34% (95% confidence interval [CI], 29–39%) lower rate of transplantation compared with average stature. Short stature was also associated with a 62% (95% CI, 24–96%) higher rate of death or removal because of clinical deterioration and a 42% (95% CI, 10–85%) higher rate of respiratory failure while awaiting lung transplantation. Conclusions: Short stature is associated with a lower rate of lung transplantation and higher rates of death and respiratory failure while awaiting transplantation. Efforts to ameliorate this disparity could include earlier referral and listing of shorter candidates, surgical downsizing of substantially oversized allografts for shorter candidates, and/or changes to allocation policy that account for candidate height. PMID:26554631

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

PubMed

Vasques, Gabriela A; Funari, Mariana F A; Ferreira, Frederico M; Aza-Carmona, Miriam; Sentchordi-Montané, Lucia; Barraza-García, Jimena; Lerario, Antonio M; Yamamoto, Guilherme L; Naslavsky, Michel S; Duarte, Yeda A O; Bertola, Debora R; Heath, Karen E; Jorge, Alexander A L

2018-02-01

Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy. We studied 17 families with autosomal-dominant short stature by using whole exome sequencing and screened IHH defects in 290 patients with growth disorders. Molecular analyses were performed to evaluate the potential impact of N-terminal IHH variants. We identified 10 pathogenic or possibly pathogenic variants in IHH, an important regulator of endochondral ossification. Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be deleterious IHH variants found in short-stature samples (1.6%) was higher than that observed in two control cohorts (0.017% and 0.08%; P < 0.001). Identified IHH variants segregate with short stature in a dominant inheritance pattern. Affected individuals typically manifest mild disproportional short stature with a frequent finding of shortening of the middle phalanx of the fifth finger. None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations. Five patients heterozygous for IHH variants had a good response to rhGH therapy. The mean change in height standard deviation score in 1 year was 0.6. Our study demonstrated the association of pathogenic variants in IHH with short stature with nonspecific skeletal abnormalities and established a frequent cause of growth disorder, with a preliminary good response to rhGH. Copyright © 2017 Endocrine Society

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

PubMed Central

Ibarra-Ramirez, Marisol; Campos-Acevedo, Luis Daniel; Lugo-Trampe, Jose; Martínez-Garza, Laura E.; Martinez-Glez, Víctor; Valencia-Benitez, María; Lapunzina, Pablo; Ruiz-Peréz, Víctor

2017-01-01

Case series Patient: — Final Diagnosis: Ellis van Creveld syndrome Symptoms: Conical teeth • polydactyly • short stature Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology Objective: Rare disease Background: Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a few cases caused by mutations in WDR35. Case Report: Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. Family 1 includes four patients: three females of 15, 18, and 23 years of age and a 7-year old male. Family 2 has only one affected newborn male. All patients exhibited multiple features including hypodontia, dysplastic teeth, extra frenula, mild short stature, distal limb shortening, postaxial polydactyly of hands and feet, nail dystrophy, and knee joint abnormalities. Only two patients had an atrial septal defect. In all cases, molecular analysis by Sanger sequencing identified the same homozygous mutation in exon 12 of EVC, c.1678G>T, which leads to a premature stop codon. Conclusions: The mutation c.1678G>T has been previously reported in another Mexican patient and it appears to be a recurrent mutation in Mexico which could represent a founder mutation. The large number of patients in this case allows the clinical variability and spectrum of manifestations present in individuals with Ellis-van Creveld syndrome even if they carry the same homozygous mutation in a same family. PMID:29229899

Stature signals status: The association of stature, status and perceived dominance - a thought experiment.

PubMed

Hermanussen, Michael; Scheffler, Christiane

2016-11-01

Background: There is a common perception that tall stature results in social dominance. Evidence in meerkats suggests that social dominance itself may be a strong stimulus for growth. Relative size serves as the signal for individuals to induce strategic growth adjustments . Aim: We construct a thought experiment to explore the potential consequences of the question: is stature a social signal also in humans? We hypothesize that (1) upward trends in height in the lower social strata are perceived as social challenges yielding similar though attenuated upward trends in the dominant strata, and that (2) democratization, but also periods of political turmoil that facilitate upward mobility of the lower strata, are accompanied by upward trends in height. Material and methods: We reanalyzed large sets of height data of European conscripts born between 1856-1860 and 1976-1980; and annual data of German military conscripts, born between 1965 and 1985, with information on height and school education. Results: Taller stature is associated with higher socioeconomic status. Historic populations show larger height differences between social strata that tend to diminish in the more recent populations. German height data suggest that both democratization, and periods of political turmoil facilitating upward mobility of the lower social strata are accompanied by a general upward height spiral that captures the whole population. Discussion: We consider stature as a signal. Nutrition, health, general living conditions and care giving are essential prerequisites for growth, yet not to maximize stature, but to allow for its function as a lifelong social signal. Considering stature as a social signal provides an elegant explanation of the rapid height adjustments observed in migrants, of the hitherto unexplained clustering of body height in modern and historic cohorts of military conscripts, and of the parallelism between changes in political conditions, and secular trends in adult human height since the 19 th century.

Pituitary stalk interruption syndrome presenting as short stature: a case report.

PubMed

Ram, Nanik; Ali, Syed Ahsan; Hussain, Syed Zubair

2014-12-19

Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Clinical presentation varies according to age. In adults it presents as short stature and anterior pituitary deficiency. Without early diagnosis and treatment, mortality and morbidity in these patients is high. Early diagnosis and treatment of this rare disease can prevent permanent short statue of the patient. We report the first case of pituitary stalk interruption syndrome from Pakistan. A 17-year-old Pakistani young man presented with short stature and underdeveloped secondary sexual characters. His siblings and parents were healthy, with normal height. An examination showed his blood pressure was 90/60 mmHg, and his height, weight, and body mass index were 142 cm, 34.5 kg, and 17.10 kg/m2, respectively. He had no hair growth on his face, axilla, or pubis. His testes were between 1 and 2 mL in size, with a 4 cm-at-stretch micropenis. His lab investigations showed that his thyroid stimulating hormone (TSH) was 8.58 uIU/mL (0.4 to 4.2), his free thyroid hormone level FT4 was 0.46 ng/dL (0.89 to 1.76), his prolactin was 21.1 ng/mL (3.0 to 14.7), and his baseline cortisol was 0.30 ug/dL (4.3 to 22.4). His cortisol level after 60 minutes of cosyntropin injection was 3.5 ug/dL (4.3 to 22.4), his insulin like growth factor IGF-1 was 31.56 ng/mL (247.3 to 481.7), his testosterone level was under 2.5 ng/dL (2 to 800), his follicle stimulating hormone FSH was 0.41 uIU/mL (0.0 to 10.0), and his leutinizing hormone LH was under 0.1 uIU/mL (1.2 to 7.8). His bone age was 10 years according to the Greulich and Pyle method, as shown by X-rays. The results from his pituitary magnetic resonance imaging scan were consistent with pituitary stalk interruption syndrome. We describe a young man who presented with short stature and was found to have pituitary stalk interruption syndrome. Despite the fact that this is a rare disorder, it should always be kept in the differential diagnosis of a patient presenting with short stature. Patients with this disease have an excellent opportunity to reach normal height if they present before the joining of epiphyses.

The Elevated Susceptibility to Diabetes in India: An Evolutionary Perspective

PubMed Central

Wells, Jonathan C. K.; Pomeroy, Emma; Walimbe, Subhash R.; Popkin, Barry M.; Yajnik, Chittaranjan S.

2016-01-01

India has rapidly become a “diabetes capital” of the world, despite maintaining high rates of under-nutrition. Indians develop diabetes at younger age and at lower body weights than other populations. Here, we interpret these characteristics in terms of a “capacity–load” model of glucose homeostasis. Specifically, we assume that glycemic control depends on whether the body’s “metabolic capacity,” referring to traits, such as pancreatic insulin production and muscle glucose clearance, is able to resolve the “metabolic load” generated by high levels of body fat, high dietary glycemic load, and sedentary behavior. We employ data from modern cohorts to support the model and the interpretation that elevated diabetic risk among Indian populations results from the high metabolic load imposed by westernized lifestyles acting on a baseline of low metabolic capacity. We attribute this low metabolic capacity to the low birth weight characteristic of Indian populations, which is associated with short stature and low lean mass in adult life. Using stature as a marker of metabolic capacity, we review archeological and historical evidence to highlight long-term declines in Indian stature associated with adaptation to several ecological stresses. Underlying causes may include increasing population density following the emergence of agriculture, the spread of vegetarian diets, regular famines induced by monsoon failure, and the undermining of agricultural security during the colonial period. The reduced growth and thin physique that characterize Indian populations elevate susceptibility to truncal obesity, and increase the metabolic penalties arising from sedentary behavior and high glycemic diets. Improving metabolic capacity may require multiple generations; in the meantime, efforts to reduce the metabolic load will help ameliorate the situation. PMID:27458578

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

PubMed

Bhattacharya, Sanchita; Li, Jian; Sockell, Alexandra; Kan, Matthew J; Bava, Felice A; Chen, Shann-Ching; Ávila-Arcos, María C; Ji, Xuhuai; Smith, Emery; Asadi, Narges B; Lachman, Ralph S; Lam, Hugo Y K; Bustamante, Carlos D; Butte, Atul J; Nolan, Garry P

2018-04-01

Over a decade ago, the Atacama humanoid skeleton (Ata) was discovered in the Atacama region of Chile. The Ata specimen carried a strange phenotype-6-in stature, fewer than expected ribs, elongated cranium, and accelerated bone age-leading to speculation that this was a preserved nonhuman primate, human fetus harboring genetic mutations, or even an extraterrestrial. We previously reported that it was human by DNA analysis with an estimated bone age of about 6-8 yr at the time of demise. To determine the possible genetic drivers of the observed morphology, DNA from the specimen was subjected to whole-genome sequencing using the Illumina HiSeq platform with an average 11.5× coverage of 101-bp, paired-end reads. In total, 3,356,569 single nucleotide variations (SNVs) were found as compared to the human reference genome, 518,365 insertions and deletions (indels), and 1047 structural variations (SVs) were detected. Here, we present the detailed whole-genome analysis showing that Ata is a female of human origin, likely of Chilean descent, and its genome harbors mutations in genes ( COL1A1 , COL2A1 , KMT2D , FLNB , ATR , TRIP11 , PCNT ) previously linked with diseases of small stature, rib anomalies, cranial malformations, premature joint fusion, and osteochondrodysplasia (also known as skeletal dysplasia). Together, these findings provide a molecular characterization of Ata's peculiar phenotype, which likely results from multiple known and novel putative gene mutations affecting bone development and ossification. © 2018 Bhattacharya et al.; Published by Cold Spring Harbor Laboratory Press.

Human talus bones from the Middle Pleistocene site of Sima de los Huesos (Sierra de Atapuerca, Burgos, Spain).

PubMed

Pablos, Adrián; Martínez, Ignacio; Lorenzo, Carlos; Gracia, Ana; Sala, Nohemi; Arsuaga, Juan Luis

2013-07-01

Here we present and describe comparatively 25 talus bones from the Middle Pleistocene site of the Sima de los Huesos (SH) (Sierra de Atapuerca, Burgos, Spain). These tali belong to 14 individuals (11 adult and three immature). Although variation among Middle and Late Pleistocene tali tends to be subtle, this study has identified unique morphological characteristics of the SH tali. They are vertically shorter than those of Late Pleistocene Homo sapiens, and show a shorter head and a broader lateral malleolar facet than all of the samples. Moreover, a few shared characters with Neanderthals are consistent with the hypothesis that the SH population and Neanderthals are sister groups. These shared characters are a broad lateral malleolar facet, a trochlear height intermediate between modern humans and Late Pleistocene H. sapiens, and a short middle calcaneal facet. It has been possible to propose sex assignment for the SH tali based on their size. Stature estimates based on these fossils give a mean stature of 174.4 cm for males and 161.9 cm for females, similar to that obtained based on the long bones from this same site. Copyright © 2013 Elsevier Ltd. All rights reserved.

Growth hormone significantly increases the adult height of children with idiopathic short stature: comparison of subgroups and benefit

PubMed Central

2014-01-01

Background Children with Idiopathic Short Stature do not attain a normal adult height. The improvement of adult height with treatment with recombinant human growth hormone (rhGH), at doses of 0.16 to 0.28 mg/kg/week is modest, usually less that 4 cm, and they remain short as adults. The benefit obtained seems dose dependent and benefits of 7.0 to 8.0 cm have been reported with higher doses of 0.32 to 0.4 mg/kg/week, but the number of studies is limited. The topic has remained controversial. Objective The objective was to conduct a retrospective analysis of our experience with 123 children with ISS treated with 0.32 ± 0.03 mg/kg/week of rhGH, with the aim of comparing the different subgroups of non-familial short stature, familial short stature, normal puberty, and delayed puberty and to assess the benefit by comparison with 305 untreated historical controls, from nine different randomized and nonrandomized controlled studies. Results Eighty eight of our children (68 males and 20 females) attained an adult height or near adult height of -0.71 SDS (0.74 SD) (95% CI, -0.87 to -0.55) with a benefit over untreated controls of 9.5 cm (7.4 to 11.6 cm) for males and 8.6 cm (6.7 to 10.5 cm) for females. In the analysis of the subgroups, the adult height and adult height gain of children with non-familial short stature were significantly higher than of familial short stature. No difference was found in the cohorts with normal or delayed puberty in any of the subgroups, except between the non-familial short stature and familial short stature puberty cohorts. This has implications for the interpretation of the benefit of treatment in studies where the number of children with familial short stature in the controls or treated subjects is not known. The treatment was safe. There were no significant adverse events. The IGF-1 values were essentially within the levels expected for the stages of puberty. Conclusion Our experience was quite positive with normalization of the heights and growth of the children during childhood and the attainment of normal adult heights, the main two aims of treatment. PMID:25075207

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.

PubMed

Alexandrou, Angelos; Papaevripidou, Ioannis; Tsangaras, Kyriakos; Alexandrou, Ioanna; Tryfonidis, Marios; Christophidou-Anastasiadou, Violetta; Zamba-Papanicolaou, Eleni; Koumbaris, George; Neocleous, Vassos; Phylactou, Leonidas A; Skordis, Nicos; Tanteles, George A; Sismani, Carolina

2016-12-01

Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. Here, we present the clinical and molecular data as well as the potential molecular mechanism underlying a novel microdeletion, causing a variable SHOX-related haploinsufficiency disorder in a three-generation family. The phenotype resembles that of LWD in females, in males, however, the phenotypic expression is milder. The 15523-bp SHOX intragenic deletion, encompassing exons 3-6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism.

Current research on pycnodysostosis.

PubMed

Turan, Serap

2014-08-01

Pycnodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in cathepsin K (CTSK) and characterized by dysmorphic facial features, a short stature, acroosteolysis, osteosclerosis with increased bone fragility, and delayed closure of cranial sutures. Patients usually present with short stature or dysmorphic features the Pediatric Endocrinology or Genetics clinics, with atypical fractures to the orthopedics clinics or hematological abnormalities to the hematology clinics. However, under-diagnosis or misdiagnosis of this condition is a major issue. Pycnodysostosis is not a life threatening condition, but craniosynostosis, frequent fractures, respiratory-sleep problems, and dental problems may cause significant morbidity. Although no specific treatment for this disorder has been described, patients should be followed for complications and treated accordingly. A specific treatment for the disorder must be established in the future to prevent complications and improve quality of life for patients in the current era of advanced molecular research.

Stature of sub-arctic birch in relation to growth rate, lifespan and tree form.

PubMed

Jónsson, Thorbergur Hjalti

2004-11-01

Sub-arctic mountain birch Betula pubescens var. pumila communities in the North Atlantic region are of variable stature, ranging from prostrate scrubs to forests with trees up to 12 m high. Four hypotheses were tested, relating growth and population characteristics of sub-arctic birch woodland and scrub to tree stature; i.e. the variable stature of birch woods is due to differences in (1) the mean growth rate; (2) the age-related patterns of growth rate; (3) the life expectancy of stems; or (4) the tree form. A stratified random sample of 300 birch trees was drawn from the total population of indigenous birch woodlands and scrub in Iceland, yielding 286 valid sample genets. The population was divided into three sub-populations with dominant trees 0-2, 2-4 and 4-12 m tall, referred to as birch scrub, birch scrub-woodland and birch forest, respectively. Trees in the scrub population were of more contorted growth form than birch in the scrub-woodland and forest populations. Mean growth rates, mean age and median life expectancies increased significantly with sub-population of greater tree stature. At the population level, annual increment and longevity of birch stems was apparently interrelated as the stems in vigorously growing birch sub-populations had a longer life expectancy than those of slower growth. However, no difference was observed between sub-populations in age-related patterns of extension growth rate. The results were consistent with hypotheses (1), (3) and (4), but hypothesis (2) was rejected. Hence, mountain birch of more vigorous growth attains a greater stature than birch of lesser increment due to faster extension growth rate and a longer lifespan. In addition, the more contorted stem form of scrub populations contributes to their low stature.

Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood.

PubMed

Koç, Eyup; Bayrak, Gulden; Suher, Murat; Ensari, Cuneyt; Aktas, Dilek; Ensari, Arzu

2006-04-01

Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic nephropathy. It may be associated with acanthosis nigricans, hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis, hyperlipidaemia, dilated cardiomyopathy and short stature. We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.

[TREATMENT OF SHORT STATURE PATIENTS WITH NOPMAL GROWTH HORMONE SECRETION OF HYPOPHIS].

PubMed

Sprinchuk, N A; Samson, O J; Bol'shova, E V

2014-12-01

The article presents the treatment outcome in 86 children with short stature associated with different endocrine pathology and saved growth hormone secretion (congenital adrenal hyperplasia chondrodystrophy, Turner syndrome, idiopathic short stature, syndrome biologically inactive growth hormone and other genetically determined pathology). This study extends prior knowledge about the outcomes of the treatment with recombinant growth hormone and luteinizing hormone--releasing hormone analogue (alone or in combination) in short patients with poor prognosis of final height.

Idiopathic Short Stature due to Novel Heterozygous Mutation of the Aggrecan Gene

PubMed Central

Quintos, Jose Bernardo; Guo, Michael H.; Dauber, Andrew

2015-01-01

Background Recently, whole exome sequencing identified heterozygous defects in the Aggrecan gene (ACAN) in three families with short stature and advanced bone age. Objective We report a novel frameshift mutation in ACAN in a family with dominantly inherited short stature, advanced bone age, and premature growth cessation. This is the first case of targeted sequencing of ACAN in this phenotype and confirms that ACAN sequencing is warranted in patients with this rare constellation of findings. Results We present a 5 1/2 year old male with a family history of short stature in 3 generations. The maternal grandfather stands 144.5 cm (Ht SDS -4.7), mother 147.7 cm (Ht SDS -2.6), and index case 99.2 cm (Ht SDS -2.7). Our prepubertal patient has significant bone age advancement (bone age 8 years at chronologic age 5 1/2 years) resulting in a poor predicted adult height of 142 cm (Ht SDS -5.1). DNA sequencing identified a novel heterozygous variant in ACAN, which encodes aggrecan, a proteoglycan in the extracellular matrix of growth plate and other cartilaginous tissues. The mutation (p.Gly1797Glyfs*52) results in premature truncation and presumed loss of protein function. Conclusion Mutations in aggrecan gene should be included in the differential diagnosis of the child with idiopathic short stature or familial short stature and bone age advancement. PMID:25741789

Changes in stature, weight, and nutritional status with tourism-based economic development in the Yucatan.

PubMed

Leatherman, Thomas L; Goodman, Alan H; Stillman, Tobias

2010-07-01

Over the past 40 years, tourism-based economic development has transformed social and economic conditions in the Yucatan Peninsula, Mexico. We address how these changes have influenced anthropometric indicators of growth and nutritional status in Yalcoba, a Mayan farming community involved in the circular migration of labor in the tourist economy. Data are presented on stature and weight for children measured in 1938 in the Yucatan Peninsula and from 1987 to 1998 in the Mayan community of Yalcoba. In addition, stature, weight and BMI are presented for adults in Yalcoba based on clinic records. Childhood stature varied little between 1938 and 1987. Between 1987 and 1998 average male child statures increased by 2.6cm and female child statures increased by 2.7cm. Yet, 65% of children were short for their ages. Between 1987 and 1998, average child weight increased by 1.8kg. Child BMIs were similar to US reference values and 13% were considered to be above average for weight. Forty percent of adult males and 64% of females were overweight or obese. The anthropometric data from Yalcoba suggest a pattern of stunted children growing into overweight adults. This pattern is found elsewhere in the Yucatan and in much of the developing world where populations have experienced a nutrition transition toward western diets and reduced physical activity levels. 2010 Elsevier B.V. All rights reserved.

[How do Affected Children and Adolescents Experience their Short Stature, and what is the Point of View of their Parents?].

PubMed

Quitmann, Julia; Rohenkohl, Anja; Sommer, Rachel; Petzold, Sophie; Bullinger-Naber, Monika

2014-01-01

How do Affected Children and Adolescents Experience their Short Stature, and what is the Point of View of their Parents? Despite a large number of publications on the psychosocial situation of short statured children and their parents only a few qualitative studies focus on the perspective of the affected families. Within the European QoLISSY study ("Quality of Life in Short Stature Youth") an instrument to assess the health related quality of life of short statured children was developed. The aim of this project was to examine the self-perceived quality of life of the children themselves in comparison to their parents' perspective. During the development of the QoLISSY instrument, focus groups were conducted as a first step of this study. A total of 23 short statured children and 31 parents participated and discussed their experiences in separate groups with trained moderators. The discussions were analyzed qualitatively und results were used to generate a first list of items for the questionnaire to be developed. While parents focused on socio-emotional problems, children talked much more about their growth hormone treatment and problems in their social environment. In comparison to other studies children rated their quality of life worse than their parents. Not only medical treatment but also a psychological and socio-emotional intervention seems to be indicated.

Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.

PubMed

Alharthi, Abdulla A; El-Hallous, Ehab I; Talaat, Iman M; Alghamdi, Hamed A; Almalki, Matar I; Gaber, Ahmed

2017-10-01

Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene ( SHOX ) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX . In Saudi Arabia ISS patients, rather than SHOX , it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.

Eight thousand years of economic and political history in Latin America revealed by anthropometry.

PubMed

Bogin, B; Keep, R

1999-01-01

Human growth in height may be used as a cumulative record of the nutritional and health history of a person or a population, and often reflects the economic, social and political environment in which those people live. This paper explores the relationship between growth in height and the economic, social and political environment in Latin American populations. Adult height is analysed over an 8250 year period. It is shown that economic, social and political change prior to the European conquest of the Americas resulted in positive and negative trends in mean stature. Following the European conquest, there was a decline in mean adult stature in Middle and South America that continued until about 1939. From 1940 to 1989 there was a trend for increasing mean stature. A negative trend in stature for children is found in a second analysis. Economic decline and political unrest in Guatemala since 1978 is associated with a significant decline in the mean stature of 10- and 11-year-old children from families from very high, moderate, and very low socioeconomic status.

Exploring the relationship between stride, stature and hand size for forensic assessment.

PubMed

Guest, Richard; Miguel-Hurtado, Oscar; Stevenage, Sarah; Black, Sue

2017-11-01

Forensic evidence often relies on a combination of accurately recorded measurements, estimated measurements from landmark data such as a subject's stature given a known measurement within an image, and inferred data. In this study a novel dataset is used to explore linkages between hand measurements, stature, leg length and stride. These three measurements replicate the type of evidence found in surveillance videos with stride being extracted from an automated gait analysis system. Through correlations and regression modelling, it is possible to generate accurate predictions of stature from hand size, leg length and stride length (and vice versa), and to predict leg and stride length from hand size with, or without, stature as an intermediary variable. The study also shows improved accuracy when a subject's sex is known a-priori. Our method and models indicate the possibility of calculating or checking relationships between a suspect's physical measurements, particularly when only one component is captured as an accurately recorded measurement. Copyright © 2017 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Fine root respiration in the mangrove Rhizophora mangle over variation in forest stature and nutrient availability.

PubMed

Lovelock, Catherine E; Ruess, Roger W; Feller, Ilka C

2006-12-01

Root respiration uses a significant proportion of photosynthetically fixed carbon (C) and is a globally important source of C liberated from soils. Mangroves, which are an important and productive forest resource in many tropical and subtropical countries, sustain a high ratio of root to shoot biomass which may indicate that root respiration is a particularly important component in mangrove forest carbon budgets. Mangroves are often exposed to nutrient pollution from coastal waters. Here we assessed the magnitude of fine root respiration in mangrove forests in Belize and investigated how root respiration is influenced by nutrient additions. Respiration rates of excised fine roots of the mangrove, Rhizophora mangle L., were low (4.01 +/- 0.16 nmol CO(2) g(-1) s(-1)) compared to those measured in temperate tree species at similar temperatures. In an experiment where trees where fertilized with nitrogen (N) or phosphorus (P) in low productivity dwarf forests (1-2 m height) and more productive, taller (4- 7 m height) seaward fringing forests, respiration of fine roots did not vary consistently with fertilization treatments or with forest stature. Fine roots of taller fringe trees had higher concentrations of both N and P compared to dwarf trees. Fertilization with P enhanced fine root P concentrations in both dwarf and fringe trees, but reduced root N concentrations compared to controls. Fertilization with N had no effect on root N or P concentrations. Unlike photosynthetic C gain and growth, which is strongly limited by P availability in dwarf forests at this site, fine root respiration (expressed on a mass basis) was variable, but showed no significant enhancements with nutrient additions. Variation in fine root production and standing biomass are, therefore, likely to be more important factors determining C efflux from mangrove sediments than variations in fine root respiration per unit mass.

Bartter syndrome and growth hormone deficiency: three cases.

PubMed

Buyukcelik, Mithat; Keskin, Mehmet; Kilic, Beltinge Demircioglu; Kor, Yilmaz; Balat, Ayse

2012-11-01

Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalemia, salt loss, and metabolic alkalosis. Short stature is one of the clinical manifestations in these children. Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of short stature in Bartter syndrome is not known. In this study, we present three children diagnosed as having Bartter syndrome with short stature and growth hormone (GH) deficiency. After recombinant human growth hormone therapy (rhGH), their growth velocities were improved. These results indicate that GH deficiency may contribute to short stature in children with Bartter syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.

The Genetic Architecture of Barley Plant Stature

PubMed Central

Alqudah, Ahmad M.; Koppolu, Ravi; Wolde, Gizaw M.; Graner, Andreas; Schnurbusch, Thorsten

2016-01-01

Plant stature in temperate cereals is predominantly controlled by tillering and plant height as complex agronomic traits, representing important determinants of grain yield. This study was designed to reveal the genetic basis of tillering at five developmental stages and plant height at harvest in 218 worldwide spring barley (Hordeum vulgare L.) accessions under greenhouse conditions. The accessions were structured based on row-type classes [two- vs. six-rowed] and photoperiod response [photoperiod-sensitive (Ppd-H1) vs. reduced photoperiod sensitivity (ppd-H1)]. Phenotypic analyses of both factors revealed profound between group effects on tiller development. To further verify the row-type effect on the studied traits, Six-rowed spike 1 (vrs1) mutants and their two-rowed progenitors were examined for tiller number per plant and plant height. Here, wild-type (Vrs1) plants were significantly taller and had more tillers than mutants suggesting a negative pleiotropic effect of this row-type locus on both traits. Our genome-wide association scans further revealed highly significant associations, thereby establishing a link between the genetic control of row-type, heading time, tillering, and plant height. We further show that associations for tillering and plant height are co-localized with chromosomal segments harboring known plant stature-related phytohormone and sugar-related genes. This work demonstrates the feasibility of the GWAS approach for identifying putative candidate genes for improving plant architecture. PMID:27446200

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.

PubMed

Thomas, N Simon; Harvey, John F; Bunyan, David J; Rankin, Julia; Grigelioniene, Giedre; Bruno, Damien L; Tan, Tiong Y; Tomkins, Susan; Hastings, Robert

2009-07-01

Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire SHOX gene but little flanking sequence and so will not encompass any of the long-range enhancers required for SHOX transcription. We now describe the clinical and molecular characterization of three additional cases. The duplications all included the SHOX coding sequence but varied in the amount of flanking sequence involved. The probands were ascertained for a variety of reasons: hypotonia and features of Asperger syndrome, Leri-Weill dyschondrosteosis (LWD), and a family history of cleft palate. However, the presence of a duplication did not correlate with any of these features or with evidence of skeletal abnormality. Remarkably, the proband with LWD had inherited both a SHOX deletion and a duplication. The effect of the duplications on stature was variable: height appeared to be elevated in some carriers, particularly in those with the largest duplications, but was still within the normal range. SHOX duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences.

Effects of Growth Hormone in Chronically Ill Children

ClinicalTrials.gov

2006-02-01

- Hurler Syndrome (MPS-1) With Short Stature and Muscle Wasting; - Cerebral Palsy With Muscle Wasting; - Juvenile Rheumatoid Arthritis With Muscle Wasting and Short Stature; - Crohn’s Disease; - HIV Infection.

Overgrowth.

PubMed

Verge, Charles F; Mowat, David

2010-06-01

Overgrowth presenting at birth requires blood glucose monitoring while a cause is sought. Among older children presenting with tall stature, common causes such as familial tall stature and simple obesity must be distinguished from rarer endocrine and genetic causes. Several genetic overgrowth syndromes carry increased risk of malignancy and regular screening is recommended. The use of high-dose oestrogen or testosterone in an attempt to limit final stature has limited efficacy and carries a significant risk of side effects. Endocrine and genetic assessment ought to be considered for cases of unexplained overgrowth.

Short stature in a mother and daughter with terminal deletion of Xp22.3

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schwinger, E.; Kirschstein, M.; Konermann, T.

1996-05-03

Short stature in females is often caused by homozygosity for the terminal portion of Xp due to monosomy X or a deletion. We report on a mother and daughter with short stature as sole phenotypic abnormality and deletion of bands Xp22.32-p22.33 demonstrated by classic and molecular cytogenetic analysis. In both individuals, the deleted X chromosome was late replicating. Molecular analysis suggested that the deletion is terminal and the breakpoint was localized between the STS and DXS7470 loci in Xp22.32. Chromosome analysis is often done on females with short stature to exclude Ullrich-Turner syndrome. Small deletions, terminal or interstitial, are easilymore » missed by conventional cytogenetic investigation; thus molecular analyses are useful to detect those cases. 8 refs., 3 figs.« less

The Rationale for Growth Hormone Therapy in Children with Short Stature

PubMed Central

Deodati, Annalisa; Cianfarani, Stefano

2017-01-01

Growth hormone (GH) was first isolated from cadaver pituitary glands, requiring laborious and expensive collection of glands, followed by extraction and purification of the hormone. This limited supply restricted its use to children with severe GH deficiency who were treated with low dosages and suboptimal schedules. The development of recombinant DNA-derived GH, allowed the production of virtually unlimited amounts of GH, leading to the approval for therapy for a large number of childhood conditions characterized by non-GH deficient short stature. The aim of this review is to provide a critical overview on the daily use of GH in two paradigmatic conditions of non-GH deficient short stature which are children born small for gestational age and with idiopathic short stature, highlighting the available strength of evidence for efficacy and safety. PMID:29280742

Estimation of stature from hand and foot dimensions in a Korean population.

PubMed

Kim, Wonjoon; Kim, Yong Min; Yun, Myung Hwan

2018-04-01

The estimation of stature using foot and hand dimensions is essential in the process of personal identification. The shapes of feet and hands vary depending on races and gender, and it is of great importance to design an adequate equation in consideration of variances to estimate stature. This study is based on a total of 5,195 South Korean males and females, aged from 20 to 59 years. Body dimensions of stature, hand length, hand breadth, foot length, and foot breadth were measured according to standard anthropometric procedures. The independent t-test was performed in order to verify significant gender-induced differences and the results showed that there was significant difference between males and females for all the foot-hand dimensions (p<0.01). All dimensions showed a positive and statistically significant relation with stature in both genders (p<0.01). For both genders, the foot length showed highest correlation, whereas the hand breadth showed least correlation. The stepwise regression analysis was conducted, and the results showed that males had the highest prediction accuracy in the regression equation consisting of foot length and hand length (R 2 =0.532), whereas females had the highest accuracy in the regression model consisting of foot length and hand breadth (R 2 =0.437) The findings of this study indicated that hand and foot dimensions can be used to predict the stature of South Korean in the forensic science field. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Determination of stature from foot and its segments in a north Indian population.

PubMed

Krishan, Kewal

2008-12-01

Determination of stature is a major concern in forensic medicine and forensic anthropology. When highly decomposed and mutilated dead bodies with fragmentary remains are brought for postmortem examination, it becomes difficult to identify the deceased. In such a situation, even a small clue is useful for forensic pathologist. Determination of stature is an important parameter of personal identification along with others like age, sex, race, etc. The present investigation is an attempt to examine the relationship of stature to foot size of 1040 adult male Gujjars of North India in the age range from 18 to 30 years. In all, 7 anthropometric measurements were taken separately on both left and right feet of each subject. The results show that statistically significant (P < 0.01) bilateral asymmetry exists in T-1, T-2, and T-5 lengths. All the 7 foot measurements selected for the study were found to be strongly and positively correlated (P < 0.001) with stature. The highest correlation coefficients were shown by the toe length measurements (0.79-0.86). Regression analysis (Mean error = 2.03-3.61 cm) gives better reliability of stature estimate than the division factor method (Mean error = 3.27-4.32). The regression formulae were checked for their accuracy and reliability not only in the population group which was originally tested for their formulation (genetically homogeneous population, n = 1040) but also in a sample of mixed population of North India (heterogeneous population, n = 100).

Waist-to-Height Gain and Triiodothyronine Concentrations in a Cohort of Socially Vulnerable Short-Stature Women: A Four-Year Follow-Up Study.

PubMed

Florêncio, Telma M M T; Bueno, Nassib B; Britto, Revilane A P; Albuquerque, Fabiana C A; Lins, Isabela L L; Sawaya, Ana L

2016-01-01

Short stature that results from undernourishment during perinatal period is associated with an increased risk of diabetes and cardiovascular diseases in adulthood, particularly in poor populations. The present study investigated changes on anthropometric and metabolic parameters of socially vulnerable women with short stature. A prospective study with 48 women (19-45 years) who were mothers of undernourished children was conducted. Twenty-five of them were short (height ≤150 cm), and 23 were not short, to serve as a control (height >159 cm). Biochemical, anthropometric and dietary intake data were collected, before and after 4 years of follow-up. A mixed within-between analysis of covariance was used to assess the interaction between 'group' and 'time'. Waist-to-height ratio increased only in the short stature group, with significant interaction (+0.03 ± 0.03 in short group vs. +0.01 ± 0.03 in control; p for interaction = 0.04). The short stature group showed a significant decrease in the plasma triiodothyronine (T3) concentrations, without significant interaction (-0.16 ± 0.23 ng/ml in short group vs. -0.04 ± 0.29 ng/ml in control; p for interaction = 0.20). Women of short stature presented an increase in waist-to-height ratio, with a simultaneous decrease in total plasma T3. These alterations may lead them to increased risk of comorbidities. © 2016 S. Karger AG, Basel.

Changes in intervertebral disk dimensions after a loading task and the relationship with stature change measurements.

PubMed

Lewis, Sandra E; Fowler, Neil E

2009-10-01

Lewis SE, Fowler NE. Changes in intervertebral disk dimensions after a loading task and the relationship with stature change measurements. To test the hypothesis that there would be a linear relationship between overall stature change determined by stadiometry and markers of lumbar disk height loss determined from magnetic resonance imaging (MRI). The short-term loading response of the lumbar spine was evaluated with both stadiometry and MRI, using a within-subject repeated-measures design. Measures were obtained both before and after 15 minutes of walking wearing a weighted vest (20% of body mass). Stature loss measured on the stadiometer was compared with change in lumbar spine length assessed from the MRI images. A university laboratory. Participants (N=13; mean age +/- SD, 28.5+/-5.2y; mean height +/- SD, 1.76+/-0.10m; mean body mass +/- SD, 76.6+/-14.9kg) were invited to take part in the investigation. The group was mixed (9 men, 4 women) and comprised people with no history of low back pain. Not applicable. Lumbar spine length assessed via MRI and stature change measured via stadiometry. A significant height loss was observed over the complete lumbar spine (P<.05), and a significant correlation was found between the decrease in posterior spine length and stature loss (r=.61). The results were supportive of the use of stadiometry as an indirect measure of changes in intervertebral disk height.

[Clinical and molecular study in a family with cleidocranial dysplasia].

PubMed

Callea, Michele; Fattori, Fabiana; Bertini, Enrico S; Yavuz, Izzet; Bellacchio, Emanuele; Avendaño, Andrea; Araque, Dianora; Lacruz-Rengel, María A; Da Silva, Gloria; Cammarata-Scalisi, Francisco

2017-12-01

Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is Estudio clínico y molecular en una familia con displasia cleidocraneal Clinical and molecular study in a family with cleidocranial dysplasia produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G> A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation in these patients with the same genotype. Sociedad Argentina de Pediatría.

Northern Mountain and Prairie Community Tree Guide

Treesearch

E.G. McPherson; J.R. Simpson; P.J. Peper; S.E. Maco; Q. Xiao; P.J. Hoefer

2003-01-01

This tree guide quantifies benefits and costs for typical large-, medium-, small-stature, deciduous trees, as well as a conifer. The analysis assumed that trees were planted in a residential yard site or a public (street/park) site, under a 40-year time frame, and having a 60% survival rate. Tree care costs were based on findings from a survey of municipal and...

Estimation of stature using anthropometry of feet and footprints in a Western Australian population.

PubMed

Hemy, Naomi; Flavel, Ambika; Ishak, Nur-Intaniah; Franklin, Daniel

2013-07-01

The aim of the study is to develop accurate stature estimation models for a contemporary Western Australian population from measurements of the feet and footprints. The sample comprises 200 adults (90 males, 110 females). A stature measurement, three linear measurements from each foot and bilateral footprints were collected from each subject. Seven linear measurements were then extracted from each print. Prior to data collection, a precision test was conducted to determine the repeatability of measurement acquisition. The primary data were then analysed using a range of parametric statistical tests. Results show that all foot and footprint measurements were significantly (P < 0.01-0.001) correlated with stature and estimation models were formulated with a prediction accuracy of ± 4.673 cm to ± 6.926 cm. Left foot length was the most accurate single variable in the simple linear regressions (males: ± 5.065 cm; females: ± 4.777 cm). This study provides viable alternatives for estimating stature in a Western Australian population that are equivalent to established standards developed from foot bones. Copyright © 2013 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Head-body ratio as a visual cue for stature in people and sculptural art.

PubMed

Mather, George

2010-01-01

Body size is crucial for determining the outcome of competition for resources and mates. Many species use acoustic cues to measure caller body size. Vision is the pre-eminent sense for humans, but visual depth cues are of limited utility in judgments of absolute body size. The reliability of internal body proportion as a potential cue to stature was assessed with a large sample of anthropometric data, and the ratio of head height to body height (HBR) was found to be highly correlated with stature. A psychophysical experiment was carried out to investigate whether the cue actually influences stature judgments. Participants were shown pairs of photographs of human figures in which HBR had been manipulated systematically, and asked to select the figure that appeared taller. Results showed that figures with a relatively small HBR were consistently perceived as taller than figures with a relatively large HBR. Many classical statues such as Michelangelo's David depart from the classical proportions defined in Leonardo's Vitruvian Man. A supplementary experiment showed that perceived stature in classical statues also depends on HBR. Michelangelo's David was created with the HBR of a man 165 cm (5 ft 5 in) tall.

Pituitary stalk compression by the dorsum sellae: possible cause for late childhood onset growth disorders.

PubMed

Taoka, Toshiaki; Iwasaki, Satoru; Okamoto, Shingo; Sakamoto, Masahiko; Nakagawa, Hiroyuki; Otake, Shoichiro; Fujioka, Masayuki; Hirohashi, Shinji; Kichikawa, Kimihiko

2006-06-01

The purpose of this study was to evaluate the relationship between pituitary stalk compression by the dorsum sellae and clinical or laboratory findings in short stature children. We retrospectively reviewed magnetic resonance images of the pituitary gland and pituitary stalk for 34 short stature children with growth hormone (GH) deficiency and 24 age-matched control cases. We evaluated the degree of pituitary stalk compression caused by the dorsum sellae. Body height, GH level, pituitary height and onset age of the short stature were statistically compared between cases of pituitary stalk compression with associated stalk deformity and cases without compression. Compression of the pituitary stalk with associated stalk deformity was seen in nine cases within the short stature group. There were no cases observed in the control group. There were no significant differences found for body height, GH level and pituitary height between the cases of pituitary stalk compression with associated stalk deformity and cases without compression. However, a significant difference was seen in the onset age between cases with and without stalk compression. Pituitary stalk compression with stalk deformity caused by the dorsum sellae was significantly correlated with late childhood onset of short stature.

Genome-wide association study identified three major QTL for carcass weight including the PLAG1-CHCHD7 QTN for stature in Japanese Black cattle

PubMed Central

2012-01-01

Background Significant quantitative trait loci (QTL) for carcass weight were previously mapped on several chromosomes in Japanese Black half-sib families. Two QTL, CW-1 and CW-2, were narrowed down to 1.1-Mb and 591-kb regions, respectively. Recent advances in genomic tools allowed us to perform a genome-wide association study (GWAS) in cattle to detect associations in a general population and estimate their effect size. Here, we performed a GWAS for carcass weight using 1156 Japanese Black steers. Results Bonferroni-corrected genome-wide significant associations were detected in three chromosomal regions on bovine chromosomes (BTA) 6, 8, and 14. The associated single nucleotide polymorphisms (SNP) on BTA 6 were in linkage disequilibrium with the SNP encoding NCAPG Ile442Met, which was previously identified as a candidate quantitative trait nucleotide for CW-2. In contrast, the most highly associated SNP on BTA 14 was located 2.3-Mb centromeric from the previously identified CW-1 region. Linkage disequilibrium mapping led to a revision of the CW-1 region within a 0.9-Mb interval around the associated SNP, and targeted resequencing followed by association analysis highlighted the quantitative trait nucleotides for bovine stature in the PLAG1-CHCHD7 intergenic region. The association on BTA 8 was accounted for by two SNP on the BovineSNP50 BeadChip and corresponded to CW-3, which was simultaneously detected by linkage analyses using half-sib families. The allele substitution effects of CW-1, CW-2, and CW-3 were 28.4, 35.3, and 35.0 kg per allele, respectively. Conclusion The GWAS revealed the genetic architecture underlying carcass weight variation in Japanese Black cattle in which three major QTL accounted for approximately one-third of the genetic variance. PMID:22607022

Stature of Sub-arctic Birch in Relation to Growth Rate, Lifespan and Tree Form

PubMed Central

JÓNSSON, THORBERGUR HJALTI

2004-01-01

• Background and Aims Sub-arctic mountain birch Betula pubescens var. pumila communities in the North Atlantic region are of variable stature, ranging from prostrate scrubs to forests with trees up to 12 m high. Four hypotheses were tested, relating growth and population characteristics of sub-arctic birch woodland and scrub to tree stature; i.e. the variable stature of birch woods is due to differences in (1) the mean growth rate; (2) the age-related patterns of growth rate; (3) the life expectancy of stems; or (4) the tree form. • Methods A stratified random sample of 300 birch trees was drawn from the total population of indigenous birch woodlands and scrub in Iceland, yielding 286 valid sample genets. The population was divided into three sub-populations with dominant trees 0–2, 2–4 and 4–12 m tall, referred to as birch scrub, birch scrub-woodland and birch forest, respectively. • Key Results Trees in the scrub population were of more contorted growth form than birch in the scrub-woodland and forest populations. Mean growth rates, mean age and median life expectancies increased significantly with sub-population of greater tree stature. At the population level, annual increment and longevity of birch stems was apparently interrelated as the stems in vigorously growing birch sub-populations had a longer life expectancy than those of slower growth. However, no difference was observed between sub-populations in age-related patterns of extension growth rate. • Conclusions The results were consistent with hypotheses (1), (3) and (4), but hypothesis (2) was rejected. Hence, mountain birch of more vigorous growth attains a greater stature than birch of lesser increment due to faster extension growth rate and a longer lifespan. In addition, the more contorted stem form of scrub populations contributes to their low stature. PMID:15374837

The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).

PubMed

De Sanctis, Vincenzo; Tosetto, Ilaria; Iughetti, Lorenzo; Antoniazzi, Franco; Clementi, Maurizio; Toffolutti, Tiziana; Facchin, Paola; Monti, Elena; Pisanello, Lorena; Tonini, Giorgio; Greggio, Nella A

2012-08-01

The growth of the human body depends from a complex interaction between nutritional, environmental and hormonal factors and by a large number of different genes. One of these genes, short stature homeobox (SHOX), is believed to play a major role in growth. SHOX haploinsufficiency is associated with a wide spectrum of conditions, all characterized growth failure such as Leri-Weill dyschondrosteosis, Turner syndrome, short stature with subtle auxological and radiological findings and the so called "idiopathic short stature" (short stature with no specific findings other than growth failure). The document was prepared by a multidisciplinary team (paediatric endocrinologists, paediatrician, radiologist, geneticist and epidemiologist) to focus on the investigation of children with suspected SHOX- deficiency (SHOX-D) for an early identification and a correct diagnostic work - up of this genetic disorder. On the basis of a number of screening studies, SHOX-D appears to be a relatively frequent cause of short stature. The following recommendations were suggested by our multidisciplinary team: (i) a careful family history, measurements of body proportions and detection of any dysmorphic features are important for the suspect of a genetic disorder ,(ii)the presence of any combination of the following physical findings, such as reduced arm span/height ratio, increased sitting height/height ratio, above average BMI, Madelung deformity, cubitus valgus, short or bowed forearm, dislocation of the ulna at the elbow, or the appearance of muscular hypertrophy, should prompt the clinician to obtain a molecular analysis of the SHOX region, (iii) it is of practical importance to recognise early or mild signs of Madelung deformity on hand and wrist radiographs, (iv) growth hormone ,after stimulation test, is usually normal. However, treatment with rhGH may improve final adult height; the efficacy of treatment is similar to that observed in those treated for Turner syndrome.

Growth hormone (GH) dosing during catch-up growth guided by individual responsiveness decreases growth response variability in prepubertal children with GH deficiency or idiopathic short stature.

PubMed

Kriström, Berit; Aronson, A Stefan; Dahlgren, Jovanna; Gustafsson, Jan; Halldin, Maria; Ivarsson, Sten A; Nilsson, Nils-Osten; Svensson, Johan; Tuvemo, Torsten; Albertsson-Wikland, Kerstin

2009-02-01

Weight-based GH dosing results in a wide variation in growth response in children with GH deficiency (GHD) or idiopathic short stature (ISS). The hypothesis tested was whether individualized GH doses, based on variation in GH responsiveness estimated by a prediction model, reduced variability in growth response around a set height target compared with a standardized weight-based dose. A total of 153 short prepubertal children diagnosed with isolated GHD or ISS (n = 43) and at least 1 SD score (SDS) below midparental height SDS (MPH(SDS)) were included in this 2-yr multicenter study. The children were randomized to either a standard (43 microg/kg.d) or individualized (17-100 microg/kg.d) GH dose. We measured the deviation of height(SDS) from individual MPH(SDS) (diffMPH(SDS)). The primary endpoint was the difference in the range of diffMPH(SDS) between the two groups. The diffMPH(SDS) range was reduced by 32% in the individualized-dose group relative to the standard-dose group (P < 0.003), whereas the mean diffMPH(SDS) was equal: -0.42 +/- 0.46 and -0.48 +/- 0.67, respectively. Gain in height(SDS) 0-2 yr was equal for the GH-deficient and ISS groups: 1.31 +/- 0.47 and 1.36 +/- 0.47, respectively, when ISS was classified on the basis of maximum GH peak on the arginine-insulin tolerance test or 24-h profile. Individualized GH doses during catch-up growth significantly reduce the proportion of unexpectedly good and poor responders around a predefined individual growth target and result in equal growth responses in children with GHD and ISS.

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.

PubMed

Al-Dosari, Mohammed S; Al-Shammari, Muneera; Shaheen, Ranad; Faqeih, Eissa; Alghofely, Mohammed A; Boukai, Ahmad; Alkuraya, Fowzan S

2012-07-01

To characterize, via clinical and molecul criteria, a cohort of patients with 3M syndrome and thereby increase awareness of this syndrome as a recognizable cause of proportionate short stature. We conducted a case series of patients referred to clinical genetics for proportionate short stature. CUL7, OBSL1, and CCDC8 genes were clinically phenotyped and sequenced. In 6 Saudi families with 3M syndrome, we identified three CUL7, one OBSL1, and one CCDC8 novel mutations, which we show result in a remarkably similar clinical phenotype. Despite their typical and easily discernible clinical phenotype, all these patients have been extensively investigated for alternative causes of their short stature and received erroneous diagnoses. Increased awareness about this syndrome among pediatricians and endocrinologists is needed to avoid a costly and unnecessary diagnostic odyssey. Copyright © 2012 Mosby, Inc. All rights reserved.

Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency.

PubMed

Munns, C F J; Berry, M; Vickers, D; Rappold, G A; Hyland, V J; Glass, I A; Batch, J A

2003-09-01

Leri-Weill syndrome (LWS) is a skeletal dysplasia with mesomelic short stature, bilateral Madelung deformity (BMD) and SHOX (short stature homeobox-containing gene) haploinsufficiency. The effect of 24 months of recombinant human growth hormone (rhGH) therapy on the stature and BMD of two females with SHOX haploinsufficiency (demonstrated by fluorescence in situ hybridisation) and LWS was evaluated. Both patients demonstrated an increase in height standard deviation score (SDS) and height velocity SDS over the 24 months of therapy. Patient 1 demonstrated a relative increase in arm-span and upper segment measurements with rhGH while patient 2 demonstrated a relative increase in lower limb length. There was appropriate advancement of bone age, no adverse events and no significant deterioration in BMD. In this study, 24 months of rhGH was a safe and effective therapy for the disproportionate short stature of SHOX haploinsufficiency, with no clinical deterioration of BMD.

Estimation of stature from radiologic anthropometry of the lumbar vertebral dimensions in Chinese.

PubMed

Zhang, Kui; Chang, Yun-feng; Fan, Fei; Deng, Zhen-hua

2015-11-01

The recent study was to assess the relationship between the radiologic anthropometry of the lumbar vertebral dimensions and stature in Chinese and to develop regression formulae to estimate stature from these dimensions. A total of 412 normal, healthy volunteers, comprising 206 males and 206 females, were recruited. The linear regression analysis were performed to assess the correlation between the stature and lengths of various segments of the lumbar vertebral column. Among the regression equations created for single variable, the predictive value was greatest for the reconstruction of stature from the lumbar segment in both sexes and subgroup analysis. When individual vertebral body was used, the heights of posterior vertebral body of L3 gave the most accurate results for male group, the heights of central vertebral body of L1 provided the most accurate results for female group and female group with age above 45 years, the heights of central vertebral body of L3 gave the most accurate results for the groups with age from 20-45 years for both sexes and the male group with age above 45 years. The heights of anterior vertebral body of L5 gave the less accurate results except for the heights of anterior vertebral body of L4 provided the less accurate result for the male group with age above 45 years. As expected, multiple regression equations were more successful than equations derived from a single variable. The research observations suggest lumbar vertebral dimensions to be useful in stature estimation among Chinese population. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.

PubMed

Goecke, C; Mellado, C; García, C; García, H

2018-02-01

Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. To describe a case of NPS with short stature and hypothyroidism, an association that has not been described in the literature. An eleven-year-old boy with a height of 130 cm (-2.01 Stan dard Deviations [SD]) was referred to the Endocrine Unit at the age of 2 years due to altered thyroid tests. At that time, dysplastic nails and disproportionate short stature were detected. Radiological abnormalities initially suggested a skeletal dysplasia. A primary hypothyroidism was confirmed, without anti-thyroid antibodies and with a normal thyroid ultrasound. Levothyroxine treatment was initiated. The diagnosis of NPS was confirmed by a genetic study with a single pathogenic variant in the LMX1B gene. His father presented a similar phenotype with normal stature. His bone age was equivalent to his chronological age. Laboratory screening for short stature and a GH stimulation test were normal. We present a child with proven NPS with short stature and hypothyroi dism. We did not find publications that described this triple association. It can't be ruled out that there could be a relationship between NPS and the thyroid alterations found in this patient.

Stature estimation equations for South Asian skeletons based on DXA scans of contemporary adults.

PubMed

Pomeroy, Emma; Mushrif-Tripathy, Veena; Wells, Jonathan C K; Kulkarni, Bharati; Kinra, Sanjay; Stock, Jay T

2018-05-03

Stature estimation from the skeleton is a classic anthropological problem, and recent years have seen the proliferation of population-specific regression equations. Many rely on the anatomical reconstruction of stature from archaeological skeletons to derive regression equations based on long bone lengths, but this requires a collection with very good preservation. In some regions, for example, South Asia, typical environmental conditions preclude the sufficient preservation of skeletal remains. Large-scale epidemiological studies that include medical imaging of the skeleton by techniques such as dual-energy X-ray absorptiometry (DXA) offer new potential datasets for developing such equations. We derived estimation equations based on known height and bone lengths measured from DXA scans from the Andhra Pradesh Children and Parents Study (Hyderabad, India). Given debates on the most appropriate regression model to use, multiple methods were compared, and the performance of the equations was tested on a published skeletal dataset of individuals with known stature. The equations have standard errors of estimates and prediction errors similar to those derived using anatomical reconstruction or from cadaveric datasets. As measured by the number of significant differences between true and estimated stature, and the prediction errors, the new equations perform as well as, and generally better than, published equations commonly used on South Asian skeletons or based on Indian cadaveric datasets. This study demonstrates the utility of DXA scans as a data source for developing stature estimation equations and offer a new set of equations for use with South Asian datasets. © 2018 Wiley Periodicals, Inc.

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

PubMed

Shima, Hirohito; Tanaka, Toshiaki; Kamimaki, Tsutomu; Dateki, Sumito; Muroya, Koji; Horikawa, Reiko; Kanno, Junko; Adachi, Masanori; Naiki, Yasuhiro; Tanaka, Hiroyuki; Mabe, Hiroyo; Yagasaki, Hideaki; Kure, Shigeo; Matsubara, Yoichi; Tajima, Toshihiro; Kashimada, Kenichi; Ishii, Tomohiro; Asakura, Yumi; Fujiwara, Ikuma; Soneda, Shun; Nagasaki, Keisuke; Hamajima, Takashi; Kanzaki, Susumu; Jinno, Tomoko; Ogata, Tsutomu; Fukami, Maki

2016-07-01

The etiology of idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD) in European patients is known to include SHOX mutations and copy-number variations (CNVs) involving SHOX and/or the highly evolutionarily conserved non-coding DNA elements (CNEs) flanking the gene. However, the frequency and types of SHOX abnormalities in non-European patients and the clinical importance of mutations in the CNEs remains to be clarified. Here, we performed systematic molecular analyses of SHOX for 328 Japanese patients with ISS or LWD. SHOX abnormalities accounted for 3.8% of ISS and 50% of LWD cases. CNVs around SHOX were identified in 16 cases, although the ~47 kb deletion frequently reported in European patients was absent in our cases. Probably damaging mutations and benign/silent substitutions were detected in four cases, respectively. Although CNE-linked substitutions were detected in 15 cases, most of them affected poorly conserved nucleotides and were shared by unaffected individuals. These results suggest that the frequency and mutation spectrum of SHOX abnormalities are comparable between Asian and European patients, with the exception of a European-specific downstream deletion. Furthermore, this study highlights the clinical importance and genetic heterogeneity of the SHOX-flanking CNVs, and indicates a limited clinical significance of point mutations in the CNEs.

Mate choice and human stature: homogamy as a unified framework for understanding mating preferences.

PubMed

Courtiol, Alexandre; Raymond, Michel; Godelle, Bernard; Ferdy, Jean-Baptiste

2010-08-01

Assortative mating for human height has long attracted interest in evolutionary biology, and the phenomenon has been demonstrated in numerous human populations. It is often argued that mating preferences generate this pattern, but other processes can also induce trait correlations between mates. Here, we present a methodology tailored to quantify continuous preferences based on choice experiments between pairs of stimuli. In particular, it is possible to explore determinants of interindividual variations in preferences, such as the height of the chooser. We collected data from a sample of 200 individuals from France. Measurements obtained show that the perception of attractiveness depends on both the height of the stimuli and the stature of the individual who judged them. Therefore, this study demonstrates that homogamy is present at the level of preferences for both sexes. We also show that measurements of the function describing this homogamy are concordant with several distinct mating rules proposed in the literature. In addition, the quantitative approach introduced here fulfills metrics that can be used to compare groups of individuals. In particular, our results reveal an important disagreement between sexes regarding height preferences in the context of mutual mate choice. Finally, both women and men prefer individuals who are significantly taller than average. All major findings are confirmed by a reanalysis of previously published data.

Psychometric properties of the Chinese version of the pediatric quality of life inventory 4.0 Generic core scales among children with short stature.

PubMed

Wu, Hua-hong; Li, Hui; Gao, Qian

2013-05-30

The quality of life in children with short stature was rarely studied in China, so we explore these children's quality of life and psychometric properties of the Chinese version of the Pediatric Quality of Life Inventory 4.0(PedsQL4.0) Generic Core Scales among children with short stature. A total of 201 children aged 8 ~ 18 years from the short stature clinic and other clinics of capital institute of pediatrics attended this study. The questionnaires include demographic information and PedsQL4.0 generic core scales. According to children's height, we divided them into three groups: short stature, normal short and normal group, then compared the score of scales by the height category. Moreover, we analyzed the reliability and validity of PedsQL4.0 generic core scales in these 201 children. The child self-report total PedsQL mean score, for the short stature, normal short and normal groups were 77.77 ± 9.69, 83.50 ± 8.56 and 87.36 ± 7.23; the parent-proxy total PedsQL mean score were 77.62 ± 10.50, 82.69 ± 8.35 and 84.91 ± 9.96 respectively. Both for children self- and parent proxy-reports, the Cronbach's α coefficients of total scale, psychosocial health and social functioning ranged between 0.74 and 0.80, it ranged between 0.51 and 0.66 in other dimensions. For child self-reports, the correlation coefficients of 17 items' scores (total 23 items) with the scores of dimensions they belong to were above 0.5, with the highest 0.759; the other 6 items' correlation coefficients were below 0.5, with the lowest 0.280. For parent proxy-reports, the correlation coefficients of 19 items' scores with the scores of dimension they belong to were above 0.5, with the highest 0.793, the other 4 items' below 0.5 with the lowest 0.243. The quality of life in children with short stature is worse than their normal peers by Peds QL4.0 generic core scales, the statues of their quality of life was positively related to their stature.

[Growth in children with diabetes insipidus].

PubMed

Morla Báez, E; Dorantes Alvarez, L M; Chavarría Bonequi, C

1980-01-01

Commercial preparations of vasopressin for the treatment of diabetes insipidus are not available in Mexico. Besides, the hormone is useless in the nephrogenic variety. In the department of Endocrinology at the Hospital Infantil de Mexico, a preparation containing hydrochlorothiazide, aminopyrine and potassium chloride, which reduces urinary volumes in about two thirds, is employed in all varieties of the disease. Growth in stature was investigated in 44 patients under treatment, attending the Endocrine Outpatient Clinic since 1967 for a period of 2 to 12 years. Clinical material included 29 males and 15 females. There were 23 idiopathic, 7 histiocytosis, 5 nephrogenic, 4 craniopharyngiomas, 2 psychogenic polydipsia, 2 traumatic and 1, as a sequel of tuberculous meningoencephalitis. Six idiopathic, 2 nephrogenic, 2 traumatic, 1 histiocytosis, and 1 psychogenic proceeded between percentiles 3 and 97, parallel to the nearest line of reference along the whole period of study. Two nephrogenic, 2 histiocytosis, 1 psychogenic, 1 post-meningoencephalitis and 14 idiopathic, grew below the third percentile, but parallel to it. One nephrogenic, 4 histiocytosis, 4 craniopharyngioma and 3 idiopathic progressively departed from the initial centile. Two of the latter had growth hormone deficiency, and 1 had been very irregularly treated. It is concluded that the therapy employed limits stature impairment but does not produce catch-up growth. Accordingly, it is proposed that the treatment of diabetes insipidus should be started as early as possible, and that if progress in stature is appreciably deteriorated, the presence of additional pathology should be suspected.

Shared Genetic Architecture in the Relationship between Adult Stature and Subclinical Coronary Artery Atherosclerosis

PubMed Central

Cassidy-Bushrow, Andrea E.; Bielak, Lawrence F.; Sheedy, Patrick F.; Turner, Stephen T.; Chu, Julia S.; Peyser, Patricia A.

2011-01-01

Background Short stature is associated with increased risk of coronary heart disease (CHD); although the mechanisms for this relationship are unknown, shared genetic factors have been proposed. Subclinical atherosclerosis, measured by coronary artery calcification (CAC), is associated with CHD events and represents part of the biological continuum to overt CHD. Many molecular mechanisms of CAC development are shared with bone growth. Thus, we examined whether there was evidence of shared genes (pleiotropy) between adult stature and CAC. Methods 877 asymptomatic white adults (46% men) from 625 families in a community-based sample had computed tomography measures of CAC. Pleiotropy between height and CAC was determined using maximum-likelihood estimation implemented in SOLAR. Results Adult height was significantly and inversely associated with CAC score (P=0.01). After adjusting for age, sex, and CHD risk factors, the estimated genetic correlation between height and CAC score was -0.37 and was significantly different than 0 (P=0.001) and -1 (P<0.001). The environmental correlation between height and CAC score was 0.60 and was significantly different than 0 (P=0.024). Conclusions Further studies of shared genetic factors between height and CAC may provide important insight into the complex genetic architecture of CHD, in part through increased understanding of the molecular pathways underlying the process of both normal growth and disease development. Bivariate genetic linkage analysis may provide a powerful mechanism for identifying specific genomic regions associated with both height and CAC. PMID:21937044

Shared genetic architecture in the relationship between adult stature and subclinical coronary artery atherosclerosis.

PubMed

Cassidy-Bushrow, Andrea E; Bielak, Lawrence F; Sheedy, Patrick F; Turner, Stephen T; Chu, Julia S; Peyser, Patricia A

2011-12-01

Short stature is associated with increased risk of coronary heart disease (CHD); although the mechanisms for this relationship are unknown, shared genetic factors have been proposed. Subclinical atherosclerosis, measured by coronary artery calcification (CAC), is associated with CHD events and represents part of the biological continuum to overt CHD. Many molecular mechanisms of CAC development are shared with bone growth. Thus, we examined whether there was evidence of shared genes (pleiotropy) between adult stature and CAC. 877 Asymptomatic white adults (46% men) from 625 families in a community-based sample had computed tomography measures of CAC. Pleiotropy between height and CAC was determined using maximum-likelihood estimation implemented in SOLAR. Adult height was significantly and inversely associated with CAC score (P = 0.01). After adjusting for age, sex and CHD risk factors, the estimated genetic correlation between height and CAC score was -0.37 and was significantly different than 0 (P = 0.001) and -1 (P < 0.001). The environmental correlation between height and CAC score was 0.60 and was significantly different than 0 (P = 0.024). Further studies of shared genetic factors between height and CAC may provide important insight into the complex genetic architecture of CHD, in part through increased understanding of the molecular pathways underlying the process of both normal growth and disease development. Bivariate genetic linkage analysis may provide a powerful mechanism for identifying specific genomic regions associated with both height and CAC. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

PubMed Central

de Almeida, J C; Reis, D F; Llerena Júnior, J; Barbosa Neto, J; Pontes, R L; Middleton, S; Telles, L F

1991-01-01

Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance. Images PMID:1856836

Controversies in the definition and treatment of idiopathic short stature (ISS).

PubMed

Pedicelli, Stefania; Peschiaroli, Emanuela; Violi, Enrica; Cianfarani, Stefano

2009-01-01

The term idiopathic short stature (ISS) refers to short children with no identifiable disorder of the growth hormone (GH)/insulin like growth factor (IGF) axis and no other endocrine, genetic or organ system disorder. This heterogeneous group of short children without GH deficiency (GHD) includes children with constitutional delay of growth and puberty, familial short stature, or both, as well as those with subtle cartilage and bone dysplasias. In rare cases, ISS is due to IGF molecular abnormalities. In this review we tackle the major challenges in the definition and treatment of ISS.

Growth pattern and age at menarche of obese girls in a transitional society.

PubMed

Jaruratanasirikul, S; Mo-suwan, L; Lebel, L

1997-01-01

Childhood obesity is an increasing problem in a transitional society such as Thailand. To study physical growth and puberty in obese children, a cross-sectional survey of growth and age at menarche was carried out in schoolgirls aged between 8 and 16 years old. The 3,120 girls were divided into two groups based on weight-for-height criteria. Girls with weight-for-height between 80 and 120% were classified as normal stature (2,625; 84.1%) and those more than 120% were obese (495; 15.9%). Using probit analysis, age at menarche in obese girls was 0.9 year earlier than normal stature girls (11.5 years vs 12.4 years). At age 12, obese girls were reaching menarche 2.8 times more when compared with the normal stature girls. In terms of growth pattern, obese girls were taller and grew faster during the prepubertal period, and then reached their final height earlier than the normal stature girls (13 years vs 15 years). The final height in obese girls was significantly shorter (153.0 cm and 155.0 cm, p = 0.01). We conclude that: 1) obese girls grow faster, have earlier menarche and then stop growing earlier, and 2) obese girls tend to be shorter as adults, compared with normal stature girls.

Ghrelin plasma levels in patients with idiopathic short stature.

PubMed

Iñiguez, Germán; Román, Rossana; Youlton, Ronald; Cassorla, Fernando; Mericq, Verónica

2011-02-01

Novel molecular insights have suggested that ghrelin may be involved in the pathogenesis of some forms of short stature. Recently, growth hormone secretagogue receptor (GHSR) mutations that segregate with short stature have been reported. To study plasma ghrelin levels in prepubertal patients with idiopathic short stature (ISS). Fasting total plasma ghrelin levels (radioimmunoassay) in 41 prepubertal patients with ISS (18 females, age 7.9 ± 0.5 years) compared with 42 age- and sex-matched controls (27 females, age 8.0 ± 0.3 years) with normal height. In a subset of 28 patients, the ghrelin receptor was sequenced. ISS patients exhibited a higher level of ghrelin (1,458 ± 137 vs. 935 ± 55 pg/ml, p < 0.01) and similar IGF-I levels (-0.66 ± 1.29 vs. -0.32 ± 0.78 SDS) compared to controls. Ten patients with ISS had ghrelin levels greater than +2 SDS compared to controls. These patients did not differ in height, BMI or IGF-I SDS compared to ISS patients with ghrelin levels within the normal range. Molecular analysis of GHSR did not show any mutations, but showed some polymorphisms. These results suggest that in ISS patients, short stature does not appear to be frequently caused by abnormalities in ghrelin signaling. Copyright © 2010 S. Karger AG, Basel.

Anthropometry for design for the elderly.

PubMed

Kothiyal, K; Tettey, S

2001-01-01

This paper presents anthropometric data on elderly people in Australia. Data were collected in the metropolitan city of Sydney, NSW, Australia. In all 171 elderly people (males and females, aged 65 years and above) took part in the study. Mean values, standard deviations, medians, range, and coefficients of variation for the various body dimensions were estimated. Correlation coefficients were also calculated to determine the relationship between different body dimensions for the elderly population. The mean stature of elderly Australian males and females were compared with populations from other countries. The paper discusses design implications for elderly people and provides several examples of application of the anthropometric data.

Early Life Conditions and Physiological Stress following the Transition to Farming in Central/Southeast Europe: Skeletal Growth Impairment and 6000 Years of Gradual Recovery

PubMed Central

Macintosh, Alison A.; Pinhasi, Ron; Stock, Jay T.

2016-01-01

Early life conditions play an important role in determining adult body size. In particular, childhood malnutrition and disease can elicit growth delays and affect adult body size if severe or prolonged enough. In the earliest stages of farming, skeletal growth impairment and small adult body size are often documented relative to hunter-gatherer groups, though this pattern is regionally variable. In Central/Southeast Europe, it is unclear how early life stress, growth history, and adult body size were impacted by the introduction of agriculture and ensuing long-term demographic, social, and behavioral change. The current study assesses this impact through the reconstruction and analysis of mean stature, body mass, limb proportion indices, and sexual dimorphism among 407 skeletally mature men and women from foraging and farming populations spanning the Late Mesolithic through Early Medieval periods in Central/Southeast Europe (~7100 calBC to 850 AD). Results document significantly reduced mean stature, body mass, and crural index in Neolithic agriculturalists relative both to Late Mesolithic hunter-gatherer-fishers and to later farming populations. This indication of relative growth impairment in the Neolithic, particularly among women, is supported by existing evidence of high developmental stress, intensive physical activity, and variable access to animal protein in these early agricultural populations. Among subsequent agriculturalists, temporal increases in mean stature, body mass, and crural index were more pronounced among Central European women, driving declines in the magnitude of sexual dimorphism through time. Overall, results suggest that the transition to agriculture in Central/Southeast Europe was challenging for early farming populations, but was followed by gradual amelioration across thousands of years, particularly among Central European women. This sex difference may be indicative, in part, of greater temporal variation in the social status afforded to young girls, in their access to resources during growth, and/or in their health status than was experienced by men. PMID:26844892

Effect of ethnicity and sex on the growth of the axial and appendicular skeleton of children living in a developing country.

PubMed

Nyati, Lukhanyo H; Norris, Shane A; Cameron, Noel; Pettifor, John M

2006-05-01

Bones in the axial and appendicular skeletons exhibit heterogeneous growth patterns between different ethnic and sex groups. However, the influence of this differential growth on the expression of bone mineral content is not yet established. The aims of the present study were to investigate: 1) whether there are ethnic and sex differences in axial and appendicular dimensions of South African children; and 2) whether regional segment length is a better predictor of bone mass than stature. Anthropometric measurements of stature, weight, sitting height, and limb lengths were taken on 368 black and white, male and female 9-year-old children. DXA (dual-energy x-ray absorptiometry) scans of the distal ulna, distal radius, and hip and lumbar spine were also obtained. Analyses of covariance were performed to assess differences in limb lengths, adjusted for differences in stature. Multiple regression analyses were used to assess significant predictors of site-specific bone mass. Stature-adjusted means of limb lengths show that black boys have longer legs and humeri but shorter trunks than white boys. In addition, black children have longer forearms than white children, and girls have longer thighs than boys. The regression analysis demonstrated that site-specific bone mass was more strongly associated with regional segment length than stature, but this had little effect on the overall pattern of ethnic and sex differences. In conclusion, there is a differential effect of ethnicity and sex on the growth of the axial and appendicular skeletons, and regional segment length is a better predictor of site-specific bone mass than stature. Copyright 2005 Wiley-Liss, Inc.

Amino-terminal propeptide of C-type natriuretic peptide and linear growth in children: effects of puberty, testosterone, and growth hormone.

PubMed

Olney, Robert C; Prickett, Timothy C R; Yandle, Timothy G; Espiner, Eric A; Han, Joan C; Mauras, Nelly

2007-11-01

C-type natriuretic peptide (CNP), a paracrine factor of the growth plate, plays a key role in stimulating bone growth. The amino-terminal propeptide of CNP (NTproCNP) is produced in equimolar amounts with CNP and is measurable in plasma, providing a potential biomarker for growth plate activity and, hence, linear growth. We explored the effects of puberty, testosterone, and GH treatment on NTproCNP levels in normal and short-statured children. This was a retrospective analysis of samples obtained during previous studies. The study was conducted at a pediatric clinical research center. Children with short stature due to GH deficiency, idiopathic short stature (ISS), or constitutional delay of growth and maturation (CDGM) were studied (n = 37). A cohort of normal-statured adolescent boys was also studied (n = 23). Children with GH deficiency and ISS were studied before and during testosterone and/or GH treatment. Boys with CDGM and healthy controls were studied once. The main outcomes were NTproCNP levels before and during growth-promoting therapy and during pubertal growth. Children with short stature due to GH deficiency, ISS, or CDGM had comparable baseline levels of NTproCNP, and levels increased markedly in response to GH or testosterone treatment. In boys with CDGM, levels were comparable with height-matched controls but were less than those from age-matched controls. In healthy boys, NTproCNP appears to peak with the pubertal growth spurt. NTproCNP levels increase during growth-promoting therapy and are increased during puberty in boys. This novel biomarker of growth may have clinical utility in the evaluation of children with short stature and for monitoring growth-promoting therapy.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

PubMed Central

Gkourogianni, Alexandra; Andrew, Melissa; Tyzinski, Leah; Crocker, Melissa; Douglas, Jessica; Dunbar, Nancy; Fairchild, Jan; Funari, Mariana F. A.; Heath, Karen E.; Jorge, Alexander A. L.; Kurtzman, Tracey; LaFranchi, Stephen; Lalani, Seema; Lebl, Jan; Lin, Yuezhen; Los, Evan; Newbern, Dorothee; Nowak, Catherine; Olson, Micah; Popovic, Jadranka; Průhová, Štěpánka; Elblova, Lenka; Quintos, Jose Bernardo; Segerlund, Emma; Sentchordi, Lucia; Shinawi, Marwan; Stattin, Eva-Lena; Swartz, Jonathan; del Angel, Ariadna González; Cuéllar, Sinhué Diaz; Hosono, Hidekazu; Sanchez-Lara, Pedro A.; Hwa, Vivian; Baron, Jeffrey; Dauber, Andrew

2017-01-01

Context: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation. Objective: We sought to characterize the phenotypic spectrum and response to growth-promoting therapies. Patients and Methods: One hundred three individuals (57 females, 46 males) from 20 families with autosomal dominant short stature and heterozygous ACAN mutations were identified and confirmed using whole-exome sequencing, targeted next-generation sequencing, and/or Sanger sequencing. Clinical information was collected from the medical records. Results: Identified ACAN variants showed perfect cosegregation with phenotype. Adult individuals had mildly disproportionate short stature [median height, −2.8 standard deviation score (SDS); range, −5.9 to −0.9] and a history of early growth cessation. The condition was frequently associated with early-onset osteoarthritis (12 families) and intervertebral disc disease (9 families). No apparent genotype–phenotype correlation was found between the type of ACAN mutation and the presence of joint complaints. Childhood height was less affected (median height, −2.0 SDS; range, −4.2 to −0.6). Most children with ACAN mutations had advanced bone age (bone age − chronologic age; median, +1.3 years; range, +0.0 to +3.7 years). Nineteen individuals had received growth hormone therapy with some evidence of increased growth velocity. Conclusions: Heterozygous ACAN mutations result in a phenotypic spectrum ranging from mild and proportionate short stature to a mild skeletal dysplasia with disproportionate short stature and brachydactyly. Many affected individuals developed early-onset osteoarthritis and degenerative disc disease, suggesting dysfunction of the articular cartilage and intervertebral disc cartilage. Additional studies are needed to determine the optimal treatment strategy for these patients. PMID:27870580

[GHBP, IGF-1 and IGFBP-3 serum levels in familial short-statured and normal-statured children].

PubMed

del Valle Núñez, Cristóbal Jorge; López-Siguero, Juan Pedro; López-Canti, Luis Fernando; Lechuga Campoy, José Luis; Espigares Martín, Rosa; Martínez-Aedo Ollero, María José

2004-10-09

Growth hormone binding protein (GHBP), insuline-like growth factor 1 (IGF-1) and insuline-like growth factor binding protein 3 (IGFBP-3) serum concentrations were studied in familial short-statured patients (FSS) and age-matched normal-statured subjects. The aim of the study was to ascertain whether differences in growth factors concentrations between groups could be shown and whether they may contribute to explaining the different patterns of growth in both groups. Serum samples of 38 FSS patients (20 boys) and 31 normal-statured subjects (15 boys) in Tanner I stage (prepubertal), were analysed in a central laboratory. All auxological parameters (height, growth velocity, target height, body mass index (BMI) and biochemical parameters (IGF-1 and IGFBP-3) were standardised for age and sex-matched subjects. GHBP values were expressed as percentage of specific binding. The studied populations were similar and no statistically-significant differences in chronological age, bone age and BMI were found. Height, growth velocity and target height were significantly lower in FSS patients compared with normal subjects (p < 0.0001). IGF-1, IGFBP-3 and GHBP concentrations were significantly lower in the FSS group (p < 0.01). Correlations were found between IGF-1 and IGFBP-3 (r = 0.56; p = 0.0004) and between IGF-1 and GHBP (r = 0.34; p = 0.03) in the FSS group. However, in the normal-statured group only BMI and GHBP were correlated (r = 0.5; p = 0.02). These results strongly support the importance of the GH/IGF-1 functional axis in the pattern of growth and probably contribute to understanding of the pathophysiologic basis of the auxological differences found between groups.

[Measurements of location of body fat distribution: an assessment of colinearity with body mass, adiposity and stature in female adolescents].

PubMed

Pereira, Patrícia Feliciano; Serrano, Hiara Miguel Stanciola; Carvalho, Gisele Queiroz; Ribeiro, Sônia Machado Rocha; Peluzio, Maria do Carmo Gouveia; Franceschini, Sylvia do Carmo Castro; Priore, Silvia Eloiza

2015-01-01

To verify the correlation between body fat location measurements with the body mass index (BMI), percentage of body fat (%BF) and stature, according to the nutritional status in female adolescents. A controlled cross sectional study was carried out with 113 adolescents (G1: 38 eutrophic, but with high body fat level, G2: 40 eutrophic and G3: 35 overweight) from public schools in Viçosa-MG, Brazil. The following measures have been assessed: weight, stature, waist circumference (WC), umbilical circumference (UC), hip circumference (HC), thigh circumference, waist-to-hip ratio (WHR), waist-to-stature ratio (WSR), waist-to-thigh ratio (WTR), conicity index (CI), sagittal abdominal diameter (SAD), coronal diameter (CD), central skinfolds (CS) and peripheral (PS). The %BF was assessed by tetrapolar electric bioimpedance. The increase of central fat, represented by WC, UC, WSR, SAD, CD and CS, and the increase of peripheral fat indicated by HC and thigh were proportional to the increase of BMI and %BF. WC and especially the UC showed the strongest correlations with adiposity. Weak correlation between WHR, WTR, CI and CS/PS with adiposity were observed. The stature showed correlation with almost all the fat location measures, being regular or weak with waist. The results indicate colinearity between body mass and total adiposity with central and peripheral adipose tissue. We recommend the use of UC for assessing nutritional status of adolescents, because it showed the highest ability to predict adiposity in each group, and also presented regular or weak correlation with stature. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

PubMed Central

Maksimova, Nadezda; Hara, Kenju; Nikolaeva, Irina; Chun-Feng, Tan; Usui, Tomoaki; Takagi, Mineo; Nishihira, Yasushi; Miyashita, Akinori; Fujiwara, Hiroshi; Oyama, Tokuhide; Nogovicina, Anna; Sukhomyasova, Aitalina; Potapova, Svetlana; Kuwano, Ryozo; Takahashi, Hitoshi; Nishizawa, Masatoyo

2010-01-01

Background Hereditary short stature syndromes are clinically and genetically heterogeneous disorders and the cause have not been fully identified. Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have a high prevalence of hereditary short stature syndrome including 3-M syndrome. A novel short stature syndrome in Yakuts is reported here, which is characterised by autosomal recessive inheritance, severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, Pelger-Huët anomaly of leucocytes, and optic atrophy with loss of visual acuity and colour vision. This new syndrome is designated as short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome. Aims To identify a causative gene for SOPH syndrome. Methods Genomewide homozygosity mapping was conducted in 33 patients in 30 families. Results The disease locus was mapped to the 1.1 Mb region on chromosome 2p24.3, including the neuroblastoma amplified sequence (NBAS) gene. Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state. None of the 203 normal Yakuts individuals had this substitution in the homozygous state. Immunohistochemical analysis revealed that the NBAS protein is well expressed in retinal ganglion cells, epidermal skin cells, and leucocyte cytoplasm in controls as well as a patient with SOPH syndrome. Conclusion These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huët anomaly. PMID:20577004

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.

PubMed

Maksimova, Nadezda; Hara, Kenju; Nikolaeva, Irina; Chun-Feng, Tan; Usui, Tomoaki; Takagi, Mineo; Nishihira, Yasushi; Miyashita, Akinori; Fujiwara, Hiroshi; Oyama, Tokuhide; Nogovicina, Anna; Sukhomyasova, Aitalina; Potapova, Svetlana; Kuwano, Ryozo; Takahashi, Hitoshi; Nishizawa, Masatoyo; Onodera, Osamu

2010-08-01

Hereditary short stature syndromes are clinically and genetically heterogeneous disorders and the cause have not been fully identified. Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have a high prevalence of hereditary short stature syndrome including 3-M syndrome. A novel short stature syndrome in Yakuts is reported here, which is characterised by autosomal recessive inheritance, severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, Pelger-Huët anomaly of leucocytes, and optic atrophy with loss of visual acuity and colour vision. This new syndrome is designated as short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome. To identify a causative gene for SOPH syndrome. Genomewide homozygosity mapping was conducted in 33 patients in 30 families. The disease locus was mapped to the 1.1 Mb region on chromosome 2p24.3, including the neuroblastoma amplified sequence (NBAS) gene. Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state. None of the 203 normal Yakuts individuals had this substitution in the homozygous state. Immunohistochemical analysis revealed that the NBAS protein is well expressed in retinal ganglion cells, epidermal skin cells, and leucocyte cytoplasm in controls as well as a patient with SOPH syndrome. These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huët anomaly.

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

PubMed

Freire, Bruna L; Homma, Thais K; Funari, Mariana F A; Lerario, Antônio M; Leal, Aline M; Velloso, Elvira D R P; Malaquias, Alexsandra C; Jorge, Alexander A L

2018-03-01

Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features. Her parents were third degree cousins. Routine screening tests for short stature was normal. We conducted whole exome sequencing (WES) of the proband and used an analysis pipeline to identify rare nonsynonymous genetic variants that cause short stature. We identified a homozygous loss-of-function BRCA1 mutation (c.2709T > A; p. Cys903*), which promotes the loss of critical domains of the protein. Cytogenetic study with DEB showed an increased chromosomal breakage. We screened heterozygous parents of the index case for cancer and we detected, in her mother, a metastatic adenocarcinoma in an axillar lymph node with probable primary site in the breast. It is possible to consolidate the FA-like phenotype associated with biallelic loss-of-function BRCA1, characterized by microcephaly, short stature, developmental delay, dysmorphic face features and cancer predisposition. In our case, the WES allowed to establish the genetic cause of short stature in the context of a chromosome instability syndrome. An identification of BRCA1 mutations in our patient allowed precise genetic counseling and also triggered cancer screening for the patient and her family members. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Height-reducing variants and selection for short stature in Sardinia

PubMed Central

Mulas, Antonella; Steri, Maristella; Busonero, Fabio; Marcus, Joseph H.; Marongiu, Michele; Maschio, Andrea; Ortega Del Vecchyo, Diego; Floris, Matteo; Meloni, Antonella; Delitala, Alessandro; Concas, Maria Pina; Murgia, Federico; Biino, Ginevra; Vaccargiu, Simona; Nagaraja, Ramaiah; Lohmueller, Kirk E.; Timpson, Nicholas J.; Soranzo, Nicole; Tachmazidou, Ioanna; Dedoussis, George; Zeggini, Eleftheria; Uzzau, Sergio; Jones, Chris; Lyons, Robert; Angius, Andrea; Abecasis, Gonçalo R.; Novembre, John; Schlessinger, David; Cucca, Francesco

2015-01-01

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identified two variants with large effects. One is a stop codon in the GHR gene, relatively frequent in Sardinia (0.87% vs <0.01% elsewhere), which in homozygosity causes the short stature Laron syndrome. We find that it reduces height in heterozygotes by an average of 4.2 cm (−0.64 s.d). The other variant, in the imprinted KCNQ1 gene (MAF = 7.7% vs <1% elsewhere) reduces height by an average of 1.83 cm (−0.31 s.d.) when maternally inherited. Additionally, polygenic scores indicate that known height-decreasing alleles are at systematically higher frequency in Sardinians than would be expected by genetic drift. The findings are consistent with selection toward shorter stature in Sardinia and a suggestive human example of the proposed “island effect” reducing the size of large mammals. PMID:26366551

Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets

PubMed Central

Borghi, Mauro M.S.; Coates, Veronica; Omar, Hatim A.

2005-01-01

This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS and by direct research within the last 15 years using the keywords rickets, familial hypophosphatemia, vitamin D deficiency, stature growth, childhood, and adolescence. Article selection was done by comparing the evaluation of the growth in patients with familial hypophosphatemic rickets, including the variables that might affect them, for possible future therapeutic proposals. It is concluded that the most significant fact in the treatment of familial hypophosphatemic rickets in infancy was the magnitude of the final stature. The use of growth hormone can be helpful in these patients. However, research reporting treatments with the use of the growth hormone for rickets are controversial. The majority of the authors agree that treatment using vitamin D and phosphate enables some statural growth in cases of early diagnosis, reflecting a better prognosis. PMID:16244755

Reanalysis of the Trotter Tibia Quandary and its Continued Effect on Stature Estimation of Past-Conflict Service Members.

PubMed

Lynch, Jeffrey James; Brown, Carrie; Palmiotto, Andrea; Maijanen, Heli; Damann, Franklin

2018-04-23

Forensic casework from past-conflicts relies on the corrected historical Trotter data for stature estimation in Fordisc. For roughly 10 years', stature estimation using this data has produced point estimates for the tibia that are on average 1.25 inches less than the other long bones. This issue was identified after applying the equations derived from Fordisc to the USS Oklahoma commingled assemblage. Reevaluation of Fordisc revealed that a correction factor of 20 mm, instead of 10 mm, was mistakenly applied to the Trotter tibia data. Historical forensic anthropology reports written at the Defense POW/MIA Accounting Agency were utilized to identify that the overcorrection is isolated to Fordisc 3 with an error rate of 5% of known antemortem statures falling outside of the prediction intervals that relied on the tibia. Further evaluation of the Oklahoma sample indicates the 10 mm correction is still producing point estimates less than the other long bones. © 2018 American Academy of Forensic Sciences.

Growth hormone deficiency in a patient with mitochondrial disease.

PubMed

Rocha, Vera; Rocha, Dalila; Santos, Helena; Sales Marques, Jorge

2015-09-01

Mitochondrial respiratory chain (MRC) disorders, defined as primary diseases of the oxidative phosphorylation system, are a protean group of metabolic disorders, difficult to diagnose and classify. The diagnosis is complex and requires the integration of information obtained by clinical, laboratory testing, imaging and muscle biopsy. They may be associated with endocrine disorders, including hypothyroidism, diabetes mellitus, hyperinsulinemia and growth hormone (GH) deficiency. We describe a case of five years old male with polymalformative syndrome with a systemic involvement. At 6 months of age, he was sent to metabolic consultation because of facial dysmorphy and short stature. During the investigation it was diagnosed at the boy a growth hormone deficiency and because of his multisystemic involvement, muscle biopsy was carried out and showed reduced activity of complex II (38%) of the mitochondrial respiratory chain. Currently, the boy is under GH therapy with growth in the 5th percentile and coenzime Q10. Mitochondrial biology is one of the fastest growing areas in genetics and medicine. Disturbances in mitochondrial metabolism are now known to play a role not only in rare childhood diseases, but also in many common diseases of aging. In mitochondrial disorders, short stature is a common symptom, but its underlying lesion, growth hormone deficiency, is rarely investigated.

The impact of the use of antiepileptic drugs on the growth of children

PubMed Central

2013-01-01

Background This study investigated whether long-term treatment with antiepileptic drugs (AEDs) had negative effects on statural growth and serum calcium levels in children with epilepsy in Taiwan. Methods Children with epilepsy treated with one prescription of AEDs (monotherapy) for at least 1 year were selected. The AEDs included valproic acid (VPA; Deparkin) in 27 children (11 boys and 16 girls) aged 4-18 years, oxcarbazepine (Trileptal) in 30 children (15 boys and 15 girls) aged 5-18 years, topiramate (Topamax) in 19 children (10 boys and 9 girls) aged 6-18 years, and lamotrigine (Lamicta) in eight children (5 boys and 3 girls) aged 5-13 years. Patients with a history of febrile convulsions were selected as the controls. Results One year of VPA treatment significantly impaired the statural growth of pediatric patients with epilepsy (p < 0.005) compared with the control group. The underlying mechanism may have been due to the direct effect of VPA on the proliferation of growth plate chondrocytes rather than alterations of serum calcium. Conclusions These results raise serious concerns about the growth of pediatric epilepsy patients who use AEDs, and potentially the need to closely monitor growth in children with epilepsy and adolescents under AED treatment, especially VPA. PMID:24354857

Relationship between linear type and fertility traits in Nguni cows.

PubMed

Zindove, T J; Chimonyo, M; Nephawe, K A

2015-06-01

The objective of the study was to assess the dimensionality of seven linear traits (body condition score, body stature, body length, heart girth, navel height, body depth and flank circumference) in Nguni cows using factor analysis and indicate the relationship between the extracted latent variables and calving interval (CI) and age at first calving (AFC). The traits were measured between December 2012 and November 2013 on 1559 Nguni cows kept under thornveld, succulent karoo, grassland and bushveld vegetation types. Low partial correlations (-0.04 to 0.51), high Kaiser statistic for measure of sampling adequacy scores and significance of the Bartlett sphericity test (P1. Factor 1 included body condition score, body depth, flank circumference and heart girth and represented body capacity of cows. Factor 2 included body length, body stature and navel height and represented frame size of cows. CI and AFC decreased linearly with increase of factor 1. There was a quadratic increase in AFC as factor 2 increased (P<0.05). It was concluded that the linear type traits under study can be grouped into two distinct factors, one linked to body capacity and the other to the frame size of the cows. Small-framed cows with large body capacities have shorter CI and AFC.

Growth and ovarian function in girls with 48,XXXX karyotype--patient report and review of the literature.

PubMed

Rooman, Raoul P A; Van Driessche, Karen; Du Caju, Marc V L

2002-01-01

The loss of an X chromosome results in short stature and often in primary ovarian failure, but the effect of extra X chromosomes is less clear, especially in 48,XXXX women. We report a girl with a 48,XXXX karyotype with tall stature (181.8 cm), primary ovarian failure and low DHEAS levels. A review of the literature shows that, apart from an intellectual deficit, the phenotype is very heterogeneous. The few data that are available in the literature indicate that tall stature and primary ovarian failure are not essential characteristics of the 48,XXXX phenotype.

76 FR 61350 - DOE Response to Defense Nuclear Facilities Safety Board's Request for Clarification on...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-10-04

...., that the independence, stature, and leadership experience of the implementation team that will be... technical competence, objectivity, experience in safety management, executive leadership, and a clear... the power of perceptions fully into account. 4. The independence, public stature, and leadership...

Proceedings of the Annual Military Librarians’ Workshop (21st): Resource Sharing, 27-29 September 1977

DTIC Science & Technology

1977-09-29

means of which the librarians may develop or improve individual proficiency, service and stature in librarianship . To investigate techniques by which...librarians as adninistrators and managers. DISCUSSION: The group discussed improving individual proficiency, service and stature in librarianship centered

Extrauterine growth restriction was associated with short stature and thinness in very low birth weight infants at around six years of age.

PubMed

Takayanagi, Toshimitsu; Shichijo, Akinori; Egashira, Masakazu; Egashira, Tomoko; Mizukami, Tomoko

2018-06-04

The effect that intrauterine or extrauterine growth restriction (EUGR) had on the build of very low birth weight (VLBW) infants was investigated before Japanese children started school. Between 2005 and 2017 the National Hospital Organization, Saga, Japan, carried out pre-school checks on 322 children born with a VLBW at approximately six years of age. Growth restriction was defined as being born small for gestational age (SGA) or EUGR if they were born at term. The prevalence of short stature, thinness and obesity were determined and associations between SGA or EUGR and subsequent body build were investigated. In this study, 77/322 (23.9%) infants were SGA and 153/322 (47.5%) were EUGR: 14/77 (18.2%) SGA infants caught up in growth to the 169 non EUGR infants, while 90/245 (36.7%) appropriate for gestational age infants subsequently demonstrated EUGR. There were 38 (11.8%) short stature, 38 (11.8%) thin and six (1.9%) obese subjects in the total cohort and growth hormone deficiencies in nine (2.8%) cases. We found significant associations between EUGR and both short stature and thinness. EUGR was significantly associated with short stature and thinness in VLBW infants at around six years, irrespective of the degree of SGA. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Thermodynamic stability of biomolecules and evolution.

PubMed

Chakravarty, Ashim K

2017-08-01

The thermodynamic stability of biomolecules in the perspective of evolution is a complex issue and needs discussion. Intra molecular bonds maintain the structure and the state of internal energy (E) of a biomolecule at "local minima". In this communication, possibility of loss in internal energy level of a biomolecule through the changes in the bonds has been discussed, that might earn more thermodynamic stability for the molecule. In the process variations in structure and functions of the molecule could occur. Thus, E of a biomolecule is likely to have energy stature for minimization. Such change in energy status is an intrinsic factor for evolving biomolecules buying more stability and generating variations in the structure and function of DNA molecules undergoing natural selection. Thus, the variations might very well contribute towards the process of evolution. A brief discussion on conserved sequence in the light of proposition in this communication has been made at the end. Extension of the idea may resolve certain standing problems in evolution, such as maintenance of conserved sequences in genome of diverse species, pre- versus post adaptive mutations, 'orthogenesis', etc. Copyright © 2017 Elsevier Ltd. All rights reserved.

Risk factors for child under-nutrition with a human rights edge in rural villages of North Wollo, Ethiopia.

PubMed

Haidar, J; Abate, G; Kogi-Makau, W; Sorensen, P

2005-12-01

To identify the factors associated with childhood under-nutrition in North Wollo, Ethiopia. A cross-sectional study. Four purposefully selected rural villages (kebeles) in North Wollo zone of the Amhara Region, Ethiopia. One hundred-forty four sampled households with under five year old children (n=200) comprising of 96 male-headed, 24 female-headed and 24 landless with children aged between six and 59 months. Determinations of anthropometric measurements and various socio-economic factors. The overall prevalence rate of under nutrition as determined by stunting, underweight and wasting was 44.5%, 25.0% and 9.0% respectively with more preponderance among the toddlers. The proportion of under nutrition was higher in female-headed households. Shortage of farmland, lack of irrigation, dispossession of livestock, shortage of non-farm employment options, parental illiteracy, high number of children, water inadequacy, food taboos and wrong eating habits of families, poor child feeding practices, deprivation of health nutrition education as well as maternal attributes such as young motherhood, low body mass index and short stature of mothers influenced the nutritional status of the children. The prominent risk factors for undernutrition among children were dispossession of livestock, child food taboos and wrong eating habits of families, deprivation of health/nutrition education, short stature and early marriage of mothers. This study led to the conclusion that improvement of household resources through promotion of irrigation and initiation of income generating livelihood options can reverse the nutrition situation for better. Health and nutrition education focusing on appropriate child feeding, eradication of harmful traditional practices such as early marriage and inequitable intra-household food distribution, encouragement of family planning and nutrition interventions including food diversification is recommended.

Public Image and the University. ERIC Digest.

ERIC Educational Resources Information Center

Alfred, Richard L.; Weissman, Julie

A discussion of institutional stature in higher education focuses on its development and determination and strategies for its enhancement. The central theme is that although colleges and universities are affected by trends in the external environment, they can plan, respond, act, and organize themselves to improve their stature. The report…

Plasma growth hormone, insulin, and glucagon responses to arginine infusion in children and adolescents with idiopathic short stature, isolated growth hormone deficiency, panhypopituitarism, and anorexia nervosa.

PubMed

Sizonenko, P C; Rabinovitch, A; Schneider, P; Paunier, L; Wollheim, C B; Zahnd, G

1975-09-01

The effects of intravenous infusion of arginine (20 g/m2) after an overnight fast on plasma immunoreactive growth hormone (GH), insulin (IRI), and glucagon (IRG), and blood glucose were examined in five groups of children and adolescents: 10 normal individuals, 18 with idiopathic short stature, 6 with isolated growth hormone deficiency, 8 with panhypopituitarism, and 6 with anorexia nervosa. The mean fasting plasma GH concentration was significantly elevated in the group with anorexia nervosa (P less than 0.05), and similar to the value for the normal group in all other groups. After arginine infusion, four- to sixfold increases of plasma GH were observed in the normal children, and similar increases were seen in those with idiopathic short stature as well as in those with anorexia nervosa; whereas, in the children with isolated growth hormone deficiency or panhypopituitarism, there was no significant increase in plasma GH. Fasting blood glucose concentrations were significantly lower than normal in subjects with isolated growth hormone deficiency (P less than 0.05), panhypopituitarism (P less than 0.001), and anorexia nervosa (P less than 0.001), whereas fasting plasma IRI and IRG concentrations were similar to the values in the normal group. Plasma IRI increased eightfold at the end of the 30-min arginine infusion in the normal subjects; the increase was slightly but not significantly less in those with idiopathic short stature, and significantly less in those with isolated growth hormone deficiency (P less than 0.05), panhypopituitarism (P less than 0.001), and anorexia nervosa (P less than 0.05). Arginine infusion resulted in two- to threefold increases of plasma IRG in the normal group, and similar increases were observed in all of the other groups tested. These results suggest that whereas pancreatic beta cell responsiveness may be deficient in children and adolescents with isolated growth hormone deficiency, panhypopituitarism, or anorexia nervosa, pancreatic alpha cell responsiveness, to arginine at least, appears to be intact under these conditions.

Primary spontaneous pneumothorax in menstruating females has high recurrence

PubMed Central

Mehta, Christopher K.; Stanifer, Bryan P.; Fore-Kosterski, Susan; Gillespie, Colin; Yeldandi, Anjana; Meyerson, Shari; Odell, David D.; DeCamp, Malcolm M.; Bharat, Ankit

2016-01-01

Background Primary spontaneous pneumothorax (PSP) is treated based on studies that have predominantly consisted of tall male subjects. Here we determined recurrence of PSP in average-statured menstruating women and studied prevalence of catamenial pneumothorax (CP) in this population. Methods Males and menstruating females, aged 18-55 years, without underlying lung disease or substance abuse were retrospectively studied between 2009-2015. A chest pathologist reviewed all specimens for thoracic endometriosis. Kaplan-Meier curves were constructed to determine recurrence. Results The median age of females (n=33) and males (n=183) was 33.4 and 31.6 years, respectively. In females, nine (27%) had left-sided and 24 (73%) had right-sided PSP, treated with tube thoracostomy. Recurrence occurred in 21 (64%) females with median follow up of 14 months and was treated with thoracoscopic pleurodesis. Right PSP had higher recurrence (70%) compared to left (56%, p=0.02). Four females (12%) presented with recurrent tension pneumothorax within six months. Eight (24%) patients had PSP within 72 hours of menses, meeting clinical criteria of CP. All these were placed on hormonal suppression after initial episode but went on to develop recurrence that was treated with pleurodesis. However, classic endometrial glands were not found in any biopsy specimens obtained during the thoracoscopy. In contrast to female subjects, only 8 (4.4%) average-statured males had recurrence (p<0.001) with a median follow up of 16 months. Conclusions PSP in healthy average-statured menstruating women has high recurrence compared to male counterparts. CP is a clinical diagnosis and often recurs despite hormonal suppression therapy. PMID:27345097

Disorders of childhood growth and development: failure to thrive versus short stature.

PubMed

Grissom, Maureen

2013-07-01

Failure to thrive (FTT) describes retarded growth in height and weight, whereas short stature (SS) involves comparison of a child or adolescent's height to that of a reference group or to his or her own height across time. To identify either condition in infants, children, and adolescents, the family physician should focus on accurate measurement of length/height and weight as well as careful plotting and assessment of the rate of linear growth and weight gain based on World Health Organization standards (from birth to 2 years) and Centers for Disease Control and Prevention charts (from age 2 years). Identification of the etiologies of FTT and SS is complex, requiring consideration of such factors as birth weight, prematurity, and familial height. FTT can result from inadequate caloric intake (eg, caused by difficulties with nursing, limited food availability, or incorrect formula preparation), inadequate caloric absorption (eg, resulting from metabolic, gastrointestinal, or other medical conditions), or excessive caloric expenditure/ineffective utilization (eg, due to hyperthyroidism, diabetes, pulmonary or cardiac conditions). Short stature can be due to a primary growth disorder, such as bone disease or chromosomal syndrome; a secondary factor, such as a chronic medical or endocrine disorder; or an undetermined etiology. The management of FTT and SS requires attention to a combination of medical and behavioral/social issues (eg, treating underlying conditions, assisting with the feeding process, addressing stress and social functioning), and often requires a multidisciplinary approach. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.

PubMed

Reish, Orit; Huber, Céline; Altarescu, Gheona; Chapman-Shimshoni, Daphne; Levy-Lahad, Ephrat; Renbaum, Paul; Mashevich, Maya; Munnich, Arnold; Cormier-Daire, Valérie

2010-09-01

Mutations or deletions in the SHOX gene cause Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) when present in heterozygous or homozygous form, respectively. A new class of enhancer deletions was identified 30-250 kb downstream of SHOX. We identified a female patient with marked short stature, mosaic for monosomy X in 31% of her lymphocytes, and findings consistent with LWD. Additional molecular studies demonstrated segregation of 17 polymorphic markers flanking and including the SHOX locus, spanning 328 kb of pseudoautosomal region 1 (PAR1) region. A deletion up to 10 kb residing 197 kb downstream of SHOX gene was detected, which was germinally transmitted from her clinically unaffected father. This was associated with post-zygotic mosaic loss of the normal maternal X-chromosome, evidenced by fluorescent fragment analysis. Since most patients with LMD with deletions downstream of SHOX gene also have SHOX mutations in trans, it may suggest these deletions are associated with a milder phenotype. Further studies are required to elucidate the role of the former region in disease etiology. Mutations should be sought in clinically non-affected family members because of the variable expressivity in hemizygous carriers, and cytogenetic evaluation should be considered to detect possible X-chromosome rearrangements underlying the haploinsufficiency for the PAR1 when deletion is detected by molecular analysis. Similarly, when LWD and marked short stature occur in a patient with mosaic Turner syndrome, the possibility of mutations in SHOX and the downstream of SHOX gene should be considered. Copyright 2010 Wiley-Liss, Inc.

Determinants of height and biological inequality in Mediterranean Spain, 1859-1967.

PubMed

Ayuda, María-Isabel; Puche-Gil, Javier

2014-12-01

This article analyses not only the determinants of the height of Spain's male populations between 1859 and 1960 but also the influence that social inequality had upon biological well-being. The height data of 82,039 conscripts constitute the principal source for this analysis. The study area comprises the current Valencian region, located in central Mediterranean Spain. During the period under study, the average height of conscripts increased by 7.5cm, while the coefficient of variation decreased by 0.6 between the 1870s and 1930 indicating that height inequality declined, although it increased by 0.2 among the cohorts born during the period of Francoist regime. Our results show that, in the long run, the height and biological well-being of the populations conscripted in Mediterranean Spain were determined by socioeconomic status and environmental contexts: that there was a close correlation among education, occupation, income, and stature. Literate conscripts were always taller than illiterate ones (by nearly 1cm), and agricultural workers, with fewer economic resources, were significantly shorter (by 3.6cm) than highly qualified non-manual workers. Copyright © 2014 Elsevier B.V. All rights reserved.

A subject with abnormally short stature from Imperial Rome.

PubMed

Ottini, L; Minozzi, S; Pantano, W B; Maucci, C; Gazzaniga, V; Angeletti, L R; Catalano, P; Mariani-Costantini, R

2001-01-01

In spite of the rich iconographic and literary documentation from ancient sources, the skeletal evidence concerning individuals of abnormally short stature in the Greco-Roman world is scarce. The necropolis of Viale della Serenissima/Via Basiliano in Rome, mostly referable to the II century AD, recently yielded the skeleton of an individual characterized by proportionate short stature, gracile features suggesting female gender, and delayed epiphysial closure, associated with full maturation of the permanent dentition. These characteristics could be compatible with the phenotype associated with female gonadal dysgenesis. The skeletal individual described here, although poorly preserved, represents the first evidence of a paleopathologic condition affecting skeletal growth documented for the population of ancient Rome.

A physiological adaptation to undernutrition.

PubMed

Balam, G; Gurri, F

1994-01-01

A total of 432 children under the age of 10 years were measured for height and weight, and the morbidity and mortality indices were studied in six counties of the maize region of the state of Yucatán, Mexico. Undernutrition, because of its relationship to morbidity and mortality, was considered an important selection factor operating between the ages of 6 and 24 months. It was also observed that short stature was an adaptive response to the first years of undernutrition, that allowed children to maintain an adequate body weight under conditions of nutritional stress during the first 10 years of life.

Primary succession on a Hawaiian dryland chronosequence

Treesearch

Kealohanuiopuna M. Kinney; Gregory P. Asner; Susan Cordell; Oliver A. Chadwick; Katherine Heckman; Sara Hotchkiss; Marjeta Jeraj; Ty Kennedy-Bowdoin; David E. Knapp

2015-01-01

We used measurements from airborne imaging spectroscopy and LiDAR to quantify the biophysical structure and composition of vegetation on a dryland substrate age gradient in Hawaii. Both vertical stature and species composition changed during primary succession, and reveal a progressive increase in vertical stature on younger substrates followed by a collapse on...

Effects of growth hormone treatment on growth in children with juvenile idiopathic arthritis.

PubMed

Simon, D; Bechtold, S

2009-11-01

Several therapeutic trials have been conducted over the past decade to evaluate the role of exogenous growth hormone (GH) as a means of correcting the growth deficiency seen in children with juvenile idiopathic arthritis (JIA). Early studies showed the benefit of GH treatment with respect to final height in patients with JIA. Of 13 patients receiving GH, 84% (11 patients) achieved a final height within their target range compared with only 22% (4 of 18 patients) of untreated patients. There are, however, factors that may limit the statural gains achieved with GH therapy including severe inflammation, severe statural deficiency at GH therapy initiation, long disease duration and delayed puberty. Data on the efficacy of GH replacement therapy in children with JIA and factors that influence the statural growth response will be reviewed. Results from therapeutic trials show that treatment with GH can decrease the statural deficit that occurs during the active phase of JIA, producing an adult height that is close to the genetically determined target height. Copyright 2009 S. Karger AG, Basel.

[Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome].

PubMed

Chang, Guo-ying; Chen, Shao-ke; Gu, Xue-fan; Gong, Zhu-wen; Zhang, Qi-gang

2013-12-01

To analyze clinical manifestations and gene mutations in a child with severe short stature, explore its molecular mechanism and further clarify the diagnostic procedure for short stature. We observed clinical characteristics of a patient with short stature and did diagnostic examinations, assessed the function of GH-IGF-1 axis, and surveyed its family members.Genomic DNA was extracted from peripheral blood, GHR, IGFALS, STAT5b and GH1 gene were amplified by PCR for sequencing, including exons and splicing areas. The patient presented symmetrical short stature (height -8.2 SDS) and facial features, and other congenital abnormalities.It displayed non-growth hormone deficiency. The baseline value of GH was 21 µg/L, and the peak was 57.9 µg/L. The value of IGF-1 was less than 25 µg/L, and the IGFBP-3 less than 50 µg/L. And IGF-1 generation test showed no response. There was no similar patients in the family members.Sequencing of GHR in the patient revealed a homozygous point mutation (c.Ivs6+1G>A), and her father and mother had the same heterozygous mutation. The same mutation was not identified for her sister.No other candidate gene was found. As the result of combined clinical characteristics and lab examinations, as well as gene detection, the case was diagnosed with Laron syndrome and GHR gene mutation is the molecular mechanism.We should explicit the etiological diagnosis for short stature, and avoid missed diagnosis and misdiagnosis.

[Body proportions of healthy and short stature adolescent girls].

PubMed

Milde, Katarzyna; Tomaszewski, Paweł; Majcher, Anna; Pyrżak, Beata; Stupnicki, Romuald

2011-01-01

Regularly conducted assessment of body proportions is of importance as early detection of possible growth disorders and immediate prevention may allow gathering an optimum of child's genetically conditioned level of development. To assess body proportions of adolescent girls, healthy or with growth deficiency. Three groups were studied: 104 healthy, short-statured girls (body height below the 10th percentile), 84 girls with Turner's syndrome (ZT) and 263 healthy girls of normal stature (between percentiles 25 and 75), all aged 11-15 years. The following measurements were conducted according to common anthropometric standards: body height, sitting body height, shoulder width, upper extremity length and lower extremity length - the last one was computed as the difference between standing and sitting body heights. All measurements were converted to logarithms and allometric linear regressions vs log body height were computed. The Turner girls proved to have allometrically shorter legs (p<0.001) and wider shoulders (p<0.001) compared with both groups of healthy girls, and longer upper extremities (p<0.001) compared with the girls of normal stature. Healthy, short-statured girls had longer lower extremities (p<0.001) as compared to other groups; they also had wider shoulders (p<0.001) and longer upper extremities (p<0.001) compared to healthy girls of normal height. Allometric relations of anthropometric measurements enable a deeper insight into the body proportions, especially in the growth period. The presented discrimination of Turner girls may serve as a screening test, and recommendation for further clinical treatment.

Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup.

PubMed

Matsumoto, Masaaki; Awano, Hiroyuki; Lee, Tomoko; Takeshima, Yasuhiro; Matsuo, Masafumi; Iijima, Kazumoto

2017-11-01

Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. Short stature has been reported as a feature of DMD in the Western hemisphere, but not yet confirmed in Orientals. Height of young BMD has not been fully characterized. Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS). The mean height SDS of DMD was -1.08 SD that was significantly smaller than normal (p < 0.001), indicating short stature of Japanese DMD. Furthermore, the mean height SDS of BMD was -0.27 SD, suggesting shorter stature than normal. Remarkably, the mean height SDS of DMD was significantly smaller than that of BMD (p < 0.0001). In DMD higher incidence of short stature (height SDS < -2.5 SD) was observed in Dp71 subgroup having mutations in dystrophin exons 63-79 than others having mutations in exons 1-62 (27.8% vs. 7.5%, p = 0.017). These suggested that height is influenced by dystrophin in not only DMD but also BMD and that dystrophin Dp71 has a role in height regulation. Copyright © 2017 Elsevier B.V. All rights reserved.

The current use of estrogens for growth-suppressant therapy in adolescent girls.

PubMed

Barnard, Neal D; Scialli, Anthony R; Bobela, Suzanne

2002-02-01

To assess the current prevalence of growth-suppressant therapy using oral estrogens for tall adolescent girls among U.S. pediatric endocrinologists. A questionnaire was mailed to pediatric endocrinologists practicing in the United States, asking how many patients each clinician had recently treated for tall stature using oral estrogens, whether he/she continued to offer such treatment, reasons for offering or declining to offer it, criteria for initiating and terminating treatment, choice of estrogen, and typical doses, durations, and effects. Of 411 respondents, 92 (22%) reported having treated 1-5 girls for tall stature during the preceding five years. Only 4 (1%) had treated more than 5 cases during this period. Growth-suppression treatment was currently offered by 137 respondents (33.3%). Reasons for doing so included parents' and patients' concerns about stature and the adverse social effects of unusually tall stature. Reasons for not offering such treatments were that its long-term risks are unknown, that tall stature is not a disease, and a lack of referrals. Few clinicians initiated treatment if predicted mature height was below 183 cm. Treatment was typically terminated based on evidence of epiphyseal fusion, usually within less than two years, although extended treatments were common. Frequently reported adverse effects included weight gain, nausea/vomiting, areolar or nipple pigmentation, headache, and irregular menses. Although treatment is less commonly initiated than in the past, many pediatric endocrinologists continue to offer oral estrogens to suppress growth for tall adolescent girls.

The effect of age and body composition on body mass estimation of males using the stature/bi-iliac method.

PubMed

Junno, Juho-Antti; Niskanen, Markku; Maijanen, Heli; Holt, Brigitte; Sladek, Vladimir; Niinimäki, Sirpa; Berner, Margit

2018-02-01

The stature/bi-iliac breadth method provides reasonably precise, skeletal frame size (SFS) based body mass (BM) estimations across adults as a whole. In this study, we examine the potential effects of age changes in anthropometric dimensions on the estimation accuracy of SFS-based body mass estimation. We use anthropometric data from the literature and our own skeletal data from two osteological collections to study effects of age on stature, bi-iliac breadth, body mass, and body composition, as they are major components behind body size and body size estimations. We focus on males, as relevant longitudinal data are based on male study samples. As a general rule, lean body mass (LBM) increases through adolescence and early adulthood until people are aged in their 30s or 40s, and starts to decline in the late 40s or early 50s. Fat mass (FM) tends to increase until the mid-50s and declines thereafter, but in more mobile traditional societies it may decline throughout adult life. Because BM is the sum of LBM and FM, it exhibits a curvilinear age-related pattern in all societies. Skeletal frame size is based on stature and bi-iliac breadth, and both of those dimensions are affected by age. Skeletal frame size based body mass estimation tends to increase throughout adult life in both skeletal and anthropometric samples because an age-related increase in bi-iliac breadth more than compensates for an age-related stature decline commencing in the 30s or 40s. Combined with the above-mentioned curvilinear BM change, this results in curvilinear estimation bias. However, for simulations involving low to moderate percent body fat, the stature/bi-iliac method works well in predicting body mass in younger and middle-aged adults. Such conditions are likely to have applied to most human paleontological and archaeological samples. Copyright © 2017 Elsevier Ltd. All rights reserved.

Composite selection signals can localize the trait specific genomic regions in multi-breed populations of cattle and sheep

PubMed Central

2014-01-01

Background Discerning the traits evolving under neutral conditions from those traits evolving rapidly because of various selection pressures is a great challenge. We propose a new method, composite selection signals (CSS), which unifies the multiple pieces of selection evidence from the rank distribution of its diverse constituent tests. The extreme CSS scores capture highly differentiated loci and underlying common variants hauling excess haplotype homozygosity in the samples of a target population. Results The data on high-density genotypes were analyzed for evidence of an association with either polledness or double muscling in various cohorts of cattle and sheep. In cattle, extreme CSS scores were found in the candidate regions on autosome BTA-1 and BTA-2, flanking the POLL locus and MSTN gene, for polledness and double muscling, respectively. In sheep, the regions with extreme scores were localized on autosome OAR-2 harbouring the MSTN gene for double muscling and on OAR-10 harbouring the RXFP2 gene for polledness. In comparison to the constituent tests, there was a partial agreement between the signals at the four candidate loci; however, they consistently identified additional genomic regions harbouring no known genes. Persuasively, our list of all the additional significant CSS regions contains genes that have been successfully implicated to secondary phenotypic diversity among several subpopulations in our data. For example, the method identified a strong selection signature for stature in cattle capturing selective sweeps harbouring UQCC-GDF5 and PLAG1-CHCHD7 gene regions on BTA-13 and BTA-14, respectively. Both gene pairs have been previously associated with height in humans, while PLAG1-CHCHD7 has also been reported for stature in cattle. In the additional analysis, CSS identified significant regions harbouring multiple genes for various traits under selection in European cattle including polledness, adaptation, metabolism, growth rate, stature, immunity, reproduction traits and some other candidate genes for dairy and beef production. Conclusions CSS successfully localized the candidate regions in validation datasets as well as identified previously known and novel regions for various traits experiencing selection pressure. Together, the results demonstrate the utility of CSS by its improved power, reduced false positives and high-resolution of selection signals as compared to individual constituent tests. PMID:24636660

Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases.

PubMed

Turan, Serap; Ozdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

2008-01-01

We report two patients with velo-cardio-facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS -3.4 SDS), but showed spontaneous catch-up and ended up with a final height of -2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty.

Spondyloenchondrodysplasia: a rare cause of short stature.

PubMed

Yeşiltepe-Mutlu, Gül; Ozsu, Elif; Cizmecioğlu, Filiz Mine; Alanay, Yasemin; Hatun, Sükrü

2011-01-01

Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature. History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigated. Spondyloenchondrodysplasia is a very rare skeletal dysplasia characterized with enchondromas in the long bones and platyspondyly. Manifestation of the disorder may include neurological involvement (spasticity, intracranial calcifications and mental retardation) and immune dysfunction. Herein, we report a 12-year-old boy who admitted to our clinic with short stature, who was born to consanguineous parents. He presented clinical (significant widening of wrists, ankles and knees) and radiologic (enchondromatous lesions in the metaphysis of long bones) features of spondyloenchondrodysplasia but did not yet have neurologic or immunologic involvement.

Modified Maturity Offset Prediction Equations: Validation in Independent Longitudinal Samples of Boys and Girls.

PubMed

Kozieł, Sławomir M; Malina, Robert M

2018-01-01

Predicted maturity offset and age at peak height velocity are increasingly used with youth athletes, although validation studies of the equations indicated major limitations. The equations have since been modified and simplified. The objective of this study was to validate the new maturity offset prediction equations in independent longitudinal samples of boys and girls. Two new equations for boys with chronological age and sitting height and chronological age and stature as predictors, and one equation for girls with chronological age and stature as predictors were evaluated in serial data from the Wrocław Growth Study, 193 boys (aged 8-18 years) and 198 girls (aged 8-16 years). Observed age at peak height velocity for each youth was estimated with the Preece-Baines Model 1. The original prediction equations were included for comparison. Predicted age at peak height velocity was the difference between chronological age at prediction and maturity offset. Predicted ages at peak height velocity with the new equations approximated observed ages at peak height velocity in average maturing boys near the time of peak height velocity; a corresponding window for average maturing girls was not apparent. Compared with observed age at peak height velocity, predicted ages at peak height velocity with the new and original equations were consistently later in early maturing youth and earlier in late maturing youth of both sexes. Predicted ages at peak height velocity with the new equations had reduced variation compared with the original equations and especially observed ages at peak height velocity. Intra-individual variation in predicted ages at peak height velocity with all equations was considerable. The new equations are useful for average maturing boys close to the time of peak height velocity; there does not appear to be a clear window for average maturing girls. The new and original equations have major limitations with early and late maturing boys and girls.

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

PubMed

Fan, Yanjie; Qiu, Wenjuan; Wang, Lili; Gu, Xuefan; Yu, Yongguo

2016-02-01

Genomic rearrangements involving dosage change of genes have been implicated in a range of developmental disorders. Increasing evidences suggest copy number variations (CNVs) of autism susceptibility candidate gene 2 (AUTS2) are associated with a syndromic form of developmental delay and intellectual disability. However, the genetic and clinical profiles involving AUTS2 variations have not been fully characterized in Asian patients yet, and the outcome of treatments has not been reported. Here we report de novo exonic deletions of AUTS2 detected by chromosomal microarray analysis (CMA) in three Chinese children referred to the clinic for developmental delay, including two deletions involving only exon 6 (98.4 and 262 kb, respectively) and one deletion involving the C-terminal of AUTS2 (2147 kb). The phenotypic presentations of these three patients were described and compared with previous cases in literature. In addition, we presented the outcome of hormonal treatment for short stature in one patient. © 2015 Wiley Periodicals, Inc.

Body Mass Index, Height and Socioeconomic Position in Adolescence, Their Trajectories into Adulthood, and Cognitive Function in Midlife.

PubMed

Cohen-Manheim, Irit; Doniger, Glen M; Sinnreich, Ronit; Simon, Ely S; Murad, Havi; Pinchas-Mizrachi, Ronit; Kark, Jeremy D

2017-01-01

Whether life course anthropometric indices relate to cognitive function in midlife remains insufficiently explored. Rarely was socioeconomic position (SEP) adequately accounted for. To examine the association of the cumulative life course burden of high-ranked body mass index (BMI), its trajectory, and stature with cognitive function in midlife. Weight and height were measured from age 17 across a 33-year follow-up. 507 individuals completed a NeuroTrax computerized cognitive assessment at ages 48-52. Life course SEP was assessed by multiple methods. Using mixed models we calculated the area under the curve (AUC), representing both the life-course burden of BMI (total AUC) and trends in BMI (incremental AUC) from age 17 to midlife. The associations of BMI and height with global cognition and its five component domains were assessed by multiple regression. Higher BMI in late adolescence and total AUC over the life course were associated with poorer global cognition (Standardized beta (Beta) = -0.111, p = 0.005 and Beta = -0.105, p = 0.018, respectively), adjusted for childhood and adulthood SEP, and demographic characteristics. The associations with higher adolescent and midlife BMI were both restricted to those with low childhood SEP (p < 0.05 for interaction). Short adolescent stature was related to poorer cognition (Beta = 0.115, p = 0.040), whereas late final growth in women was associated with better cognition (Beta = 0.213, p = 0.007). An adverse association of higher BMI with cognitive function began in adolescence and was restricted to low childhood SEP. Taller stature in both sexes and late growth in women were associated with better midlife cognitive performance.

Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.

PubMed

Shapiro, Lucy; Chatterjee, Sumana; Ramadan, Dina G; Davies, Kate M; Savage, Martin O; Metherell, Louise A; Storr, Helen L

2017-12-01

GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown. To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole-exome sequencing (WES) and assess factors associated with the discovery of a genetic defect. We undertook a prospective study of 132 patients with short stature and suspected GH or IGF-1 insensitivity referred to our centre for genetic analysis. 107 (96 GHI, 88 probands; 11 IGF-1 insensitivity, 9 probands) underwent CGS. WES was performed in those with no defined genetic aetiology following CGS. A genetic diagnosis was discovered 38/107 (36%) patients (32% probands) by CGS. WES revealed 11 patients with genetic variants in genes known to cause short stature. A further 2 patients had hypomethylation in the H19/IGF2 region or mUPD7 consistent with Silver-Russell Syndrome (total with genetic diagnosis 51/107, 48% or 41/97, 42% probands). WES also identified homozygous putative variants in FANCA and PHKB in 2 patients. Low height SDS and consanguinity were highly predictive for identifying a genetic defect. Comprehensive genetic testing confirms the genetic heterogeneity of GH/IGF-1 insensitivity and successfully identified the genetic aetiology in a significant proportion of cases. WES is rapid and may isolate genetic variants that have been missed by traditional clinically driven genetic testing. This emphasises the benefits of specialist diagnostic centres. © 2017 European Society of Endocrinology.

Primary Spontaneous Pneumothorax in Menstruating Women Has High Recurrence.

PubMed

Mehta, Christopher K; Stanifer, Bryan P; Fore-Kosterski, Susan; Gillespie, Colin; Yeldandi, Anjana; Meyerson, Shari; Odell, David D; DeCamp, Malcolm M; Bharat, Ankit

2016-10-01

Primary spontaneous pneumothorax (PSP) is treated on the basis of studies that have predominantly consisted of tall male subjects. Here, we determined recurrence of PSP in average-statured menstruating women and studied prevalence of catamenial pneumothorax (CP) in this population. Men and menstruating women, aged 18 to 55 years, without underlying lung disease or substance abuse were retrospectively studied between 2009 and 2015. A chest pathologist reviewed all specimens for thoracic endometriosis. Kaplan-Meier curves were constructed to determine recurrence. The median age of women (n = 33) and men (n = 183) was 33.4 and 31.6 years, respectively. In women, 9 (27%) had left-sided and 24 (73%) had right-sided PSP, treated with tube thoracostomy. Recurrence occurred in 21 women (64%) with median follow-up of 14 months, and they were treated with thoracoscopic pleurodesis. Right PSP had higher recurrence (70%) than left PSP (56%, p = 0.02). Four women (12%) presented with recurrent tension pneumothorax within 6 months. Eight patients (24%) had PSP within 72 hours of menses, meeting clinical criteria of CP. All these were placed on hormonal suppression after initial episode but went on to experience recurrence that was treated with pleurodesis. Classical endometrial glands were not found in any biopsy specimens obtained during the thoracoscopy. In contrast to female subjects, only 8 average-statured men (4.4%) had recurrence (p < 0.001) with a median follow-up of 16 months. PSP in healthy average-statured menstruating women has high recurrence compared with male counterparts. CP is a clinical diagnosis and often recurs despite hormonal suppression therapy. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Childhood Stature and Growth in Relation to First Ischemic Stroke or Intracerebral Hemorrhage.

PubMed

Gjærde, Line Klingen; Truelsen, Thomas Clement; Baker, Jennifer Lyn

2018-03-01

Attained height, an indicator of genetic potential and childhood growth environment, is inversely associated with stroke, but the mechanisms are poorly understood. We investigated whether childhood height and growth are associated with ischemic stroke (IS) and intracerebral hemorrhage (ICH). In a cohort of Danish schoolchildren born 1930 to 1989, with measured height from 7 to 13 years, we investigated associations of childhood stature and growth with risks of adult IS and ICH. Cox proportional hazards regressions were performed to estimate hazard ratios (HRs) with CIs separately for women and men. Among 311 009 individuals, 10 412 were diagnosed with IS and 2546 with ICH. Height at 7 years was inversely and significantly associated with IS in both sexes (per z score, equivalent to ≈5.2 cm in women and 5.1 cm in men; women: HR=0.89 [95% CI: 0.87-0.92]; men: HR=0.90 [95% CI: 0.88-0.92]) and with ICH in men (HR=0.89 [95% CI: 0.84-0.94]) but not in women (HR=0.97 [95% CI: 0.91-1.04]). Associations were similar at older childhood ages and were stable throughout the study period. No statistically significant associations for growth from 7 to 13 years were observed for IS or ICH. Short stature at 7 to 13 years is significantly associated with increased risks of IS in both sexes and with ICH in men. Growth during this period of childhood is not significantly associated with either of these stroke subtypes, suggesting that underlying mechanisms linking height with risks of stroke may exert their influence already by early childhood. © 2018 American Heart Association, Inc.

Severity of Carpal Tunnel Syndrome and Diagnostic Accuracy of Hand and Body Anthropometric Measures

PubMed Central

Mondelli, Mauro; Farioli, Andrea; Mattioli, Stefano; Aretini, Alessandro; Ginanneschi, Federica; Greco, Giuseppe; Curti, Stefania

2016-01-01

Objective To study the diagnostic properties of hand/wrist and body measures according to validated clinical and electrophysiological carpal tunnel syndrome (CTS) severity scales. Methods We performed a prospective case-control study. For each case, two controls were enrolled. Two five-stage clinical and electrophysiological scales were used to evaluate CTS severity. Anthropometric measurements were collected and obesity indicators and hand/wrist ratios were calculated. Area under the receiver operating characteristic curves (AUC), sensitivity, specificity, and likelihood ratios were calculated separately by gender. Results We consecutively enrolled 370 cases and 747 controls. The wrist-palm ratio, waist-hip-height ratio and waist-stature ratio showed the highest proportion of cases with abnormal values in the severe stages of CTS for clinical and electrophysiological severity scales in both genders. Accuracy tended to increase with CTS severity for females and males. In severe stage, most of the indexes presented moderate accuracy in both genders. Among subjects with severe CTS, the wrist-palm ratio presented the highest AUC for hand measures in the clinical and electrophysiological severity scales both in females (AUC 0.83 and 0.76, respectively) and males (AUC 0.91 and 0.82, respectively). Among subjects with severe CTS, the waist-stature ratio showed the highest AUC for body measures in the clinical and electrophysiological severity scales both in females (AUC 0.78 and 0.77, respectively) and males (AUC 0.84 and 0.76, respectively). The results of waist-hip-height ratio AUC were similar. Conclusions Wrist-palm ratio, waist-hip-height ratio and waist-stature ratio could contribute to support the diagnostic hypothesis of severe CTS that however has to be confirmed by nerve conduction study. PMID:27768728

Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies.

PubMed

de Zegher, Francis; Reynaert, Nele; De Somer, Lien; Wouters, Carine; Roelants, Mathieu

2018-06-25

Biologicals targeting the interleukin (IL)-1β or IL-6 pathway are becoming prime choices for the treatment of children with systemic juvenile idiopathic arthritis (sJIA). Up to 1 in 3 sJIA children receiving such treatment continues to have inflammatory activity and to require supra-physiological glucocorticoid doses which may reduce growth velocity for years and may lead to an extremely short stature for age, if not for life. Currently, there is no long-term proposal to normalize the adult height of these children with sJIA. We present long-term (up to 10 years), proof-of-concept evidence that the adult stature and adipose body composition of short sJIA children can be normalized with a hormonal combination strategy: (i) pubertal onset is postponed with a gonadotropin-releasing hormone analog (triptorelin) until a minimum height is reached, or until prepubertal growth is exhausted, and (ii) height gain is promoted with growth hormone (≈50 μg/kg/day), once inflammation is under control and high glucocorticoid doses are no longer needed. The latter treatment takes advantage of the window of relative glucocorticoid deficiency, which is known to open after prolonged glucocorticoid administration, and to be uniquely favorable to height gain. A long-term combination of biological and hormonal treatments for short sJIA children can be guided by a simple concept that involves (i) postponement of pubertal development and (ii) growth-promoting therapy after the episodes of major inflammation and high-dose glucocorticoid treatment. Limited long-term experience in short sJIA children suggests that this strategy leads consistently - albeit late - to a normal adult stature. © 2018 S. Karger AG, Basel.

Preliminary shape analysis of the outline of the baropodometric foot: patterns of covariation, allometry, sex and age differences, and loading variations.

PubMed

Bruner, E; Mantini, S; Guerrini, V; Ciccarelli, A; Giombini, A; Borrione, P; Pigozzi, F; Ripani, M

2009-09-01

Baropodometrical digital techniques map the pressures exerted on the foot plant during both static and dynamic loadings. The study of the distribution of such pressures makes it possible to evaluate the postural and locomotory biomechanics together with its pathological variations. This paper is aimed at evaluating the integration between baropodometric analysis (pressure distribution) and geometrical models (shape of the footprints), investigating the pattern of variation associated with normal plantar morphology. The sample includes 91 individuals (47 males, 44 females), ranging from 5 to 85 years of age (mean and standard deviation = 40 + or - 24).The first component of variation is largely associated with the breadth of the isthmus, along a continuous gradient of increasing/decreasing flattening of the foot plant. This character being dominant upon the whole set of morphological components even in a non-pathological sample, such multivariate computation may represent a good diagnostic tool to quantify its degree of expression in individual subject or group samples. Sexual differences are not significant, and allometric variations associated with increasing plantar surface or stature are not quantitatively relevant. There are some differences between adult and young individuals, associated in the latter with a widening of the medial and posterior areas. These results provide a geometrical framework of baropodometrical analysis, suggesting possible future applications in diagnosis and basic research.

Estimation of stature from hand and handprint measurements in Iban population in Sarawak, Malaysia and its applications in forensic investigation.

PubMed

Zulkifly, Nuranis-Raihan; Wahab, Roswanira Abd; Layang, Elizabeth; Ismail, Dzulkiflee; Desa, Wan Nur Syuhaila Mat; Hisham, Salina; Mahat, Naji A

2018-01-01

Handprints and dismembered hands are commonly found during crime scene investigations and disaster victim identifications, respectively. It has been indicated that the accuracy of handprint and hand measurements for estimating stature maybe population specific. Since Iban is the largest ethnic population in Sarawak, Malaysia and because the application of anthropometry of hand and handprint within this population as well as other populations within the Southeast Asian countries remain unreported, this present study that investigated the reliability and accuracy of these two anthropometric aspects acquires forensic significance. Upon measuring the height, 21 measurements were recorded on each hand and the corresponding handprint of 50 male and 52 female consented adult Iban subjects. Using univariate statistics as well as simple and multiple regression analyses, interpretation of the measurements examined here was attempted. Results revealed that lengths of hand and handprint are the more reliable traits for estimating stature in both the male and female Iban subjects (p < 0.05) with correlation strength ranging from 0.60 to 0.76. Comparable to the established skeletal standards for hand, the stature prediction accuracy using hand and handprint measurements investigated in this research ranged between 4.29 and 5.78 cm. Hence, this research provided the first forensic standard for estimation of stature among the Iban population in Sarawak that may prove useful for crime scene investigations and disaster victim identifications in Malaysia. Copyright © 2017 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.

PubMed

Leiberman, E; Pesler, D; Parvari, R; Elbedour, K; Abdul-Latif, H; Brown, M R; Parks, J S; Carmi, R

2000-01-31

Isolated growth hormone deficiency (IGHD) IB is an autosomal recessive disorder characterized by a good response to exogenous growth hormone (GH) treatment without development of anti-GH antibodies. Patients with IGHD IB were found to be compound heterozygotes for deletion and frameshift mutations as well as homozygotes for splicing mutations in the GH-1 gene. Recently, a novel splicing mutation in the GH-1 gene was identified in an extended, consanguineous Arab-Bedouin family from Israel with IGHD IB. Prior to the identification of this mutation, a considerable number of children with short stature in this family were found normal on pharmacological stimulation for GH release. This observation prompted a genotype/phenotype correlation of potential heterozygotes in the family. Carriers of the mutant GH-1 allele were found as a group to have a significantly shorter stature than normal homozygote (mean standard deviation scores, 1.67 and -0.40, respectively, P<0.05). Moreover, 11 of 33 (33%) heterozygotes, but only 1 of 17 (5.9%) normal homozygotes, had their height at 2 or more SD below the mean. Overall, 48.5% of studied heterozygotes were found to be of appreciably short stature with height at or lower than the 5th centile (> or = -1.7 SD), whereas only 5.9% of the normal homozygotes did (P<0.004). This phenomenon of heterozygotes for a recessive mutation in the GH-1 gene manifesting short stature, might imply that some such mutations may account for non-GH deficiency reduced height in the general population.

Age-related factors in the relationship between foot measurements and living stature and body weight.

PubMed

Atamturk, Derya; Duyar, Izzet

2008-11-01

The measurements of feet and footprints are especially important in forensic identification, as they have been used to predict the body height and weight of victims or suspects. It can be observed that the subjects of forensic-oriented studies are generally young adults. That is to say, researchers rarely take into consideration the body's proportional changes with age. Hence, the aim of this study is to generate equations which take age and sex into consideration, when stature and body weight are estimated from foot and footprints dimensions. With this aim in mind, we measured the stature, body weight, foot length and breadth, heel breadth, footprint length and breadth, and footprint heel breadth of 516 volunteers (253 males and 263 females) aged between 17.6 and 82.9 years using standard measurement techniques. The sample population was divided randomly into two groups. Group 1, the study group, consisted of 80% of the sample (n = 406); the remaining 20% were assigned to the cross-validation group or Group 2 (n = 110). In the first stage of the study, we produced equations for estimating stature and weight using a stepwise regression technique. Then, their reliability was tested on Group 2 members. Statistical analyses showed that the ratios of foot dimensions to stature and body weight change considerably with age and sex. Consequently, the regression equations which include these variables yielded more reliable results. Our results indicated that age and sex should be taken into consideration when predicting human body height and weight for forensic purposes.

Changes in body size and physical characteristics of South African under-20 rugby union players over a 13-year period.

PubMed

Lombard, Wayne P; Durandt, Justin J; Masimla, Herman; Green, Mervin; Lambert, Michael I

2015-04-01

This study compared changes in the body size and physical characteristics of South African under-20 rugby union players over a 13-year period. A total of 453 South African under-20 players (forwards: n = 256 and backs: n = 197) underwent measurements of body mass, stature, muscular strength, endurance, and 10- and 40-m sprint times. A 2-way analysis of variance was used to determine significant differences for the main effects of position (forwards vs. backs) and time (1998-2010). The pooled data showed that forwards were significantly heavier (22%), taller (5%), and stronger (18%) than the backs. However, when 1 repetition maximum strength scores were adjusted for body mass, backs were stronger per kg body mass. Stature did not change over the 13-year period for both groups. There were, however, significant increases in muscular strength (50%), body mass (20%), and muscular endurance (50%). Furthermore, an improvement in sprint times over 40 (4%) and 10 m (7%) was evident over the period of the study. In conclusion, the players became heavier, stronger, taller, and improved their upper-body muscular endurance over the 13 years of the study. Furthermore, sprint times over 10 and 40 m improved over the same time period despite the increase in body mass. It can be speculated that the changes in physical characteristics of the players over time are possibly a consequence of (a) adaptations to the changing demands of the game and (b) advancements in training methods.

Genome-wide association study for birth weight Brazilian Nellore cattle (Bos primigenuis indicus) points to previously described orthologous genes affecting human and bovine height

USDA-ARS?s Scientific Manuscript database

Birth weight (BW) is an economically important trait in beef cattle, and is associated with growth- and stature-related traits. One region of the cattle genome, located on bovine autosome (BTA) 14, has been previously shown to be associated with stature by multiple independent studies, and contains ...

Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.

PubMed

Lin, Ying-Ju; Liao, Wen-Ling; Wang, Chung-Hsing; Tsai, Li-Ping; Tang, Chih-Hsin; Chen, Chien-Hsiun; Wu, Jer-Yuarn; Liang, Wen-Miin; Hsieh, Ai-Ru; Cheng, Chi-Fung; Chen, Jin-Hua; Chien, Wen-Kuei; Lin, Ting-Hsu; Wu, Chia-Ming; Liao, Chiu-Chu; Huang, Shao-Mei; Tsai, Fuu-Jen

2017-07-25

Human height can be described as a classical and inherited trait model. Genome-wide association studies (GWAS) have revealed susceptible loci and provided insights into the polygenic nature of human height. Familial short stature (FSS) represents a suitable trait for investigating short stature genetics because disease associations with short stature have been ruled out in this case. In addition, FSS is caused only by genetically inherited factors. In this study, we explored the correlations of FSS risk with the genetic loci associated with human height in previous GWAS, alone and cumulatively. We systematically evaluated 34 known human height single nucleotide polymorphisms (SNPs) in relation to FSS in the additive model (p < 0.00005). A cumulative effect was observed: the odds ratios gradually increased with increasing genetic risk score quartiles (p < 0.001; Cochran-Armitage trend test). Six affected genes-ZBTB38, ZNF638, LCORL, CABLES1, CDK10, and TSEN15-are located in the nucleus and have been implicated in embryonic, organismal, and tissue development. In conclusion, our study suggests that 13 human height GWAS-identified SNPs are associated with FSS risk both alone and cumulatively.

Analysis of the most relevant anthropometric dimensions for school furniture selection based on a study with students from one Chilean region.

PubMed

Castellucci, H I; Arezes, P M; Molenbroek, J F M

2015-01-01

Most of the worldwide standards used for furniture selection suggest the use of the Stature of the school children, assuming that all the other anthropometric characteristics will also be appropriate. However, it is important to consider that students' growth differ with age. The aim of this study is to determine if Popliteal Height can be used as a better, or more adequate, measure for classroom furniture selection when comparing with Stature. This study involved a representative group of 3046 students from the Valparaíso Region, in Chile. Regarding the methodology, eight anthropometric measures were gathered, as well as six furniture dimensions from the Chilean standard. After assigning the level of school furniture using Stature and Popliteal Height to each of the students, six mismatch equations were applied. The results show that when using Popliteal Height, higher levels of match were obtained for the two more important furniture dimensions. Additionally, it also presents a better cumulative fit than Stature. In conclusion, it seems that Popliteal Height can be the most accurate anthropometric measure for classroom furniture selection purposes. Copyright © 2014 Elsevier Ltd and The Ergonomics Society. All rights reserved.

Craniofacial morphology, dental occlusion, tooth eruption, and dental maturity in boys of short stature with or without growth hormone deficiency.

PubMed

Kjellberg, H; Beiring, M; Albertsson Wikland, K

2000-10-01

The aim of this project was to study the craniofacial morphology, dental occlusion, dental maturation and tooth eruption in short-statured boys with growth hormone secretion ranging from low to high. The measurements from lateral and posteroanterior cephalograms, orthopantomograms and plaster models were used. Almost all linear measurements of the facial structures were significantly smaller. A disproportionate growth in the cranial base structures as well as in the jaws resulted in facial retrognathia, a proportionately smaller posterior than anterior facial height, and a steep vertical inclination of the mandible. Dental crowding was more common and the overbite was small. Dental maturity and tooth eruption were delayed 1.2 and 1.3 yr, respectively. No significant differences between the idiopathic short-statured and the growth hormone-deficient group in any of the above-mentioned variables were found. It can be concluded that although most of the cephalometric variables measured differed significantly from the average, the facial appearance of the boys is not conspicuous and is of minor clinical importance. However, the short-statured boys might be in greater need of orthodontic treatment due to the higher percentage of dental crowding.

The Remarkable Change in Euro-American Cranial Shape and Size.

PubMed

Jantz, Richard L; Jantz, Lee Meadows

2016-01-01

Secular changes in stature, weight, or other components of the body that can be obtained from historical records have been extensively studied. Cranial change has been central to anthropology for more than a century, but the focus has normally been on change measured in centuries or millennia. Cranial change measured in decades, normally considered to result from plastic response to the environment, has been less studied. This article reports on change in cranial vault dimensions in white Americans. Variables were glabello-occipital length (GOL), basion-bregma height (BBH), basion-nasion length (BNL), maximum cranial breadth (XCB), and biauricular breadth (AUB). Cranial size was calculated as the geometric mean of these variables, and shape dimensions were calculated as described by Darroch and Mosimann ( 1985 ). Cranial module and cranial capacity were also calculated. Samples consisted of 1,112 males and 668 females complete for those variables. Samples were organized into 10-year birth cohorts, with birth years ranging from 1820 to 1990. One-way ANOVA was used to test for variation among cohorts. The pattern of secular change was examined graphically and was compared with quality-of-life and environmental indicators, including stature, infant mortality, calories per person, and relative number of immigrants. All variables showed significant secular change, but BBH, XCB, and BNL responded most strongly. Over the past 170 years, crania became relatively higher, narrower, and larger with longer cranial bases. Both sexes changed, but female change was less pronounced than male change. The cranial variables tracked secular changes in stature, most prominently BNL. The highest correlation between a cranial variable and quality-of-life indicator was BBH and infant mortality. We are not able to identify specific causes of secular changes in cranial morphology. However, given that modern Americans have introduced themselves into a novel environment never before experienced by human populations, we consider it unlikely that it is pure plasticity. In addition to possible plastic responses, it is likely that selection, acting through the dramatic changes in infant mortality, is also involved.

Constitutional Growth Delay Pattern of Growth in Velo−Cardio−Facial Syndrome: Longitudinal follow up and final height of two cases

PubMed Central

Özdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

2008-01-01

We report two patients with velo−cardio−facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS −3.4 SDS), but showed spontaneous catch−up and ended up with a final height of −2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty. Conflict of interest:None declared. PMID:21318064

Deletion of the SHOX gene in patients with short stature of unknown cause.

PubMed

Morizio, E; Stuppia, L; Gatta, V; Fantasia, D; Guanciali Franchi, P; Rinaldi, M M; Scarano, G; Concolino, D; Giannotti, A; Verrotti, A; Chiarelli, F; Calabrese, G; Palka, G

2003-06-15

A fluorescence in situ hybridization (FISH) study was performed in 56 patients with short stature of unknown cause in order to establish the role of deletion of the SHOX gene in this population. FISH analysis was carried out on metaphase spreads and interphase lymphocytes from blood smears using a probe specific for the SHOX gene. Deletion of SHOX was found in four patients (7.1%). No skeletal abnormalities were detected in these patients either at the physical examination or at X-rays of the upper and lower limbs. Present results indicate that SHOX plays an important role also in short stature of unknown cause, and FISH analysis appears as an easy, appropriate, and inexpensive method for the detection of SHOX deletion. Copyright 2003 Wiley-Liss, Inc.

In Italy, North-South Differences in IQ Predict Differences in Income, Education, Infant Mortality, Stature, and Literacy

ERIC Educational Resources Information Center

Lynn, Richard

2010-01-01

Regional differences in IQ are presented for 12 regions of Italy showing that IQs are highest in the north and lowest in the south. Regional IQs obtained in 2006 are highly correlated with average incomes at r = 0.937, and with stature, infant mortality, literacy and education. The lower IQ in southern Italy may be attributable to genetic…

Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.

PubMed

Binder, G; Schwarze, C P; Ranke, M B

2000-01-01

Point mutations or complete deletions of SHOX, the short-stature homeobox-containing gene on the pseudoautosomal region of the sex chromosomes (Xp22 and Yp11.3), were recently reported in one family with idiopathic short stature and in several families with Leri-Weill syndrome (dyschondrosteosis). The missing SHOX is also thought to attribute to the growth failure in Turner syndrome. For testing the frequency of defects of SHOX in unexplained growth failure and recombinant human GH (rhGH) as a possible growth-promoting agent, we selected 68 children with idiopathic short stature. These probands had heights below -2.0 SD score for age, normal target heights, no significant bone age retardations, no endocrine abnormalities, no skeletal diseases, and no other organic diseases. No mutations were detected by single-strand conformational polymorphism analysis of the PCR-amplified SHOX. The analysis of three microsatellite DNA markers of the pseudoautosomal region, including one located on the 5' untranslated region of SHOX-exon 1, identified a 15-yr-old girl who carried a mutation in the form of a complete SHOX deletion. This girl who had a normal karyotype presented with mild mesomelic shortening of the forearms and lower legs. We treated two children with short stature on the basis of a SHOX point mutation (C674T) with rhGH at a dose of 1.0 IU/kg body weight-week in accordance with the regimen used in Turner syndrome. During the first 12 months of treatment, these two children (5.9- and 8.4-yr-old) showed an excellent growth spurt with a growth rate of 9.5 and 9.4 cm/yr, respectively. Growth of the lower extremities was weaker than in the trunk and arms. Our data suggest that short stature due to SHOX deletions is not a rare entity. Growth-promoting therapy with rhGH was effective with regard to height gain, but a tendency to disproportionate growth was apparent. In cases of unexplained growth failure, especially if associated with any mild skeletal disproportions, genetic analysis of SHOX should be considered.

Pollination and reproduction of an invasive plant inside and outside its ancestral range

NASA Astrophysics Data System (ADS)

Petanidou, Theodora; Price, Mary V.; Bronstein, Judith L.; Kantsa, Aphrodite; Tscheulin, Thomas; Kariyat, Rupesh; Krigas, Nikos; Mescher, Mark C.; De Moraes, Consuelo M.; Waser, Nickolas M.

2018-05-01

Comparing traits of invasive species within and beyond their ancestral range may improve our understanding of processes that promote aggressive spread. Solanum elaeagnifolium (silverleaf nightshade) is a noxious weed in its ancestral range in North America and is invasive on other continents. We compared investment in flowers and ovules, pollination success, and fruit and seed set in populations from Arizona, USA ("AZ") and Greece ("GR"). In both countries, the populations we sampled varied in size and types of present-day disturbance. Stature of plants increased with population size in AZ samples whereas GR plants were uniformly tall. Taller plants produced more flowers, and GR plants produced more flowers for a given stature and allocated more ovules per flower. Similar functional groups of native bees pollinated in AZ and GR populations, but visits to flowers decreased with population size and we observed no visits in the largest GR populations. As a result, plants in large GR populations were pollen-limited, and estimates of fecundity were lower on average in GR populations despite the larger allocation to flowers and ovules. These differences between plants in our AZ and GR populations suggest promising directions for further study. It would be useful to sample S. elaeagnifolium in Mediterranean climates within the ancestral range (e.g., in California, USA), to study asexual spread via rhizomes, and to use common gardens and genetic studies to explore the basis of variation in allocation patterns and of relationships between visitation and fruit set.

Integrating CNVs into meta-QTL identified GBP4 as positional candidate for adult cattle stature.

PubMed

Cao, Xiu-Kai; Huang, Yong-Zhen; Ma, Yi-Lei; Cheng, Jie; Qu, Zhen-Xian; Ma, Yun; Bai, Yue-Yu; Tian, Feng; Lin, Feng-Peng; Ma, Yu-Lin; Chen, Hong

2018-05-08

Copy number variation (CNV) of DNA sequences, functionally significant but yet fully ascertained, is believed to confer considerable increments in unexplained heritability of quantitative traits. Identification of phenotype-associated CNVs (paCNVs) therefore is a pressing need in CNV studies to speed up their exploitation in cattle breeding programs. Here, we provided a new avenue to achieve this goal that is to project the published CNV data onto meta-quantitative trait loci (meta-QTL) map which connects causal genes with phenotypes. Any CNVs overlapping meta-QTL therefore will be potential paCNVs. This study reported potential paCNVs in Bos taurus autosome 3 (BTA3). Notably, overview indexes and CNVs both highlighted a narrower region (BTA3 54,500,000-55,000,000 bp, named BTA3_INQTL_6) within one constructed meta-QTL. Then, we ascertained guanylate-binding protein 4 (GBP4) among the nine positional candidate genes was significantly associated with adult cattle stature, including body weight (BW, P < 0.05) and withers height (WHT, P < 0.05), fitting GBP4 CNV either with three levels or with six levels in the model. Although higher copy number downregulated the mRNA levels of GBP2 (P < 0.05) and GBP4 (P < 0.05) in 1-Mb window (54.0-55.0 Mb) in muscle and adipose, additional analyses will be needed to clarify the causality behind the ascertained association.

Intrapopulation variation in stature and body proportions: social status and sex differences in an Italian medieval population (Trino Vercellese, VC).

PubMed

Vercellotti, Giuseppe; Stout, Sam D; Boano, Rosa; Sciulli, Paul W

2011-06-01

The phenotypic expression of adult body size and shape results from synergistic interactions between hereditary factors and environmental conditions experienced during growth. Variation in body size and shape occurs even in genetically relatively homogeneous groups, due to different occurrence, duration, and timing of growth insults. Understanding the causes and patterns of intrapopulation variation can foster meaningful information on early life conditions in living and past populations. This study assesses the pattern of biological variation in body size and shape attributable to sex and social status in a medieval Italian population. The sample includes 52 (20 female, 32 male) adult individuals from the medieval population of Trino Vercellese, Italy. Differences in element size and overall body size (skeletal height and body mass) were assessed through Monte Carlo methods, while univariate non-parametric tests and Principal Component Analysis (PCA) were employed to examine segmental and overall body proportions. Discriminant Analysis was employed to determine the predictive value of individual skeletal elements for social status in the population. Our results highlight a distinct pattern in body size and shape variation in relation to status and sex. Male subsamples exhibit significant postcranial variation in body size, while female subsamples express smaller, nonsignificant differences. The analysis of segmental proportions highlighted differences in trunk/lower limb proportions between different status samples, and PCA indicated that in terms of purely morphological variation high status males were distinct from all other groups. The pattern observed likely resulted from a combination of biological factors and cultural practices. Copyright © 2011 Wiley-Liss, Inc.

Extraintestinal Manifestations of Celiac Disease: Effectiveness of the Gluten-Free Diet.

PubMed

Jericho, Hilary; Sansotta, Naire; Guandalini, Stefano

2017-07-01

The aim of the study was to evaluate the effectiveness of the gluten-free diet (GFD) on extraintestinal symptoms in pediatric and adult celiac populations at the University of Chicago. We conducted a retrospective chart review of the University of Chicago Celiac Center clinic charts from January 2002 to October 2014. Demographics, serologic testing, intestinal biopsies, and extraintestinal symptoms at presentation, 12, 24, and >24 months were recorded. Extraintestinal symptoms included abnormal liver enzymes, arthralgia/arthritis, dermatitis herpetiformis, alopecia, fatigue, headache, anemia, stomatitis, myalgias, psychiatric disorders, rashes, seizures, neuropathy, short stature, delayed puberty, osteoporosis, and infertility. A total of 737 patients with biopsy-confirmed celiac disease or skin biopsy-confirmed dermatitis herpetiformis were included. Patients lost to follow-up, or with insufficient data were excluded leaving 328 patients (157 pediatrics younger than 18 years). For pediatrics, the female to male ratio was 2:1 and the mean age at diagnosis was 8.9 years. For adults, 4:1 and 40.6 years old. Extraintestinal symptom rates were similar in children (60%) and adults (62%). Short stature (33%), fatigue (28%), and headache (20%) were most common in children. Iron deficiency anemia (48%), fatigue (37%), and headache/psychiatric disorders (24%) were common in adults. Children had faster/higher rates of symptom resolution compared with adults. Twenty-eight percent of children with unresolved short stature on a GFD were found to have other comorbidities. Children and adults with celiac disease have similar rates of extraintestinal manifestations. In children short stature, fatigue, and headache were most common, whereas anemia, fatigue, and headache/psychiatric disorders were most common in adults. Children on a strict GFD showed faster and higher rates of symptom resolution as compared to adults. Unresponsive children with short stature must be assessed for comorbidities.

Body mass and stature estimation based on the first metatarsal in humans.

PubMed

De Groote, Isabelle; Humphrey, Louise T

2011-04-01

Archaeological assemblages often lack the complete long bones needed to estimate stature and body mass. The most accurate estimates of body mass and stature are produced using femoral head diameter and femur length. Foot bones including the first metatarsal preserve relatively well in a range of archaeological contexts. In this article we present regression equations using the first metatarsal to estimate femoral head diameter, femoral length, and body mass in a diverse human sample. The skeletal sample comprised 87 individuals (Andamanese, Australasians, Africans, Native Americans, and British). Results show that all first metatarsal measurements correlate moderately to highly (r = 0.62-0.91) with femoral head diameter and length. The proximal articular dorsoplantar diameter is the best single measurement to predict both femoral dimensions. Percent standard errors of the estimate are below 5%. Equations using two metatarsal measurements show a small increase in accuracy. Direct estimations of body mass (calculated from measured femoral head diameter using previously published equations) have an error of just over 7%. No direct stature estimation equations were derived due to the varied linear body proportions represented in the sample. The equations were tested on a sample of 35 individuals from Christ Church Spitalfields. Percentage differences in estimated and measured femoral head diameter and length were less than 1%. This study demonstrates that it is feasible to use the first metatarsal in the estimation of body mass and stature. The equations presented here are particularly useful for assemblages where the long bones are either missing or fragmented, and enable estimation of these fundamental population parameters in poorly preserved assemblages. Copyright © 2011 Wiley-Liss, Inc.

Leg length, body proportion, and health: a review with a note on beauty.

PubMed

Bogin, Barry; Varela-Silva, Maria Inês

2010-03-01

Decomposing stature into its major components is proving to be a useful strategy to assess the antecedents of disease, morbidity and death in adulthood. Human leg length (femur + tibia), sitting height (trunk length + head length) and their proportions, for example, (leg length/stature), or the sitting height ratio (sitting height/stature x 100), among others) are associated with epidemiological risk for overweight (fatness), coronary heart disease, diabetes, liver dysfunction and certain cancers. There is also wide support for the use of relative leg length as an indicator of the quality of the environment for growth during infancy, childhood and the juvenile years of development. Human beings follow a cephalo-caudal gradient of growth, the pattern of growth common to all mammals. A special feature of the human pattern is that between birth and puberty the legs grow relatively faster than other post-cranial body segments. For groups of children and youth, short stature due to relatively short legs (i.e., a high sitting height ratio) is generally a marker of an adverse environment. The development of human body proportions is the product of environmental x genomic interactions, although few if any specific genes are known. The HOXd and the short stature homeobox-containing gene (SHOX) are genomic regions that may be relevant to human body proportions. For example, one of the SHOX related disorders is Turner syndrome. However, research with non-pathological populations indicates that the environment is a more powerful force influencing leg length and body proportions than genes. Leg length and proportion are important in the perception of human beauty, which is often considered a sign of health and fertility.

Short stature and ischemic stroke in nonvalvular atrial fibrillation: new insight into the old observation.

PubMed

Moon, Jeonggeun; Lee, Hye-Jeong; Kim, Young Jin; Kim, Jong-Youn; Pak, Hui-Nam; Ha, Jong-Won; Lee, Moon-Hyoung; Joung, Boyoung

2014-07-01

For decades, repeated epidemiologic observations have been made regarding the inverse relationship between stature and cardiovascular disease, including stroke. However, the concept has not been fully evaluated in patients with atrial fibrillation (AF). We investigated whether patient's height is associated with ischemic stroke in patients with nonvalvular AF and attempted to ascertain a potential mechanism. All 558 AF patients were enrolled: 211 patients with ischemic stroke (144 men, 68 ± 10 years) and 347 no-stroke patients (275 men, 56 ± 11 years) as a control group. Clinical characteristics and echocardiographic parameters were compared between the two groups. (1) Stroke patients were shorter than those in the control group (164 ± 8, vs. 169 ± 8 cm, p<0.001). However, body mass index failed to predict ischemic stroke; (2) Short stature (OR 0.93, 95% CI 0.91-0.95, p<0.001) along with left atrial (LA) anterior-posterior diameter and diastolic mitral inflow velocity (E) to diastolic mitral annuls velocity (E') (E/E') were independent predictor of stroke; (3) Height showed inverse correlation with E/E' independently, even after adjusting for other variables, including age, sex, and body weight, and comorbidities β -0.20, p=0.003); (4) LA size showed no correlation with stature (R=-0.06, p=0.18), whereas left ventricular size increases according to height of patients. Short stature is associated with occurrence of ischemic stroke and diastolic dysfunction in patients with AF and preserved systolic function. Height is a non-modifiable risk factor of stroke and might be more important than obesity in Asian AF patients, who are relatively thinner than western populations. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

[Height and weight growth delay and protein-energy malnutrition in children with chronic dialysis].

PubMed

Perţea, L; Diaconeasa, Lavinia; Burlea, M; Munteanu, Mihaela; Brumariu, O

2010-01-01

Growth retardation is an important problem in children with chronic renal disease, and malnutrition is a determinative factor. The study intends to assess the relationship between protein-energy malnutrition and stature-weight retardation in children enrolled in chronic dialysis program. The study group was composed of 16 children (5 boys and 11 girls--sex ratio of 2.2) hospitalized in the IVth Nephrology Clinic at Clinical Emergency Hospital "St. Maria" Iaşi, 13 rural and 3 urban, aged between 9 and 17 years, with chronic dialysis program. This was a follow-up study during a period of 4 years (2006-2009), resulting in correlations between anthropometric paremeters, biochemical, BIA and DEXA data. The stature-weight deficiency of the 16 patients was as follows: after an average period of 61.7 months of HD and 32.7 months of PD, in children older than 12 years (mean age 15.27 years), 7 of 10 had stature-weight deficits higher than (-3DS) or (-4DS). The group with less than (-2DS) stature-weight deficits showed the same mean age of 15.2 years, the protein energy-malnutrition was present in 2 cases (33%) and was attributed to a dialysis period shorter than 13.8 months. The late diagnosis of the disease (at an average age of 13 years), the long period of chronic dialysis program (over 39.5 months on average) and the early debut of malnutrition are favoring or worsening factors of stature-weight retardation. After correlating ESG with biochemical, BIA and DEXA data, in our group were identified 4 cases of moderate malnutrition and 9 cases of severe malnutrition.

Analysis of age, stature, body mass, BMI and quality of elite soccer players from 4 European Leagues.

PubMed

Bloomfield, J; Polman, R; Butterly, R; O'Donoghue, P

2005-03-01

The aim was to identify which league (English Premier League, Spanish La Liga Division, Italian Serie A and German Bundesliga) contained the highest quality players and whether differences in age, stature, body mass and BMI existed between the different positions in different leagues. Data were collected concerning 2,085 professional soccer players playing in these 4 leagues during the 2001-2002 season. Player quality was determined by the leagues' number of international players and their nations' FIFA World Ranking (FWR). The La Liga Division contained the highest quality players (mean FWR) (11.5+/-13.8), followed by the Serie A (13.3+/-21.3), the Premier League (30.6+/-27.3) and the Bundesliga (30.7+/-27.1), respectively. Also, differences were found between the age, stature, body mass and BMI of players in different positions and in the different leagues. Age had a significant influence on position with goalkeepers (years) (27.4+/-5.3) being older than midfielders (26.2+/-4.3) and forwards (25.8+/-4.2) and defenders (26.8+/-4.3) being older than forwards. Players from the Bundesliga had the greatest stature (m) (1.83+/-0.06), body mass (kg) (77.5+/-6.4) and BMI (kg x m(-2)) (23.2+/-1.1) of the 4 leagues. In reflection, La Liga's players had the shortest stature (1.80+/-0.06) and the Serie A players had the least body mass (74.3+/-5.4) and BMI (22.8+/-1.1). The differences discovered suggest either differences in playing style and physical demands of the different leagues, different physical conditioning methods or, alternatively, that there are desirable characteristics of players with teams in all 4 leagues seeking such players.

FGFR3 is a target of the homeobox transcription factor SHOX in limb development.

PubMed

Decker, Eva; Durand, Claudia; Bender, Sebastian; Rödelsperger, Christian; Glaser, Anne; Hecht, Jochen; Schneider, Katja U; Rappold, Gudrun

2011-04-15

The short stature homeobox gene SHOX encodes a transcription factor which is important for normal limb development. In humans, SHOX deficiency has been associated with various short stature syndromes including Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia and Turner syndrome as well as non-syndromic idiopathic short stature. A common feature of these syndromes is disproportionate short stature with a particular shortening of the forearms and lower legs. In our studies employing microarray analyses and cell culture experiments, we revealed a strong positive effect of SHOX on the expression of the fibroblast growth factor receptor gene FGFR3, another well-known factor for limb development. Luciferase reporter gene assays show that SHOX activates the extended FGFR3 promoter, and results from chromatin immunoprecipitation (ChIP)-sequencing, ChIP and electrophoretic mobility shift assay experiments suggest a direct binding of SHOX to multiple upstream sequences of FGFR3. To further investigate these regulations in a cellular system for limb development, the effect of viral overexpression of Shox in limb bud derived chicken micromass cultures was tested. We found that Fgfr3 was negatively regulated by Shox, as demonstrated by quantitative real-time polymerase chain reaction and in situ hybridization. This repressive effect might explain the almost mutually exclusive expression patterns of Fgfr3 and Shox in embryonic chicken limbs. A negative regulation that occurs mainly in the mesomelic segments, a region where SHOX is known to be strongly expressed, offers a possible explanation for the phenotypes seen in patients with FGFR3 (e.g. achondroplasia) and SHOX defects (e.g. LWD). In summary, these data present a link between two frequent short stature phenotypes.

Leg Length, Body Proportion, and Health: A Review with a Note on Beauty

PubMed Central

Bogin, Barry; Varela-Silva, Maria Inês

2010-01-01

Decomposing stature into its major components is proving to be a useful strategy to assess the antecedents of disease, morbidity and death in adulthood. Human leg length (femur + tibia), sitting height (trunk length + head length) and their proportions, for example, (leg length/stature), or the sitting height ratio (sitting height/stature × 100), among others) are associated with epidemiological risk for overweight (fatness), coronary heart disease, diabetes, liver dysfunction and certain cancers. There is also wide support for the use of relative leg length as an indicator of the quality of the environment for growth during infancy, childhood and the juvenile years of development. Human beings follow a cephalo-caudal gradient of growth, the pattern of growth common to all mammals. A special feature of the human pattern is that between birth and puberty the legs grow relatively faster than other post-cranial body segments. For groups of children and youth, short stature due to relatively short legs (i.e., a high sitting height ratio) is generally a marker of an adverse environment. The development of human body proportions is the product of environmental x genomic interactions, although few if any specific genes are known. The HOXd and the short stature homeobox-containing gene (SHOX) are genomic regions that may be relevant to human body proportions. For example, one of the SHOX related disorders is Turner syndrome. However, research with non-pathological populations indicates that the environment is a more powerful force influencing leg length and body proportions than genes. Leg length and proportion are important in the perception of human beauty, which is often considered a sign of health and fertility. PMID:20617018

Quality of referral of short children to the paediatric endocrinologist and impact of a fax communication system.

PubMed

Chiniara, Lyne; Perry, Rebecca J; Van Vliet, Guy; Huot, Céline; Deal, Cheri

2013-12-01

In 2001, a chart review of children referred to the authors' endocrine clinic because of short stature revealed that many were referred with insufficient baseline data, had normal height velocity and were within genetic target height. Therefore, a two-way fax communication system was implemented between referring physicians and the authors' service before the first visit. Aspects that were assessed included whether this system increased the information accompanying the patient at referral, resulted in children with nonpathological shortness not being seen in the clinic, and was used differently by paediatricians and general practitioners. Between January and December 2006, 138 referrals for short stature, diagnosed with familial short stature, constitutional delay or idiopathic short stature, were audited (69 with and 69 without previous fax communication). Data collected included source of referral, clinical information provided, available growth measurements, and results from laboratory and imaging studies. Fax communication resulted in growth curves being provided more often (95.6% of cases versus 40.5% of cases without fax communication [P<0.001]) and more investigations being performed by the referring physician (median [range]: six [zero to 13] investigations versus one [zero to 11]; P<0.001), as well as a diagnosis of nonpathological short stature being given to 31 children based on the growth curve, laboratory and imaging results, without the children being seen in the endocrine clinic. Fax communication was also used more frequently by paediatricians (84%) than by general practitioners (15%). The fax communication system resulted in a more complete evaluation of referred patients by their physicians and reduced the number of unnecessary visits to the authors' specialty clinic while promoting medical education.

Prevalence of small for gestational age (SGA) and short stature in children born SGA who qualify for growth hormone treatment at 3 years of age: Population-based study.

PubMed

Fujita, Kaori; Nagasaka, Miwako; Iwatani, Sota; Koda, Tsubasa; Kurokawa, Daisuke; Yamana, Keiji; Nishida, Kosuke; Taniguchi-Ikeda, Mariko; Uchino, Eiko; Shirai, Chika; Iijima, Kazumoto; Morioka, Ichiro

2016-05-01

To treat children born small for gestational age (SGA) with severe short stature, treatment with growth hormone (GH) has been approved in the USA, Europe, and Japan, but no population-based studies have reported their prevalence. The aims of this study were to investigate the prevalence of SGA and short stature in children born SGA who qualify for GH treatment at 3 years of age in a Japanese population. A population-based study was conducted in Kobe, Japan with 27 228 infants who were born between 2006 and 2008 and followed until 3 years of age. Prevalence of birthweight (BW) or birth length (BL) ≤ -2.0 standard deviation scores (SDS) for gestational age (GA; definition of SGA) was calculated. Short children born SGA who qualify for GH treatment at 3 years of age were estimated using the following criteria: BW and BL below the 10th percentile for GA, BW or BL ≤ -2.0 SDS for GA, and 2.5 SDS below the mean height for age. The prevalence of SGA was 3.5%. The estimated prevalence of short stature in children born SGA who met the criteria for GH treatment was 0.06%. The prevalence in infants born <34 weeks (0.39%) was significantly higher than that in infants born 34-41 weeks GA (0.05%, P = 0.02). The prevalence of SGA and short stature in children born SGA who qualify for GH treatment is approximately 1 of 30 infants and 1 of 1800 children, respectively. The risk is increased when children are born <34 weeks GA. © 2015 Japan Pediatric Society.

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

PubMed

Wit, Jan M; Oostdijk, Wilma; Losekoot, Monique; van Duyvenvoorde, Hermine A; Ruivenkamp, Claudia A L; Kant, Sarina G

2016-04-01

The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFκB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous NPR2 or SHOX defects may be found in ∼3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders. © 2016 European Society of Endocrinology.

Evo-devo of infantile and childhood growth.

PubMed

Hochberg, Ze'ev; Albertsson-Wikland, Kerstin

2008-07-01

Human size is a tradeoff between the evolutionary advantages and disadvantages of being small or big. We now propose that adult size is determined to an important extent during transition from infancy to childhood. This transition is marked by a growth spurt. A delay in the transition has a lifelong impact on stature and is responsible for 44% of children with short stature in developed countries and many more in developing countries. Here, we present the data and theory of an evolutionary adaptive strategy of plasticity in the timing of transition from infancy into childhood to match the prevailing energy supply. We propose that humans have evolved to withstand energy crises by decreasing their body size, and that evolutionary short-term adaptations to energy crises trigger a predictive adaptive response that modify the transition into childhood, culminating in short stature.

45,X/46,XY Mosaicism and Possible Association With Hypothyroidism in Males.

PubMed

Hojat, Leila; Schweiger, Michelle

2016-06-01

Mosaicism has a wide phenotypic spectrum but frequently manifests as the normal male phenotype. Its association with short stature has been well recognized and appears to respond effectively to growth hormone therapy. We present 2 phenotypically normal males who both initially presented with short stature and were found to have hypothyroidism. They were treated for hypothyroidism but their growth did not improve as expected. Further testing revealed 45,X/46,XY mosaicism in both males. We propose that a potential link exists between 45,X/46,XY mosaicism and hypothyroidism, which has not been previously described in the literature. Furthermore, it may be beneficial to evaluate for other disorders such as 45,X/46,XY mosaicism in young males with short stature and hypothyroidism if their growth does not improve once they become euthyroid. © The Author(s) 2015.

A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.

PubMed

Keskin, Melikşah; Muratoğlu Şahin, Nursel; Kurnaz, Erdal; Bayramoğlu, Elvan; Savaş Erdeve, Şenay; Aycan, Zehra; Çetinkaya, Semra

2017-03-01

The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on the 39 th week of gestation, with a birth length of 42 cm and no prior hereditary conditions of clinical significance in her family. On physical examination, her length was 67 cm [-3.6 standard deviation (SD) score], weight 7.2 kg (-2.9 SD score), and head circumference 42 cm (below 3 rd percentile). She also had numerous characteristic physical features such as a triangular face, fleshy nose tip, a long philtrum, prominent mouth and lips, pointed chin, lumbar lordosis, and prominent heels. As her growth retardation had a prenatal onset and the physical examination results were suggestive of a characteristic profile, the diagnosis of 3M syndrome was strongly considered. Genetic assessment of the patient revealed a novel homozygous p.T45Nfs*40 mutation in the OBSL1 gene. It is recommended that physicians pay further attention to this condition in the differential diagnosis of children with severe short stature.

Diagnostics of SHOX gene rearrangement in 46,XX women with idiopathic short stature.

PubMed

Mitka, Magdalena; Bednarek, Michał; Kałużewski, Bogdan

2016-01-01

The SHOX gene has been mapped at the pseudoautosomal region 1 (PAR1) of chromosomes X (Xp22.33) and Y (Yp11.32). The loss of SHOX gene functionality is assumed to be responsible for the Leri-Weill syndrome formation and the disproportionate short stature (DSS). The SHOX gene rearrangements constitute the majority of cases of gene functionality loss. Therefore, a practical application of the method, which allows for the diagnostics of the gene rearrangements, becomes a primary issue. With such an assumption, the MLPA technique (multiplex ligation - dependent probe amplification) becomes the method of choice. DNA samples were evaluated in the study by means of the MLPA method. The DNA was isolated from peripheral blood of sixty-three (63) 46,XX patients with short stature. Out of the examined patients, deletions within the SHOX gene were found in five (5) patients, and duplication at the PAR1 regulatory region of the SHOX gene in one (1) case. The obtained results confirm the opinion that the MLPA method, while enabling the diagnostics of the etiopathogenetic factor of short stature, identified in approximately 9.5% of cases, is a useful tool in the diagnostics of SHOX gene deletion and duplication. (Endokrynol Pol 2016; 67 (4): 397-402).

Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency.

PubMed

Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

2013-10-01

In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from -3.5 at baseline to -2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study.

Molecular Study of a Hoxa2 Gain-of-Function in Chondrogenesis: A Model of Idiopathic Proportionate Short Stature

PubMed Central

Deprez, Pierre M. L.; Nichane, Miloud G.; Lengelé, Benoît G.; Rezsöhazy, René; Nyssen-Behets, Catherine

2013-01-01

In a previous study using transgenic mice ectopically expressing Hoxa2 during chondrogenesis, we associated the animal phenotype to human idiopathic proportionate short stature. Our analysis showed that this overall size reduction was correlated with a negative influence of Hoxa2 at the first step of endochondral ossification. However, the molecular pathways leading to such phenotype are still unknown. Using protein immunodetection and histological techniques comparing transgenic mice to controls, we show here that the persistent expression of Hoxa2 in chondrogenic territories provokes a general down-regulation of the main factors controlling the differentiation cascade, such as Bapx1, Bmp7, Bmpr1a, Ihh, Msx1, Pax9, Sox6, Sox9 and Wnt5a. These data confirm the impairment of chondrogenic differentiation by Hoxa2 overexpression. They also show a selective effect of Hoxa2 on endochondral ossification processes since Gdf5 and Gdf10, and Bmp4 or PthrP were up-regulated and unmodified, respectively. Since Hoxa2 deregulation in mice induces a proportionate short stature phenotype mimicking human idiopathic conditions, our results give an insight into understanding proportionate short stature pathogenesis by highlighting molecular factors whose combined deregulation may be involved in such a disease. PMID:24129174

Short stature before puberty: which children should be screened for SHOX deficiency?

PubMed

Wolters, Barbara; Lass, Nina; Wunsch, Rainer; Böckmann, Beatrix; Austrup, Frank; Reinehr, Thomas

2013-01-01

We studied the prevalence of deficiency in the short stature homeobox containing gene (SHOX) in prepubertal short-statured children and analyzed the clinical and radiological signs. Screening for SHOX deficiency was performed in 449 prepubertal short-statured children (54% females, aged 4-10 years) by direct sequencing and multiplex ligation probe-dependent amplification. Children with SHOX deficiency were compared to 1:2 age- and gender-matched prepubertal children without SHOX deficiency with respect to left-hand radiographs and anthropometrics including different ratios to height and proposed scores. We identified 22 (4.9%) patients with SHOX deficiency (64% point mutations). Children with SHOX deficiency demonstrated a mesomelic shortening of extremities. Lower leg lengths but not forearm length was reduced in children <8 years with SHOX deficiency. 36% of all children and none of the children <8 years with SHOX deficiency demonstrated any typical radiologic sign. Increased sitting height-to-height ratio and decreased extremities-to-trunk ratio demonstrated the best positive and negative predictive values to identify SHOX deficiency. Screening for SHOX deficiency seems rational, especially in children with increased sitting height-to-height ratio or decreased extremities-to-trunk ratio. These criteria were also valid in young children. © 2013 S. Karger AG, Basel.

Human cranial vault thickness in a contemporary sample of 1097 autopsy cases: relation to body weight, stature, age, sex and ancestry.

PubMed

De Boer, H H Hans; Van der Merwe, A E Lida; Soerdjbalie-Maikoe, V Vidija

2016-09-01

The relation between human cranial vault thickness (CVT) and various elements of the physical anthropological biological profile is subject of ongoing discussion. Some results seem to indicate no correlation between CVT and the biological profile of the individual, whereas other results suggest that CVT measurements might be useful for identification purposes. This study assesses the correlation between CVT and body weight, stature, age, sex, and ancestry by reviewing data of 1097 forensic autopsies performed at the Netherlands Forensic Institute (NFI). In subadults (younger than 19 years of age at the time of death), all frontal, temporal, and occipital CVT measurements correlated moderately to strongly with indicators of growth (body weight, stature, and age). Neither sex nor ancestry correlated significantly with cranial thickness. In adults, body weight correlated with all CVT measurements. No meaningful correlation was found between CVT and stature or age. Females showed to have thicker frontal bones, and the occipital region was thicker in the Negroid subsample. All correlation in the adult group was weak, with the distribution of cranial thickness overlapping for a great deal between the groups. Based on these results, it was concluded that CVT generally cannot be used as an indicator for any part of the biological profile.

A Track Record on SHOX: From Basic Research to Complex Models and Therapy

PubMed Central

Marchini, Antonio; Ogata, Tsutomu

2016-01-01

SHOX deficiency is the most frequent genetic growth disorder associated with isolated and syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its varied clinical manifestations include isolated short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. In addition, SHOX deficiency contributes to the skeletal features in Turner syndrome. Causative SHOX mutations have allowed downstream pathology to be linked to defined molecular lesions. Expression levels of SHOX are tightly regulated, and almost half of the pathogenic mutations have affected enhancers. Clinical severity of SHOX deficiency varies between genders and ranges from normal stature to profound mesomelic skeletal dysplasia. Treatment options for children with SHOX deficiency are available. Two decades of research support the concept of SHOX as a transcription factor that integrates diverse aspects of bone development, growth plate biology, and apoptosis. Due to its absence in mouse, the animal models of choice have become chicken and zebrafish. These models, therefore, together with micromass cultures and primary cell lines, have been used to address SHOX function. Pathway and network analyses have identified interactors, target genes, and regulators. Here, we summarize recent data and give insight into the critical molecular and cellular functions of SHOX in the etiopathogenesis of short stature and limb development. PMID:27355317

Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.

PubMed

Lim, Han Hyuk; Kil, Hong Ryang; Koo, Sun Hoe

2017-05-09

Turner syndrome (TS), characterized by short stature and premature ovarian failure, is caused by chromosomal aberrations with total or partial loss of one of the two X chromosomes. Spontaneous puberty, menarche, and pregnancy occur in some patients depending on the abnormality of the X. Moreover, spontaneous pregnancy is uncommon (<0.5%) for TS with 45,X monosomy. Among TS patients, 45,X/47,XXX karyotype is extremely rare. Previous reports have demonstrated that TS with 45,X/47,XXX is less severe than common TS due to higher occurrence of puberty (83%), menarche (57-67%), and fertility (14%) and lower occurrence of congenital anomalies (<5%). However, TS mosaicism may not reduce the frequency of short stature. We diagnosed a 10-year-girl with TS with 45,X/47,XXX mosaicism who presented with short stature. She showed mild TS phenotype including short stature but had spontaneous puberty. Based on our case and previous reports, we expect that girls with 45,X/47,XXX mosaicism may progress through puberty normally, without estrogen therapy. Therefore, it is necessary to consider specific guidelines for clinical decisions surrounding pubertal development and fertility in TS with 45,X/47,XXX karyotype. © 2017 Wiley Periodicals, Inc.

A rare case of short stature: Say Meyer syndrome.

PubMed

Karthik, T S; Prasad, N Rajendra; Rani, P Radha; Maheshwari, Rushikesh; Reddy, P Amaresh; Chakradhar, B V S; Menon, Bindu

2013-10-01

Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

Cushing disease as possible cause of persistent growth failure despite growth hormone therapy in a small for gestational age male.

PubMed

Heneghan, MaryKathleen; Alemzadeh, Ramin

2011-12-01

Growth hormone (GH) therapy in children with small for gestational age (SGA) has been shown to be of significant therapeutic benefit. We report the case of an 11-year-old Caucasian male who developed early adrenarche, hypertension and insulin resistance on GH therapy for SGA and profound short stature (ht -5 SD). This patient demonstrated a poor response to GH therapy and developed physical and biochemical findings of insulin resistance responsive to metformin therapy. He remained hypertensive, however, and continued to have elevated serum dehydroepiandrosterone sulfate levels. Urinary free cortisol excretion was subsequently found to be elevated. The diagnosis of Cushing's disease was confirmed with inferior petrosal sinus sampling and pituitary MRI. The patient underwent partial adenohypophysectomy with resulting normalization of plasma cortisol levels and associated symptoms. Our patient's diagnosis of Cushing's disease was complicated by his past history of poor growth since birth and history of SGA. The signs of Cushing's disease did not overtly appear until GH therapy was initiated to help treat severe short stature. It is possible that the metabolic effects of GH therapy unmasked the presence of underlying Cushing's disease.

Repeated General Anesthesia in a Patient With Noonan Syndrome.

PubMed

Asahi, Yoshinao; Fujii, Ryosuke; Usui, Naoko; Kagamiuchi, Hajime; Omichi, Shiro; Kotani, Junichiro

2015-01-01

Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial anomalies, short stature, chest deformity, congenital heart diseases, and other comorbidities. The challenges faced during anesthetic management of patients with NS could be due to congenital heart diseases, hemostatic disorders, and airway anomalies. Here we describe dental treatment under general anesthesia performed for a 28-year-old man with NS. He had characteristic features of NS along with mild pulmonary valve stenosis. Dental treatment under general anesthesia was performed successfully on 13 occasions with nasotracheal intubation under curve-tipped suction catheter guidance or insertion of a reinforced laryngeal mask airway. This case suggests that for patients with NS, who might present several challenges, dental anesthesiologists should consider the extent of the patient's disorders to enable them to perform dental treatment safely under general anesthesia.

Repeated General Anesthesia in a Patient With Noonan Syndrome

PubMed Central

Asahi, Yoshinao; Fujii, Ryosuke; Usui, Naoko; Kagamiuchi, Hajime; Omichi, Shiro; Kotani, Junichiro

2015-01-01

Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial anomalies, short stature, chest deformity, congenital heart diseases, and other comorbidities. The challenges faced during anesthetic management of patients with NS could be due to congenital heart diseases, hemostatic disorders, and airway anomalies. Here we describe dental treatment under general anesthesia performed for a 28-year-old man with NS. He had characteristic features of NS along with mild pulmonary valve stenosis. Dental treatment under general anesthesia was performed successfully on 13 occasions with nasotracheal intubation under curve-tipped suction catheter guidance or insertion of a reinforced laryngeal mask airway. This case suggests that for patients with NS, who might present several challenges, dental anesthesiologists should consider the extent of the patient's disorders to enable them to perform dental treatment safely under general anesthesia. PMID:26061577

Familial hypophosphataemic rickets affecting a father and his two daughters: a case report.

PubMed

Ekpebegh, C O; Blanco-Blanco, E

2010-01-01

Hypophosphataemic rickets (HR) is a rare cause of short stature associated with limb deformities. To report the clinical and laboratory features of HR in two siblings and their father. Following the diagnosis of HR in a 4-year-old girl, her siblings and parents were screened using clinical, laboratory, and radiological parameters. Short stature, lower limb deformities, frontal bossing and hypophosphataemia were present in all three patients. Serum alkaline phosphatase (ALP) was markedly elevated in both siblings who were aged two and 11 years but only minimally raised in their 43-year-old father. While spontaneous mutation is the presumed aetiology in the father, X linked dominant inheritance is the likely cause in both daughters. Hypophosphataemic rickets should be considered in the differential diagnosis of short stature associated with limb deformities regardless of a family history of HR. Serum ALP may not be remarkably elevated when the diagnosis is made in adulthood.

Inferring demographic structure with moccasin size data from the Promontory Caves, Utah.

PubMed

Billinger, Michael; Ives, John W

2015-01-01

The moccasin assemblage Julian Steward recovered from the Promontory caves in 1930-31 provides a novel example in which material culture can be used to understand the structure of an AD thirteenth century population. Several studies shed light on the relationship between shoe size, foot size, and stature. We develop an anthropometric model for understanding the composition of the Promontory Cave population by using moccasin size as a proxy for foot size. We then predict the stature of the individual who would have worn a moccasin. Stature is closely related to age for children, subadults and adult males. Although there are predictable sex and age factors biasing moccasin discard practices, moccasin dimensions suggest a relatively large proportion of children and subadults occupied the Promontory caves. This bison and antelope hunting population appears to have thrived during its stay on Promontory Point. © 2014 Wiley Periodicals, Inc.

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.

PubMed

Menten, Björn; Buysse, Karen; Zahir, Farah; Hellemans, Jan; Hamilton, Sara J; Costa, Teresa; Fagerstrom, Carrie; Anadiotis, George; Kingsbury, Daniel; McGillivray, Barbara C; Marra, Marco A; Friedman, Jan M; Speleman, Frank; Mortier, Geert

2007-04-01

This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities.

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

PubMed

Yuan, Haiming; Meng, Zhe; Zhang, Lina; Luo, Xiangyang; Liu, Liping; Chen, Mengfan; Li, Xinwei; Zhao, Weiwei; Liang, Liyang

2016-01-01

Interstitial duplications distal to 15q13 are very rare. Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient's clinical phenotypes with those of several individuals with overlapping duplications and several candidate genes responsible for the phenotypes were identified as well. The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies.

[New approaches in the treatment of short stature].

PubMed

Zung, Amnon; Zadik, Zvi

2002-12-01

Over the past years, the efforts to improve the final height of children with short stature has yielded new modalities of therapy. New types of injection devices, mainly ready-to-use injection pens with multi-dose vials of reconstituted growth hormone (GH), have made the treatment technically easier and less stressful for the patients. A new type of slow-release GH injected once or twice a month has recently been studied. In addition, several types of synthetic GH-secretagogues were examined, with the advantage of being introduced by the oral or nasal route. The recognition of the pivotal role of estrogens in skeletal maturation and subsequent growth arrest, was the basis for the use of aromatase inhibitor in a pioneering study, with promising results. We have concluded the review with an update on the benefit of GH therapy in children with normal short stature, based on 12 studies that provided data on the final height of these children.

Stature, drive for thinness and body dissatisfaction: a study of males and females from a non clinical sample.

PubMed

Gupta, M A; Schork, N J; Dhaliwal, J S

1993-02-01

A study of 174 subjects selected from a Canadian shopping mall revealed an inverse correlation among the males but not among females between body stature and body image parameters related to dieting, body weight and shape (for example, drive for thinness, and body dissatisfaction). These correlations were independent of body weight. Among the females, there was a direct correlation between the Body Mass Index and these body image parameters. Height is generally associated with desirable looks and academic success among men and most likely has a positive effect upon body image. Therefore, males who are dissatisfied with their stature, a feature that is generally not within their control, may attempt to alter an aspect of their body that they can control (for example, weight). This finding may have important implications among males with eating disorders.

Predictors of changes in body image concerns of Chinese adolescents.

PubMed

Chen, Hong; Jackson, Todd

2009-08-01

This nine-month prospective study tested the extent to which risk factors implicated in recent accounts of body dissatisfaction predicted changes in body image concerns of adolescent boys and girls in China. A sample of 593 Chinese adolescents (217 boys, 376 girls) completed measures of weight esteem, appearance esteem and physical stature concern in addition to demographics, internalization of attractiveness ideals, negative affect, and appearance pressure, teasing, and comparison at baseline and nine-month follow-up. For girls, initial levels of social comparison, and internalized attractiveness ideals predicted decreases in body esteem over time. Time 1 negative affect contributed to changes in both appearance esteem and weight esteem for boys. Baseline level of stature concerns and reported height were the only predictors of later stature concerns within each sex. In sum, this study suggests specific factors previously implicated in Western accounts also have utility for understanding body image concerns of adolescents in China.

Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.

PubMed

Stattin, E-L; Tegner, Y; Domellöf, M; Dahl, N

2008-08-01

Familial osteochondritis dissecans (OCD) is a rare disorder characterised by disturbed chondro-skeletal development, disproportionate growth and deformation of the skeleton. We identified a five-generation family with 15 living affected members from Northern Sweden. The disorder was diagnosed with a case definition of OCD in at least one joint. Main clinical findings consisted of OCD in knees and/or hips and/or elbows, disproportionate short stature and early osteoarthritis (OA). There were no radiological indications of epiphyseal dysplasia. Anthropometric measurements of affected individuals showed short stature, a high ratio between sitting height and total height, a relatively normal arm span and head circumference. In 12 of 15 cases, onset was during late childhood or adolescence and OA had developed in seven of those patients. Our observation suggests that OA is a frequent complication in familial OCD even though the lesions appear before closure of physis.

Growth and adult height in GH-treated children with nonacquired GH deficiency and idiopathic short stature: the influence of pituitary magnetic resonance imaging findings.

PubMed

Coutant, R; Rouleau, S; Despert, F; Magontier, N; Loisel, D; Limal, J M

2001-10-01

We analyzed the final height of 146 short children with either nonacquired GH deficiency or idiopathic short stature. Our purpose was 1) to assess growth according to the pituitary magnetic resonance imaging findings in the 63 GH-treated children with GH deficiency and 2) to compare the growth of the GH-deficient patients with normal magnetic resonance imaging (n = 48) to that of 32 treated and 51 untreated children with idiopathic short stature (GH peak to provocative tests >10 microg/liter). The mean GH dose was 0.44 IU/kg.wk (0.15 mg/kg.wk), given for a mean duration of 4.6 yr. Among the GH-deficient children, 15 had hypothalamic-pituitary abnormalities (stalk agenesis), all with total GH deficiency (GH peak <5 microg/liter). They were significantly shorter and younger at the time of diagnosis than those with normal magnetic resonance imaging, had better catch-up growth (+2.7 +/- 0.9 vs. +1.3 +/- 0.8 SD score; P < 0.01), and reached greater final height (-1.1 +/- 1.0 vs. -1.7 +/- 1.0 SD score; P < 0.05). Among patients with normal magnetic resonance imaging, there was no difference in catch-up growth and final height between partial and total GH deficiencies. GH-deficient subjects with normal magnetic resonance imaging and treated and untreated patients with idiopathic short stature had comparable auxological characteristics, age at evaluation, and target height. Although they had different catch-up growth (+1.3 +/- 0.8, +0.9 +/- 0.6, and +0.7 +/- 0.9 SD score, respectively; P < 0.01, by ANOVA), these patients reached a similar final height (-1.7 +/- 1.0, -2.1 +/- 0.8, and -2.1 +/- 1.0 SD score, respectively; P = 0.13). Pituitary magnetic resonance imaging findings show the heterogeneity within the group of nonacquired GH deficiency and help to predict the response to GH treatment in these patients. The similarities in growth between the GH-deficient children with normal magnetic resonance imaging and those with idiopathic short stature suggest that the short stature in the former subjects is at least partly due to factors other than GH deficiency.

Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome.

PubMed

Haga, N; Nakamura, K; Taniguchi, K; Nakamura, S

1998-01-01

We report a girl with multiple enchondromatosis, unequal leg length, short stature, congenital scoliosis, lymphangioma, and cutaneous hemangiomata. The skeletal findings were consistent with the clinical and radiological features of dysspondyloenchondromatosis except that short stature was not apparent in the neonatal period. Dysspondyloenchondromatosis is a rare disorder, one of the several types of multiple enchondromatosis with spinal abnormalities. In previous reports of this condition the association of vascular lesions usually found in Maffucci syndrome has not been described.

[Quality of life in children, adolescents, and young adults with achondroplasia].

PubMed

Rohenkohl, A C; Bullinger, M; Quitmann, J

2015-03-01

Compared to research on short-statured adults, quality of life (QoL) of children has been rarely studied. One reason for this might be the lack of appropriate disease-specific questionnaires. The aim of this study was to analyse the quality of life in a sample of short-statured children with achondroplasia, using generic and disease-specific instruments. In addition, a comparison of patient and population norms is presented. The sample included children (8-28 years) with achondroplasia and parents of participating children (8-17 years). Quality of life was analyzed with the KIDSCREEN, the DISABKIDS and the disease-specific Quality of Life in Short Stature Youth (QoLISSY) questionnaire. In addition group differences according to clinical and sociodemographic data were analyzed within the sample and compared to available KIDSCREEN representative population data. The physical QoL was rated poorly in this sample of short-statured patients, while the emotional QoL was rated more favorably. Compared to the KIDSCREEN population norm, parents of children with achondroplasia rate the QoL lower. The QoLISSY questionnaire is a reliable tool to assess the subjective wellbeing of patients with skeletal dysplasia. The instrument can now be used clinically as a screening for patient wellbeing, as an outcome criterion in clinical research and as a psychosocial indicator in orthopedic cohort studies.

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.

PubMed

Moia, Stefania; Tessaris, Daniele; Einaudi, Silvia; de Sanctis, Luisa; Bona, Gianni; Bellone, Simonetta; Prodam, Flavia

2017-10-12

Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, patients present normal to high circulating GH levels, in presence of very low or undetectable IGF-I levels, which do not rise after rhGH treatment. We describe the case of a 3.8 years old girl with symmetrical short stature (-3.76 SDS), low IGF-1 and IGFBP-3, in presence of normal GH levels. Parents were not relatives and there was no family history of short stature. During the second day of birth, she developed severe hypoglycaemia that required glucose infusion. She presented frontal bossing and depressed nasal bridge. IGF-1 generation test showed no response, suggesting a GH resistance evidence. In the hypothesis of Laron Syndrome, we decided to perform a molecular analysis of Growth Hormone Receptor (GHR) gene. This analysis demonstrated that the patient was compound heterozygote for two missense mutations. GHR gene mutations are a well demonstrated cause of GH insensitivity. In heterozygous patients, probably the normal stature may be achieved by a compensatory mechanism of GH secretion or signalling. On the contrary, in homozygous or compound heterozygous patients these compensatory mechanisms are inadequate, and short stature may be the consequence.

Evaluation of methods for calculating maximum allowable standing height in amputees competing in Paralympic athletics.

PubMed

Connick, M J; Beckman, E; Ibusuki, T; Malone, L; Tweedy, S M

2016-11-01

The International Paralympic Committee has a maximum allowable standing height (MASH) rule that limits stature to a pre-trauma estimation. The MASH rule reduces the probability that bilateral lower limb amputees use disproportionately long prostheses in competition. Although there are several methods for estimating stature, the validity of these methods has not been compared. To identify the most appropriate method for the MASH rule, this study aimed to compare the criterion validity of estimations resulting from the current method, the Contini method, and four Canda methods (Canda-1, Canda-2, Canda-3, and Canda-4). Stature, ulna length, demispan, sitting height, thigh length, upper arm length, and forearm length measurements in 31 males and 30 females were used to calculate the respective estimation for each method. Results showed that Canda-1 (based on four anthropometric variables) produced the smallest error and best fitted the data in males and females. The current method was associated with the largest error of those tests because it increasingly overestimated height in people with smaller stature. The results suggest that the set of Canda equations provide a more valid MASH estimation in people with a range of upper limb and bilateral lower limb amputations compared with the current method. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

[Prevalence of malnutrition in Spanish schoolchildren].

PubMed

Pérez-Ríos, Mónica; Santiago-Pérez, María I; Leis, Rosaura; Malvar, Alberto; Suanzes, Jorge; Hervada, Xurxo

2017-11-01

The term malnutrition includes malnutrition due to excess or obesity, underweight as well as stunted growth. Its prevalence in a population can be estimated using anthropometric variables. The aim of this study is to estimate the prevalence of malnutrition in Galician schoolchildren aged 6 to 15years in the school year 2013-2014. A cross-sectional study was conducted on a representative sample by gender and age of the Galician population of 6 to 15years old. The prevalence of obesity, underweight, and short stature was estimated by age and gender using the reference standards proposed by the World Health Organisation. Of the total of 7,438 schoolchildren weighed and measured, 16.4% had malnutrition. The prevalence of obesity was 14.8%, underweight was 0.7%, and short stature for age was estimated at 1%. Obesity was more prevalent among boys. As regards underweight and short stature, when there were differences, prevalence was higher among girls. In Galicia, 16 out of every 100 schoolchildren aged 6 to 15years had malnutrition, with that due to excess or obesity being the most frequent. Prevalence of underweight and short stature did not exceed 1%. This data shows that primary prevention measures should be promoted at an early age to reduce malnutrition due to excess or adiposity, in particular. Copyright © 2017. Publicado por Elsevier España, S.L.U.

Tallness is associated with risk of testicular cancer: evidence for the nutrition hypothesis.

PubMed

Dieckmann, K-P; Hartmann, J T; Classen, J; Lüdde, R; Diederichs, M; Pichlmeier, U

2008-11-04

The pathogenesis of testicular germ cell tumours (GCTs) is potentially influenced by high-energy nutrition during infancy. As adult height is a proxy for childhood nutrition, we investigated the role of nutrition in GCT pathogenesis by comparing stature of patients with healthy men. In a matched case-control study, 6415 patients with GCT were compared with healthy army conscripts (1:6 matching modus) with regard to height (cm) and body mass index (BMI; kg/m(2)). Statistical analysis involved tabulation of descriptive height measures and BMI. Conditional logistic regression models were used to quantify the association of GCT with height, with odds ratios (OR) adjusted for BMI. The literature was searched for studies on stature in GCT patients. Body size is significantly associated with risk of GCT, very tall men (>195 cm) having a GCT risk of OR=3.35 (95% confidence intervals (CI): 2.88-3.90; adjusted). Short stature is protective (OR=0.798; 95% CI: 0.68-0.93). Both histologic subgroups are associated with tallness. Of 16 previous reports, 7 were confirmative, 5 had null and 4 equivocal results. The association of stature with GCT risk accords with the nutrition hypothesis of GCT. This study expands the current view of GCT tumorigenesis by suggesting that high-calorie intake in childhood promotes GCT precursors originating in utero.

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri–Weill Dyschondrosteosis

PubMed Central

Lucchetti, Laura; Prontera, Paolo; Mencarelli, Amedea; Sallicandro, Ester; Mencarelli, Annalisa; Cofini, Marta; Leonardi, Alberto; Stangoni, Gabriela; Penta, Laura; Esposito, Susanna

2018-01-01

Heterozygous mutations in the SHOX gene or in the upstream and downstream enhancer elements are associated with 2–22% of cases of idiopathic short stature (OMIM #300582) and with 60% of cases of Leri–Weill dyschondrosteosis (OMIM #127300) with which female subjects are generally more severely affected. Approximately 80–90% of SHOX pathogenic variants are deletions or duplications, and the remaining 10–20% are point mutations that primarily give rise to missense variants. The clinical interpretation of novel variants, particularly missense variants, can be challenging and can remain of uncertain significance. Here, we describe a novel missense variant (c.1044 G>T, p.Arg118Met) in a Moroccan boy with a disproportionately short stature and without any radiological traits or bone deformities and in his mother, who had a disproportionately short stature and a Madelung deformity. This variant has not been reported to date in the updated SHOX allelic variant or Human Gene Mutation Databases nor is it listed as a polymorphism in the ExAC browser, dbSNP, or 1000G. This mutation was predicted to be deleterious by three different bioinformatics tools since it modifies an amino acid in a highly conserved DNA-binding domain of the SHOX protein. Based on this evidence, the patient was treated with recombinant human growth hormone. PMID:29692759

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.

PubMed

Ross, Judith L; Kowal, Karen; Quigley, Charmian A; Blum, Werner F; Cutler, Gordon B; Crowe, Brenda; Hovanes, Karine; Elder, Frederick F; Zinn, Andrew R

2005-10-01

To evaluate the growth disorder and phenotype in prepubertal children with Leri-Weill dyschondrosteosis (LWD), a dominantly inherited skeletal dysplasia, and to compare the findings from girls with Turner syndrome (TS). We studied the auxologic and phenotypic characteristics in 34 prepubertal LWD subjects (ages 1 to 10 years; 20 girls, 14 boys) with confirmed short stature homeobox-containing gene (SHOX) abnormalities. For comparative purposes, we evaluated similar physical and growth parameters in 76 girls with TS (ages 1 to 19 years) and 24 girls with LWD (ages 1 to 15 years) by using data collected from the postmarketing observational study, GeNeSIS. In the clinic sample LWD subjects, height standard deviation score ranged from -5.5 to +0.1 (-2.3 +/- 1.3, girls and -1.8 +/- 0.6, boys). Wrist changes related to Madelung deformity were present in 18 of 34 (53%) LWD subjects. In comparing the LWD and TS populations in the GeNeSIS sample, Madelung deformity, increased carrying angle, and scoliosis were more prevalent in the LWD population, whereas high arched palate was similarly prevalent in the two populations. Short stature is common in both LWD (girls and boys) and TS (girls). Clinical clues to the diagnosis of SHOX haploinsufficiency in childhood include short stature, short limbs, wrist changes, and tibial bowing.

Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency.

PubMed

Rubio-Cabezas, Oscar; Gómez, José Luis; Gleisner, Andrea; Hattersley, Andrew T; Codner, Ethel

2016-10-01

Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes. All four had severe short stature and failed to develop secondary sexual characteristics at an appropriate age, despite some having normal body mass index. The absence of gonadal function persisted into the third decade in one patient. Upon testing, both basal and stimulated LH and FSH levels were low, with the remaining pituitary hormones within the normal range. Magnetic resonance imaging scans of the hypothalamic-pituitary axis did not reveal structural abnormalities. A diagnosis of hypogonadotropic hypogonadism was made, and replacement therapy with sex hormones was started. The high reproducibility of this novel phenotype suggests that central hypogonadism and short stature are common findings in patients with mutations in NEUROG3. Growth rate needs to be carefully monitored in these patients, who also should be routinely screened for hypogonadism when they reach the appropriate age. NEUROG3 mutations expand on the growing number of genetic causes of acquired hypogonadotropic hypogonadism.

Assessment of Skeletal Maturation in Concordance to Statural Height and Body Weight in 12-Year-Old Children - A Cross-Sectional Study.

PubMed

Krishnamoorthy, Vikram Vishwanath; Parameswaran, Ratna; Vijayalakshmi, Devaki; Khan, Nayeemullah; Nandakumar, Arani

2016-06-01

To analyse the importance of bodily characteristics of growing children and its correlation towards skeletal maturity. This further aids orthodontists in proper treatment planning. The purpose of this study was to assess the correlation between cervical vertebrae maturation, statural height and body weight as measured in 12 -year-old children. Lateral cephalograms were taken as a part of treatment records in 94 children along with their statural height and body weight. The Cervical Vertebrae Maturation Index (CVMI) was used to trace the C2, C3 and C4 vertebrae respectively and the data were then correlated to the chart provided by the Indian Council for Medical Research (ICMR). The overall sample showed a statistically significant correlation between CVMI and height (p=0.047). Girls showed significant correlation in their mean heights to the CVMI staging (p=0.012) while the boys exhibited a maximal mean height value in Cervical Stage (CS) 5 followed by CS3. There was no significant correlation between weight and CVMI. The mean CVMI stage seen in boys and girls were CS2 and CS3 respectively. There exists a definitive correlation between height and CVMI stages in growing children. Girls showed an advanced level of skeletal maturity in comparison to boys. CVMI staging should be used along with statural height and body weight when considering growth modification procedures.

Endocrinopathies, Bone Health, and Insulin Resistance in Patients with Fanconi Anemia after Hematopoietic Cell Transplantation

PubMed Central

Barnum, Jessie L.; Petryk, Anna; Zhang, Lei; DeFor, Todd E.; Baker, K. Scott; Steinberger, Julia; Nathan, Brandon; Wagner, John E.; MacMillan, Margaret L.

2017-01-01

A number of endocrinopathies have been described after hematopoietic cell transplantation (HCT), but data are limited in patients with Fanconi anemia (FA). We report several endocrine-based disorders in a cohort of 44 patients with FA after HCT compared with both 74 patients who received HCT for hematologic malignancies and with 275 healthy controls. Endocrinopathies assessed included hypothyroidism, hypogonadism, short stature, dyslipidemia, insulin resistance, abnormalities in body composition, and bone health. Most (86%) patients with FA had at least 1 endocrinopathy, with 11% having 3 or more. Hypothyroidism was seen in 57%, hypogonadism in 27%, short stature in 50%, and reduced total body and lumbar spine bone mineral density (BMD) (height adjusted Z-score < −1) in 57% and 21%, respectively. Vitamin D deficiency was seen in 71%. Short stature was associated with younger age at HCT and gonadal failure was associated with older age at HCT. Insulin resistance was associated with increased percent fat mass and increased android/gynoid ratio by dual energy X-ray absorptiometry. Hypothyroidism, short stature, and reduced total body BMD were more prevalent in patients with FA compared with patients with hematologic malignancies. We recommend an assessment before transplantation and close follow-up afterwards to ensure proper clinical management. Future studies should continue to explore the impact of HCT on endocrinopathies in FA patients. PMID:27180116

Stature and robusticity during the agricultural transition: evidence from the bioarchaeological record.

PubMed

Mummert, Amanda; Esche, Emily; Robinson, Joshua; Armelagos, George J

2011-07-01

The population explosion that followed the Neolithic revolution was initially explained by improved health experiences for agriculturalists. However, empirical studies of societies shifting subsistence from foraging to primary food production have found evidence for deteriorating health from an increase in infectious and dental disease and a rise in nutritional deficiencies. In Paleopathology at the Origins of Agriculture (Cohen and Armelagos, 1984), this trend towards declining health was observed for 19 of 21 societies undergoing the agricultural transformation. The counterintuitive increase in nutritional diseases resulted from seasonal hunger, reliance on single crops deficient in essential nutrients, crop blights, social inequalities, and trade. In this study, we examined the evidence of stature reduction in studies since 1984 to evaluate if the trend towards decreased health after agricultural transitions remains. The trend towards a decrease in adult height and a general reduction of overall health during times of subsistence change remains valid, with the majority of studies finding stature to decline as the reliance on agriculture increased. The impact of agriculture, accompanied by increasing population density and a rise in infectious disease, was observed to decrease stature in populations from across the entire globe and regardless of the temporal period during which agriculture was adopted, including Europe, Africa, the Middle East, Asia, South America, and North America. Copyright © 2011 Elsevier B.V. All rights reserved.

Changes in muscle activity and stature recovery after active rehabilitation for chronic low back pain.

PubMed

Lewis, Sandra; Holmes, Paul; Woby, Steve; Hindle, Jackie; Fowler, Neil

2014-06-01

Patients with low back pain often demonstrate elevated paraspinal muscle activity compared to asymptomatic controls. This hyperactivity has been associated with a delayed rate of stature recovery following spinal loading tasks. The aim of this study was to investigate the changes in muscle activity and stature recovery in patients with chronic low back pain following an active rehabilitation programme. The body height recovery over a 40-min unloading period was assessed via stadiometry and surface electromyograms were recorded from the paraspinal muscles during standing. The measurements were repeated after patients had attended the rehabilitation programme and again at a six-month follow-up. Analysis was based on 17 patients who completed the post-treatment analysis and 12 of these who also participated in the follow-up. By the end of the six months, patients recovered significantly more height during the unloading session than at their initial visit (ES = 1.18; P < 0.01). Greater stature recovery immediately following the programme was associated with decreased pain (r = -0.55; P = 0.01). The increased height gain after six months suggests that delayed rates of recovery are not primarily caused by disc degeneration. Muscle activity did not decrease after treatment, perhaps reflecting a period of adaptation or altered patterns of motor control. Copyright © 2014 Elsevier Ltd. All rights reserved.

Limb lengthening in short-stature patients using monolateral and circular external fixators.

PubMed

Lie, Chester W H; Chow, W

2009-08-01

To review the results of distraction osteogenesis in short-stature patients in our centre and analyse outcomes including complications. Retrospective study. University teaching hospital, Hong Kong. Eight patients with short stature (three had achondroplasia, three constitutional short stature, and two hypochondroplasia) operated on for limb lengthening using monolateral or circular external fixators between 1995 and 2006 were reviewed. The mean age at the time of surgery was 20 years (range, 9-39 years). The fixators used were either Ilizarov or Orthofix. The average gain in length per bone segment was 5.2 cm (range, 3.2-8.0 cm), and the average percentage lengthening was 21% (range, 7.9-40%). The mean time in frame was 8 months (range, 4-14 months), and the average healing index was 48 days per cm of lengthening (18-110 days per cm). Minor complications (pin tract infection and transient joint stiffness) were common, and after excluding the latter the overall complication rate was 0.6 per bone segment. In our series, limb lengthening of up to 40% of the initial length of the bone segment can be achieved without significant long-term sequelae. However, the procedures were complex and prolonged, and required a special psychological approach directed at both parents and the patients. Complications are quite common, for which patients have to be well prepared before starting the procedures.

New footprints from Laetoli (Tanzania) provide evidence for marked body size variation in early hominins

PubMed Central

Masao, Fidelis T; Ichumbaki, Elgidius B; Cherin, Marco; Barili, Angelo; Boschian, Giovanni; Iurino, Dawid A; Menconero, Sofia; Moggi-Cecchi, Jacopo; Manzi, Giorgio

2016-01-01

Laetoli is a well-known palaeontological locality in northern Tanzania whose outstanding record includes the earliest hominin footprints in the world (3.66 million years old), discovered in 1978 at Site G and attributed to Australopithecus afarensis. Here, we report hominin tracks unearthed in the new Site S at Laetoli and referred to two bipedal individuals (S1 and S2) moving on the same palaeosurface and in the same direction as the three hominins documented at Site G. The stature estimates for S1 greatly exceed those previously reconstructed for Au. afarensis from both skeletal material and footprint data. In combination with a comparative reappraisal of the Site G footprints, the evidence collected here embodies very important additions to the Pliocene record of hominin behaviour and morphology. Our results are consistent with considerable body size variation and, probably, degree of sexual dimorphism within a single species of bipedal hominins as early as 3.66 million years ago. DOI: http://dx.doi.org/10.7554/eLife.19568.001 PMID:27964778

[The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].

PubMed

Dávid, Anna; Butz, Henriett; Halász, Zita; Török, Dóra; Nyirő, Gábor; Muzsnai, Ágota; Csákváry, Violetta; Luczay, Andrea; Sallai, Ágnes; Hosszú, Éva; Felszeghy, Enikő; Tar, Attila; Szántó, Zsuzsanna; Fekete, Gy László; Kun, Imre; Patócs, Attila; Bertalan, Rita

2017-08-01

The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome. The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency. A total of 144 patients were included in the study. Multiplex Ligation-dependent Probe Amplification (MLPA) method was used to identify the SHOX gene haploinsufficiency. The relationships between clinical data (axiological parameters, skeletal disorders, dysmorphic signs) and genotype were analyzed by statistical methods. 11 (7.6%) of the 144 patients showed SHOX gene deficiency with female dominance (8/11, 81% female). The SHOX positive patients had a significantly higher BMI (in 5/11 vs. 20/133 cases, p<0.02) and presented more frequent dysmorphic signs (9/11vs 62/133, p = 0.02). Madelung deformity of the upper limbs was also significantly more frequent among the SHOX positive patients (4/11, i.e. 36%, vs. 14/133, i.e. 10%, p = 0.0066). There were no statistically significant differences between the mean age, mean height and auxological measurements (sitting height/height, arm span/height) between the two groups of patients. The occurrence of SHOX gene haploinsufficiency observed in our population corresponds to the literature data. In SHOX positive patients, in addition to short stature, the dysmorphic signs have a positive predictive value for SHOX gene alterations. However, the SHOX deletion detected in a patient with idiopathic short stature without dysmorphic signs suggest that SHOX deletion analysis can be recommended in patients with ISS. Orv Hetil. 2017; 158(34): 1351-1356.

Associations Between Body Anthropometric Measures and Severity of Carpal Tunnel Syndrome.

PubMed

Mondelli, Mauro; Curti, Stefania; Mattioli, Stefano; Aretini, Alessandro; Ginanneschi, Federica; Greco, Giuseppe; Farioli, Andrea

2016-09-01

To assess the associations between carpal tunnel syndrome (CTS) severity and selected anthropometric and obesity indexes. We performed a case-control study. Clinical and electrophysiological severity of CTS was classified as mild, moderate, or severe based on validated scales. Body and hand anthropometric characteristics were measured at the time of the electrodiagnostic study. We estimated the relative risk ratios (RRRs) of CTS severity by fitting multinomial logistic regression models adjusted by age and sex. In addition, we fitted multivariable models, including age, sex, wrist ratio, hand ratio, body mass index (BMI), and waist/stature ratio. Electromyography laboratories. Consecutive patients (N=1087), those with CTS (n=340) and those without CTS (n=747), were enrolled. Not applicable. Associations between CTS severity and selected anthropometric and obesity indexes. We observed associations between many anthropometric indexes and CTS severity. Among obesity indexes, the waist/stature ratio, and among hand anthropometric indexes, the wrist/palm ratio, showed the highest RRRs for the clinical and electrophysiological severity scales. The RRRs of severe CTS (adjusted for age and sex) for the wrist/palm ratio were 3.5 for the clinical scale and 2.4 for the electrophysiological scale. The RRRs of severe CTS for the waist/stature ratio were 2.3 for the clinical scale and 2.0 for the electrophysiological scale. In the multivariable models, both BMI and the waist/stature ratio were associated with the outcomes. Different configurations of the body and, in particular, the hand and wrist system may influence the occurrence and severity of CTS. Multiple obesity indexes, possibly including the waist/stature ratio, should be considered when investigating the association between body composition and CTS. Future studies should determine whether in obese subjects with CTS the weight and waist circumference loss produces an improvement in CTS symptoms and recovery of distal conduction velocity of the median nerve. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Anthropometry of World-Class Elite Handball Players According to the Playing Position: Reports From Men's Handball World Championship 2013.

PubMed

Ghobadi, Hamid; Rajabi, Hamid; Farzad, Babak; Bayati, Mahdi; Jeffreys, Ian

2013-12-18

Identifying the anthropometric measures of successful and less successful handball players may be helpful in developing a talent identification and development model, allowing for the determination of key physical capacities required for elite performance. The purpose of the study was to describe the anthropometric characteristics, including age, standing stature, body mass and body mass index (BMI) in handball players who participated in the 2013 Men's Handball World Championships. Secondly, the objective was to identify the possible differences in these parameters in terms of individual playing positions (goalkeeper, back, center back, wing, line player). Rosters with handball player's age, standing stature, and body mass were obtained from the International Handball Federation website. The research material included 409 handball players (24 teams). National teams were organized by their ranks and sub-grouped using their continents and playing positions. The results of the analyses of variance demonstrated significant differences in age (F=2.30; p=0.044; Partial ŋ2=0.028), standing stature (F=14.02; p=0.0001; Partial ŋ2=0.148), and body mass (F=5.88; p=0.0001; Partial ŋ2=0.068) among the groups (G1-G6). Players in G1 had the highest standing stature and body mass, while players in G6 had the lowest age and body mass values. The backs and line players were the tallest. In addition, the measurement of body mass showed that the line players had the highest body mass and BMI values. In conclusion, this study presented anthropometric data that differentiated levels of success in male handball teams playing in the 2013 world championships. This information should serve as a reference for the average standing stature, body mass, and BMI of handball players for particular positions at the professional level.

Anthropometry of World-Class Elite Handball Players According to the Playing Position: Reports From Men’s Handball World Championship 2013

PubMed Central

Ghobadi, Hamid; Rajabi, Hamid; Farzad, Babak; Bayati, Mahdi; Jeffreys, Ian

2013-01-01

Identifying the anthropometric measures of successful and less successful handball players may be helpful in developing a talent identification and development model, allowing for the determination of key physical capacities required for elite performance. The purpose of the study was to describe the anthropometric characteristics, including age, standing stature, body mass and body mass index (BMI) in handball players who participated in the 2013 Men’s Handball World Championships. Secondly, the objective was to identify the possible differences in these parameters in terms of individual playing positions (goalkeeper, back, center back, wing, line player). Rosters with handball player’s age, standing stature, and body mass were obtained from the International Handball Federation website. The research material included 409 handball players (24 teams). National teams were organized by their ranks and sub-grouped using their continents and playing positions. The results of the analyses of variance demonstrated significant differences in age (F=2.30; p=0.044; Partial ŋ2=0.028), standing stature (F=14.02; p=0.0001; Partial ŋ2=0.148), and body mass (F=5.88; p=0.0001; Partial ŋ2=0.068) among the groups (G1–G6). Players in G1 had the highest standing stature and body mass, while players in G6 had the lowest age and body mass values. The backs and line players were the tallest. In addition, the measurement of body mass showed that the line players had the highest body mass and BMI values. In conclusion, this study presented anthropometric data that differentiated levels of success in male handball teams playing in the 2013 world championships. This information should serve as a reference for the average standing stature, body mass, and BMI of handball players for particular positions at the professional level. PMID:24511357

Skeletal Maturation, Body Size, and Motor Coordination in Youth 11-14 Years.

PubMed

Freitas, Duarte Luís; Lausen, Berthold; Maia, José Antonio Ribeiro; Gouveia, Élvio Rúbio; Thomis, Martine; Lefevre, Johan; Silva, Ricardo Dinis; Malina, Robert M

2016-06-01

The objective of this study is to estimate the relative contribution of biological maturation to variance in the motor coordination (MC) among youth and to explore gender differences in the associations. Skeletal maturation (Tanner-Whitehouse 3), stature, body mass, and MC (Körperkoordinationstest für Kinder) were assessed in 613 youths, 284 boys and 329 girls 11-14 yr of age. Standardized residuals of skeletal age on chronological age were used as the estimate of skeletal maturity status independent of chronological age. Hierarchical multiple regression analyses were used to analyse associations between skeletal maturity status and MC. Skeletal maturity status by itself, i.e., standardized residuals of skeletal age on chronological age (step 3) explained a maximum of 8.1% of the variance in MC in boys (ΔR3 in the range of 0.0%-8.1%) and 2.8% of the variance in girls (ΔR3 in the range of 0.0%-2.8%), after controlling for stature, body mass and interactions of the standardized residuals of skeletal age on chronological age with stature and body mass. Corresponding percentages for the interactions of the standardized residuals of skeletal age and stature and body mass, after adjusting for stature and body mass (step 2) were 8.7% in boys (ΔR2 in the range of 0.3%-8.7%) and 7.1% in girls (ΔR2 in the range of 0.1%-7.1%). Chow tests suggested structural changes in β-coefficients in the four MC tests among boys and girls, 12-13 yr. The percentage of variance in the four MC tests explained by skeletal maturation was relatively small, but the relationships differed between boys and girls. By inference, other factors, e.g., neuromuscular maturation, specific instruction and practice, sport participation, and others may influence MC at these ages.

[Surgical treatment of short stature of different etiology by the Ilizarov method].

PubMed

Koczewski, Paweł; Shadi, Milud

2007-01-01

To evaluate the results of surgical short stature treatment with distraction osteogenesis using Ilizarov apparatus. Since 1996 sixteen patients were treated surgically because of short stature (11 male and 5 female) at the age of 9 to 29 years (mean 15.2). The cause of short stature in 6 patients was achondroplasia, 2 - Ellis van Creveld, 2 - Ollier disease, 1 - spondylometaphyseal dysplasia, 1 - hypothyroidism, 1 - pseudoachondroplasia and constitutional short stature - in other 3 patients. The pre-operative height ranged between 103 cm to 155 cm (mean 125). 12 patients were treated by the crossing method, means in one stage lengthening of the femur and the tibia of the contralateral limb. In 4 cases lengthening and improvement of body proportion was achieved by lower leg lengthening only (one of them lengthened twice). In 9 cases treated with the crossing method complete procedure was finished, in other 3 - only the first stage. Results In all patients the planed segmental lengthening was achieved except one tibial segment in the most older patient. Achieved height increase ranged from 8 to 20 cm (mean 13.8), on femur level 6 to 10 cm (mean 8.3) while on tibia level 2 to 10.5 cm (mean 7.3). The lengthening index for the single segment ranged from 0.6 to 4.7 months/cm (mean 1.5). Severe limitation of knee joint range of motion (up to 50 degrees) needs quadriceps plasty in one case. Residual valgus deformity of the tibia in one case with Ellis van Creveld needs corrective osteotomy. Abnormal bony re-generate of the tibia in the oldest patient did not allows achieving the planed lengthening and leads to increasing the lengthening index up to 3 times. Increasing the height with Ilizarov method is effective however the treatment time is long, requiring strict patients cooperation. The risk of complications should makes the qualification to this treatment careful and precise.

Short-term effect of superficial heat treatment on paraspinal muscle activity, stature recovery, and psychological factors in patients with chronic low back pain.

PubMed

Lewis, Sandra E; Holmes, Paul S; Woby, Steve R; Hindle, Jackie; Fowler, Neil E

2012-02-01

To test the hypothesis that patients with chronic low back pain (CLBP) would have reduced paraspinal muscle activity when wearing a heat wrap and that this would be associated with increased stature recovery and short-term improvements in psychological factors. A within-subject repeated-measures design. Muscle activity and stature recovery were assessed before and after a 40-minute unloading period, both without a heat wrap and after 2 hours of wear. Questionnaires were completed after both sessions. Hospital physiotherapy department. Patients with CLBP (n=24; age, 48.0±9.0 y; height, 166.6±7.3 cm; body mass, 80.2±12.9 kg) and asymptomatic participants (n=11; age, 47.9±15.4 y; height, 168.7±11.6 cm; body mass, 69.3±13.1 kg) took part in the investigation. Patients on the waiting list for 2 physiotherapist-led rehabilitation programs, and those who had attended the programs during the previous 2 years, were invited to participate. Superficial heat wrap. Paraspinal muscle activity, stature recovery over a 40-minute unloading period, pain, disability, and psychological factors. For the CLBP patients only, the heat wrap was associated with a reduction in nonnormalized muscle activity and a positive short-term effect on self-report of disability, pain-related anxiety, catastrophizing, and self-efficacy. Changes in muscle activity were correlated with changes in stature recovery, and both were also correlated to changes in psychological factors. Use of the heat wrap was associated with a decrease in muscle activity and a short-term improvement in certain aspects of well-being for the CLBP patients. The results confirm the link between the biomechanical and psychological outcome measures. Copyright © 2012 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Relation of Stature to Outcomes in Korean Patients Undergoing Primary Percutaneous Coronary Intervention for Acute ST-Elevation Myocardial Infarction (from the INTERSTELLAR Registry).

PubMed

Moon, Jeonggeun; Suh, Jon; Oh, Pyung Chun; Lee, Kyounghoon; Park, Hyun Woo; Jang, Ho-Jun; Kim, Tae-Hoon; Park, Sang-Don; Kwon, Sung Woo; Kang, Woong Chol

2016-07-15

Although epidemiologic studies have shown the impact of height on occurrence and/or prognosis of cardiovascular diseases, the underlying mechanism is unclear. In addition, the relation in patients with ST-segment elevation myocardial infarction (STEMI) who underwent primary percutaneous coronary intervention (PCI) remains unknown. We sought to assess the influence of height on outcomes of patients with acute STEMI undergoing primary PCI and to provide a pathophysiological explanation. All 1,490 patients with STEMI undergoing primary PCI were analyzed. Major adverse cardiac and cerebrovascular events (MACCE) were defined as all-cause mortality, nonfatal myocardial infarction, nonfatal stroke, and unplanned hospitalization for heart failure (HF). Patients were divided into (1) MACCE (+) versus MACCE (-) and (2) first- to third-tertile groups according to height. MACCE (+) group was shorter than MACCE (-) group (164 ± 8 vs 166 ± 8 cm, p = 0.012). Prognostic impact of short stature was significant in older (≥70 years) male patients even after adjusting for co-morbidities (hazard ratio 0.951, 95% confidence interval 0.912 to 0.991, p = 0.017). The first-tertile group showed the worst MACCE-free survival (p = 0.035), and most cases of MACCE were HF (n, 17 [3%] vs 6 [1%] vs 2 [0%], p = 0.004). On post-PCI echocardiography, left atrial volume and early diastolic mitral velocity to early diastolic mitral annulus velocity ratio showed an inverse relation with height (p <0.001 for all) despite similar left ventricular ejection fraction. In conclusion, short stature is associated with occurrence of HF after primary PCI for STEMI, and its influence is prominent in aged male patients presumably for its correlation with diastolic dysfunction. Copyright © 2016 Elsevier Inc. All rights reserved.

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

PubMed

Mumtaz, Sara; Yıldız, Esra; Jabeen, Saliha; Khan, Amjad; Tolun, Aslıhan; Malik, Sajid

2015-12-01

Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. © 2015 Wiley Periodicals, Inc.

Association between genetic determinants of peak height velocity during puberty and predisposition to adolescent idiopathic scoliosis.

PubMed

Mao, Saihu; Xu, Leilei; Zhu, Zezhang; Qian, Bangping; Qiao, Jun; Yi, Long; Qiu, Yong

2013-05-20

An association study to comprehensively clarify variations of genetic determinants of peak height velocity (PHV) during puberty in adolescent idiopathic scoliosis (AIS). To investigate whether the genetic determinants of timing and magnitude of PHV during puberty are associated with the susceptibility or curve progression of the female patients with AIS. An involvement of abnormal pubertal growth pattern in the etiopathogenesis of AIS has been implicated in previous studies. However, there is no clear consensus on the anthropometric variations of stature or growth rate. The recent advance in the longitudinally identified genetic determinants of PHV offers new opportunities to facilitate analysis of the association of pubertal growth with the susceptibility or curve severity of AIS. A gene-based association study was conducted using 9 single nucleotide polymorphisms (SNPs) in or near SOCS2, SF3B4/SV2A, C17orf67, CABLES1, DOT1L, CDK6, C6orf106, and LIN28B with confirmed association with PHV, peak growth age, or adult height. A total of 500 patients with AIS and 494 age-matched healthy controls were genotyped using the PCR-based Invader assay. Case-control study and case-only study were performed to define the contribution of the 9 SNPs to predisposition and curve severity of AIS. Strong associations between rs12459350 in DOT1L, rs4794665 in C17orf67, and susceptibility of AIS were found, with the PHV increasing allele G of rs12459350 and PHV/adult height increasing allele A of rs4794665 both being significant predisposition alleles of AIS (P = 0.001 for rs12459350, odds ratio = 1.16, 95% confidence interval = 1.06-1.27; P = 0.006 for rs4794665, odd ratio = 1.33, 95% confidence interval = 1.09-1.62). None of the genotyped SNPs was associated with curve severity in patients with AIS. Polymorphisms of the rs4794665 in C17orf67 and rs12459350 in DOT1L were associated with combined predisposition to AIS susceptibility and higher pubertal PHV, which strongly mirrored the anthropometric findings of taller pubertal stature and accelerated growth rate described in AIS.

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

PubMed Central

Barber, John C K; Hall, Victoria; Maloney, Viv K; Huang, Shuwen; Roberts, Angharad M; Brady, Angela F; Foulds, Nicki; Bewes, Beverley; Volleth, Marianne; Liehr, Thomas; Mehnert, Karl; Bateman, Mark; White, Helen

2013-01-01

Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of 16p11.2–p12.2 from microscopically similar euchromatic variants of 16p11.2. Patient 1 was a girl of 18 with autism, moderate intellectual disability, behavioural difficulties, dysmorphic features and a 7.71-Mb (megabase pair) duplication (16:21 521 005–29 233 146). Patient 2 had a 7.81-Mb duplication (16:21 382 561–29 191 527), speech delay and obsessional behaviour as a boy and, as an adult, short stature, macrocephaly and mild dysmorphism. The duplications contain 65 coding genes of which Polo-like kinase 1 (PLK1) has the highest likelihood of being haploinsufficient and, by implication, a triplosensitive gene. An additional 1.11-Mb CNV of 10q11.21 in Patient 1 was a possible modifier containing the G-protein-regulated inducer of neurite growth 2 (GPRIN2) gene. In contrast, the euchromatic variants in Patients 3 and 4 were amplifications from a 945-kb region containing non-functional immunoglobulin heavy chain (IGHV), hect domain pseudogene (HERC2P4) and TP53-inducible target gene 3 (TP53TG3) loci in proximal 16p11.2 (16:31 953 353–32 898 635). Paralogous pyrosequencing gave a total copy number of 3–8 in controls and 8 to >10 in Patients 3 and 4. The 16p11.2–p12.2 duplication syndrome is a recurrent genomic disorder with a variable phenotype including developmental delay, dysmorphic features, mild to severe intellectual disability, autism, obsessive or stereotyped behaviour, short stature and anomalies of the hands and fingers. It is important to differentiate pathogenic 16p11.2–p12.2 duplications from harmless, microscopically similar euchromatic variants of proximal 16p11.2, especially at prenatal diagnosis. PMID:22828807

Psychological and emotional development, intellectual capabilities, and body image in short normal children.

PubMed

Molinari, E; Sartori, A; Ceccarelli, A; Marchi, S

2002-04-01

It is well established that children with short stature frequently have problems in cognitive development, personality, self-esteem and social relations. This is partly due to the fact that many parents view them as more vulnerable than other children of normal stature and do not allow them to face the normal experiences that correspond to their actual age. The aim of the present study was to assess, through the administration of appropriate psychological tools, a series of psychological and cognitive characteristics [i.e. anxiety, depression, good adjustment, social functioning, feeling of guilt, interpersonal relationship, intelligence quotient (IQ)], as well as variables linked to development of body image, in a group of children suffering from normal growth variants [familial short stature (FSS), no. 10, 4 males/6 females; with constitutional growth delay (CGD), no. 4,4 males; height standard deviation score (HSDS) ranging between -2.4 and -1.9] and in a control group children of normal stature (HSDS between -0.1 and +0.1). Children with short stature significantly differed from normal statured controls as far as Colored Progressive Matrices (CPMs, centiles), IQ (IQ, obtained using the Goodenough test), "Good Adjustment" (Draw-a-Person index, DAP), "Feelings of Guilt" (DAP index), "Height" (as emerges from drawings of the body) are concerned. Significant relationships were found between the height of the subjects (in centiles) and cognitive skills, measured both using CPMs (r=0.408; p=0.017) and Draw-a-Man (DAM) (r=0.359; p=0.037) and between height and feelings of guilt (r=0.325; p=0.027), measured using DAP. CPM scores correlated positively with the "Good Adjustment" index of DAP (r=0.354; p=0.05) and negatively with Children's Depression Inventory (CDI) (r=-0.609; p=0.01), "School Anxiety" index (r=-0.427; p=0.05) and "Total Anxiety" index (r=-0.436; p=0.05) of the Anxiety Scale Questionnaire for the Age of Development, and with 2 indices of DAP, namely, "Feelings of Guilt" (r=-0.461; p=0.01) and "Interpersonal Relationships (Difficulty in Establishing)" (r=-0.455; p=0.01). A significant positive correlation was found between the height of the subject and both the measurement of the "Body of Drawing 3" (r=0.450, p=0.01) and the measurement of the "Body of Drawing 4" (r=0.461, p=0.01), as well as the with the "Total Height of Drawing 4" (r=0.464, p=0.01). Higher indices for anxiety, depression, feelings of guilt and difficulty in establishing interpersonal relationships and lower indices for good adjustment were found in children with CGD as compared to subjects with FSS or normal statured children. Although further additional studies on larger samples are needed to confirm these preliminary observations, the present study underlines the importance of psychological support also during the growth and development in short normal children.

The biorhythm of human skeletal growth.

PubMed

Mahoney, Patrick; Miszkiewicz, Justyna J; Chapple, Simon; Le Luyer, Mona; Schlecht, Stephen H; Stewart, Tahlia J; Griffiths, Richard A; Deter, Chris; Guatelli-Steinberg, Debbie

2018-01-01

Evidence of a periodic biorhythm is retained in tooth enamel in the form of Retzius lines. The periodicity of Retzius lines (RP) correlates with body mass and the scheduling of life history events when compared between some mammalian species. The correlation has led to the development of the inter-specific Havers-Halberg oscillation (HHO) hypothesis, which holds great potential for studying aspects of a fossil species biology from teeth. Yet, our understanding of if, or how, the HHO relates to human skeletal growth is limited. The goal here is to explore associations between the biorhythm and two hard tissues that form at different times during human ontogeny, within the context of the HHO. First, we investigate the relationship of RP to permanent molar enamel thickness and the underlying daily rate that ameloblasts secrete enamel during childhood. Following this, we develop preliminary research conducted on small samples of adult human bone by testing associations between RP, adult femoral length (as a proxy for attained adult stature) and cortical osteocyte lacunae density (as a proxy for the rate of osteocyte proliferation). Results reveal RP is positively correlated with enamel thickness, negatively correlated with femoral length, but weakly associated with the rate of enamel secretion and osteocyte proliferation. These new data imply that a slower biorhythm predicts thicker enamel for children but shorter stature for adults. Our results develop the intra-specific HHO hypothesis suggesting that there is a common underlying systemic biorhythm that has a role in the final products of human enamel and bone growth. © 2017 Anatomical Society.

Stature estimation and formulation of based on ulna length in Kurdish racial subgroup.

PubMed

Ghanbaril, Kimia; Nazari, Ali Reza; Ghanbari, Ali; Chehrei, Shima

2016-01-01

Measuring stature is useful for forensic and anthropometrical sciences. The present study was con- ducted to calculate the stature from ulna length among Kurdish racial subgroup living in Iran. In this study, 50 females aged 19-24 were recruited. The ulna length of subjects was taken indepen- dently on left and right sides using a digital sliding caliper. The height was measured between vertex and floor. The height (Y) was also estimated by linear regression formulas from the length of right (X1) or left side ulna (X2). For right side, Y1 = 59.48 + 4.005 X1 ± 4.09295 (R=0.753); for left side, Y2 = 63.44 +3.887 X2 ± 4.24106 (R=0.731). The derived formulae are population specific and are designed for use in forensic and anthropometric skeletal analysis of Kurdish racial subgroup. These data provide a scientific basis for further investigations on racial subgroups living in Iran.

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

PubMed Central

Fukami, Maki; Seki, Atsuhito; Ogata, Tsutomu

2016-01-01

SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP,Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy require confirmation. Future challenges in SHOX research include elucidating its precise function in the developing limbs, identifying additional cis-acting enhancers, and determining optimal therapeutic strategies for patients. PMID:27194967

Hyperphagic short stature: A case report and review of literature

PubMed Central

Jagtap, Varsha S.; Sarathi, Vijaya; Lila, Anurag R.; Bukan, Amol P.; Bandgar, Tushar; Menon, Padmavathy; Shah, Nalini S.

2012-01-01

A 5½-year-old adopted girl was referred to us in view of short stature. After ruling out systemic illness, she was evaluated for growth hormone deficiency (GHD) by stimulation tests. The peak value was 3.47 ng/ml. She was then started on growth hormone (GH). At the end of 6 months of GH therapy, her height velocity was only 3 cm/year. There was a lack of attachment between the mother and the child. She had history of hyperphagia, stealing, and hoarding food. Psychiatry consultation confirmed that the child had appetite disorder, and hence was diagnosed as hyperphagic short stature (HSS). The girl and her parents are undergoing psychiatric therapy for the same. Psychosocial dwarfism seems to originate from serious disturbances in the mother–child relationship. These children mimic patients with GHD, but have poor response to GH therapy. This case underscores the importance of social environment in the growth of the individual. PMID:22837929

Heel-ball (HB) index: sexual dimorphism of a new index from foot dimensions.

PubMed

Krishan, Kewal; Kanchan, Tanuj; Passi, Neelam; DiMaggio, John A

2012-01-01

The present research is aimed to introduce Heel-ball (HB) index from foot dimensions and determine whether this index exhibits sexual dimorphism. The study was conducted on a sample of 303 North Indian individuals (154 men, and 149 women) aged between 13 and 18 years. The stature, body weight, foot breadth at the ball (BBAL), and foot breadth at heel (BHEL) were measured. The HB index was derived by the formula BHEL × 100/BBAL. Although the mean HB index was larger in women in both feet it showed statistically significant sex differences in the right foot only. The study shows that while the foot dimensions show a positive correlation with stature and weight, the HB index is independent of the stature and weight of an individual. This novel index (HB index) may be utilized in sex determination when a part of the foot is brought for medico-legal investigation. © 2011 American Academy of Forensic Sciences.

An experimental investigation on the requirement of roof height and sill width for car ingress and egress.

PubMed

Causse, Julien; Wang, Xuguang; Denninger, Lisa

2012-01-01

This study aimed at experimentally investigating the influence of roof height and sill width on car ingress/egress movements. The first uncomfortable (Ht1) and the lowest acceptable (Ht2) roof heights were obtained from 26 participants of three different stature groups thanks to a multi-adjustable vehicle mock-up. Both Ht1 and Ht2 were affected neither by stature nor by vehicle type. Only a difference of 45 mm between Ht1 and Ht2 was observed. Tall volunteers more flexed the trunk and neck than short persons thanks to a larger space available around the seat when the head passing under the roof. The vehicle type had almost no effect on upper body posture. The roof height only affected neck flexion. The sill width mainly imposed a lateral translation. Results demonstrated that an appropriate roof height should be determined carefully. A small change of 45 mm in roof height may lead to an unacceptable situation. The present study experimentally investigated the effects of roof height and sill width on car ingress and egress movements. Short females required almost the same roof height as tall males due to smaller space around the seat. The results would help to optimise car dimensions for improving car accessibility.

Growth measures among preschool-age Inuit children living in Canada and Greenland.

PubMed

Galloway, Tracey; Niclasen, Birgit V L; Muckle, Gina; Young, Kue; Egeland, Grace M

2012-12-01

The present study reports findings from a study of preschool-age Inuit children living in the Arctic regions of Canada and Greenland. We compare stature and obesity measures using cutoffs from the Centers for Disease Control and the International Obesity Task Force references. The sample is comprised of 1121 Inuit children (554 boys and 567 girls) aged 3-5 years living in Nunavut (n=376) and Nunavik (n=87), Canada, in the capital city of Nuuk, Greenland (n=86), and in Greenland's remaining towns and villages (n=572). Greenland Inuit children were significantly taller than their Canadian counterparts, with greatest height and weight observed among children from Nuuk. Overall prevalence of stunting was low with the three cutoffs yielding similar values for height-for-age z-scores. Obesity prevalence was higher among Canadian Inuit children than their Greenland counterparts. Inuit children have stature values consistent with those of the Centers for Disease Control reference and low prevalence of stunting, though geographic variability in mean stature values between Canadian and Greenlandic samples likely reflects differences in both socioeconomic status and genetic admixture. Obesity prevalence is high among both Canadian and Greenland Inuit preschoolers, with children living in the city of Nuuk exhibiting lower obesity prevalence than children living in either Nunavut or Nunavik, Canada or Greenland's towns and villages. Varying obesity prevalence may reflect varying degrees of food security in remote locations as well as the influence of stature and sitting height which have not been well studied in young Inuit children.

Patient, physician, and consumer drivers: referrals for short stature and access to specialty drugs.

PubMed

Cuttler, Leona; Marinova, Detelina; Mercer, Mary Beth; Connors, Alfred; Meehan, Rebecca; Silvers, J B

2009-08-01

Candidates for specialty drugs, the fastest growing and costliest pharmaceuticals, typically originate with primary care referrals. However, little is known about what drives such referrals-especially for large populations such as short, otherwise normal children (idiopathic short stature). Recent expanded approval of growth hormone (GH) makes more than 585,000 US children eligible for such treatment, potentially costing over $11 billion/y. To quantify the relative impact of patient physiological indicators, physician characteristics, and consumer preferences on referrals to endocrinologists (and potential access to GH) for short children, a national study of 1268 randomly selected US pediatricians was conducted, based on a full factorial experimental design in a structured survey. While patient indicators (height, growth pattern) influenced referrals (P < 0.001), consumer drivers (family concern) and physician attitudes had almost as great an impact-especially for children with less severe growth impairment (P < 0.001). Physician belief that short stature impairs emotional well-being and physician characteristics (female, older, shorter, beliefs about drug company information) increased referrals (P < 0.03-0.001)-independent of growth parameters. Referral recommendations that create the pool of candidates for the specialty drug GH are heavily swayed by physician characteristics and consumer preferences, particularly in the absence of compelling physiological evidence. This makes most of children with short stature strikingly susceptible to nonphysiological influences on referrals that render them candidates for this specialty drug. Only 1 additional referral per US pediatrician would likely increase GH costs by over $100 million/y.

Growth hormone treatment for childhood short stature and risk of stroke in early adulthood.

PubMed

Poidvin, Amélie; Touzé, Emmanuel; Ecosse, Emmanuel; Landier, Fabienne; Béjot, Yannick; Giroud, Maurice; Rothwell, Peter M; Carel, Jean-Claude; Coste, Joël

2014-08-26

We investigated the incidence of stroke and stroke subtypes in a population-based cohort of patients in France treated with growth hormone (GH) for short stature in childhood. Adult morbidity data were obtained in 2008-2010 for 6,874 children with idiopathic isolated GH deficiency or short stature who started GH treatment between 1985 and 1996. Cerebrovascular events were validated using medical reports and imaging data and classified according to standard definitions of subarachnoid hemorrhage, intracerebral hemorrhage, and ischemic stroke. Case ascertainment completeness was estimated with capture-recapture methods. The incidence of stroke and of stroke subtypes was calculated and compared with population values extracted from registries in Dijon and Oxford, between 2000 and 2012. Using both Dijon and Oxford population-based registries as references, there was a significantly higher risk of stroke among patients treated with GH in childhood. The excess risk of stroke was mainly attributable to a very substantially and significantly higher risk of hemorrhagic stroke (standardized incidence ratio from 3.5 to 7.0 according to the registry rates considered, and accounting or not accounting for missed cases), and particularly subarachnoid hemorrhage (standardized incidence ratio from 5.7 to 9.3). We report a strong relationship between hemorrhagic stroke and GH treatment in childhood for isolated growth hormone deficiency or childhood short stature. Patients treated with GH worldwide should be advised about this association and further studies should evaluate the potentially causal role of GH treatment in these findings. © 2014 American Academy of Neurology.

Born Small for Gestational Age and Poor School Performance - How Small Is Too Small?

PubMed

Lindström, Linda; Wikström, Anna-Karin; Bergman, Eva; Lundgren, Maria

2017-01-01

To assess the relationship between severity of small for gestational age (SGA) and the risk of poor school performance, and to investigate whether adult stature modifies this risk. 1,088,980 Swedish children born at term between 1973 and 1988 were categorized into severe SGA (less than -3 standard deviations (SD) of expected birth weight), moderate SGA (-2.01 to -3 SD), mild SGA (-1.01 to -2 SD), and appropriate for gestational age (-1 to 0.99 SD). The risk of poor school performance at the time of graduation from compulsory school (grades <10th percentile) was calculated using unconditional logistic regression models and adjusted for socio-economic factors. In a sub-analysis, we stratified boys by adult stature, and adjusted for maternal but not paternal height. All SGA groups were significantly associated with an increased risk of poor school performance, with adjusted odds ratios and 95% confidence intervals ranging from 1.85 (1.65-2.07) for severe SGA to 1.25 (1.22-1.28) for mild SGA. In the sub-analysis, all birth weight groups were associated with an increased risk of poor school performance among boys with short stature compared to those with non-short stature. Mild SGA is associated with a significantly increased risk of poor school performance, and the risk increases with severity of SGA. Further, this risk diminishes after adequate catch-up growth. © 2017 S. Karger AG, Basel.

Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency

PubMed Central

Rubio-Cabezas, Oscar; Gómez, José Luis; Gleisner, Andrea; Hattersley, Andrew T.

2016-01-01

Context: Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. Case Description: Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes. All four had severe short stature and failed to develop secondary sexual characteristics at an appropriate age, despite some having normal body mass index. The absence of gonadal function persisted into the third decade in one patient. Upon testing, both basal and stimulated LH and FSH levels were low, with the remaining pituitary hormones within the normal range. Magnetic resonance imaging scans of the hypothalamic-pituitary axis did not reveal structural abnormalities. A diagnosis of hypogonadotropic hypogonadism was made, and replacement therapy with sex hormones was started. Conclusions: The high reproducibility of this novel phenotype suggests that central hypogonadism and short stature are common findings in patients with mutations in NEUROG3. Growth rate needs to be carefully monitored in these patients, who also should be routinely screened for hypogonadism when they reach the appropriate age. NEUROG3 mutations expand on the growing number of genetic causes of acquired hypogonadotropic hypogonadism. PMID:27533310

Prediction of adult height by Tanner-Whitehouse method in young Caucasian male athletes.

PubMed

Ostojic, S M

2013-04-01

Although the accuracy of final height prediction using skeletal age development has been confirmed in many studies for children treated for congenital primary hypothyroidism, short normal children, constitutionally tall children, no studies compared the predicted adult height at young age with final stature in athletic population. In this study, the intention was to investigate to what extent the Tanner-Whitehouse (TW) method is adequate for prediction of final stature in young Caucasian male athletes. Prospective observational study. Plain radiographs of the left hand and wrist were obtained from 477 athletic children (ranging in age from 8.0 to 17.9 years) who came to the outpatient clinic between 2000 and 2011 for adult height estimation, with no orthopedic trauma suspected. Adult height was estimated using bone age rates according to TW method. Height was measured both at baseline and follow-up (at the age of 19 years). No significant difference was found between the estimated adult height (184.9 ± 9.7 cm) and final stature (185.6 ± 9.6 cm) [95% confidence interval (CI) 1.61-3.01, P = 0.55]. The relationship between estimated and final adult height was high (r = 0.96). Bland-Altman analysis confirmed that the 95% of differences between estimated adult height and final stature lie between limits of agreement (mean ± 2 SD) (-5.84 and 4.52 cm). TW method is an accurate method of predicting adult height in male normal-growing athletic boys.

Parental perception of health-related quality of life in children and adolescents with short stature: literature review and introduction of the parent-reported QoLISSY instrument.

PubMed

Quitmann, Julia; Rohenkohl, Anja; Bullinger, Monika; Chaplin, John E; Herdman, Michael; Sanz, Dolores; Mimoun, Emmanuelle; Feigerlova, Eva; DeBusk, Kendra; Power, Michael; Wollmann, Hartmut; Pleil, Andreas

2013-12-01

Health-related quality of life (HrQoL) of the child diagnosed with short stature is an important outcome to be assessed both from the patient as well as from the parental perspective. The objective of this study was to review the literature on parent-reported HrQoL and to subsequently develop and psychometrically test the parent-reported version of the Quality of Life in Short Stature Youth (QoLISSY) instrument for use in clinical and epidemiologic research. A review of the literature on parental assessment of child HrQoL via PUBMED was followed by a psychometric analysis of data collected within the European QoLISSY study, in which 686 eligible parents of short statured children/adolescents (aged 4-18 years) meeting inclusion criteria participated. Patient inclusion criteria were a height below -2 SD, a diagnosis of growth hormone deficiency (GHD) or idiopathic short stature (ISS), and treatment status in terms of receiving or not receiving recombinant human growth hormone therapy. Focus groups eliciting parental HrQoL statements, pilot testing with cognitive debriefing, and a field test in 317 parents with a retest in 148 parents were conducted simultaneously in France, Germany, Spain, Sweden and the UK. The psychometric performance of the parent-reported instrument, developed in parallel to the child/ adolescent self-report version, was assessed using standard tests of reliability and validity. Literature search failed to identify a cross-culturally developed height specific instrument available for both patient self-report and parental observer report. Analysis of the QoLISSY focus group phase conducted separately in children, adolescents and parents yielded 169 items generated from parent focus groups. A cognitive debriefing exercise followed by a pilot test of preliminary psychometric characteristics resulted in deleting poorly performing items. Field testing of the parent-reported version suggested a three-domain core HrQoL structure with 22 items, additional 44 items assessing three mediator domains and two parent specific domains. The parent report version demonstrated good criterion and construct validity as well as internal consistency and test retest reliability. The QoLISSY parent report questionnaire closes a gap in the simultaneous assessment of parent and child perception of HrQoL in an international context. It is based on items generated from the experience of short statured children, adolescents and their parents and is validated for use in five European languages. It is feasible, relevant for this population, psychometrically sound and is easy to administer in research and clinical settings.

Even between-lap pacing despite high within-lap variation during mountain biking.

PubMed

Martin, Louise; Lambeth-Mansell, Anneliese; Beretta-Azevedo, Liane; Holmes, Lucy A; Wright, Rachel; St Clair Gibson, Alan

2012-09-01

Given the paucity of research on pacing strategies during competitive events, this study examined changes in dynamic high-resolution performance parameters to analyze pacing profiles during a multiple-lap mountain-bike race over variable terrain. A global-positioning-system (GPS) unit (Garmin, Edge 305, USA) recorded velocity (m/s), distance (m), elevation (m), and heart rate at 1 Hz from 6 mountain-bike riders (mean±SD age=27.2±5.0 y, stature=176.8±8.1 cm, mass=76.3±11.7 kg, VO2max=55.1±6.0 mL·kg(-1)·min1) competing in a multilap race. Lap-by-lap (interlap) pacing was analyzed using a 1-way ANOVA for mean time and mean velocity. Velocity data were averaged every 100 m and plotted against race distance and elevation to observe the presence of intralap variation. There was no significant difference in lap times (P=.99) or lap velocity (P=.65) across the 5 laps. Within each lap, a high degree of oscillation in velocity was observed, which broadly reflected changes in terrain, but high-resolution data demonstrated additional nonmonotonic variation not related to terrain. Participants adopted an even pace strategy across the 5 laps despite rapid adjustments in velocity during each lap. While topographical and technical variations of the course accounted for some of the variability in velocity, the additional rapid adjustments in velocity may be associated with dynamic regulation of self-paced exercise.

Allometry and apparent paradoxes in human limb proportions: Implications for scaling factors.

PubMed

Auerbach, Benjamin M; Sylvester, Adam D

2011-03-01

It has been consistently demonstrated that human proximal limb elements exhibit negative allometry, while distal elements scale with positive allometry. Such scaling implies that longer limbs will have higher intralimb indices, a phenomenon not borne out by empirical analyses. This, therefore, creates a paradox within the limb allometry literature. This study shows that these apparently conflicting results are the product of two separate phenomena. First, the use of the geometric mean of limb elements produces allometry coefficients that are not independent, and that when using ordinary least squares regression must yield an average slope of one. This phenomenon argues against using the geometric mean as a size variable when examining limb allometry. While the employment of relevant dimensions independent of those under analysis to calculate the geometric mean--as suggested by Coleman (Am J Phys Anthropol 135 (2008) 404-415)--may be a partial method for resolving the problem, an empirically determined, independent and biologically relevant size variable is advocated. If stature is used instead of the geometric mean as an independent size variable, all major limb elements scale with positive allometry. Second, while limb allometry coefficients do indicate differential allometry in limb elements, and thus should lead to some intralimb index allometry, this pattern appears to be attenuated by other sources of limb element length variation. Copyright © 2010 Wiley-Liss, Inc.

Obesity and diabetes genes are associated with being born small for gestational age: Results from the Auckland Birthweight Collaborative study

PubMed Central

2010-01-01

Background Individuals born small for gestational age (SGA) are at increased risk of rapid postnatal weight gain, later obesity and diseases in adulthood such as type 2 diabetes, hypertension and cardiovascular diseases. Environmental risk factors for SGA are well established and include smoking, low pregnancy weight, maternal short stature, maternal diet, ethnic origin of mother and hypertension. However, in a large proportion of SGA, no underlying cause is evident, and these individuals may have a larger genetic contribution. Methods In this study we tested the association between SGA and polymorphisms in genes that have previously been associated with obesity and/or diabetes. We undertook analysis of 54 single nucleotide polymorphisms (SNPs) in 546 samples from the Auckland Birthweight Collaborative (ABC) study. 227 children were born small for gestational age (SGA) and 319 were appropriate for gestational age (AGA). Results and Conclusion The results demonstrated that genetic variation in KCNJ11, BDNF, PFKP, PTER and SEC16B were associated with SGA and support the concept that genetic factors associated with obesity and/or type 2 diabetes are more prevalent in those born SGA compared to those born AGA. We have previously determined that environmental factors are associated with differences in birthweight in the ABC study and now we have demonstrated a significant genetic contribution, suggesting that the interaction between genetics and the environment are important. PMID:20712903

Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome).

PubMed

Boles, R G; Teebi, A S; Schwartz, D; Harper, J F

1994-07-01

Two daughters of phenotypically normal parents are described with severe proportional dwarfism with microcephaly, peculiar craniofacial anomalies, microtia, absent patellae, joint hyperextensibility, and other anomalies. Intrafamilial variability is minimal. This combination of anomalies has many similarities to the six cases previously described with the Ear, Patellae, Short stature syndrome (Meier-Gorlin syndrome), which is distinguished by the triad of microtia, absent patellae and growth retardation. Autosomal recessive inheritance is strongly suggested by the presence of two pairs of affected siblings and the equal sex ratio.

A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.

PubMed

Duca, D; Pană, I; Ciovirnache, M; Simionesu, L; Ispas, I; Maxililian, C

1981-01-01

We reported an apparently previously undescribed syndrome, designated the coxoauricular syndrome, in a mother and her 3 daughters, all of whom shared in variable manner shortness of stature, minor vertebral and pelvic changes, dislocated hip(s), and microtia with corresponding hearing loss. The oldest daughter had coincidental Ullrich-Turner syndrome with 46, Xdel(X)(q 13) chromosome constitution. Inheritance of the trait in this family is dominant, either autosomal or X-linked, with hemizygote lethality.

Prader-Willi syndrome: a case report with atypical developmental features.

PubMed

Sewaybricker, Letícia E; Guaragna-Filho, Guilherme; Paula, Georgette B; Andrade, Juliana G R; Tincani, Bruna J; D'Souza-Li, Lília; Lemos-Marini, Sofia H V; Maciel-Guerra, Andréa T; Guerra-Júnior, Gil

2014-09-01

To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features. We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. The patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin. PWS is an imprinting paternally inherited disorder of 15q11-13 characterized by hypotonia in infant age, hyperphagia, varied degrees of mental retardation, behavior problems, hypogonadism, short stature, and other less common findings.

Orphan disease: Cherubism, optic atrophy, and short stature.

PubMed

Jeevanandham, Balaji; Ramachandran, Rajoo; Dhanapal, Vignesh; Subramanian, Ilanchezhian; Sai, Venkata

2018-01-01

A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.

Detection of selective sweeps in cattle using genome-wide SNP data

PubMed Central

2013-01-01

Background The domestication and subsequent selection by humans to create breeds and biological types of cattle undoubtedly altered the patterning of variation within their genomes. Strong selection to fix advantageous large-effect mutations underlying domesticability, breed characteristics or productivity created selective sweeps in which variation was lost in the chromosomal region flanking the selected allele. Selective sweeps have now been identified in the genomes of many animal species including humans, dogs, horses, and chickens. Here, we attempt to identify and characterise regions of the bovine genome that have been subjected to selective sweeps. Results Two datasets were used for the discovery and validation of selective sweeps via the fixation of alleles at a series of contiguous SNP loci. BovineSNP50 data were used to identify 28 putative sweep regions among 14 diverse cattle breeds. Affymetrix BOS 1 prescreening assay data for five breeds were used to identify 85 regions and validate 5 regions identified using the BovineSNP50 data. Many genes are located within these regions and the lack of sequence data for the analysed breeds precludes the nomination of selected genes or variants and limits the prediction of the selected phenotypes. However, phenotypes that we predict to have historically been under strong selection include horned-polled, coat colour, stature, ear morphology, and behaviour. Conclusions The bias towards common SNPs in the design of the BovineSNP50 assay led to the identification of recent selective sweeps associated with breed formation and common to only a small number of breeds rather than ancient events associated with domestication which could potentially be common to all European taurines. The limited SNP density, or marker resolution, of the BovineSNP50 assay significantly impacted the rate of false discovery of selective sweeps, however, we found sweeps in common between breeds which were confirmed using an ultra-high-density assay scored in a small number of animals from a subset of the breeds. No sweep regions were shared between indicine and taurine breeds reflecting their divergent selection histories and the very different environmental habitats to which these sub-species have adapted. PMID:23758707

Changes in stature following plyometric drop-jump and pendulum exercises.

PubMed

Fowler, N E; Lees, A; Reilly, T

1997-12-01

The aim of this study was to compare the changes in stature following the performance of plyometric exercises using drop-jumps and a pendulum swing. Eight male participants aged 21.7 +/- 1.8 years with experience of plyometric training gave their informed consent to act as participants. Participants undertook two exercise regimens and a 15-min standing test in a random order. The exercises entailed the performance of 50 drop-jumps from a height of 0.28 m or 50 pendulum rebounds. Participants were instructed to perform maximal jumps or rebounds using a 'bounce' style. Measurements of stature were performed after a 20-min period of standing (pre-exercise), 2-min after exercise (post-exercise) and after a 20-min standing recovery (recovery). Back pain and muscle soreness were assessed using an analogue-visual scale, at each of the above times and also 24 and 36 h after the test. Peak torque during isokinetic knee extension at 1.04 rads-1 was measured immediately before and after the exercise bouts, to assess the degree of muscular fatigue. Ground/wall reaction force data were recorded using a Kistler force platform mounted in the floor for drop-jumps and vertically on the rebound wall for pendulum exercises. Drop-jumps resulted in the greatest (p < 0.05) change in stature (-2.71 +/- 0.8 mm), compared to pendulum exercises (-1.77 +/- 0.7 mm) and standing (-0.39 +/- 0.2 mm). Both exercise regimens resulted in a significant (p < 0.01) decrease in stature when compared to the standing condition. Drop-jumps resulted in significantly greater peak impact forces (p < 0.05) than pendulum exercises (drop-jumps = 3.2 +/- 0.5 x body weight, pendulum = 2.6 +/- 0.5 x body weight). The two exercise conditions both invoked a small degree of muscle soreness but there were no significant differences between conditions. Both exercise regimens resulted in a non-significant decrease in peak torque indicating a similar degree of muscular fatigue. Based on the lower shrinkage resulted and lower peak forces, it can be concluded that pendulum exercises pose a lower injury potential to the lower back than drop-jumps performed from a height of 28 cm.

Climatic influences on human body size and proportions: ecological adaptations and secular trends.

PubMed

Katzmarzyk, P T; Leonard, W R

1998-08-01

This study reevaluates the long-standing observation that human morphology varies with climate. Data on body mass, the body mass index [BMI; mass (kg)/stature (m)2], the surface area/body mass ratio, and relative sitting height (RSH; sitting height/stature) were obtained for 223 male samples and 195 female samples derived from studies published since D.F. Roberts' landmark paper "Body weight, race, and climate" in 1953 (Am. J. Phys. Anthropol. 11:533-558). Current analyses indicate that body mass varies inversely with mean annual temperature in males (r=-0.27, P < 0.001) and females (r=-0.28, P < 0.001), as does the BMI (males: r=-0.22, P=0.001; females: r=-0.30, P < 0.001). The surface area/body mass ratio is positively correlated with temperature in both sexes (males: r=0.29, P < 0.001; females: r=0.34, P < 0.001), whereas the relationship between RSH and temperature is negative (males: r=-0.37, P < 0.001; females: r=-0.46, P < 0.001). These results are consistent with previous work showing that humans follow the ecological rules of Bergmann and Allen. However, the slope of the best-fit regressions between measures of body mass (i.e., mass, BMI, and surface area/mass) and temperature are more modest than those presented by Roberts. These differences appear to be attributable to secular trends in mass, particularly among tropical populations. Body mass and the BMI have increased over the last 40 years, whereas the surface area/body mass ratio has decreased. These findings indicate that, although climatic factors continue to be significant correlates of world-wide variation in human body size and morphology, differential changes in nutrition among tropical, developing world populations have moderated their influence.

The mountains of giants: an anthropometric survey of male youths in Bosnia and Herzegovina

PubMed Central

Popović, Stevo; Bokuvka, Dominik; Davidović, Ivan; Hřebíčková, Sylva; Ingrová, Pavlína; Potpara, Predrag; Prce, Stipan; Stračárová, Nikola

2017-01-01

The aim of this anthropometric survey, conducted between 2015 and 2016 in Bosnia and Herzegovina (BiH), was to map local geographical differences in male stature and some other anthropometric characteristics (sitting height, arm span). In addition, to investigate the main environmental factors influencing physical growth, the documented values of height would be compared with available nutritional and socioeconomic statistics. Anthropometric data were collected in 3192 boys aged approximately 18.3 years (17–20 years), from 97 schools in 37 towns. When corrected for population size in the examined regions, the average height of young males in BiH is 181.2 cm (181.4 cm in the Bosniak-Croat Federation, 180.9 cm in Republika Srpska). The regional variation is considerable—from 179.7 cm in the region of Doboj to 184.5 cm in the region of Trebinje. These results fill a long-term gap in the anthropological research of the Western Balkans and confirm older reports that the population of the Dinaric Alps is distinguished by extraordinary physical stature. Together with the Dutch, Montenegrins and Dalmatians, men from Herzegovina (183.4 cm) can be regarded as the tallest in the world. Because both nutritional standards and socioeconomic conditions are still deeply suboptimal, the most likely explanation of this exceptional height lies in specific genetic factors associated with the spread of Y haplogroup I-M170. The genetic potential for height in this region could then be the greatest in the world. Future studies should further elucidate the roots of this intriguing phenomenon, which touches an important aspect of human biodiversity. PMID:28484621

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

PubMed Central

Mari, Francesca; Hermanns, Pia; Giovannucci-Uzielli, Maria L; Galluzzi, Fiorella; Scott, Daryl; Lee, Brendan; Renieri, Alessandra; Unger, Sheila; Zabel, Bernhard; Superti-Furga, Andrea

2009-01-01

In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed several genes including LEMD3, the osteopoikilosis gene. In addition to osteopoikilosis, affected individuals had growth retardation and developmental delay. We now report a smaller 12q14.4 microdeletion in a boy with severe pre and postnatal growth failure, and mild developmental delay; the patient was small at birth and presented with poor feeding and failure to thrive during the first 2 years of life, similar to the phenotype of primordial dwarfism or severe Silver-Russell syndrome (SRS). The 12q14 deletion did not include LEMD3, and no signs of osteopoikilosis were observed on skeletal radiographs. Among the deleted genes, HMGA2 is of particular interest in relationship to the aberrant somatic growth in our patient, as HMGA2 variants have been linked to stature variations in the general population and loss of function of Hmga2 in the mouse results in the pygmy phenotype that combines pre and postnatal growth failure, with resistance to the adipogenic effect of overfeeding. Sequencing of the remaining HMGA2 allele in our patient showed a normal sequence, suggesting that HMGA2 haploinsufficiency may be sufficient to produce the aberrant growth phenotype. We conclude that the 12q14.4 microdeletion syndrome can occur with or without deletion of LEMD3 gene; in LEMD3-intact cases, the phenotype includes primordial short stature and failure to thrive with moderate developmental delay, but osteopoikilosis is absent. Such cases will likely be diagnosed as Silver-Russell-like or as primordial dwarfism. PMID:19277063

Skinfold thickness, body fat percentage and body mass index in obese and non-obese Indian boys.

PubMed

Chatterjee, Satipati; Chatterjee, Pratima; Bandyopadhyay, Amit

2006-01-01

Childhood obesity is presently increasing worldwide and has created enormous concern for researchers working in the field of obesity related diseases with special interest in child health and development. Selected anthropometric measurements including stature, body mass, and skinfolds are globally accepted sensitive indicators of growth patterns and health status of a child. The present study was therefore aimed not only at evaluating the body mass index (BMI), skinfolds, body fat percentage (%fat) in obese school going boys of West Bengal, India, but also aimed to compare these data with their non-obese counterparts. Ten to sixteen year old obese boys (N = 158) were separated from their non-obese counterparts using the age-wise international cut-off points of BMI. Skinfolds were measured using skinfold calipers, BMI and %fat were calculated from standard equations. Body mass, BMI, skinfolds and %fat were significantly (P<0.001) higher for the sample of obese boys when compared to their non-obese counterparts. The obese group also showed progressive age-wise increments in all recorded anthropometric parameters. Stature (cm) showed no significant inter-group variation except in the 10 year age group (P<0.001). All data for the non-obese group were comparable with other national and international studies, but those collected for the obese group could not feasibly be compared because the availability of data on obese children is limited. Current data and prediction equations will not only serve as a reference standard, but also be of vital clinical importance in order to identify or categorize obese boys, and to take preventative steps to minimise serious health problems that appear during the later part of life.

Associations Between Arterial Oxygen Saturation, Body Size and Limb Measurements Among High-Altitude Andean Children

PubMed Central

Pomeroy, Emma; Stock, Jay T; Stanojevic, Sanja; Miranda, J Jaime; Cole, Tim J; Wells, Jonathan CK

2013-01-01

Objectives The relative influences of hypoxia and other environmental stressors on growth at altitude remain unclear. Previous work demonstrated an association between peripheral arterial oxygen saturation (SpO2) and anthropometry (especially tibia length) among Tibetan and Han children at altitude. We investigated whether similar associations exist among Andeans, and the patterning of associations between SpO2 and anthropometry. Methods Stature, head-trunk height, total upper and lower limb lengths, zeugopod (ulna and tibia) and autopod (hand and foot) lengths were measured in Peruvian children (0.5–14 years) living at >3000 m altitude. SpO2 was measured by pulse oximetry. Anthropometry was converted to internal z scores. Correlation and multiple regression were used to examine associations between anthropometry z scores and SpO2, altitude, or SpO2 adjusted for altitude since altitude is a major determinant of variation in SpO2. Results SpO2 and altitude show weak, significant correlations with zeugopod length z scores and still weaker significant correlations with total upper and lower limb length z scores. Correlations with z scores for stature, head-trunk height, or autopod lengths are not significant. Adjusted for altitude, there is no significant association between anthropometry and SpO2. Conclusions Associations between SpO2 or altitude and total limb and zeugopod length z scores exist among Andean children. However, the relationships are relatively weak, and while the relationship between anthropometry and altitude may be partly mediated by SpO2, other factors that covary with altitude (e.g., socioeconomic status, health) are likely to influence anthropometry. The results support suggestions that zeugopod lengths are particularly sensitive to environmental stressors. Am. J. Hum. Biol., 25:629–636, 2013. © 2013 Wiley Periodicals, Inc. PMID:23904412

A clinical correlation between stature and posterior tooth length.

PubMed

Reddy, Smitha; Shome, Bhuvan; Patil, Jayaprakash; Koppolu, Pradeep

2017-01-01

Exploration and determination of the relationship between stature and length of tooth is essential in Paleontology, Forensic Odontology and Endodontology. This study aimed to determine any association between stature and posterior tooth length in a group of patients who required root canal treatment. Age, sex and standing height of adults were considered for posterior tooth length measurement. Molars and Premolars of apparently normal males (n=115 for molars, n= 75 for premolars) and females (n=124 for molars, n=80 for premolars), aged 20-50 years with intact cuspal morphology, which required RCT were selected for this study. Females and males were divided into 2 groups each based on their heights females > 155 cm and ≤ 155 cm, males > 165.10 and ≤ 165.10cm. The tooth length of permanent molars and premolars in both groups were measured using RVG and Electronic apex locator. Measurements obtained were compared separately for males and females using descriptive statistics and Pearson correlation coefficient. In females MB, ML, D roots of molar showed significant association (P=0.021), (P=0.027), (P=0.010) and roots of premolars showed significant association (P=0.002), (P=0.006) between both the groups respectively In males MB, ML, D roots of molar showed significant association (P=0.009), (P=0.004), (P=0.015) and roots of premolars showed significant association (P=0.006), (P=0.020) between both the groups respectively. The present clinical study reveals that there is a positive association between stature and posterior tooth length in both males and females.

Effect of a weightlifting belt on spinal shrinkage.

PubMed

Bourne, N D; Reilly, T

1991-12-01

Spinal loading during weightlifting results in a loss of stature which has been attributed to a decrease in height of the intervertebral discs--so-called 'spinal shrinkage'. Belts are often used during the lifting of heavy weights, purportedly to support, stabilize and thereby attenuate the load on the spine. The purpose of this study was to examine the effects of a standard weightlifting belt in attenuating spinal shrinkage. Eight male subjects with a mean age of 24.8 years performed two sequences of circuit weight-training, one without a belt and on a separate occasion with a belt. The circuit training regimen consisted of six common weight-training exercises. These were performed in three sets of ten with a change of exercise after each set of ten repetitions. A stadiometer sensitive to within 0.01 mm was used to record alterations in stature. Measurements of stature were taken before and after completion of the circuit. The absolute visual analogue scale (AVAS) was used to measure the discomfort and pain intensity resulting from each of the two conditions. The circuit weight-training caused stature losses of 3.59mm without the belt and 2.87 mm with the belt (P greater than 0.05). The subjects complained of significantly less discomfort when the belt was worn (P less than 0.05). The degree of shrinkage was significantly correlated (r = 0.752, P less than 0.05) with perceived discomfort but only when the belt was not worn. These results suggest the potential benefits of wearing a weightlifting belt and support the hypothesis that the belt can help in stabilizing the trunk.

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

PubMed

Benito-Sanz, S; Barroso, E; Heine-Suñer, D; Hisado-Oliva, A; Romanelli, V; Rosell, J; Aragones, A; Caimari, M; Argente, J; Ross, J L; Zinn, A R; Gracia, R; Lapunzina, P; Campos-Barros, A; Heath, K E

2011-02-01

Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in approximately 60% of LWD and approximately 15% of idiopathic short stature (ISS) individuals. Recently SHOX duplications have been described in LWD/ISS but also in individuals with other clinical manifestations, thus questioning their pathogenicity. The objective of the study was to investigate the pathogenicity of SHOX duplications in LWD and ISS. Multiplex ligation-dependent probe amplification is routinely used in our unit to analyze for SHOX/pseudoautosomal region 1 copy number changes in LWD/ISS referrals. Quantitative PCR, microsatellite marker, and fluorescence in situ hybridization analysis were undertaken to confirm all identified duplications. During the routine analysis of 122 LWD and 613 ISS referrals, a total of four complete and 10 partial SHOX duplications or multiple copy number (n > 3) as well as one duplication of the SHOX 5' flanking region were identified in nine LWD and six ISS cases. Partial SHOX duplications appeared to have a more deleterious effect on skeletal dysplasia and height gain than complete SHOX duplications. Importantly, no increase in SHOX copy number was identified in 340 individuals with normal stature or 104 overgrowth referrals. MLPA analysis of SHOX/PAR1 led to the identification of partial and complete SHOX duplications or multiple copies associated with LWD or ISS, suggesting that they may represent an additional class of mutations implicated in the molecular etiology of these clinical entities.

Parents' perception about child's height and psychopathology in community children with relatively short stature

PubMed Central

Hwang, Jun-Won

2015-01-01

Purpose This study investigated the relationship between height and psychopathology in community children with relatively short stature according to the parents' reports. Also, the matter of parental concern about child's height was explored. Methods The child behavior checklist (CBCL), the Brief Encounter Psychosocial Instrument (BEPSI), and the child-health questionnaire-parent form 50 (CHQ-PF50) were administered to 423 parents (from elementary and middle school children's) in Gangnam, South Korea. Subjects were divided into three groups; (1) relatively short (n=30), (2) average stature (n=131), (3) relatively tall (n=153). CBCL, BEPSI, and CHQ-PF50 scores were compared among three groups. Results There were no significant differences in psychosocial burden associated with relatively short stature measured by Korean version of the BEPSI and Korean version of the CBCL scores among three groups. But general health perception score of relatively short was significantly lower than that of nonshort on the CHQ-PF50. Also, they were more used complementary medicines, milk and growth hormone compared to the nonshort. The parents' expected height of their children was 180.6±3.5 cm for boys and 166.7±3.5 cm for girls. This is respectively 90 percentile and 75-90 percentile for the Korean standard adult height. Conclusion Our study shows that in Korea, Parents tended to regard relatively short children as having health problems. Also, the parental expectation for their child's attainable height is unrealistically tall, mostly due to lack of correct medical information. PMID:26191511

[Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children].

PubMed

Li, Fang; Ma, Hong-Wei; Song, Ying; Hu, Man; Ren, Shuang; Yu, Ya-Fen; Zhao, Gui-Jie

2013-11-01

To analyze the clinical manifestations, bone X-ray findings and genetic analysis results of three short-limb inherited short stature diseases: achondroplasia (ACH), hypochondroplasia (HCH) and pseudoachondroplasia (PSACH). The clinical manifestations, bone X-ray findings, and genetic analysis results of 10 children with genetically confirmed short-limb inherited short stature diseases, including 4 cases of ACH 3 cases of HCH, and 3 cases of PSACH, were analyzed. The 10 patients had a mean body height of -3.69±1.79 SD, a mean sitting height/standing height ratio of 0.65±0.03, and a mean finger spacing/body height ratio of 0.93±0.04. Four ACH cases and 3 PSACH cases showed typical bone X-ray findings; one HCH case showed a smaller sciatic notch, and another HCH case showed no widening of interpedicular distance. G380R mutation in FGFR3 gene was detected in 3 of 4 ACH cases, and Y278C mutation in the other ACH case, N540K mutation in FGFR3 gene was detected in 3 HCH cases, and heterozygous mutations in COMP gene were detected in 3 PSACH cases. Children with ACH and PSACH have severer short stature and skeletal deformities than children with HCH, who have mild, atypical clinical manifestations. Bone X-ray and genetic analysis are helpful for the diagnosis and differential diagnosis of the three diseases. The mutational hotspots in two genes are involved in the three diseases, which is conducive to clinical genetic diagnosis.

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

PubMed

Vasques, Gabriela A; Hisado-Oliva, Alfonso; Funari, Mariana F A; Lerario, Antonio M; Quedas, Elisangela P S; Solberg, Paulo; Heath, Karen E; Jorge, Alexander A L

2017-01-01

Heterozygous loss-of-function mutations in the natriuretic peptide receptor B gene (NPR2) are responsible for short stature in patients without a distinct phenotype. Some of these patients have been treated with recombinant human growth hormone (rhGH) therapy with a variable response. The proband was a healthy boy who presented at the age of 5.1 years with familial short stature (height SDS of -3.1). He had a prominent forehead, a depressed nasal bridge, centripetal fat distribution and a high-pitched voice resembling that of children with GH deficiency. His hormonal evaluation showed low insulin-like growth factor-1 (IGF-1) but a normal GH peak at a stimulation test. During the first year of rhGH treatment, his growth velocity increased from 3.4 to 10.4 cm/year (height SDS change of +1.1). At the last visit, he was 8.8 years old and still on treatment, his growth velocity was 6.4 cm/year and height SDS was -1.8. We identified through exome sequencing a novel heterozygous loss-of-function NPR2 mutation (c.2905G>C; p.Val969Leu). Cells cotransfected with the p.Val969Leu mutant showed a significant decrease in cyclic guanosine monophosphate (cGMP) production compared to the wild type (WT), suggesting a dominant negative effect. This case reveals a novel heterozygous loss-of-function NPR2 mutation responsible for familial short stature and the good response of rhGH therapy in this patient.

Lionel Penrose and the concept of normal variation in human intelligence.

PubMed

Valles, Sean A

2012-03-01

Lionel Penrose (1898-1972) was an important leader during the mid-20th century decline of eugenics and the development of modern medical genetics. However, historians have paid little attention to his radical theoretical challenges to mainline eugenic concepts of mental disease. Working from a classification system developed with his colleague, E. O. Lewis, Penrose developed a statistically sophisticated and clinically grounded refutation of the popular position that low intelligence is inherently a disease state. In the early 1930s, Penrose advocated dividing "mental defect" (low intelligence) into two categories: "pathological mental defect," which is a disease state that can be traced to a distinct genetic or environmental cause, and "subcultural mental defect," which is not an inherent disease state, but rather a statistically necessary manifestation of human variation in intelligence. I explore the historical context and theoretical import of this contribution, discussing its rejection of typological thinking and noting that it preceded Theodosius Dobzhansky's better-known defense of human diversity. I illustrate the importance of Penrose's contribution with a discussion of an analogous situation in contemporary medicine, the controversial practice of using human growth hormone injections to treat "idiopathic short stature" (mere diminutive height, with no distinct cause). I show how Penrose's contributions to understanding human variation make such treatments appear quite misguided. Copyright © 2011 Elsevier Ltd. All rights reserved.

Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence.

PubMed

Rodríguez, Carlos A; Isaza, Carolina; Pachajoa, Harry

2012-07-01

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu varum, and trident hand. Although the etiology of this disease was reported in 1994, evidence of this disease in ancient populations has been found in populations of ancient Egypt (2500 BC) and it has been documented in ancient American populations. To analyze the presence of individuals with achondroplasia in the Mayan state society of Mexico and Guatemala, during the Classical (100- 950 AC ) and Post-Classical (950 - 1519 AC ) periods; likewise, in the hierarchical-chieftain society of Tumaco-la Tolita (300 BC - 600 AC ) from the Colombia-Ecuador Pacific coast, and the Moche state society (100 - 600 AC ) from the northern coast of Peru. Iconographic and clinical-morphological studies of some of the most important artistic representations of individuals of short stature in these three cultures. We present the hypothesis that the individuals with short stature were somehow associated with the political and religious power elite.

Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence.

PubMed Central

Isaza, Carolina; Pachajoa, Harry

2012-01-01

Introduction: Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu varum, and trident hand. Although the etiology of this disease was reported in 1994, evidence of this disease in ancient populations has been found in populations of ancient Egypt (2500 BC) and it has been documented in ancient American populations. Objective: To analyze the presence of individuals with achondroplasia in the Mayan state society of Mexico and Guatemala, during the Classical (100- 950 AC ) and Post-Classical (950 - 1519 AC ) periods; likewise, in the hierarchical-chieftain society of Tumaco-la Tolita (300 BC - 600 AC ) from the Colombia-Ecuador Pacific coast, and the Moche state society (100 - 600 AC ) from the northern coast of Peru. Methods: Iconographic and clinical-morphological studies of some of the most important artistic representations of individuals of short stature in these three cultures. Conclusion: We present the hypothesis that the individuals with short stature were somehow associated with the political and religious power elite. PMID:24893194

Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency

PubMed Central

Miyoshi, Yoko; Miki, Kazunori; Etani, Yuri; Mushiake, Sotaro; Shimizu, Nobuyuki; Ozono, Keiichi

2005-01-01

Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features, a certain proportion of idiopathic short stature and Leri-Weill dyschondrosteosis (LWD). Here we report a Japanese female with LWD. Her physical growth, skeletal deformity, and endocrine status were recorded longitudinally. She exhibited a constant growth rate (average + 6.2 cm/yr) from 6 to 9 yr old, followed by a downward shift at 10 yr old. Her final height was 135 cm (–4.4 SD for an adult female) and weight was 50.5 kg (–0.3 SD) at 12 yr and 10 mo old. Mesomelia and cubitus valgus were noticed from 2 yr old, and metaphyseal lucency and epiphyseal hypoplasia of the medial side of the distal radius were detected at 6 yr old. Madelung deformity was obvious at 10 yr old, when menarche occurred. Fluorescence in situ hybridization (FISH) analysis demonstrated a single copy of the SHOX gene. The short stature of the patient was thought to be exaggerated by the combination of SHOX haploinsufficiency and relatively early puberty. PMID:24790304

SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.

PubMed

Sandoval, Gloria Tatiana Vinasco; Jaimes, Giovanna Carola; Barrios, Mauricio Coll; Cespedes, Camila; Velasco, Harvy Mauricio

2014-03-01

SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), Turner syndrome, and disproportionate short stature (DSS). However, this gene has also been found to be mutated in cases of idiopathic short stature (ISS) with a 3-15% frequency. In this study, the multiplex ligation-dependent probe amplification (MLPA) technique was employed to determine the frequency of SHOX gene mutations and their conserved noncoding elements (CNE) in Colombian patients with ISS. Patients were referred from different centers around the county. From a sample of 62 patients, 8.1% deletions and insertions in the intragenic regions and in the CNE were found. This result is similar to others published in other countries. Moreover, an isolated case of CNE 9 duplication and a new intron 6b deletion in another patient, associated with ISS, are described. This is one of the first studies of a Latin American population in which deletions/duplications of the SHOX gene and its CNE are examined in patients with ISS.

SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature

PubMed Central

Sandoval, Gloria Tatiana Vinasco; Jaimes, Giovanna Carola; Barrios, Mauricio Coll; Cespedes, Camila; Velasco, Harvy Mauricio

2014-01-01

SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), Turner syndrome, and disproportionate short stature (DSS). However, this gene has also been found to be mutated in cases of idiopathic short stature (ISS) with a 3–15% frequency. In this study, the multiplex ligation-dependent probe amplification (MLPA) technique was employed to determine the frequency of SHOX gene mutations and their conserved noncoding elements (CNE) in Colombian patients with ISS. Patients were referred from different centers around the county. From a sample of 62 patients, 8.1% deletions and insertions in the intragenic regions and in the CNE were found. This result is similar to others published in other countries. Moreover, an isolated case of CNE 9 duplication and a new intron 6b deletion in another patient, associated with ISS, are described. This is one of the first studies of a Latin American population in which deletions/duplications of the SHOX gene and its CNE are examined in patients with ISS. PMID:24689071

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

PubMed

Shears, D J; Vassal, H J; Goodman, F R; Palmer, R W; Reardon, W; Superti-Furga, A; Scambler, P J; Winter, R M

1998-05-01

Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic limb shortening. Expression is variable and consistently more severe in females, who frequently display the Madelung deformity of the forearm (shortening and bowing of the radius with dorsal subluxation of the distal ulna). The rare Langer Mesomelic Dysplasia (LD; OMIM 249700), characterized by severe short stature with hypoplasia/aplasia of the ulna and fibula, has been postulated to be the homozygous form of LWD (refs 4-6). In a six-generation pedigree with LWD, we established linkage to the marker DXYS6814 in the pseudoautosomal region (PAR1) of the X and Y chromosomes (Z max=6.28; theta=0). Linkage analysis of three smaller pedigrees increased the lod score to 8.68 (theta=0). We identified submicroscopic PAR1 deletions encompassing the recently described short stature homeobox-containing gene SHOX (refs 7,8) segregating with the LWD phenotype in 5 families. A point mutation leading to a premature stop in exon 4 of SHOX was identified in one LWD family.

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.

PubMed

Baumann, M; Steichen-Gersdorf, E; Krabichler, B; Müller, T; Janecke, A R

2017-07-01

The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8 year old boy with the same pattern of MCA. The phenotype of these patients is characterized by postnatal short stature, skeletal anomalies of the thorax, a minor congenital heart or vascular defect, camptodactyly, micropenis, and variable additional anomalies. Motor development is delayed in both patients, and intellectual development is delayed in one patient. Our observation of a second case supports the notion that bi-allelic mutations in SEMA3A cause an autosomal recessive type of syndromic short stature. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Proposal for a universal measurement system for school chairs and desks for children from 6 to 10 years old.

PubMed

Carneiro, Vitor; Gomes, Ângela; Rangel, Bárbara

2017-01-01

In a primary education classroom of any country, children of the same age have very different statures, reaching variations of 200 mm (Gonçalves, 2012). However, the school furniture provided is not suitable or adaptable to these differences. Designing school furniture able to respond to these variations is, therefore, a challenge for ergonomics and design in a global market. It is clearly not viable for industries to adapt productions for each country. When competitiveness and limitation of resources are essential for the viability of any product it becomes essential to find a universal system adapted to the requisites of any country. Taking as prescription measure the popliteal height obtained from the data of different countries, a universal measurement system for the school chair and desk set is proposed, combining the ellipse methodology used by Molenbroek et al. (2003) and the (mis)match equations mentioned by Castellucci et al. (2014b). From the results obtained, it can be concluded that only 5 sizes are needed to implement this new measurement system of evolutionary school furniture for the primary education classroom. Copyright © 2016 Elsevier Ltd. All rights reserved.

Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.

PubMed

Tyrrell, Jessica; Jones, Samuel E; Beaumont, Robin; Astley, Christina M; Lovell, Rebecca; Yaghootkar, Hanieh; Tuke, Marcus; Ruth, Katherine S; Freathy, Rachel M; Hirschhorn, Joel N; Wood, Andrew R; Murray, Anna; Weedon, Michael N; Frayling, Timothy M

2016-03-08

To determine whether height and body mass index (BMI) have a causal role in five measures of socioeconomic status. Mendelian randomisation study to test for causal effects of differences in stature and BMI on five measures of socioeconomic status. Mendelian randomisation exploits the fact that genotypes are randomly assigned at conception and thus not confounded by non-genetic factors. UK Biobank. 119,669 men and women of British ancestry, aged between 37 and 73 years. Age completed full time education, degree level education, job class, annual household income, and Townsend deprivation index. In the UK Biobank study, shorter stature and higher BMI were observationally associated with several measures of lower socioeconomic status. The associations between shorter stature and lower socioeconomic status tended to be stronger in men, and the associations between higher BMI and lower socioeconomic status tended to be stronger in women. For example, a 1 standard deviation (SD) higher BMI was associated with a £210 (€276; $300; 95% confidence interval £84 to £420; P=6 × 10(-3)) lower annual household income in men and a £1890 (£1680 to £2100; P=6 × 10(-15)) lower annual household income in women. Genetic analysis provided evidence that these associations were partly causal. A genetically determined 1 SD (6.3 cm) taller stature caused a 0.06 (0.02 to 0.09) year older age of completing full time education (P=0.01), a 1.12 (1.07 to 1.18) times higher odds of working in a skilled profession (P=6 × 10(-7)), and a £1130 (£680 to £1580) higher annual household income (P=4 × 10(-8)). Associations were stronger in men. A genetically determined 1 SD higher BMI (4.6 kg/m(2)) caused a £2940 (£1680 to £4200; P=1 × 10(-5)) lower annual household income and a 0.10 (0.04 to 0.16) SD (P=0.001) higher level of deprivation in women only. These data support evidence that height and BMI play an important partial role in determining several aspects of a person's socioeconomic status, especially women's BMI for income and deprivation and men's height for education, income, and job class. These findings have important social and health implications, supporting evidence that overweight people, especially women, are at a disadvantage and that taller people, especially men, are at an advantage. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Clinical management of achondroplasia.

PubMed

Wright, M J; Irving, M D

2012-02-01

Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rarer but more severe problems such as cervicomedullary compression. Knowledge of these complications, appropriate surveillance strategies and treatment options is essential for the paediatrician. The authors review the published literature in this area and provide a system based approach to the management of the healthcare needs of the child with achondroplasia.

The relation between tilt table and acceleration-tolerance and their dependence on stature and physical fitness

NASA Technical Reports Server (NTRS)

Klein, K. E.; Backhausen, F.; Bruner, H.; Eichhorn, J.; Jovy, D.; Schotte, J.; Vogt, L.; Wegman, H. M.

1980-01-01

A group of 12 highly trained athletes and a group of 12untrained students were subjected to passive changes of position on a tilt table and positive accelerations in a centrifuge. During a 20 min tilt, including two additional respiratory maneuvers, the number of faints and average cardiovascular responses did not differ significantly between the groups. During linear increase of acceleration, the average blackout level was almost identical in both groups. Statistically significant coefficients of product-moment correlation for various relations were obtained. The coefficient of multiple determination computed for the dependence of acceleration tolerance on heart-eye distance and systolic blood pressure at rest allows the explanation of almost 50% of the variation of acceleration tolerance. The maximum oxygen uptake showed the expected significant correlation to the heart rate at rest, but not the acceleration tolerance, or to the cardiovascular responses to tilting.

The Impact of Early Life Stress on Growth and Cardiovascular Risk: A Possible Example for Autonomic Imprinting?

PubMed

Buchhorn, Reiner; Meint, Sebastian; Willaschek, Christian

2016-01-01

Early life stress is imprinting regulatory properties with life-long consequences. We investigated heart rate variability in a group of small children with height below the third percentile, who experienced an episode of early life stress due to heart failure or intra uterine growth retardation. These children appear to develop autonomic dysfunction in later life. Compared to the healthy control group heart rate variability (HRV) is reduced on average in a group of 101 children with short stature. Low HRV correlates to groups of children born small for gestational age (SGA), children with cardiac growth failure and children with congenital syndromes, but not to those with constitutional growth delay (CGD), who had normal HRV. Reduced HRV indicated by lower RMSSD and High Frequency (HF)-Power is indicating reduced vagal activity as a sign of autonomic imbalance. It is not short stature itself, but rather the underlying diseases that are the cause for reduced HRV in children with height below the third percentile. These high risk children-allocated in the groups with an adverse autonomic imprinting in utero or infancy (SGA, congenital heart disease and congenital syndromes)-have the highest risk for 'stress diseases' such as cardiovascular disease in later life. The incidence of attention deficit disorder is remarkably high in our group of short children.

The Impact of Early Life Stress on Growth and Cardiovascular Risk: A Possible Example for Autonomic Imprinting?

PubMed Central

Buchhorn, Reiner; Meint, Sebastian

2016-01-01

Introduction Early life stress is imprinting regulatory properties with life-long consequences. We investigated heart rate variability in a group of small children with height below the third percentile, who experienced an episode of early life stress due to heart failure or intra uterine growth retardation. These children appear to develop autonomic dysfunction in later life. Results Compared to the healthy control group heart rate variability (HRV) is reduced on average in a group of 101 children with short stature. Low HRV correlates to groups of children born small for gestational age (SGA), children with cardiac growth failure and children with congenital syndromes, but not to those with constitutional growth delay (CGD), who had normal HRV. Reduced HRV indicated by lower RMSSD and High Frequency (HF)-Power is indicating reduced vagal activity as a sign of autonomic imbalance. Conclusion It is not short stature itself, but rather the underlying diseases that are the cause for reduced HRV in children with height below the third percentile. These high risk children—allocated in the groups with an adverse autonomic imprinting in utero or infancy (SGA, congenital heart disease and congenital syndromes)—have the highest risk for ‘stress diseases’ such as cardiovascular disease in later life. The incidence of attention deficit disorder is remarkably high in our group of short children. PMID:27861527

Height and Cognition at Work: Labor market productivity in a low income setting

PubMed Central

LaFave, Daniel; Thomas, Duncan

2016-01-01

Taller workers earn more, particularly in lower income settings. It has been argued that adult height is a marker of strength which is rewarded in the labor market; a proxy for cognitive performance or other dimensions of human capital such as school quality; a proxy for health status; and a proxy for family background and genetic characteristics. As a result, the argument goes, height is rewarded in the labor market because it is an informative signal of worker quality to an employer. It has also been argued that the height premium is driven by occupational and sectoral choice. This paper evaluates the relative importance of these potential mechanisms underlying the link between adult stature and labor market productivity in a specific low income setting, rural Central Java, Indonesia. Drawing on twelve waves of longitudinal survey data, we establish that height predicts hourly earnings after controlling education, multiple indicators of cognitive performance and physical health status, measures of family background, sectoral and occupational choice, as well as local area market characteristics. The height premium is large and significant in both the wage and self-employed sectors indicating height is not only a signal of worker quality to employers. Since adult stature is largely determined in the first few years of life, we conclude that exposures during this critical period have an enduring impact on labor market productivity. PMID:27843117

Short-term Assessment of HSCT Effects on the Hypothalamus-Pituitary Axis in Pediatric Thalassemic Patients.

PubMed

Hamidieh, Amir Ali; Mohseni, Fariba; Behfar, Maryam; Hamidi, Zohreh; Alimoghaddam, Kamran; Pajouhi, Mohamad; Larijani, Bagher; Mohajeri-Tehrani, Mohammad-Reza; Ghavamzadeh, Ardeshir

2018-02-01

Beta thalassemia major (BTM) and its treatment by hematopoietic stem cell transplantation (HSCT) may have deleterious effects on the endocrine systems. We assessed endocrine complications of HSCT in pediatric patients for 3 months. In 20 (6 female) pediatric major thalassemic patients (mean age of 10.8 ± 3.9 years old), prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), T4, T3, thyroid-stimulating hormone (TSH), IGF-1, testosterone (in males) or estradiol (in females) were measured as a batch at the Endocrinology and Metabolism Research Center (EMRC) of Tehran University of Medical Sciences (TUMS) laboratories before HSCT and 1 and 3 months afterwards. The cosyntropin test for all and the clonidine test for short stature patients was conducted before HSCT. Before HSCT, delayed puberty and hypogonadotropic hypogonadism was found in 10% and 20% of patients, respectively. GH deficiency, low IGF1 and short stature was found in 25%, 55% and 40% of patients, respectively. Hypocortisolism, hypothyroidism and panhypopituitarism was found in 15%, 10% and 15% of patients, respectively. Prevalence of hypogonadotropic hypogonadism, low IGF1, hypothyroidism and panhypopituitarism was found in 20%, 40%, 10% and 10% of patients after 3 months, respectively (delayed puberty and short stature prevalence do not change after 3 months). HSCT caused lower T3 and estradiol and higher TSH. Corticosteroid users (15) had higher GH and lower T3 and testosterone or estradiol. Ferritin had a significant (negative) correlation with (before) prolactin and a significant correlation with T3 and T4 after HSCT. Age and acute graft-versus-host disease (GVHD) had no significant effect. Considering the small sample size and short duration of the study, it is difficult to reach any conclusion however it seems HSCT does not appear to have an overall positive or negative effect on prevalence of pituitary- hypothalamus axis disorders in pediatric thalassemic patients in 3 months. © 2018 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Evaluating morphometric body mass prediction equations with a juvenile human test sample: accuracy and applicability to small-bodied hominins.

PubMed

Walker, Christopher S; Yapuncich, Gabriel S; Sridhar, Shilpa; Cameron, Noël; Churchill, Steven E

2018-02-01

Body mass is an ecologically and biomechanically important variable in the study of hominin biology. Regression equations derived from recent human samples allow for the reasonable prediction of body mass of later, more human-like, and generally larger hominins from hip joint dimensions, but potential differences in hip biomechanics across hominin taxa render their use questionable with some earlier taxa (i.e., Australopithecus spp.). Morphometric prediction equations using stature and bi-iliac breadth avoid this problem, but their applicability to early hominins, some of which differ in both size and proportions from modern adult humans, has not been demonstrated. Here we use mean stature, bi-iliac breadth, and body mass from a global sample of human juveniles ranging in age from 6 to 12 years (n = 530 age- and sex-specific group annual means from 33 countries/regions) to evaluate the accuracy of several published morphometric prediction equations when applied to small humans. Though the body proportions of modern human juveniles likely differ from those of small-bodied early hominins, human juveniles (like fossil hominins) often differ in size and proportions from adult human reference samples and, accordingly, serve as a useful model for assessing the robustness of morphometric prediction equations. Morphometric equations based on adults systematically underpredict body mass in the youngest age groups and moderately overpredict body mass in the older groups, which fall in the body size range of adult Australopithecus (∼26-46 kg). Differences in body proportions, notably the ratio of lower limb length to stature, influence predictive accuracy. Ontogenetic changes in these body proportions likely influence the shift in prediction error (from under- to overprediction). However, because morphometric equations are reasonably accurate when applied to this juvenile test sample, we argue these equations may be used to predict body mass in small-bodied hominins, despite the potential for some error induced by differing body proportions and/or extrapolation beyond the original reference sample range. Copyright © 2017 Elsevier Ltd. All rights reserved.

Insulin-Like Growth Factor-I is a Marker for the Nutritional State

PubMed Central

Hawkes, Colin P; Grimberg, Adda

2017-01-01

Measurement of the serum concentration of insulin-like growth factor-1 (IGF-I) is generally used as a screening investigation for disorders of the growth hormone (GH)/IGF-I axis in children and adolescents with short stature. IGF-I concentration is sensitive to short-term and chronic alterations in the nutritional state, and the interpretation of IGF-I measurements requires knowledge of the child’s nutritional status. In this review, we summarize the effects of nutrition on the GH/IGF-I axis, and review the clinical implications of these interactions throughout childhood, both in under-nutrition and over-nutrition. PMID:26841638

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

PubMed Central

de Munnik, Sonja A; Bicknell, Louise S; Aftimos, Salim; Al-Aama, Jumana Y; van Bever, Yolande; Bober, Michael B; Clayton-Smith, Jill; Edrees, Alaa Y; Feingold, Murray; Fryer, Alan; van Hagen, Johanna M; Hennekam, Raoul C; Jansweijer, Maaike C E; Johnson, Diana; Kant, Sarina G; Opitz, John M; Ramadevi, A Radha; Reardon, Willie; Ross, Alison; Sarda, Pierre; Schrander-Stumpel, Constance T R M; Schoots, Jeroen; Temple, I Karen; Terhal, Paulien A; Toutain, Annick; Wise, Carol A; Wright, Michael; Skidmore, David L; Samuels, Mark E; Hoefsloot, Lies H; Knoers, Nine V A M; Brunner, Han G; Jackson, Andrew P; Bongers, Ernie M H F

2012-01-01

Meier–Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype–phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months–47 years). Thirty-five individuals had biallelic mutations in one of the five causative pre-replication genes. No homozygous or compound heterozygous null mutations were detected. In 10 individuals, no definitive molecular diagnosis was made. The triad of microtia, absent/hypoplastic patellae, and short stature was observed in 82% of individuals with MGS. Additional frequent clinical features were mammary hypoplasia (100%) and abnormal genitalia (42% predominantly cryptorchidism and hypoplastic labia minora/majora). One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. Individuals with ORC1 mutations had significantly shorter stature and smaller head circumferences than individuals from other gene categories. Furthermore, compared with homozygous missense mutations, compound heterozygous mutations appeared to have a more severe effect on phenotype, causing more severe growth retardation in ORC4 and more frequently pulmonary emphysema in CDT1. A lethal phenotype was seen in four individuals with compound heterozygous ORC1 and CDT1 mutations. No other clear genotype–phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and breast hypoplasia, though further studies in this patient group are needed. PMID:22333897

Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: a nationwide survey in Japan.

PubMed

Nishimura, Naoko; Hanaki, Keiichi

2014-11-01

To assess psychosocial profiles of children with achondroplasia using a nationwide survey. Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects. It is, however, still controversial whether the condition is associated with psychological problems, especially in childhood. A cross-sectional descriptive design was employed. To evaluate psychosocial profiles and adaptation processes in children with achondroplasia, we developed an inventory of scales based on the psychological stress model of which conceptual framework was comprised of stressor, coping process, coping resource and adaptation outcome domains. Participants were recruited nationwide through the largest advocacy support group for achondroplasia in Japan. Of the 130 group members, 73 X-ray-diagnosed patients, aged 8-18 years, completed the inventory of questionnaires to be analysed. As for the stressor domain, patients experienced short stature-related unpleasant experiences more frequently (z-score: +1·3 in average, +3·9 in physical inconvenience). Nevertheless, these experiences had little effect on the coping process (threat appraisal: -0·2, control appraisal: +0·1) and the adaptation outcome (stress response: +0·3, self-concept: 0·0). Interestingly, self-efficacy in the coping resource domain was noticeably increased (+3·1) and was strongly correlated with most variables in the coping process and in adaptation outcome domains. Although the children with achondroplasia experienced more short stature-related stressors, there was no evidence of any psychosocial maladaptation. This finding suggests that coping process as well as coping resources such as self-efficacy could be important targets for promoting psychological adjustment in children with achondroplasia. To help children with achondroplasia adapt socially, nurses and other healthcare providers should routinely assess their psychological adaptation process, especially cognitive appraisal and self-efficacy.

Effect of a weightlifting belt on spinal shrinkage.

PubMed Central

Bourne, N D; Reilly, T

1991-01-01

Spinal loading during weightlifting results in a loss of stature which has been attributed to a decrease in height of the intervertebral discs--so-called 'spinal shrinkage'. Belts are often used during the lifting of heavy weights, purportedly to support, stabilize and thereby attenuate the load on the spine. The purpose of this study was to examine the effects of a standard weightlifting belt in attenuating spinal shrinkage. Eight male subjects with a mean age of 24.8 years performed two sequences of circuit weight-training, one without a belt and on a separate occasion with a belt. The circuit training regimen consisted of six common weight-training exercises. These were performed in three sets of ten with a change of exercise after each set of ten repetitions. A stadiometer sensitive to within 0.01 mm was used to record alterations in stature. Measurements of stature were taken before and after completion of the circuit. The absolute visual analogue scale (AVAS) was used to measure the discomfort and pain intensity resulting from each of the two conditions. The circuit weight-training caused stature losses of 3.59mm without the belt and 2.87 mm with the belt (P greater than 0.05). The subjects complained of significantly less discomfort when the belt was worn (P less than 0.05). The degree of shrinkage was significantly correlated (r = 0.752, P less than 0.05) with perceived discomfort but only when the belt was not worn. These results suggest the potential benefits of wearing a weightlifting belt and support the hypothesis that the belt can help in stabilizing the trunk. Images Figure 1 PMID:1810615

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

PubMed

Hirschfeldova, K; Solc, R; Baxova, A; Zapletalova, J; Kebrdlova, V; Gaillyova, R; Prasilova, S; Soukalova, J; Mihalova, R; Lnenicka, P; Florianova, M; Stekrova, J

2012-01-10

The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri-Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (-2.0 SD), in combination with at least one of the selected dysmorphic signs for the ISS+ group; and the presence of Madelung deformity, without positive karyotyping for the LWD+ group. Each proband was analyzed by use of P018 MLPA kit, which covers SHOX and its regulatory sequences. Additionally, mutational analysis was done of the coding portions of the SHOX. Both extent and breakpoint localizations in the deletions/duplications found were quite variable. Some PAR1 rearrangements were detected, without obvious phenotypic association. In the ISS+ group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication with an ambiguous effect, and two SHOX mutations (13.7%). In the LWD+ group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%). In both ISS+ and LWD+ groups were positivity associated with a disproportionately short stature; in the ISS+ group, in combination with muscular hypertrophy. It seems that small PAR1 rearrangements might be quite frequent in the population. Our study suggests disproportionateness, especially in combination with muscular hypertrophy, as relevant indicators of ISS to be the effect of SHOX defect. Copyright © 2011 Elsevier B.V. All rights reserved.

Treatment of Bartter syndrome. Unsolved issue.

PubMed

Nascimento, Carla Lessa Pena; Garcia, Cecilia Lopes; Schvartsman, Benita Galassi Soares; Vaisbich, Maria Helena

2014-01-01

To describe the results of a long-term follow-up of Bartter syndrome patients treated with different drugs. Patients were diagnosed according to clinical and laboratory data. Treatment protocol was potassium supplementation, sodium, spironolactone, and non-steroidal anti-inflammatory drug. Patients who developed proteinuria were converted to angiotensin conversion enzyme inhibitor. The variables evaluated for each drug were Z-score for weight and stature, proteinuria, creatinine clearance, gastrointestinal complaints, amount of potassium supplementation, serum potassium and bicarbonate levels, and findings of upper digestive endoscopy. 20 patients were included. Follow-up was 10.1 ± 5.2 years. 17 patients received indomethacin for 5.9 ± 5.3 years; 19 received celecoxib, median of 35 months; and five received enalapril, median of 23 months. During indomethacin, a statistically significant increase was observed in the Z-score for stature and weight, without a change in the creatinine clearance. Seven of 17 patients had gastrointestinal symptoms, and upper digestive endoscopy evidenced gastritis in three patients and gastric ulcer in four patients. During celecoxib use, a significant increase was detected in the Z-score for stature and weight and a reduction of hyperfiltration; seven patients presented gastrointestinal symptoms, and upper digestive endoscopy evidenced mild gastritis in three. During enalapril use, no significant changes were observed in the Z-score for stature, weight and creatinine clearance. The conversion to enalapril resulted in a significant reduction in proteinuria. The authors suggest starting the treatment with celecoxib, and replacing by ACEi if necessary, monitoring the renal function. The safety and efficacy of celecoxib need to be assessed in larger controlled studies. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Stunting, adiposity, and the individual-level "dual burden" among urban lowland and rural highland Peruvian children.

PubMed

Pomeroy, Emma; Stock, Jay T; Stanojevic, Sanja; Miranda, J Jaime; Cole, Tim J; Wells, Jonathan C K

2014-01-01

The causes of the "dual burden" of stunting and obesity remain unclear, and its existence at the individual level varies between populations. We investigate whether the individual dual burden differentially affects low socioeconomic status Peruvian children from contrasting environments (urban lowlands and rural highlands), and whether tibia length can discount the possible autocorrelation between adiposity proxies and height due to height measurement error. Stature, tibia length, weight, and waist circumference were measured in children aged 3-8.5 years (n = 201). Height and body mass index (BMI) z scores were calculated using international reference data. Age-sex-specific centile curves were also calculated for height, BMI, and tibia length. Adiposity proxies (BMI z score, waist circumference-height ratio (WCHtR)) were regressed on height and also on tibia length z scores. Regression model interaction terms between site (highland vs. lowland) and height indicate that relationships between adiposity and linear growth measures differed significantly between samples (P < 0.001). Height was positively associated with BMI among urban lowland children, and more weakly with WCHtR. Among rural highland children, height was negatively associated with WCHtR but unrelated to BMI. Similar results using tibia length rather than stature indicate that stature measurement error was not a major concern. Lowland and rural highland children differ in their patterns of stunting, BMI, and WCHtR. These contrasts likely reflect environmental differences and overall environmental stress exposure. Tibia length or knee height can be used to assess the influence of measurement error in height on the relationship between stature and BMI or WCHtR. Copyright © 2014 Wiley Periodicals, Inc.

[Stature estimation for Sichuan Han nationality female based on X-ray technology with measurement of lumbar vertebrae].

PubMed

Qing, Si-han; Chang, Yun-feng; Dong, Xiao-ai; Li, Yuan; Chen, Xiao-gang; Shu, Yong-kang; Deng, Zhen-hua

2013-10-01

To establish the mathematical models of stature estimation for Sichuan Han female with measurement of lumbar vertebrae by X-ray to provide essential data for forensic anthropology research. The samples, 206 Sichuan Han females, were divided into three groups including group A, B and C according to the ages. Group A (206 samples) consisted of all ages, group B (116 samples) were 20-45 years old and 90 samples over 45 years old were group C. All the samples were examined lumbar vertebrae through CR technology, including the parameters of five centrums (L1-L5) as anterior border, posterior border and central heights (x1-x15), total central height of lumbar spine (x16), and the real height of every sample. The linear regression analysis was produced using the parameters to establish the mathematical models of stature estimation. Sixty-two trained subjects were tested to verify the accuracy of the mathematical models. The established mathematical models by hypothesis test of linear regression equation model were statistically significant (P<0.05). The standard errors of the equation were 2.982-5.004 cm, while correlation coefficients were 0.370-0.779 and multiple correlation coefficients were 0.533-0.834. The return tests of the highest correlation coefficient and multiple correlation coefficient of each group showed that the highest accuracy of the multiple regression equation, y = 100.33 + 1.489 x3 - 0.548 x6 + 0.772 x9 + 0.058 x12 + 0.645 x15, in group A were 80.6% (+/- lSE) and 100% (+/- 2SE). The established mathematical models in this study could be applied for the stature estimation for Sichuan Han females.

Short stature Revealing a Pycnodysostosis: A Case Report

PubMed Central

Aynaou, Hayat; Skiker, Imane; Latrech, Hanane

2016-01-01

Introduction: Pycnodysostosis is a rare genetic disease characterized by osteosclerosis and bone fragility. The clinical aspects are varied including short stature, acro-osteolysis of distal phalanges, and dysplasia of the clavicles. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, a beaked nose, obtuse mandibular angle, and both maxilla and mandible are hypoplastic. Dental abnormalities are common. We report a case with the typical clinical and radiological characteristics of the Pycnodysostosis associated with a conductive hearing loss, an association rarely reported. Case Presentation: A 12-year-female was admitted in our institute for short stature with a dysmorphic facies for evaluation. The patient reported a history of multiple fractures of the long bones after a trivial fall. On physical examination, she had the following features: short stature, limited mouth opening, short hands and feet with dysplastic nails; frontal and occipital bossing; and hypoplasia of the maxilla and mandible. Examination of the mouth: grooved palate, caries of the teeth, impacted and malposed teeth, persistent deciduous teeth and missing teeth. Laboratory investigations were normal. The radiographic examination showed a generalized increase in the bone density, slight condensation of the skull base and a very open mandibular angle. X-rays showed tapered phalanges with acro-osteolysis of the distal phalanges. A symptomatic treatment was proposed based on fracture prevention, oral hygiene, frequent dental visits and psychiatric support. Conclusion: The clinical and radiological features are the bases for the diagnosis of this disease. It is important to make the diagnosis as early as possible in order to plan the treatment and to provide a better life quality to the patients. PMID:27703936

Secular trends in body height and body mass in 19-year-old Polish men based on six national surveys from 1965 to 2010.

PubMed

Kołodziej, Halina; Łopuszańska, Monika; Lipowicz, Anna; Szklarska, Alicja; Bielicki, Tadeusz

2015-01-01

The aim was to determine whether an intergenerational trend toward increased stature is slowing down, and whether body weight has recently increased among young men in Poland, as it has in Western European countries. Data were taken from six national surveys of 19-year-old Polish male conscripts from cohorts 1965, 1976, 1986, 1995, 2001, and 2010. The mean stature of this population increased throughout the last 45 years from 170.5 cm in 1965 to 178.3 in 2010. However, the average gain in stature per decade declined from 2.4 cm in the period 1965 to 1976 to 0.8 cm per decade in 1995 to 2001, but increased to 1.0 cm in the last period. The average of body weight increased from 63.2 kg in 1965 to 73.1 in 2010 and body mass index (BMI) rose from 21.73 to 22.94 in the same period. The tempo of increase varied in different periods; between 1965 and 1986 an insignificant increase was observed (of circa 0.12); in 1986 to 1995 there was no increase, whereas the period of 2001 to 2010 witnessed a significant increase (of circa 0.76). The trend of body size and stature increase within the Polish population, although decelerating, remained positive and steady during the last 45 years. No significant impact of the past half-century's socioeconomic crises was observed in these measures of growth. We concluded that during the economic crises some effective mechanism protecting the living conditions of the children and youth were operating within the population. © 2015 Wiley Periodicals, Inc.

Turner syndrome: From birth to adulthood.

PubMed

Ríos Orbañanos, Isabel; Vela Desojo, Amaia; Martinez-Indart, Lorea; Grau Bolado, Gema; Rodriguez Estevez, Amaya; Rica Echevarria, Itxaso

2015-12-01

Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable. Copyright © 2015 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.

PubMed

Cho, Sung Yoon; Ki, Chang-Seok; Jang, Ja-Hyun; Sohn, Young Bae; Park, Sung Won; Kim, Se Hwa; Kim, Su Jin; Jin, Dong-Kyu

2012-06-01

Patients with Xp deletions have short stature and may have some somatic traits typical of Turner syndrome (TS), whereas gonadal function is generally preserved. In most studies of these patients, microsatellites have been used to determine the break point of the Xp deletion. In the present study, we describe the clinical, cytogenetic, and chromosomal microarray (CMA) analysis of a family with an Xp22.33-Xp22.12 deletion. Two female siblings, aged 8 years 9 months and 11 years 10 months, presented with short stature. The older sibling's height (index case) was 137.9 cm (-1.81 SDS) and the younger sibling's height was 118.6 cm (-2.13 SDS). The mother and both daughters had only a short stature; a skeletal survey showed normal findings except for mildly shortened 4th and 5th metacarpal bones. No features of TS were present. The deletion appeared terminal with a breakpoint within Xp22.2 located about 19.9 Mb from the Xp telomere. The deletion contained 102 protein-coding genes. A probe of the end breakage point was located at the 19,908,986th base of the X chromosome, and a probe of the marginal normal region near the breakage point was located at the 19,910,848th base of the X chromosome. Therefore, the breakage point was concluded to be located between these two probes. In summary, we report a familial case of an Xp deletion. The findings of our study may be helpful in further analyzing the phenotypes associated with Xp deletions. Copyright © 2012 Wiley Periodicals, Inc.

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.

PubMed

Binder, Gerhard

2011-02-01

SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term 'SHOX' were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2-15% of individuals with formerly idiopathic short stature, in 50-90% of individuals with Leri-Weill dyschondrosteosis, and in almost 100% of girls with Turner syndrome. Mutational analysis is primarily performed by MLPA analysis followed by gene sequencing if necessary. SHOX is a nuclear protein that binds to DNA and acts as a transcriptional activator. Orthologs are present in many vertebrates but not in rodents. Gene expression starting as early as 33 days postconception in humans is predominant in the mid portion of the buds and in the first and second pharyngeal arches. In the growth plate, hypertrophic chondrocytes express SHOX where it seems to have antiproliferative potency. The penetrance of SHOX deficiency is high, but its clinical expression is very variable becoming more pronounced with age and being more severe in females. Growth failure starts early during the first years of life and the height deficit present at preschool age seems not to deteriorate further. The mean adult height is -2.2 SDS. Auxological analysis of the body proportions (mesomelia), the presence of minor abnormalities, and the search for subtle radiographic signs are important keys to the diagnosis which has to be confirmed by genetic analysis. The growth-promoting effect of GH therapy approved for individuals with SHOX mutations seems to be equal to the effect seen in Turner syndrome. Copyright © 2011 S. Karger AG, Basel.

MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions.

PubMed

Xu, Chao; Zhang, Xinxian; Dong, Lina; Zhu, Bin; Xin, Tao

2017-06-01

We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due to primary hypothyroidism; 38 cases (6.6%) of Rathke cleft cyst; 68 cases (11.8%) of empty sella syndrome; 16 cases (2.8%) of pituitary invasion from Langerhans cell histiocytosis; 2 cases (0.3%) of sellar regional arachnoid cyst and 39 cases (6.8%) of craniopharyngioma. MRI results showed that the height of anterior pituitary in patients was less than normal. Location, size and signals of posterior pituitary and pituitary stalk were normal in anterior pituitary dysplasia. In all cases pituitary hyperplasia was caused by hypothyroidism. MRI results showed that anterior pituitary was enlarged, and we detected upward apophysis and obvious homogeneous enhancement. There were no pituitary stalk interruption and abnormal signal. We also observed that after hormone replacement therapy the size of pituitary gland was reduced. Anterior pituitary atrophy was observed in Rathke cleft cyst, empty sella syndrome, sellar regional arachnoid cyst and craniopharyngioma. The microstructure of hypophysis and sellar region was studied with MRI. We detected pituitary lesions, and the characteristics of various pituitary diseases of GHD in children with short stature. It was concluded that in children with GHD caused by pituitary lesions, MRI was an excellent method for early diagnosis. This method offers clinical practicability and we believe it can be used for differential diagnosis and to monitor the therapeutic effects.

Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.

PubMed

Canton, Ana Pinheiro Machado; Nishi, Mirian Yumie; Furuya, Tatiane Katsue; Roela, Rosimeire Aparecida; Jorge, Alexander Augusto Lima

2016-04-01

The 9p trisomy syndrome is a rare condition, clinically characterized by a wide range of dysmorphic features, intellectual disability, and, in most patients, by short stature. Recombinant human growth hormone (rhGH) therapy is still controversial in syndromic disorders, the reason for which it is not currently indicated. Here we report a 7-year-old boy with 9p trisomy syndrome and marked short stature. Results of routine laboratory assessments were normal. IGF1 and IGFBP3 levels were both in the normal range (-1.6 and -0.7 SDS, respectively). GH peak in response to oral clonidine stimulation test was 3.5 μg/L, which is considered a normal response. Chromosomal analysis revealed the karyotype 47,XY, + del(9)(pter-q11:) dn. SNP array data indicated absence of mosaicism [arr 9p24.3-p13.1 (203,861-38,787,480) x3]. By the age of 8.3 years, the patient had persistent short stature (-2.9 SDS) with normal growth velocity (4.9 cm/y; -0.7 SDS), not showing spontaneous catch-up. After 5.6 years of rhGH therapy (50 μg/kg/d), height SDS improved from -2.9 to -1.0. This result suggests that rhGH therapy could be considered for patients with 9p trisomy syndrome who present with short stature. The degree of intellectual disability and the potential for social inclusion should be taken into account when recommending this treatment. Additional studies are needed to establish the benefits of height gain in these patients. © 2015 Wiley Periodicals, Inc.

Climate- and successional-related changes in functional composition of European forests are strongly driven by tree mortality.

PubMed

Ruiz-Benito, Paloma; Ratcliffe, Sophia; Zavala, Miguel A; Martínez-Vilalta, Jordi; Vilà-Cabrera, Albert; Lloret, Francisco; Madrigal-González, Jaime; Wirth, Christian; Greenwood, Sarah; Kändler, Gerald; Lehtonen, Aleksi; Kattge, Jens; Dahlgren, Jonas; Jump, Alistair S

2017-10-01

Intense droughts combined with increased temperatures are one of the major threats to forest persistence in the 21st century. Despite the direct impact of climate change on forest growth and shifts in species abundance, the effect of altered demography on changes in the composition of functional traits is not well known. We sought to (1) quantify the recent changes in functional composition of European forests; (2) identify the relative importance of climate change, mean climate and forest development for changes in functional composition; and (3) analyse the roles of tree mortality and growth underlying any functional changes in different forest types. We quantified changes in functional composition from the 1980s to the 2000s across Europe by two dimensions of functional trait variation: the first dimension was mainly related to changes in leaf mass per area and wood density (partially related to the trait differences between angiosperms and gymnosperms), and the second dimension was related to changes in maximum tree height. Our results indicate that climate change and mean climatic effects strongly interacted with forest development and it was not possible to completely disentangle their effects. Where recent climate change was not too extreme, the patterns of functional change generally followed the expected patterns under secondary succession (e.g. towards late-successional short-statured hardwoods in Mediterranean forests and taller gymnosperms in boreal forests) and latitudinal gradients (e.g. larger proportion of gymnosperm-like strategies at low water availability in forests formerly dominated by broad-leaved deciduous species). Recent climate change generally favoured the dominance of angiosperm-like related traits under increased temperature and intense droughts. Our results show functional composition changes over relatively short time scales in European forests. These changes are largely determined by tree mortality, which should be further investigated and modelled to adequately predict the impacts of climate change on forest function. © 2017 John Wiley & Sons Ltd.

Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability.

PubMed

Isidor, Bertrand; David, Albert

2015-01-01

Here, we report two unrelated girls with prenatal onset short stature, short neck, cervical vertebral anomalies, Sprengel deformity, and mild intellectual disability. The association of these features first suggested a syndromic form of Klippel-Feil anomaly. We therefore analyzed the three known disease causing genes and the candidate gene PAX1. However, direct sequencing of GDF6, GDF3, PAX1, and MEOX1 failed to identify any mutation. To our knowledge, the phenotype we report has not been described previously, leading us to speculate that this condition may represent a new syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

[Laron syndrome: Presentation, treatment and prognosis].

PubMed

Latrech, Hanane; Polak, Michel

2016-01-01

Laron syndrome is a rare cause of short stature due to an abnormality of growth hormone receptor (GHR). It is characterized by poor phenotype-genotype correlation and geographic predilection essentially in the Mediterranean rim, the Middle East and Indian subcontinent. This syndrome corresponds to an endogenous and exogenous complete insensitivity of GH and manifests by early hypoglycemia, an extremely severe short stature and dysmorphic features contrasting with high levels of circulating GH. To date, treatment with recombinant IGF1 is the only treatment option that has improved the terrible prognosis in these patients but does not actually realize the conditions for genuine replacement therapy. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Premature ovarian failure, short stature, and Hashimoto's disease in an 18-year-old adolescent girl with 46, X, i(X)(q10).

PubMed

Hu, Xiang; Zhang, Qiao; Gao, Feng; Chen, Lu-Lu

2018-04-22

Premature ovarian failure (POF) is a heterogeneous condition affecting girls and women. We detected a previously healthy 18-year-old adolescent girl, presented with amenorrhea over six months, as well as circulating levels of estradiol lower decreased and follicle-stimulating hormone (FSH) increased. She was 138 cm tall. Results of laboratory tests and/or ultrasound investigations showed 46, X, i(X)(q10) karyotype and Hashimoto's disease. This case suggests that pubertal onset and progression, as well as karyotype analysis, should be evaluated in girls with Hashimoto's disease and short stature.

[Tall stature: some classical syndromes].

PubMed

Gusbin, N; Verloes, A; Daly, A; Beckers, A

2006-01-01

We describe the findings of XYY syndrome in the setting of encountering an individual with this particular condition in the endocrinology clinic. XYY syndrome is a relatively frequent if unfamiliar condition, which is characterized by taller than average height. The extra Y chromosome may play a role in determining the height of these individuals. From this case, a differential diagnosis of tall stature is outlined, in addition to a description of the principal syndromes associated with gigantism. These primarily include Klinefelter syndrome, Marfan syndrome, androgen resistance and growth hormone excess. These various entities are described from the point of view of their symptomatology, biology, pathophysiology and therapeutic characteristics.

Hand-wrist and cervical vertebral maturation indicators: how can these events be used to time Class II treatments?

PubMed

Grave, Keith; Townsend, Grant

2003-11-01

Ossification events in the hand and wrist and in the cervical vertebrae have been shown to occur at specific times before, during and after the adolescent growth spurt, but there is still debate about the applicability of these findings to the clinical management of Class II cases. The aim of this study was to relate, on an individual basis, cervical vertebral maturation stages and hand-wrist ossification events to the timing of peak statural and mandibular growth in a group of indigenous Australians. Velocity curves for stature and mandibular growth were constructed for 47 boys and 27 girls, and maturation events were then plotted on the curves. For the majority of children, peak velocity in mandibular growth coincided with peak velocity in stature. Particular combinations of hand-wrist and cervical maturation events occurred consistently before, during or after the adolescent growth spurt. Our findings are consistent with those for North American children and we believe that assessment by orthodontists of a combination of hand-wrist and cervical vertebral maturation stages will enhance prediction of the adolescent growth spurt, thereby contributing to a positive, purposeful and more confident approach to the management of Class II cases.

Obstructive Sleep Apnea Syndrome in a Pubescent Boy of Short Stature Was Improved with an Orthodontic Mandibular Advancement Oral Appliance: A Case Report

PubMed Central

Ito, Shin; Otake, Hironao; Tsuiki, Satoru; Miyao, Etsuko; Noda, Akiko

2015-01-01

We report a 16-year-old pubescent pediatric patient with obstructive sleep apnea syndrome (OSAS) and short stature whose apnea hypopnea index (AHI) was significantly reduced following the use of an orthodontic oral appliance that advances the mandible ventrally. The mandible was advanced 64% of the maximal mandibular protrusive position with use of the appliance over a 3-year period. The patient's AHI without the appliance in place decreased from 101.6/h at baseline to 11/h after treatment. Moreover, the patient's height increased 14 cm during treatment, resulting in height close to the average height for his age. Cephalometric analysis revealed an improvement in his retrognathic mandible and proclination of the upper front teeth. In conclusion, an orthodontic mandibular advancement oral appliance played an important role not only in improving the patient's OSAS but also in normalizing his physical growth during puberty. Citation: Ito S, Otake H, Tsuiki S, Miyao E, Noda A. Obstructive sleep apnea syndrome in a pubescent boy of short stature was improved with an orthodontic mandibular advancement oral appliance: a case report. J Clin Sleep Med 2015;11(1):75–76. PMID:25348240

Childhood circumstances and anthropometry: the Boyd Orr cohort.

PubMed

Whitley, Elise; Gunnell, David; Davey Smith, George; Holly, Jeff M P; Martin, Richard M

2008-01-01

Childhood environment is known to affect stature in childhood and adulthood. Peak growth for different anthropometric measures occurs at different times and so associations with childhood conditions that vary across different components of stature may indicate periods of growth that are particularly influenced by environmental factors. The study examined relationships between anthropometric measurements (foot length, shoulder breadth, height, trunk and leg length) and childhood exposures (breast-feeding, birth order, household income, household food expenditure, social class, crowding, number of children in the household, and household diet) in 2376 members of the Boyd Orr cohort aged 2-14 years. All childhood exposures were associated with childhood anthropometric measures to some degree. In multivariable models, the most consistent relationships were positive associations of anthropometric measures with ever being breast-fed, decreasing number of children in the household and, in boys, increasing household income. There was a steadily decreasing gradient in the strength of associations across different anthropometric measures; the strongest were observed with height followed by leg length, foot length, trunk and shoulder breadth. The individual components of stature most strongly associated with childhood environment in this age group were leg and foot length.

Prediction of anthropometric measurements from tooth length--A Dravidian study.

PubMed

Sunitha, J; Ananthalakshmi, R; Sathiya, Jeeva J; Nadeem, Jeddy; Dhanarathnam, Shanmugam

2015-12-01

Anthropometric measurement is essential for identification of both victims and suspects. Often, this data is not readily available in a crime scene situation. The availability of one data set should help in predicting the other. This study was hypothesised on the basis of a correlation and geometry between the tooth length and various body measurements. To correlate face, palm, foot and stature measurements with tooth length. To derive a regression formula to estimate the various measurements from tooth length. The present study was conducted on Dravidian dental students in the age group 18 - 25 with a sample size of 372. All of the dental and physical parameters were measured using standard anthropometric equipments and techniques. The data was analysed using SPSS software and the methods used for statistical analysis were linear regression analysis and Pearson correlation. The parameters (incisor height (IH), face height (FH), palm length (PL), foot length (FL) and stature (S) showed nil to mild correlation (R = 0.2 ≤ 0.4) except for palm length (PL) and foot length (FL). (R>0.6). It is concluded that odontometric data is not a reliable source for estimating the face height (FH), palm length (PL), foot length (FL) and stature (S).

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

PubMed

Schneider, Katja U; Marchini, Antonio; Sabherwal, Nitin; Röth, Ralph; Niesler, Beate; Marttila, Tiina; Blaschke, Rüdiger J; Lawson, Margaret; Dumic, Miroslav; Rappold, Gudrun

2005-07-01

Haploinsufficiency of the short stature homeobox gene SHOX has been found in patients with idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). In addition to complete gene deletions and nonsense mutations, several missense mutations have been identified in both patient groups, leading to amino acid substitutions in the SHOX protein. The majority of missense mutations were found to accumulate in the region encoding the highly conserved homeodomain of the paired-like type. In this report, we investigated nine different amino acid exchanges in the homeodomain of SHOX patients with ISS and LWD. We were able show that these mutations cause an alteration of the biological function of SHOX by loss of DNA binding, reduced dimerization ability, and/or impaired nuclear translocation. Additionally, one of the mutations (c.458G>T, p.R153L) is defective in transcriptional activation even though it is still able to bind to DNA, dimerize, and translocate to the nucleus. Thus, we demonstrate that single missense mutations in the homeodomain fundamentally impair SHOX key functions, thereby leading to the phenotype observed in patients with LWD and ISS.

Spine and rib abnormalities and stature in spondylocostal dysostosis.

PubMed

Takikawa, Kazuharu; Haga, Nobuhiko; Maruyama, Toru; Nakatomi, Akiko; Kondoh, Tatsuro; Makita, Yoshio; Hata, Akira; Kawabata, Hidehiko; Ikegawa, Shiro

2006-04-01

A retrospective study of radiographic and clinical findings of spondylocostal dysostosis. To determine the features of spondylocostal dysostosis diagnosed using consistent diagnostic criteria. To our knowledge, no clear definition of spondylocostal dysostosis exists, and little information is available regarding its clinical or radiographic features. We defined spondylocostal dysostosis as a congenital spinal disorder consisting of >or=2 vertebral anomalies associated with rib anomalies, without crab-like chest. For 30 patients, including 12 males and 18 females, who met these criteria, we evaluated vertebral and rib anomalies, birth and present body height, and associated anomalies. There were only 2 familial cases. Features of spondylocostal dysostosis were: (1) anomalies involved the thoracic region in all cases; many also involved the cervical spine; (2) most patients had >or=4 vertebral anomalies; (3) frequent vertebral anomalies were butterfly vertebra, hemivertebra, complete block, and unilateral bar, which were associated with both rib absence and fusion; (4) short stature was not always present at birth; and (5) complete block was 1 factor identified as being related to short stature after 12 years of age. Several features of sporadic spondylocostal dysostosis disorder were determined, including new findings related to body height.

Stature and body weight growth during adolescence based on longitudinal data of Japanese children born during World War II.

PubMed

Ashizawa, K; Takahashi, C; Yanagisawa, S

1978-09-01

Longitudinal survey data of stature and body weight from age 7 to 17 were obtained for 100 boys and 100 girls during World War II. The growth rates and the average annual increments were compared with those of children born after the war. Growth attained at age 7 as a percentage of that at age 17 is larger in children of the control group, presumably as a result of an improved environment affecting the growth increment. The age at maximum velocity is six months to one year earlier for the current group of children. Although the maximum velocities for both items and sexes are nearly the same in the groups compared, the total increments are larger in the current group of children. Age, distance, and maximum velocity at adolescent growth spurt were obtained for each child. The mean values were compared according to growth patterns and growth attained at age 7. The "increasing type" growth group has the highest velocity at the greatest distance and the oldest age for stature. Children who were taller or heavier at age 7 have velocity peaks with greater distances.

[Turner syndrome: Study of 42 cases].

PubMed

Bahíllo-Curieses, M Pilar; Prieto-Matos, Pablo; Quiroga González, Rocío; Regueras Santos, Laura; Blanco Barrio, Amaya; Rupérez Peña, Sara

2016-10-21

Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years). Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

Imaging of SHOX-associated anomalies.

PubMed

Gahunia, Harpal K; Babyn, Paul S; Kirsch, Susan; Mendoza-Londono, Roberto

2009-09-01

Human growth is a multifactorial trait influenced by environmental, hormonal, and genetic factors. Although it is clear that multiple factors contribute to an individual's final height and limb development, genetic factors play a crucial role. One such gene is the short stature homeobox ( SHOX) containing gene. Knowledge about the SHOX gene has rapidly increased since its discovery in 1997, and we now know that SHOX haploinsufficiency affects the development of the extremities and is an important cause of short stature. Currently, SHOX mutations occur with an estimated incidence of roughly 1 in 1000 newborns, making mutations of this gene one of the most common genetic defects associated with growth failure and skeletal deformities. Heterozygous mutations of SHOX have been implicated in patients with Madelung's deformity, Leri-Weill dyschondrosteosis (77%), Turner's syndrome (66%), and idiopathic short stature (3%), and homozygous mutations of SHOX gene have been identified in patients with Langer's mesomelic dysplasia (100%). Recognition of the early radiographic features encountered in SHOX haploinsufficiency maybe pivotal for the diagnosis. In this article, we summarize the genetic and clinical features of the various SHOX haploinsufficiency-associated disorders. We present the characteristic imaging features of these disorders and the results of growth hormone treatment trials.

Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor.

PubMed

Meyer, S; Ipek, M; Keth, A; Minnemann, T; von Mach, M A; Weise, A; Ittner, J R; Nawroth, P P; Plöckinger, U; Stalla, G K; Tuschy, U; Weber, M M; Kann, P H

2007-08-01

Genetic factors play an expanding role in understanding growth hormone (GH) disorders, therefore the German KIMS Pharmacogenetics Study was initiated with the aim of genotyping various GH-/IGF-I-axis-related genes of GH-deficient adult patients to investigate genotype:phenotype relationships and response to GH therapy. 129 consecutively enrolled GH-deficient adult patients were genotyped for variant 1 (V1) of the alternatively spliced noncoding exons in the 5'-untranslated region and for the nine coding exons of the GH receptor (GHR) gene, which obviously play a striking role in the function of the GH-IGF-I-axis. After detection of a heterozygous, non-synonymous mutation R179C in exon 6 in one single patient with acquired GH-deficiency (GHD) in late adulthood, analysis of her clinical data followed, leading to the diagnosis of mild short stature (-1.5SD). For further endocrine evaluation, five pituitary stimulation tests (arginine) of this patient were statistically compared to stimulation tests (arginine) of ten GH-deficient control patients, retrospectively. The formerly in patients with Laron syndrome and idiopathic short stature reported mutation R179C leads to an amino acid change from an arginine residue (codon CGC) to a cysteine residue (codon TGC) in position 179 of the extracellular domain of the GHR. Statistical analysis revealed significant decreased IGF-I/GH(0) ratio (p=0.004) and IGF-I/GH(max) ratio (p=0.001) of the index patient compared to the control patients, implying growth hormone resistance of the index patient at the level of the GHR, according to the detected R179C mutation. This study reports on the unusual case of a patient with mild short stature, who acquired GHD in late adulthood due to a non-secreting pituitary adenoma and get additionally diagnosed for pre-existing growth hormone insensitivity due to a formerly in two short statured patients described, single, heterozygous, non-synonymous mutation in the GHR. Our findings support the theory that heterozygous mutations in the GHR gene can have mild phenotypical consequences.

Root microbiota dynamics of perennial Arabis alpina are dependent on soil residence time but independent of flowering time.

PubMed

Dombrowski, Nina; Schlaeppi, Klaus; Agler, Matthew T; Hacquard, Stéphane; Kemen, Eric; Garrido-Oter, Ruben; Wunder, Jörg; Coupland, George; Schulze-Lefert, Paul

2017-01-01

Recent field and laboratory experiments with perennial Boechera stricta and annual Arabidopsis thaliana suggest that the root microbiota influences flowering time. Here we examined in long-term time-course experiments the bacterial root microbiota of the arctic-alpine perennial Arabis alpina in natural and controlled environments by 16S rRNA gene profiling. We identified soil type and residence time of plants in soil as major determinants explaining up to 15% of root microbiota variation, whereas environmental conditions and host genotype explain maximally 11% of variation. When grown in the same soil, the root microbiota composition of perennial A. alpina is largely similar to those of its annual relatives A. thaliana and Cardamine hirsuta. Non-flowering wild-type A. alpina and flowering pep1 mutant plants assemble an essentially indistinguishable root microbiota, thereby uncoupling flowering time from plant residence time-dependent microbiota changes. This reveals the robustness of the root microbiota against the onset and perpetual flowering of A. alpina. Together with previous studies, this implies a model in which parts of the root microbiota modulate flowering time, whereas, after microbiota acquisition during vegetative growth, the established root-associated bacterial assemblage is structurally robust to perturbations caused by flowering and drastic changes in plant stature.

Quantitative assessment of human body shape using Fourier analysis

NASA Astrophysics Data System (ADS)

Friess, Martin; Rohlf, F. J.; Hsiao, Hongwei

2004-04-01

Fall protection harnesses are commonly used to reduce the number and severity of injuries. Increasing the efficiency of harness design requires the size and shape variation of the user population to be assessed as detailed and as accurately as possible. In light of the unsatisfactory performance of traditional anthropometry with respect to such assessments, we propose the use of 3D laser surface scans of whole bodies and the statistical analysis of elliptic Fourier coefficients. Ninety-eight male and female adults were scanned. Key features of each torso were extracted as a 3D curve along front, back and the thighs. A 3D extension of Elliptic Fourier analysis4 was used to quantify their shape through multivariate statistics. Shape change as a function of size (allometry) was predicted by regressing the coefficients onto stature, weight and hip circumference. Upper and lower limits of torso shape variation were determined and can be used to redefine the design of the harness that will fit most individual body shapes. Observed allometric changes are used for adjustments to the harness shape in each size. Finally, the estimated outline data were used as templates for a free-form deformation of the complete torso surface using NURBS models (non-uniform rational B-splines).

Cataract in a patient with 47,XYY sex chromosome aneuploidy.

PubMed

Medina-Andrade, A; Villanueva-Mendoza, C; Arenas, S; Cortés-González, V

2018-06-01

The case concerns a 16 year-old boy with a history of high myopia and unilateral congenital cataract, tall stature for age, facial dysmorphism, hypermobile metacarpal-phalangeal joints, as well as behavioural problems. The mother had a history of recurrent pregnancy loss. Chromosomal analysis of the peripheral blood lymphocytes reported 47,XYY. Patients with sex chromosome aneuploidy 47,XYY have higher risk of congenital malformations, although ophthalmological anomalies are unusual. Evaluation of patients with tall stature and behavioural problems should include a chromosomal analysis in order to determine the aetiology. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

45,X/47,XXX Mosaicism and Short Stature.

PubMed

Everest, Erica; Tsilianidis, Laurie A; Haider, Anzar; Rogers, Douglas G; Raissouni, Nouhad; Schweiger, Bahareh

2015-01-01

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.

45,X/47,XXX Mosaicism and Short Stature

PubMed Central

Tsilianidis, Laurie A.; Haider, Anzar; Rogers, Douglas G.; Schweiger, Bahareh

2015-01-01

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes. PMID:26137340

Current best practice in the management of Turner syndrome

PubMed Central

Shankar, Roopa Kanakatti; Backeljauw, Philippe F.

2017-01-01

Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. A multidisciplinary approach and a well-planned transition to adult follow-up care will improve health care delivery significantly for this population. PMID:29344338

Birmingham Mid-Head Resection hip arthroplasty in a young man with gigantism.

PubMed

Murphy, Michael T; Shillington, Mark P; Mogridge, Damon R; Journeaux, Simon F

2012-02-01

The Birmingham Mid-Head Resection (Smith & Nephew Ltd, Warwick, United Kingdom) arthroplasty is a new bone-conserving procedure that, like hip resurfacing, is used in younger, active patients. We present the case of a young man with Sotos syndrome (cerebral gigantism) with associated extraordinary stature (height, 2.16 m; weight, 157 kg) who underwent Birmingham Mid-Head Resection arthroplasty. The large stature of this patient required a custom manufactured prosthesis (a femoral head 68 mm in diameter with an acetabular cup 76 mm in diameter). We believe this to be the largest metal-on-metal resurfacing articulation and hip arthroplasty reported to date. Copyright © 2012 Elsevier Inc. All rights reserved.

Case report: Anesthesia management for emergency cesarean section in a patient with dwarfism.

PubMed

Li, Xiaoxi; Duan, Hongjun; Zuo, Mingzhang

2015-04-28

Dwarfism is characterized by short stature. Pregnancy in women with dwarfism is uncommon and cesarean section is generally indicated for delivery. Patients with dwarfism are high-risk population for both general and regional anesthesia, let alone in an emergency surgery. In this case report we present a 27-year-old Chinese puerpera with dwarfism who underwent emergency cesarean section under combined spinal and epidural anesthesia. It is an original case report, which provides instructive significance for anesthesia management especially combined spinal and epidural anesthesia in this rare condition. There was only one former article that reported a puerpera who underwent combined spinal and epidural anesthesia for a selective cesarean section.

Same Phenotype in Children with Growth Hormone Deficiency and Resistance

PubMed Central

Ioimo, Irene; Guarracino, Carmen; Meazza, Cristina; Domené, Horacio M.

2018-01-01

By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. After PCR amplification of the whole GH1 gene, type IA idiopathic GHD was diagnosed. The second case had cranium hypoplasia, a large head, protruding forehead, saddle nose, underdeveloped mandible, and a micropenis. Basal GH levels were high (28.4 ng/ml) while serum IGF-I levels were low and unchangeable during the IGF-I generation test. Laron syndrome was confirmed after the molecular analysis of the GH receptor (GHR) gene. IGHD type IA and Laron syndrome is characterized by opposite circulating levels of GH, while both have reduced levels of IGF-I, with an overlapping clinical phenotype, lacking the effects of IGF-I on cartilage. These classical cases show the importance of differential diagnosis in children with severe short stature. PMID:29850346

What’s in a Surname? Physique, Aptitude, and Sports Type Comparisons between Tailors and Smiths

PubMed Central

Voracek, Martin; Rieder, Stephan; Stieger, Stefan; Swami, Viren

2015-01-01

Combined heredity of surnames and physique, coupled with past marriage patterns and trade-specific physical aptitude and selection factors, may have led to differential assortment of bodily characteristics among present-day men with specific trade-reflecting surnames (Tailor vs. Smith). Two studies reported here were partially consistent with this genetic-social hypothesis, first proposed by Bäumler (1980). Study 1 (N = 224) indicated significantly higher self-rated physical aptitude for prototypically strength-related activities (professions, sports, hobbies) in a random sample of Smiths. The counterpart effect (higher aptitude for dexterity-related activities among Tailors) was directionally correct, but not significant, and Tailor-Smith differences in basic physique variables were nil. Study 2 examined two large total-population-of-interest datasets (Austria/Germany combined, and UK: N = 7001 and 20532) of men’s national high-score lists for track-and-field events requiring different physiques. In both datasets, proportions of Smiths significantly increased from light-stature over medium-stature to heavy-stature sports categories. The predicted counterpart effect (decreasing prevalences of Tailors along these categories) was not supported. Related prior findings, the viability of possible alternative interpretations of the evidence (differential positive selection for trades and occupations, differential endogamy and assortative mating patterns, implicit egotism effects), and directions for further inquiry are discussed in conclusion. PMID:26161803

Ullrich-Turner syndrome and neurofibromatosis-1

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schorry, E.K.; Lovell, A.M.; Saal, H.M.

There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple cafe-au-lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the firstmore » child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 cafe-au-lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan- or Ullrich-Turner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy. 14 refs., 2 figs.« less

Osteogenesis imperfecta: Level of independence and of social, recreational and sports participation among adolescents and youth.

PubMed

Rodríguez Celin, Mercedes; Fano, Virginia

2016-06-01

Osteogenesis imperfecta is a group of hereditary connective tissue disorders that cause bone fragility, with a wide clinical variability resulting in varying degrees of motor disability. To describe the level of independence and of social, recreational and sports participation among adolescents with osteogenesis imperfecta. Descriptive, analytical and crosssectional study conducted in patients with osteogenesis imperfecta older than 15 years old attending the Skeletal Dysplasia Office of Hospital "Prof. Dr. Juan P. Garrahan" (May 2013 through December 2014). Self-administered survey. Short stature was an outcome measure that indicated severity. There were 18 patients; age: 19.17 (±3.4 sDE); 83% had moderate-severe forms of OI; median height: -7.9 sDE; 50% used a wheelchair. Average education years: 12.2; 56% participated in sporting activities; and 78% were involved in recreational and social activities. A high level of independence was observed. We found a correlation between short stature and use of wheelchair (r: -0.77) and between short stature and participation in sporting activities (r: 0.66). No correlation was observed with years of education (r: -0.15), participation in social activities (r: -0.22) or recreational activities (r: 0.35). Sociedad Argentina de Pediatría.

Guanine nucleotide-binding protein α subunit hypofunction in children with short stature and disproportionate shortening of the 4th and 5th metacarpals.

PubMed

Inta, Ioana Monica; Choukair, Daniela; Bender, Sebastian; Kneppo, Carolin; Knauer-Fischer, Sabine; Meyenburg, Kahina; Ivandic, Boris; Pfister, Stefan M; Bettendorf, Markus

2014-01-01

GNAS encodes the α subunit of the stimulatory G protein (Gsα). Maternal inherited Gsα mutations cause pseudohypoparathyroidism type Ia (PHP-Ia), associated with shortening of the 4th and 5th metacarpals. Here we investigated the Gsα pathway in short patients with distinct shortening of the 4th and 5th metacarpals. In 571 children with short stature and 4 patients with PHP-Ia metacarpal bone lengths were measured. In identified patients we analysed the Gsα protein function in platelets, performed GNAS sequencing, and epigenetic analysis of four significant differentially methylated regions. In 51 patients (8.9%) shortening of the 4th and 5th metacarpals was more pronounced than their height deficit. No GNAS coding mutations were identified in 20 analysed patients, except in 2 PHP-Ia patients. Gsα activity was reduced in all PHP-Ia patients and in 25% of the analysed patients. No significant methylation changes were identified. Our findings suggest that patients with short stature and distinct metacarpal bone shortening could be part of the wide variety of PHP/PPHP, therefore it was worthwhile analysing the Gsα protein function and GNAS gene in these patients in order to further elucidate the phenotype and genotype of Gsα dysfunction.

What's in a Surname? Physique, Aptitude, and Sports Type Comparisons between Tailors and Smiths.

PubMed

Voracek, Martin; Rieder, Stephan; Stieger, Stefan; Swami, Viren

2015-01-01

Combined heredity of surnames and physique, coupled with past marriage patterns and trade-specific physical aptitude and selection factors, may have led to differential assortment of bodily characteristics among present-day men with specific trade-reflecting surnames (Tailor vs. Smith). Two studies reported here were partially consistent with this genetic-social hypothesis, first proposed by Bäumler (1980). Study 1 (N = 224) indicated significantly higher self-rated physical aptitude for prototypically strength-related activities (professions, sports, hobbies) in a random sample of Smiths. The counterpart effect (higher aptitude for dexterity-related activities among Tailors) was directionally correct, but not significant, and Tailor-Smith differences in basic physique variables were nil. Study 2 examined two large total-population-of-interest datasets (Austria/Germany combined, and UK: N = 7001 and 20,532) of men's national high-score lists for track-and-field events requiring different physiques. In both datasets, proportions of Smiths significantly increased from light-stature over medium-stature to heavy-stature sports categories. The predicted counterpart effect (decreasing prevalences of Tailors along these categories) was not supported. Related prior findings, the viability of possible alternative interpretations of the evidence (differential positive selection for trades and occupations, differential endogamy and assortative mating patterns, implicit egotism effects), and directions for further inquiry are discussed in conclusion.

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

PubMed

Chen, Chih-Ping; Lin, Shuan-Pei; Lin, Chyi-Chyang; Chen, Yann-Jang; Chern, Schu-Rern; Li, Yueh-Chun; Hsieh, Lie-Jiau; Lee, Chen-Chi; Pan, Chen-Wen; Wang, Wayseen

2006-07-15

An 11-year-old girl presented with the phenotype of microcephaly, moderate mental retardation, motor retardation, short stature, strabismus, brachydactyly, and facial dysmorphism. She had undergone surgery for inguinal hernias. Detailed examinations of the heart and other internal organs revealed normal findings. Her karyotype was 46,XX,dup(5)(q35.2q35.3) de novo. Molecular cytogenetic analysis showed a paternally derived 5q35.2 --> q35.3 direct duplication and led to a correlation between the particular genotype and phenotype. This is the first description of a direct duplication of 5q35.2 --> q35.3. Our case represents the smallest distal duplication of chromosome 5q that is not associated with congenital heart defects. Our case also represents the smallest distal duplication of chromosome 5q that is associated with short stature and microcephaly. Mutations or deletions of the NSD1 gene, mapped to 5q35.2 --> q35.3, has been known to cause Sotos syndrome with cerebral gigantism, macrocephaly, advanced bone age and overgrowth. Our case provides evidence that the gene dosage effect of the NSD1 gene causes a reversed phenotype of microcephaly and short stature. Copyright 2006 Wiley-Liss, Inc.

Sex Differences in the Impact of Thinness, Overweight, Obesity, and Parental Height on Adolescent Height.

PubMed

Pinhas-Hamiel, Orit; Reichman, Brian; Shina, Avi; Derazne, Estela; Tzur, Dorit; Yifrach, Dror; Wiser, Itay; Afek, Arnon; Shamis, Ari; Tirosh, Amir; Twig, Gilad

2017-08-01

The secular trend of increasing weight may lead to a decline in height gain compared with the genetic height potential. The impact of weight on height in healthy male and female adolescents compared with their genetic height was assessed. Height and weight were measured in Israeli adolescent military recrutees aged 16-19 years between 1967 and 2013. The study population comprised 355,229 recrutees for whom parental height measurements were documented. Subjects were classified into four body mass index percentile groups according to the U.S. Centers for Disease Control and Prevention body mass index percentiles for age and sex:<5th (underweight), 5th-49th (low-normal), 50th-84th (high-normal), and ≥85th (overweight-obese). Short stature was defined as height ≤ third percentile and tall stature as height ≥ 90th percentile for age and sex. Overweight-obese females had a 73% increased risk for short stature (odds ratio [OR]: 1.73, 95% confidence interval [CI] = 1.51-1.97, p < .001). Conversely, underweight females had a 56% lower risk of short stature (OR: .44, 95% CI = .28-.70, p = .001) and a twofold increased risk for being tall (OR: 2.08, 95% CI = 1.86-2.32, p < .001). Overweight-obese males had a 23% increased risk of being short (OR: 1.23, 95% CI = 1.10-1.37, p < .001). Underweight females were on average 4.1 cm taller than their mid-parental height. Overweight-obese males and females had an increased risk of being short, and underweight females were significantly taller compared with their genetic height. The significantly increased height among underweight healthy females may reflect a potential loss of height gain in overweight-obese females. Copyright © 2017 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

PubMed Central

Chen, D.-H.; Sul, Y.; Weiss, M.; Hillel, A.; Lipe, H.; Wolff, J.; Matsushita, M.; Raskind, W.; Bird, T.

2010-01-01

Background: Recently, mutations in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4) have been reported in Charcot-Marie-Tooth Type 2C (CMT2C) with vocal cord paresis. Other mutations in this same gene have been described in separate families with various skeletal dysplasias. Further clarification is needed of the different phenotypes associated with this gene. Methods: We performed clinical evaluation, electrophysiology, and genetic analysis of the TRPV4 gene in 2 families with CMT2C. Results: Two multigenerational families had a motor greater than sensory axonal neuropathy associated with variable vocal cord paresis. The vocal cord paresis varied from absent to severe, requiring permanent tracheotomy in 2 subjects. One family with mild neuropathy also manifested pronounced short stature, more than 2 SD below the average height for white Americans. There was one instance of dolichocephaly. A novel S542Y mutation in the TRPV4 gene was identified in this family. The other family had a more severe, progressive, motor neuropathy with sensory loss, but less remarkable short stature and an R315W mutation in TRPV4. Third cranial nerve involvement and sleep apnea occurred in one subject in each family. Conclusion: CMT2C with axonal neuropathy, vocal cord paresis, and short stature is a unique syndrome associated with mutations in the TRPV4 gene. Mutations in TRPV4 can cause abnormalities in bone, peripheral nerve, or both and may result in highly variable orthopedic and neurologic phenotypes. GLOSSARY CMAP = compound muscle action potential; CMT = Charcot-Marie-Tooth; CMT2C = Charcot-Marie-Tooth Type 2C; HMSN = hereditary motor and sensory neuropathy; NCV = nerve conduction velocity; RFLP = restriction fragment length polymorphism; SMA = spinal muscular atrophy; SNAP = sensory nerve action potential; SPSMA = scapuloperoneal spinal muscular atrophy. PMID:21115951

Factors associated with nutritional outcomes in the mother-child dyad: a population-based cross-sectional study.

PubMed

Géa-Horta, Tatiane; Silva, Rita de Cássia Ribeiro; Fiaccone, Rosemeire Leovigildo; Barreto, Maurício Lima; Velásquez-Meléndez, Gustavo

2016-10-01

To estimate factors associated with double burden of nutritional outcomes in the mother-child dyad at the household level (child stunting and/or maternal overweight). Cross-sectional study using the Brazilian Demographic and Health Survey. Nutritional outcomes were: mother with normal weight and child with normal height; overweight mother and child with normal height; mother with normal weight and short-stature child; and overweight mother and child with short stature (double burden). The child was classified as short when height-for-age Z-score was <-2 and the mother as overweight when BMI was ≥25·00 kg/m2. Socio-economic status, environment, social vulnerability, maternal characteristics and the child's food intake were the exposure factors. The hierarchical approach for multinomial logistic regression modelling was used to assess the associations. National Demographic and Health Survey of Children and Women conducted in Brazil, 2006-2007. Mother-child dyads (n 3676). After adjustments, lower maternal educational level (OR=3·53; 95 % CI 1·33, 9·33) and inadequate household (non-masonry house; OR=2·54; 95 % CI 1·39, 4·66) were associated with the double burden of malnutrition. Mother's short stature (OR=3·41; 95 % CI 1·76, 6·61), child's vegetable intake on less than or equal to 4 d/week (OR=2·21; 95 % CI 1·03, 4·75) and inadequate household (non-masonry house; OR=2·29; 95 % CI 1·36, 3·87) were associated with child's short stature. The lack of breast-feeding (OR=2·00; 95 % CI 1·07, 3·72) was associated with maternal overweight. The present findings contribute to establishing strategies promoting health and healthy diets, by considering the growth deficit and overweight/obesity concomitantly.

ETHNICITY AND INCOME IMPACT ON BMI AND STATURE OF SCHOOL CHILDREN LIVING IN URBAN SOUTHERN MEXICO.

PubMed

Mendez, Nina; Barrera-Pérez, The Late Mario; Palma-Solis, Marco; Zavala-Castro, Jorge; Dickinson, Federico; Azcorra, Hugo; Prelip, Michael

2016-03-01

Obesity affects quality of life and increases the risk of morbidity and mortality. Mexico, a middle-income country, has a high prevalence of overweight and obesity among urban children. Merida is the most populated and growing city in southern Mexico with a mixed Mayan and non-Maya population. Local urbanization and access to industrialized foods have impacted the eating habits and physical activity of children, increasing the risk of overweight and obesity. This study aimed to contribute to the existing literature on the global prevalence of overweight and obesity and examined the association of parental income, ethnicity and nutritional status with body mass index (BMI) and height in primary school children in Merida. The heights and weights of 3243 children aged 6-12 from sixteen randomly selected schools in the city were collected between April and December 2012. Multinomial logistic regression models were used to examine differences in the prevalence of BMI and height categories (based on WHO reference values) by ethnicity and income levels. Of the total students, 1648 (50.9%) were overweight or obese. Stunting was found in 227 children (7%), while 755 (23.3%) were defined as having short stature. Combined stunting and overweight/obesity was found in 301 students (9.3%) and twelve (0.4%) were classified as stunted and of low weight. Having two Mayan surnames was inversely associated with having adequate height (OR=0.69, p<0.05) and the presence of two Maya surnames in children increased the odds of short stature and stunting. Children from lower income families had twice the odds of being stunted and obese. Overweight, obesity and short stature were frequent among the studied children. A significant proportion of Meridan children could face an increased risk of developing cardiovascular disease and its associated negative economic and social outcomes unless healthier habits are adopted. Action is needed to reduce the prevalence of obesity among southern Mexican families of all ethnic groups, particularly those of lower income.

Impact of growth hormone therapy on adult height of children with idiopathic short stature: systematic review.

PubMed

Deodati, Annalisa; Cianfarani, Stefano

2011-03-11

To systematically determine the impact of growth hormone therapy on adult height of children with idiopathic short stature. Systematic review. Cochrane Central Register of Controlled Trials, Medline, and the bibliographic references from retrieved articles of randomised and non-randomised controlled trials from 1985 to April 2010. Height in adulthood (standard deviation score) and overall gain in height (SD score) from baseline measurement in childhood. Randomised and non-randomised controlled trials with height measurements for adults. Inclusion criteria were initial short stature (defined as height >2 SD score below the mean), peak growth hormone responses >10 μg/L, prepubertal stage, no previous growth hormone therapy, and no comorbid conditions that would impair growth. Adult height was considered achieved when growth rate was <1.5 cm/year or bone age was 15 years in females and 16 years in males. Three randomised controlled trials (115 children) met the inclusion criteria. The adult height of the growth hormone treated children exceeded that of the controls by 0.65 SD score (about 4 cm). The mean height gain in treated children was 1.2 SD score compared with 0.34 SD score in untreated children. A slight difference of about 1.2 cm in adult height was observed between the two growth hormone dose regimens. In the seven non-randomised controlled trials the adult height of the growth hormone treated group exceeded that of the controls by 0.45 SD score (about 3 cm). Growth hormone therapy in children with idiopathic short stature seems to be effective in partially reducing the deficit in height as adults, although the magnitude of effectiveness is on average less than that achieved in other conditions for which growth hormone is licensed. The individual response to therapy is highly variable, and additional studies are needed to identify the responders.

Estimation of total Length of Femur From Its Fragments in South Indian Population.

PubMed

Solan, Shweta; Kulkarni, Roopa

2013-10-01

Establishment of identity of deceased person also assumes a great medicolegal importance. To establish the identity of a person, stature is one of the criteria. To know stature of individual, length of long bones is needed. To determine the lengths of the femoral fragments and to compare with the total length of femur in south Indian population, which will help to estimate the stature of the individual using standard regression formulae. A number of 150, 72 left and 78 right adult fully ossified dry processed femora were taken. The femur bone was divided into five segments by taking predetermined points. Length of five segments and maximum length of femur were measured to the nearest millimeter. The values were obtained in cm [mean±S.D.] and the mean total length of femora on left and right side was measured. The proportion of segments to the total length was also calculated which will help for the stature estimation using standard regression formulae. The mean total length of femora on left side was 43.54 ± 2.7 and on right side it was 43.42 ± 2.4. The measurements of the segments-1, 2, 3, 4 and 5 were 8.06± 0.71, 8.25± 1.24, 10.35 ± 2.21, 13.94 ± 1.93 and 2.77 ± 0.53 on left side and 8.09 ± 0.70, 8.30 ± 1.34, 10.44 ± 1.91, 13.50 ± 1.54 and 3.09 ± 0.41 on right side of femur. The sample size was 150, 72 left and 78 right and 'p' value of all the segments was significant (‹0.001). When comparison was made between segments of right and left femora, the 'p' value of segment-5 was found to be ‹0.001. Comparison between different segments of femur showed significance in all the segments.

Patterns of linear growth and skeletal maturation from birth to 18 years of age in overweight young adults.

PubMed

Johnson, W; Stovitz, S D; Choh, A C; Czerwinski, S A; Towne, B; Demerath, E W

2012-04-01

To estimate differences in skeletal maturity and stature from birth to age 18 years between individuals who are overweight vs normal weight in young adulthood. Weight, length and height, and relative skeletal age (skeletal-chronological age) were assessed annually from birth to age 18 years in 521 subjects (255 women) in the Fels Longitudinal Study who were overweight or obese (body mass index (BMI) >25 kg m(-2), n=131) or normal weight (n=390) in young adulthood (18-30 years). Generalized estimating equations were used to test for skeletal maturity and stature differences by young adult BMI status. Differences in height increased during puberty, being significant for girls at ages 10 to 12 years, and for boys at ages 11 to 13 years (P-values<0.001), with overweight or obese adults being ∼3 cm taller at those ages than normal weight adults. These differences then diminished so that by age 18 years, overweight or obese adults were not significantly different in stature to their normal weight peers. Differences in skeletal maturity were similar, but more pervasive; overweight or obese adults were more skeletally advanced throughout childhood. Skeletal maturity differences peaked at chronological age 12 in boys and 14 in girls (P-values<0.001), with overweight or obese adults being ∼1 year more advanced than normal weight adults. This descriptive study is the first to track advanced skeletal maturity and linear growth acceleration throughout infancy, childhood and adolescence in individuals who become overweight, showing that differences occur primarily around the time of the pubertal growth spurt. Increased BMI in children on a path to becoming overweight adults precedes an advancement in skeletal development and subsequently tall stature during puberty. Further work is required to assess the predictive value of accelerated pubertal height growth for assessing obesity risk in a variety of populations.

The prevalence of isolated growth hormone deficiency among children of short stature in Jordan and its relationship with consanguinity.

PubMed

Zayed, Ayman A; Mustafa Ali, Moaath K; Al-Ani, Mohammad A; Momani, Munther S; Yousef, Al-Motassem F

2014-12-01

The prevalence of isolated growth hormone deficiency (IGHD) among short-statured children in Jordan, where consanguineous marriage (CM) is common, is unknown. No studies have investigated the relationship between degrees of consanguinity and IGHD. This study aimed to determine the prevalence of IGHD among short-statured children referred to a university hospital in Jordan and its relationship with different degrees of consanguinity. We conducted a 24-month cross-sectional observational trial at an outpatient tertiary care center in Amman, Jordan. We obtained detailed family histories, medical evaluations and laboratory tests for 94 short-statured children (50 boys and 44 girls aged 6-16 years). Complete and partial GHD were defined as peak GH responses of 5 and 7 μg/l (15 and 21 mIU/l) [IRMA/DiaSorin®], respectively, in both exercise and insulin tolerance tests. GHD was diagnosed in 69·1% of the short children, including 86% (43/50) of the children of consanguineous parents (83·3%, 93·8% and 81·8% of children of first cousins, first cousins once removed and second cousins, respectively) and 50% (20/44) of the children of nonconsanguineous parents (P = 0·039, 0·002 and 0·013, respectively). However, there was no statistically significant difference in the prevalence of small pituitary MRI between GH-deficient children of consanguineous parents and those of nonconsanguineous parents (28·6% vs 13·6%, P = 0·3). The prevalence of IGHD among referred short children in Jordan was exceptionally high and significantly higher in the children of CM. In countries where CM is common, preconception counselling and rigorous surveillance for GHD in short children may be indicated. © 2014 John Wiley & Sons Ltd.

Maternal Depressive Symptoms and Attained Size Among Children in the First 2 Years of Life.

PubMed

Strobino, Donna M; Ahmed, Saifuddin; Mistry, Kamila; Wasserman, Ellen; Hossain, Mian B; Minkovitz, Cynthia

2016-01-01

To evaluate the relation of maternal depressive symptoms with attained size and whether it is stronger for young children in low-income families. Secondary analysis was performed of longitudinal data from enrollment and parents surveys from the Healthy Steps for Young Children National Evaluation among 4745 children who made at least one visit to a Healthy Steps site. Length and weight data from medical records were converted to z scores and percentiles for length for age and weight for length at 6, 12, and 24 months using 2000 Centers for Disease Control and Prevention growth standards. Analyses evaluated the relation of maternal depressive symptoms at 2 to 4 months using a modified 14-item Center for Epidemiologic Depression Scale with attained size and child, maternal, and family characteristics. Regression models estimated the relation of symptoms with z scores and logistic regression the relation for short stature (below 10th percentile for length for age), adjusted for covariates. Maternal depressive symptoms were associated with z scores for length for age at 6, 12, and 24 months and short stature at 6 and 24 months for children in low/middle-income families. The z scores at 24 months remained significantly lower for children in low/middle-income families whose mothers reported depressive symptoms, after adjustment for covariates. The odds of short stature were significantly increased at 6 months in the total sample and among low/middle-income families for children whose mothers reported symptoms. Other measures of attained size were not associated with depressive symptoms. The link between maternal symptoms and young children's risk of short stature reinforces recommendations for increased screening for postpartum depressive symptoms and for clinicians to review growth charts with parents for impaired/unfavorable patterns. Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

PubMed

Li, Chuan; Chen, Rongyu; Fan, Xin; Luo, Jingsi; Qian, Jiale; Wang, Jin; Xie, Bobo; Shen, Yiping; Chen, Shaoke

2015-04-11

Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. We reported a 4-year and 6 month-old boy with a rare combination of WS1 and severe short stature (83.5 cm (-5.8SD)). His facial features include dystopia canthorum, mild synophrys, slightly up-slanted palpebral fissure, posteriorly rotated ears, alae nasi hypoplasia and micrognathia. No heterochromia was noticed. He had a normal intelligence quotient and hearing. Insulin-like growth factor-1 (IGF-1) was 52.7 ng/ml, lower than the normal range (55 ~ 452 ng/ml) and the peak growth hormone level was 7.57 ng/ml at 90 minutes after taking moderate levodopa and pyridostigmine bromide. The patient exhibited a good response to human growth hormone (rhGH) replacement therapy, showing a 9.2 cm/year growth rate and an improvement of 1 standard deviation (SD) of height after one year treatment. CMA test of patient's DNA revealed a 4.46 Mb de novo deletion at 2q35-q36.2 (hg19; chr2:221,234,146-225,697,363). PAX3 haploinsufficiency is known to cause Waardenburg syndrome. Examining overlapping deletions in patients led to the conclusion that EPHA4 is a novel short stature gene. The finding is supported by the splotch-retarded and epha4 knockout mouse models which both showed growth retardation. We believe this rare condition is caused by the haploinsufficiency of both PAX3 and EPH4 genes. We further reported a growth response to recombinant human growth hormone treatment in this patient.

Influence of maternal stature, pregnancy age, and infant birth weight on growth during childhood in Yucatan, Mexico: a test of the intergenerational effects hypothesis.

PubMed

Varela-Silva, Maria Inês; Azcorra, Hugo; Dickinson, Federico; Bogin, Barry; Frisancho, A R

2009-01-01

In developing nations, obesity has increased dramatically in the last decade, but a high prevalence of stunting still coexists. The intergenerational influences hypothesis (IIH) is one explanation for this. We test the IIH regarding variation in maternal stature, mother's age at pregnancy, and infant birth weight in relation to risk for overweight and stunting in 206 Maya children (4-6 years old) from Mérida, Yucatan, Mexico. The Maya children are compared with growth references (Frisancho 2008: Anthropometric Standards: An Interactive Nutritional Reference of Body Size and Body Composition for Children and Adults. Ann Arbor, MI: The University of Michigan Press. 335 pp) for height, weight, and body mass index (BMI). Almost 70% of the mothers are shorter than 150 cm. Mothers' height and child's birth weight predict overweight. Children with a mother shorter than 150 cm are less than half as likely (OR = 0.44) to be overweight compared to children whose mothers are equal to or taller than 150 cm. Children with birth weights below 3,000 g are only a third as likely to be overweight (OR = 0.28) than their peers within the range of normal birth weight (3,000-3,500 g). Sex of the child, mother's height, and birth weight predict stunting. Girls are only 40% as likely as boys to be stunted. Children with a mother below 150 cm are 3.6 times more likely of being stunted. Children with birth weights below 3000 g are over 3 times more likely to be stunted relative to children with birth weights within the normal range. Mother's age at pregnancy is not a predictor of overweight or stunting. Our findings conform the IIH and with similar studies of populations undergoing nutritional/epidemiological transitions from traditional to globalized lifestyles.

Developmental programming of growth: genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination.

PubMed

Timasheva, Y; Putku, M; Kivi, R; Kožich, V; Männik, J; Laan, M

2013-11-01

Given the physiological role of placental growth hormone (PGH) during intrauterine development and growth, genetic variation in the coding Growth hormone 2 (GH2) gene may modulate developmental programming of adult stature. Two major GH2 variants were described worldwide, determined by single polymorphism (rs2006123; c.171 + 50C > A). We sought to study whether GH2 variants may contribute to adult anthropometric measurements. Genotyping of GH2 SNP rs2006123 by RFLP, testing its genetic association with adult height and Body Mass Index (BMI) by linear regression analysis, and combining the results of three individual study samples in meta-analysis. HYPEST (Estonia), n = 1464 (506 men/958 women), CADCZ (Czech), n = 871 (518/353); UFA (Bashkortostan), n = 954 (655/299); meta-analysis, n = 3289 (1679/1610). Meta-analysis across HYPEST, CADCZ and UFA samples (n = 3289) resulted in significant association of GH2 rs2006123 with height (recessive model: AA-homozygote effect: beta (SE) = 1.26 (0.46), P = 5.90 × 10⁻³; additive model: A-allele effect: beta (SE) = 0.45 (0.18), P = 1.40 × 10⁻²). Among men (n = 1679), the association of the A-allele with taller stature remained significant after multiple-testing correction (additive effect: beta = 0.86 (0.28), P = 1.83 × 10⁻³). No association was detected with BMI. Notably, rs2006123 was in strong LD (r² ≥ 0.87) with SNPs significantly associated with height (rs2665838, rs7209435, rs11658329) and mapped near GH2 in three independent meta-analyses of GWA studies. This is the first study demonstrating a link between a placental gene variant and programming of growth potential in adulthood. The detected association between PGH encoding GH2 and adult height promotes further research on the role of placental genes in prenatal programming of human metabolism. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

AHP based Anthropometric Analysis of University Hall Bed Design in Bangladesh

NASA Astrophysics Data System (ADS)

Halder, Pobitra; Sarker, Eity; Karmaker, Chitralekha

2018-05-01

In university hall, different types of bed are used for providing sleeping environment to the students. Although there are wide variations in the design of students' bed in Bangladeshi university hall, none of them are designed properly considering the anthropometric data. In this study, four anthropometric measurements related to normal students' bed dimensions were measured from 300 students from a public university hall in Bangladesh. The feedbacks regarding different health problems and their reasons were collected from considering practical situations of the students and gathering experts' opinions. Chi-square test showed that back pain, blood circulation problem, fatigue, comfort, and sleeping problem are related to students' anthropometric measurements. The analytic hierarchy process (AHP) analysis identified students' bed length as the most responsible attribute for ergonomic problems of the students. Finally, the linear regression and correlation analysis suggested the bed dimensions based on stature of the students. This study can be a helpful guideline for industrial engineers and manufacturers in designing more comfortable students' bed.

[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].

PubMed

Li, Juan; Ding, Yu; Chang, Guoying; Cheng, Qing; Li, Xin; Wang, Jian; Wang, Xiumin; Shen, Yiping

2017-02-10

To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin. A complete uniparental disomy of chromosome 16 was revealed by CMA. WES has identified a novel homozygous mutation c.67A>G (p.Lys23Glu) in ORC6 gene mapped to chromosome 16. As predicted by Alamut functional software, the mutation may affect the function of structural domain of the ORC6 protein. The patient is probably the first diagnosed MGS case in China, who carried a novel homozygous mutation of the ORC6 gene and uniparental disomy of chromosome 16. The effect of this novel mutation on the growth and development needs to be further investigated.

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.

PubMed

Nam, Hyo-Kyoung; Nam, Myung-Hyun; Ha, Kee-Soo; Rhie, Young-Jun; Lee, Kee-Hyoung

2017-03-01

Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c.2810G >A variation in the FBN1 gene in the patient, but not in her parents. To our knowledge, this sequence variant has been reported as a polymorphism (rs113602180), but it is the first report identifying it as the genetic cause of Marfan syndrome. We hypothesize that this de novo novel missense FBN1 mutation disrupts fibrillin-1 function and is probably involved in the development of Marfan syndrome in this patient. © 2017 by the Association of Clinical Scientists, Inc.

A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement.

PubMed

Mégarbané, André; Ghanem, Ismat; Waked, Naji; Dagher, Fernand

2006-07-15

This report describes a young girl and her cousin presenting with postnatal short stature, strabismus, photophobia, retinitis pigmentosa, short neck, rhizomelic shortening of the long bones, short and slightly bowed humeri with prominent deltoid tuberosities, short and wide ribs and clavicles, dorso-lumbar scoliosis, biconcave vertebral bodies of the thoraco-lumbar spine, and narrowed lumbar canal. In addition, in the girl there were amelogenesis imperfecta of the hypomaturation type, and the radiographs showed short distal ulnae, sloping epiphyses of the radii, short femoral necks, and slightly flat uncovered femoral heads. The children's parents are first cousins. Differential diagnoses are discussed and the possibility of a newly recognized oculo-skeletal syndrome is raised. Copyright 2006 Wiley-Liss, Inc.

Different approaches in the molecular analysis of the SHOX gene dysfunctions.

PubMed

Stuppia, L; Gatta, V; Antonucci, I; Giuliani, R; Palka, G

2010-06-01

Deficit of the short stature homeobox containing gene (SHOX) accounts for 2.15% of cases of idiopathic short stature (ISS) and 50-100% of cases of Leri-Weill dyschondrosteosis (LWD). It has been demonstrated that patients with SHOX deficit show a good response to treatment with GH. Thus, the early identification of SHOX alterations is a crucial point in order to choose the best treatment for ISS and LWD patients. In this study, we analyze the most commonly used molecular techniques for the detection of SHOX gene alterations. multiple ligation-dependent probe amplification analysis appears to represent the gold standard for the detection of deletion involving the SHOX gene or the enhancer region, being able to show both alterations in a single assay.

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.

PubMed

Perrone, M D; Rocca, M S; Bruno, I; Faletra, F; Pecile, V; Gasparini, P

2012-02-01

Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not yet defined. In this report, we describe a 7 years old male with mental retardation, cryptorchid testes, short stature and alopecia carrying only an interstitial de novo deletion of 911 Kb in the 1q43 region (239,597,095-240,508,817) encompassing three genes CHRM3, RPS7P5 and FMN2. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Empty sella associated with growth hormone deficiency and polydactyly.

PubMed

Jurcă, Maria Claudia; Bembea, Marius; Kozma, Kinga; Şandor, Mircea Ioan; Negrean, Rodica Anamaria; Dobjanschi, Luciana; Cuc, Emilia Albiniţa; Petcheşi, Codruţa Diana; Jurcă, Alexandru Daniel

2018-01-01

Empty sella means the absence of the pituitary gland on cranial computed tomography or magnetic resonance imaging. Empty sella syndrome is the pathological variant of the imaging-described empty sella. We present the case of a male Caucasian child, aged four years and two months, for short stature and diagnosed by imaging procedures as empty sella. The cause of short stature was isolated growth hormone (GH) deficiency. Associated he presented left hand postaxial polydactyly. In connection with this particular case, we propose a review of current knowledge in empty sella syndrome. The particularity of reported case consists of association empty sella with GH deficiency and polydactyly. The association of empty sella with polydactyly is not reported yet in the medical literature and is probably coincidental.

Rathke's cyst with ectopic neurohypophysis presenting as severe short stature with delayed puberty.

PubMed

Dutta, Deep; Roy, Ajitesh; Ghosh, Sujoy; Mukhopadhyay, Pradip; Dasgupta, Ranen; Mukhopadhyay, Satinath; Chowdhury, Subhankar

2012-12-01

Ectopic neurohypophysis (EN) is found in nearly half of children with growth hormone deficiency (GHD). Rathke's cyst (RC) is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC. This is perhaps the first report of simultaneous occurrence of EN and RC, which was seen in a girl with multiple pituitary hormone deficiency. A primary defect in pituitary development may explain this simultaneous occurrence of EN and RC and hence this severe anterior pituitary function deficit.

Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

PubMed

Cauwels, R G E C; De Coster, P J; Mortier, G R; Marks, L A M; Martens, L C

2005-08-01

The follow-up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed tooth eruption, mild mental retardation, proportionate short stature, sensorineural hearing loss and dysmorphic facies may represent a new syndrome with autosomal recessive inheritance. Histological examination of the dentin matrix of a permanent molar from one of the siblings reveals morphological similarities with defective dentinogenesis as presenting in patients affected with Osteogenesis Imperfecta (OI), a condition caused by deficiency of type I collagen. A number of radiographic and histological characteristics, however, are inconsistent with classical features of DI. These findings suggest that DI may imply greater genetical heterogeneity than currently assumed.

Legume species differ in the responses of their functional traits to plant diversity.

PubMed

Roscher, Christiane; Schmid, Bernhard; Buchmann, Nina; Weigelt, Alexandra; Schulze, Ernst-Detlef

2011-02-01

Plants can respond to environmental impacts by variation in functional traits, thereby increasing their performance relative to neighbors. We hypothesized that trait adjustment should also occur in response to influences of the biotic environment, in particular different plant diversity of the community. We used 12 legume species as a model and assessed their variation in morphological, physiological, life-history and performance traits in experimental grasslands of different plant species (1, 2, 4, 8, 16 and 60) and functional group (1-4) numbers. Mean trait values and their variation in response to plant diversity varied among legume species and from trait to trait. The tall-growing Onobrychis viciifolia showed little trait variation in response to increasing plant diversity, whereas the species with shorter statures responded in apparently adaptive ways. The formation of longer shoots with elongated internodes, increased biomass allocation to supporting tissue at the cost of leaf mass, reduced branching, higher specific leaf areas and lower foliar δ(13)C values indicated increasing efforts for light acquisition in more diverse communities. Although leaf nitrogen concentrations and shoot biomass:nitrogen ratios were not affected by increasing plant diversity, foliar δ(15)N values of most legumes decreased and the application of the (15)N natural abundance method suggested that they became more reliant on symbiotic N(2) fixation. Some species formed fewer inflorescences and delayed flowering with increasing community diversity. The observed variation in functional traits generally indicated strategies of legumes to optimize light and nutrient capturing, but they were largely species-dependent and only partly attributable to increasing canopy height and community biomass with increasing plant diversity. Thus, the analysis of individual plant species and their adjustment to growth conditions in communities of increasing plant diversity is essential to get a deeper insight into the mechanisms behind biodiversity-ecosystem functioning relationships.

Skeletal variation among early Holocene North American humans: implications for origins and diversity in the Americas.

PubMed

Auerbach, Benjamin M

2012-12-01

The movement of humans into the Americas remains a major topic of debate among scientific disciplines. Central to this discussion is ascertaining the timing and migratory routes of the earliest colonizers, in addition to understanding their ancestry. Molecular studies have recently argued that the colonizing population was isolated from other Asian populations for an extended period before proceeding to colonize the Americas. This research has suggested that Beringia was the location of this "incubation," though archaeological and skeletal data have not yet supported this hypothesis. This study employs the remains of the five most complete North American male early Holocene skeletons to examine patterns of human morphology at the earliest observable time period. Stature, body mass, body breadth, and limb proportions are examined in the context of male skeletal samples representing the range of morphological variation in North America in the last two millennia of the Holocene. These are also compared with a global sample. Results indicate that early Holocene males have variable postcranial morphologies, but all share the common trait of wide bodies. This trait, which is retained in more recent indigenous North American groups, is associated with adaptations to cold climates. Peoples from the Americas exhibit wider bodies than other populations sampled globally. This pattern suggests the common ancestral population of all of these indigenous American groups had reduced morphological variation in this trait. Furthermore, this provides support for a single, possibly high latitude location for the genetic isolation of ancestors of the human colonizers of the Americas. Copyright © 2012 Wiley Periodicals, Inc.

Body frame dimensions are related to obesity and fatness: Lean trunk size, skinfolds, and body mass index.

PubMed

Henneberg, Maciej; Ulijaszek, Stanley J

2010-01-01

We explore relationships between BMI and skinfolds and anthropometric variables reflecting variation in lean body frame. Data on the middle class adult Australian women (n = 1260) collected in 2002 during a National Body Size and Shape Survey were used. Standard measurements of stature, weight, skeletal dimensions (shoulder width, hip width, chest width, and depth, limb lengths), circumferences of head, trunk, limbs and triceps, subscapular and abdominal skinfolds were taken. Techniques for measurements of skeletal frame minimized the inclusion of adipose tissue thickness. Analysis of variance and parametric and nonparametric correlations were used. Vertical dimensions show weak correlations with fatness, while body frame circumferences and transverse dimensions are consistently, significantly, and substantially correlated with fatness, each explaining from 3 to 44% of variation in skinfold thickness. Skeletal dimensions explain up to 50% of variation in skinfold thickness (multiple regression). Especially high correlations with skinfold thickness occur for chest width, depth, and hip width (r range from 0.42 to 0.66). Body frame dimensions reflect largely trunk volume and the trunk/limb proportions. Larger lean trunk size is associated with greater fatness. Since the size of the abdominal cavity, and thus the gastrointestinal system (GI), is reflected in the trunk size, we speculate that larger frame may predispose to obesity in two ways: (1) larger stomachs require greater bulk of food to produce feeling of satiety as mediated through antral distension, (2) larger GIs may absorb more nutrients. Frame size may help to detect the risk of obesity among young adults. 2009 Wiley-Liss, Inc.

Relevance of discrete traits in forensic anthropology: From the first cervical vertebra to the pelvic girdle.

PubMed

Verna, Emeline; Piercecchi-Marti, Marie-Dominique; Chaumoitre, Kathia; Adalian, Pascal

2015-08-01

In forensic anthropology, identification begins by determining the sex, age, ancestry and stature of the individuals. Asymptomatic variations present on the skeleton, known as discrete traits, can be useful to identify individuals, or at least contribute to complete their biological profile. We decided to focus our work on the upper part of the skeleton, from the first vertebra to the pelvic girdle, and we chose to present 8 discrete traits (spina bifida occulta, butterfly vertebra, supraclavicular nerve foramen, coracoclavicular joint, os acromiale, suprascapular foramen, manubrium foramen and pubic spine), because they show a frequency lower than 10%. We examined 502 anonymous CT scans from polytraumatized individuals, aged 15 to 65 years, in order to detect the selected discrete traits. Age and sex were known for each subject. Thin sections in the axial, coronal and sagittal planes and 3D volume rendering images were created and examined for the visualization of the selected discrete traits. Supraclavicular foramina were found only in males and only on the left clavicle. Coracoclavicular joints were observed only in males. The majority of individuals with a suprascapular foramen were older than 50 years of age. Pubic spines were observed mostly in females. Other traits did not present significant association with sex, age and laterality. No association between traits was highlighted. Better knowledge of human skeletal variations will help anthropologists come closer to a positive identification, especially if these variations are rare, therefore making them more discriminant. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

[Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].

PubMed

Xing, Ya; Ji, Xing; Xiao, Bing; Jiang, Wen-ting; Hu, Qin; Hu, Juan; Cao, Ying; Tao, Jiong

2012-08-01

To characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients. Clinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene. PCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient. Combined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

Resting energy expenditure in girls with Turner syndrome.

PubMed

Binder, Gerhard; Frank, Laura; Ziegler, Julian; Blumenstock, Gunnar; Schweizer, Roland

2017-03-01

Knowledge concerning energy metabolism in Turner syndrome (TS) is lacking. We compared the resting energy expenditure per fat-free mass (REE/FFM) in TS with other girls with short stature treated with growth hormone (GH) and age-related controls. We measured prospectively REE by spirometry under fasting conditions in the morning in 85 short prepubertal girls at the start of GH treatment. Diagnoses were TS (n=20), GH deficiency (GHD) (n=38) and small for gestational age (SGA) short stature (n=27). Additionally, 20 age-related controls were studied. Mean ages were 8.3 (TS), 7.1 (GHD), 6.9 (SGA) and 8.5 years (controls). Mean heights were -2.90 (TS), -3.32 (GHD), -3.69 (SGA) and -0.03 standard deviation scores (SDS) (controls). FFM was measured by bioelectrical impedance analysis (BIA). At the start of GH girls with TS showed insignificantly higher REE per FFM (REE/FFM) (mean±SD; 65±9 kcal/kg×day) than did the other female patients (62±9 kcal/kg×day) (p>0.23). The healthy controls had significantly lower REE/FFM (35±4 kcal/kg×day) (p<0.001). Follow-up examination of the patients after 6 or 12 months revealed decreasing REE/FFM in TS (62±9 kcal/kg×day) resulting in comparable REE/FFM in all three patient groups. At baseline short girls with TS had insignificantly higher REE/FFM than short children with SGA or GHD, but in follow-up this difference was not detectable any more. Future studies are necessary to understand this observation.

Assortative mating for human height: A meta‐analysis

PubMed Central

Simons, Mirre J.P.; Grasman, Sara; Pollet, Thomas V.

2016-01-01

Abstract Objectives The study of assortative mating for height has a rich history in human biology. Although the positive correlation between the stature of spouses has often been noted in western populations, recent papers suggest that mating patterns for stature are not universal. The objective of this paper was to review the published evidence to examine the strength of and universality in assortative mating for height. Methods We conducted an extensive literature review and meta‐analysis. We started with published reviews but also searched through secondary databases. Our search led to 154 correlations of height between partners. We classified the populations as western and non‐western based on geography. These correlations were then analyzed via meta‐analytic techniques. Results 148 of the correlations for partner heights were positive and the overall analysis indicates moderate positive assortative mating (r = .23). Although assortative mating was slightly stronger in countries that can be described as western compared to non‐western, this difference was not statistically significant. We found no evidence for a change in assortative mating for height over time. There was substantial residual heterogeneity in effect sizes and this heterogeneity was most pronounced in western countries. Conclusions Positive assortative mating for height exists in human populations, but is modest in magnitude suggesting that height is not a major factor in mate choice. Future research is necessary to understand the underlying causes of the large amount of heterogeneity observed in the degree of assortative mating across human populations, which may stem from a combination of methodological and ecological differences. PMID:27637175

The impact of caste on the growth of male Sikhs in Punjab, India.

PubMed

Singh, L P; Harrison, G A

1997-01-01

This study is based on a cross-sectional sample of 442 Sikh boys and young male adults who were born in and around the town of Phagwara, in the state of Punjab, India, and stayed there all their lives. The sample comprised Sikh boys at three crucial phases of growth, at 5-6, 10-11 and 15-16 years, and young adults around 18 years of age. The sample comprised three distinct caste groups, viz. Jats, Ramgarhias and Ravidassias, belonging respectively to upper, middle and lower socioeconomic strata of the Sikh community. Differences in stature and body weight are particularly marked around early adolescence, and there is some indication of caste differences reappearing in young adults. In the case of body mass index, however, the differences seem most marked in late adolescence. There is no clear directional pattern to the way skinfolds change, but inter-caste differences become more marked with age. There is a suggestion of continuing growth beyond 16 years of age, and indications that the well-off groups grow more, as compared to the poor groups, during this period. Comparisons of young adults with older groups of the same caste indicate an increase in body weight with age, but smaller stature in the older groups. There is thus evidence for a secular stature increase among present-day Punjabi Sikhs.

Classification and identification of inherited brachydactylies

PubMed Central

Fitch, Naomi

1979-01-01

A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-1 can be characterised by a proportionate reduction of the middle phalanges. Type B is thought to be an amputation-like defect. In type C the fourth middle phalanx is usually the longest, and type E (Riccardi and Holmes, 1974) is characterised by short metacarpals and short distal phalanges. Short stature is usually present in type A-1 and type E brachydactyly (Riccardi and Holmes, 1974) and it may be present in some individuals with brachydactyly C. As short children have short hands, it is possible that in patients with very mild expressions of brachydactyly the cause of the short stature may be overlooked. It is suggested that in every child with proportionate short stature the hands should be carefully examined. If the hands are disproportionately short, if any distal creases are missing, if there is a shortening, however mild, of any finger, if any metacarpals are short, then it is important to have ϰ-rays to look for brachydactyly A-1, C, or E. Much information is still needed. It is important in future reports to have skeletal surveys, pattern profile analyses, and to note the height of children with brachydactyly C. Most interesting of all will be when fetal limbs of each type become available for study. Images PMID:469884

Cross-cultural equivalence of the patient- and parent-reported quality of life in short stature youth (QoLISSY) questionnaire.

PubMed

Bullinger, Monika; Quitmann, Julia; Silva, Neuza; Rohenkohl, Anja; Chaplin, John E; DeBusk, Kendra; Mimoun, Emmanuelle; Feigerlova, Eva; Herdman, Michael; Sanz, Dolores; Wollmann, Hartmut; Pleil, Andreas; Power, Michael

2014-01-01

Testing cross-cultural equivalence of patient-reported outcomes requires sufficiently large samples per country, which is difficult to achieve in rare endocrine paediatric conditions. We describe a novel approach to cross-cultural testing of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire in five countries by sequentially taking one country out (TOCO) from the total sample and iteratively comparing the resulting psychometric performance. Development of the QoLISSY proceeded from focus group discussions through pilot testing to field testing in 268 short-statured patients and their parents. To explore cross-cultural equivalence, the iterative TOCO technique was used to examine and compare the validity, reliability, and convergence of patient and parent responses on QoLISSY in the field test dataset, and to predict QoLISSY scores from clinical, socio-demographic and psychosocial variables. Validity and reliability indicators were satisfactory for each sample after iteratively omitting one country. Comparisons with the total sample revealed cross-cultural equivalence in internal consistency and construct validity for patients and parents, high inter-rater agreement and a substantial proportion of QoLISSY variance explained by predictors. The TOCO technique is a powerful method to overcome problems of country-specific testing of patient-reported outcome instruments. It provides an empirical support to QoLISSY's cross-cultural equivalence and is recommended for future research.

Growth hormone treatment for growth hormone deficiency and idiopathic short stature: new guidelines shaped by the presence and absence of evidence.

PubMed

Grimberg, Adda; Allen, David B

2017-08-01

The Pediatric Endocrine Society recently published new guidelines for the use of human growth hormone (hGH) and human insulin-like growth factor-I (hIGF-I) treatment for growth hormone deficiency, idiopathic short stature, and primary IGF-I deficiency in children and adolescents. This review places the new guidelines in historical contexts of the life cycle of hGH and the evolution of US health care, and highlights their future implications. The new hGH guidelines, the first to be created by the Grading of Recommendations Assessment, Development and Evaluation approach, are more conservative than their predecessors. They follow an extended period of hGH therapeutic expansion at a time when US health care is pivoting toward value-based practice. There are strong supporting evidence and general agreement regarding the restoration of hormonal normalcy in children with severe deficiency of growth hormone or hIGF-I. More complex are issues related to hGH treatment to increase growth rates and heights of otherwise healthy short children with either idiopathic short stature or 'partial' isolated idiopathic growth hormone deficiency. The guidelines-developing process revealed fundamental questions about hGH treatment that still need evidence-based answers. Unless and until such research is performed, a more restrained hGH-prescribing approach is appropriate.

Prevalence of overweight, obesity, abdominal-obesity and short stature of adult population of Rosario, Argentina.

PubMed

Zapata, María Elisa; Bibiloni, María Del Mar; Tur, Josep A

2016-09-20

The aim of this work was to assess the prevalence of overweight, obesity, abdominal-obesity and short stature among Rosario (Argentina) adult population. A cross-sectional nutritional survey was carried out in Rosario (2012-2013). A random sample (n = 1194) of adult population (18-70 years old) was interviewed. Anthropometric measurements and a general questionnaire incorporating questions related to socio-demographic and lifestyle characteristics, education level and physical activity were used. The current study detected a high prevalence of overweight and obesity among adult population in Rosario. The prevalence of overweight was 32.7% (43.9% in men and 27.6% in women, p < 0.001), of obesity was 23.5% (21.6% in men and 24.3% in women), and of abdominal obesity was 57.5% (63.5% in men vs.54.8% in women, p < 0.005). Multivariate analysis showed that the prevalence of overweight/obesity and abdominal obesity increased according the age and abdominal obesity decreased with high physical activity in men. In women prevalence of overweight/obesity, and abdominal obesity increased with age, marital status (married or coupled), presence of at least one child at home and low educational level. The prevalence of short stature was higher in women (16.4% vs. 8.4%, p < 0.001) and was related with age, overweight and abdominal obesity.

[Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012].

PubMed

Galaz-Montoya, Carolina Isabel; García-Delgado, Constanza; Cervantes-Peredo, Alicia; García-Morales, Leticia; Morán-Barroso, Verónica Fabiola

Patients with Silver-Russell syndrome suffer from severe intrauterine and postnatal growth retardation, relative macrocephaly and body asymmetry, among other characteristics. It is caused by several genetic and epigenetic mechanisms in 11p15.5 in 40% of the cases and maternal uniparental disomy of chromosome 7 in 10%. Twenty patients with a diagnosis of Silver-Russell syndrome who were seen at the HIMFG from 1998 to 2012, were evaluated according to international clinical criteria confirming the diagnosis in nine of the subjects. All patients showed intrauterine and postnatal growth retardation and short stature, both considered as major criteria of Silver-Russell syndrome. Relative macrocephaly was present in 78% of the patients and asymmetry in 33%. Other characteristics such as renal tubular acidosis were present > 50% of the cases. The clinical diagnosis of Silver-Russell syndrome is complex. Short stature is the main reason for seeking medical attention and is helpful in the identification of a differential diagnosis. This situation underlines the importance of growth and development evaluation of all patients and particularly in those with short stature to identify those cases that may require molecular studies, with implications in management, prognosis and genetic counseling. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

Ontogenetic changes in size, allometry, and mechanical design of tropical rain forest trees.

PubMed

Sterck, F; Bongers, F

1998-02-01

Size, allometry, and mechanical design were measured for trees of three canopy species in a tropical rain forest in French Guiana. Mechanical design was expressed as the safety factor, using the elastic-stability model, and the wind resistance factor, using the constant-stress model. Changes with ontogeny were described as regressions using stem diameter as the independent variable, and they were compared between species. Height, crown size, and the wind resistance factor increased with ontogeny. The safety factor decreased to a minimum and then increased continuously in thicker trees. The crown width/height ratio did not change with ontogeny. Interspecific differences in allometry and mechanical design were related to the adult stature of the species, and not to shade tolerance. The short stature species (Vouacapoua americana) was less slender (height:DBH [stem diameter at 1.3 m] ratio) and had a higher crown width/height ratio than the tall stature species (Goupia glabra and Dicorynia guianensis). Vouacapoua had a higher safety factor, but a similar wind resistance factor. The safety factors of our study species were lower than those of two temperate tree species because of a higher slenderness. Differences in safety factors between tropical and temperate trees may result from unrealistic assumptions of the elastic-stability model, and may also be related to lower light levels and-or wind rates in the tropics.

Calcium and vitamin D intake and biochemical tests in short-stature children and adolescents.

PubMed

Bueno, A L; Czepielewski, M A; Raimundo, F V

2010-11-01

Growth is highly dependent on the absorption of nutrients. Inadequate calcium and vitamin D intake may compromise bone mineralization and growth. There is a great deal of concern regarding calcium and vitamin D intake, as well as biochemical changes in children and adolescents, which led us to investigate calcium and vitamin D levels during growth. Fifty-eight children and adolescents with short stature (z-score <3 s.d.) were evaluated from September 2005 to February 2007. Blood biochemical analyses and 24-h urine tests were performed and were used to evaluate calcium, phosphorus, creatinine, sodium, alkaline phosphatase, parathyroid hormone (PTH) and 25(OH)D levels. Dietary inquiries, repeated three times, were used to estimate the actual intake of these substances. A reduced calcium (608.6 mg/day) and vitamin D (72.5 IU/day) intake was observed. Calcium excretion in 24-h urine (56 mg/24 h) and calcium excretion by weight (2.0 mg/24 h/kg) showed scores that were below normal. A negative correlation between PTH and both dietary vitamin D (r=-0.46; P<0.01) and calcium intake (r =-0.41; P<0.001) was observed. The low calcium and vitamin D intake observed in short-stature children and adolescents was associated with biochemical results, and suggested that PTH and calcium excretion may be useful screening tests for evaluating dietary calcium and vitamin D.

Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature.

PubMed

Birkebaek, Niels Holtum; Patel, Leena; Wright, Neville Bryce; Grigg, John Russell; Sinha, Smeeta; Hall, Catherine Margaret; Price, David Anthony; Lloyd, Ian Christopher; Clayton, Peter Ellis

2004-10-01

To objectively define criteria for intracranial optic nerve (ON) size in ON hypoplasia (ONH) on magnetic resonance imaging (MRI) scans. Intracranial ON sizes from MRI were compared between 46 children with ONH diagnosed by ophthalmoscopy (group 1, isolated ONH, 8 children; and group 2, ONH associated with abnormalities of the hypothalamic-pituitary axis and septum pellucidum, 38 children) and children with multiple pituitary hormone deficiency (group 3, multiple pituitary hormone deficiency, 14 children), isolated growth hormone deficiency (group 4, isolated growth hormone deficiency, 15 children), and idiopathic short stature (group 5, idiopathic short stature, 10 children). Intracranial ON size was determined by the cross-sectional area, calculated as [pi x (1/2) height x (1/2) width]. Groups 1 and 2 had lower intracranial ON size than did groups 3, 4, and 5 (P < .001). No patients in groups 3 through 5 who had MRI after 12 months of age (when 95% adult size of ONs is attained) had ONs <2.9 mm 2 . Visual acuity correlated significantly with ON size (P < .01). Magnetic resonance imaging of the ONs with cross-sectional area <2.9 mm 2 in a short child more than 12 months of age, with or without hypothalamic-pituitary axis abnormalities, confirms the clinical diagnosis of ONH.

Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment.

PubMed

Child, Christopher J; Kalifa, Gabriel; Jones, Christine; Ross, Judith L; Rappold, Gudrun A; Quigley, Charmian A; Zimmermann, Alan G; Garding, Gina; Cutler, Gordon B; Blum, Werner F

2015-01-01

The short stature homeobox-containing (SHOX) gene is one of many genes that regulate longitudinal growth. The SHOX deficiency (SHOX-D) phenotype, caused by intragenic or regulatory region defects, ranges from normal stature to mesomelic skeletal dysplasia. We investigated differences in radiological anomalies between patients with SHOX-D and Turner syndrome (TS) and the effect of 2 years of growth hormone (GH) treatment on these anomalies. Left hand/wrist, forearm and lower leg radiographs were assessed at baseline and after 2 years in children with genetically confirmed SHOX-D (GH-treated and untreated groups) and TS (GH-treated) in a randomised, controlled, multinational study. Radiological anomalies of hand, wrist and forearm were common in SHOX-D and TS. Radial bowing appeared more prevalent in SHOX-D, while lower leg anomalies were more common in TS. There were no significant differences in radiological findings between GH-treated and untreated patients with SHOX-D after 2 years. GH treatment had no systematic effect on skeletal findings in SHOX-D, based on limited radiological differences between the GH-treated and untreated groups at 2 years. Bone age radiographs allow assessment of radiological signs indicating a potential diagnosis of SHOX-D and may lead to earlier genetic confirmation and initiation of GH therapy. © 2015 S. Karger AG, Basel.

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.

PubMed

Jamsheer, Aleksander; Sowińska-Seidler, Anna; Olech, Ewelina M; Socha, Magdalena; Kozłowski, Kazimierz; Pyrkosz, Antoni; Trzeciak, Tomasz; Materna-Kiryluk, Anna; Latos-Bieleńska, Anna

2016-05-01

Brachydactyly refers to shortening of digits due to hypoplasia or aplasia of bones forming the hands and/or feet. Isolated brachydactyly type E (BDE), which is characterized by shortened metacarpals and/or metatarsals, results in a small proportion of patients from HOXD13 or PTHLH mutations, although in the majority of cases molecular lesion remains unknown. BDE, like other brachydactylies, shows clinical heterogeneity with highly variable intrafamilial and interindividual expressivity. In this study, we investigated two Polish cases (one familial and one sporadic) presenting with BDE and additional symptoms due to novel PTHLH mutations. Apart from BDE, the affected family showed short stature, mild craniofacial dysmorphism and delayed bone age. Sanger sequencing of PTHLH revealed a novel heterozygous frameshift mutation c.258delC(p.N87Tfs*18) in two affected individuals and one relative manifesting mild brachydactyly. The sporadic patient, in addition to BDE, presented with craniofacial dysmorphism, normal stature and bone age, and was demonstrated to carry a de novo heterozygous c.166C>T(p.R56*) mutation. Our paper reports on the two novel truncating PTHLH variants, resulting in variable combination of BDE and other symptoms. Data shown here expand the knowledge on the phenotypic presentation of PTHLH mutations, highlighting significant clinical variability and incomplete penetrance of the PTHLH-related symptoms.

Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature.

PubMed

Dutta, Usha R; Hansmann, Ingo; Schlote, Dietmar

2015-03-01

Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and environmental factors. Chromosomal abnormalities are a major cause of diseases and cytogenetic mapping is one of the powerful tools for the identification of novel disease genes. Here we report a three generation family with a heterozygous pericentric inversion of 46, XX, inv(3) (p24.1q26.1) associated with Short stature. Positional cloning strategy was used to physically map the breakpoint regions by Fluorescence in situ hybridization (FISH). Fine mapping was performed with Bacterial Artificial Chromosome (BAC) clones spanning the breakpoint regions. In order to further characterize the breakpoint regions extensive molecular mapping was carried out with the breakpoint spanning BACs which narrowed down the breakpoint region to 2.9 kb and 5.3 kb regions on p and q arm respectively. Although these breakpoints did not disrupt any validated genes, we had identified a novel putative gene in the vicinity of 3q26.1 breakpoint region by in silico analysis. Trying to find the presence of any transcripts of this putative gene we analyzed human total RNA by RT-PCR and identified transcripts containing three new exons confirming the existence of a so far unknown gene close to the 3q breakpoint. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Anaesthesia for dwarfs and other patients of pathological small stature.

PubMed

Walts, L F; Finerman, G; Wyatt, G M

1975-11-01

Sixty-nine anaesthetics were administered to 29 patients of pathological proportionate and disproportionate small stature. The anaesthetic course in most cases was uncomplicated. The few complications noted were similar in type and severity to those found in normal size patients undergoing similar anaesthesia and operative procedures. Achondroplastic dwarfs often develop neurological problems due to their bony deformities. General anaesthesia should be given preferential consideration in these patients. Non-achondroplastic dwarfs may have an associated odontoid dysplasia and if the neck is placed in flexion there is a potential risk of spinal cord damage. Tube size for proportionately small children is best estimated from body weight. No definite recommendations concerning proper tybe size in dwarfs can be given on the basis of the findings in the study.

Letter to the Editor: History and clinical implications of PAPP-A2 in human growth: When reflecting on idiopathic short stature leads to a specific and new diagnosis: Understanding the concept of "low IGF-I availability".

PubMed

Argente, Jesús; Pérez-Jurado, Luis A

2018-06-01

As a result of our publication of the first patients with short stature due to a mutation in the gene for PAPP-A2 the question, "Why did you continue to study these patients when they were not more than 2 SDS below normal?" has been proposed surprisingly frequently. We would like to communicate our opinions on why these patients were studied and share the experience on how this process took place. In addition, the choice of treatment is also discussed. We believe that this discovery process is a good example of good clinical practice and international collaboration. Copyright © 2018 Elsevier Ltd. All rights reserved.

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.

PubMed

Aharoni, Sharon; Traves, Teres A; Melamed, Eldad; Cohen, Sarit; Silver, Esther Leshinsky

2010-09-15

The syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) is characterized clinically by recurrent focal neurological deficits, epilepsy, and short stature. The phenotypic spectrum is extremely diverse, with multisystemic organ involvement leading to isolated diabetes, deafness, renal tubulopathy, hypertrophic cardiomyopathy, and retinitis pigmentosa. In 80% of cases, the syndrome is associated with an AG transmission mutation (A3243G) in the tRNALeu gene of the mitochondrial DNA (mtDNA). We describe a woman with a unique combination of the MELAS A3243G mutation and multiple mtDNA deletions with normal POLG sequence. The patient presented with diabetes mellitus, sensorineural deafness, short stature, and mental disorientation. All her three children died in early adolescence. 2010 Elsevier B.V. All rights reserved.

Inclusion of Regional Poroelastic Material Properties Better Predicts Biomechanical Behavior of Lumbar Discs Subjected to Dynamic Loading

PubMed Central

Williams, Jamie R.; Natarajan, Raghu N.; Andersson, Gunnar B.J.

2009-01-01

Understanding the relationship between repetitive lifting and the breakdown of disc tissue over several years of exposure is difficult to study in vivo and in vitro. The aim of this investigation was to develop a three-dimensional poroelastic finite element model of a lumbar motion segment that reflects the biological properties and behaviors of in vivo disc tissues including swelling pressure due to the proteoglycans and strain dependent permeability and porosity. It was hypothesized that when modeling the annulus, prescribing tissue specific material properties will not be adequate for studying the in vivo loading and unloading behavior of the disc. Rather, regional variations of these properties, which are known to exist within the annulus, must also be included. Finite element predictions were compared to in vivo measurements published by Tyrrell et al., (Tyrrell et al., 1985) of percent change in total stature for two loading protocols, short-term creep loading and standing recovery and short-term cyclic loading with standing recovery. The model in which the regional variations of material properties in the annulus had been included provided an overall better prediction of the in vivo behavior as compared to the model in which the annulus properties were assumed to be homogenous. This model will now be used to study the relationship between repetitive lifting and disc degeneration. PMID:17156786

High temporal, geographic, and income variation in body mass index among adults in Brazil.

PubMed Central

Sichieri, R; Coitinho, D C; Leão, M M; Recine, E; Everhart, J E

1994-01-01

OBJECTIVES. Population-based data on body mass index for developing countries are scarce. Body mass index data from two Brazilian surveys were examined to determine regional and temporal variations in the prevalences of underweight, overweight, and obesity. METHODS. Nationwide surveys in 1974/75 and 1989 collected anthropometric data in Brazil from 55,000 and 14,455 households, respectively. Trained interviewers used the same methods to measure weight and stature in both surveys, and survey designs were identical. Prevalences of underweight, overweight, and obesity were determined for persons 18 years of age and older. RESULTS. In the 1989 survey, body mass index varied greatly according to region of the country, urbanization, and income. In the wealthier South, the prevalence of overweight/obesity was the highest and the prevalence of underweight was the lowest; in the poorer rural Northeast, these patterns were reversed. For both surveys, overweight/obesity was more common among women than among men and peaked at age 45 to 64 years in both sexes. Over the 15 years between surveys, the prevalence of both overweight and obesity increased strikingly. CONCLUSIONS. In contrast to findings in developed countries, obesity in Brazil was positively associated with income and was much more prevalent among women than among men. For Brazilian women, the overall prevalence of overweight was nearly as high as that among women in the United States. PMID:8179051

Determining gender by taking measurements from magnetic resonance images of the patella.

PubMed

Yasar Teke, Hacer; Ünlütürk, Özge; Günaydin, Elif; Duran, Semra; Özsoy, Sait

2018-05-08

A key step in making a positive identification in forensic medicine is the establishment of a biological profile, which involves determining factors such as gender, age, ancestry, and stature. The goal of this study was to determine if gender could be established by taking various measurements of the patella taken from magnetic resonance imaging (MRI) images and analyzing the variations by gender. The sample group consisted of 220 patients (110 male and 110 female) whose patella were measured using MRI images of their left knee. Reasons for exclusion were any previous surgery, patella bipartite variation, any fracture in the patella due to trauma or findings of mass or infection. Three measurements - transverse length (TP), craniocaudal length (CC) and anteroposterior length (APP) - were taken off T2-weighted axial and sagittal MRI scans. The program SPSS (Version 21.0) was used to make a descriptive analysis, independent t-test and discriminative analysis. It was found possible to determine gender with an accuracy rate of 91% for females and 87% for males. Since measurements were made individually the accuracy for gender estimation is lower than that seen in other methods. The findings are important in that they show that it is possible to determine gender with a high degree of accuracy using just a few measurements taken from the patella. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

A longitudinal study of craniofacial growth in idiopathic short stature and growth hormone-deficient boys treated with growth hormone.

PubMed

Kjellberg, H; Wikland, K Albertsson

2007-06-01

The aim of this prospective, longitudinal, controlled study is to describe the long-term safety and efficacy of growth hormone (GH) administration on craniofacial morphology in boys with short stature. Forty-six boys, who started GH treatment at the Department of Paediatrics Göteborg Paediatric Growth Research Centre, were consecutively included in the study. Twenty-five boys were classified as growth hormone-deficient (GHD) and 21 as idiopathic short stature (ISS). The patients were injected with 33 (n=31) or 67 (n=15) microg GH/kg body weight/day. The mean age at the start of treatment was 11.8 years [standard deviation (SD) 1.7]. To assess craniofacial growth, standard lateral cephalometric radiographs were obtained at the start of GH treatment, annually during 4 years, and at the end of GH treatment or when growth was less than 1 cm/year. The mean follow-up period was 6.4 years (SD 1.4). Growth changes were compared with boys from a semi-longitudinal reference group of 130 healthy subjects, 7-21 years of age. t-tests for independent and paired samples and multiple regression analysis were applied. Age- and gender-specific standard deviation scores for the cephalometric variables were calculated. Repeated measures analysis of variance was used to identify significant covariates over time, such as low/high GH dose and GHD/ISS and orthodontic treatment. During the study period, eight (out of 40) boys were treated with fixed orthodontic appliances, three with functional appliances (activators), and three with other appliances (plates and lingual arches). During GH treatment period, an overall enhancement in growth of the facial skeleton was observed in boys with short stature. The changes induced by GH yielded a more prognathic growth pattern, a more anterior position of the jaws in relation to the cranial base, and increased anterior rotation of the mandible. The mandibular corpus length and anterior face height of the GH-treated boys were greater at the end of the study compared with the boys in the reference group. No differences in growth response were noted either between the GHD and ISS boys or between those treated with either 33 (low dose) or 67 (high dose) microg GH/kg body weight/day. The only change that remained significantly correlated with orthodontic treatment was the alteration in mandibular ramus height, showing a larger change in the boys who had not undergone orthodontic therapy. The findings of this study demonstrate that GH treatment has a favourable influence on the craniofacial growth pattern of boys with short stature without acromegalic features.

Genetic architecture of body size in mammals

PubMed Central

2012-01-01

Much of the heritability for human stature is caused by mutations of small-to-medium effect. This is because detrimental pleiotropy restricts large-effect mutations to very low frequencies. PMID:22546202

Genetics Home Reference: mucopolysaccharidosis type IV

MedlinePlus

... individuals develop various skeletal abnormalities, including short stature, knock knees, and abnormalities of the ribs, chest, spine, ... links) Encyclopedia: Cloudy cornea Encyclopedia: Hypermobile joints Encyclopedia: Knock ... Morquio syndrome Encyclopedia: Mucopolysaccharides Health Topic: ...

Genetics Home Reference: Burn-McKeown syndrome

MedlinePlus

... ear (sensorineural hearing loss) and changes in the middle ear (conductive hearing loss). Other features that can occur in Burn-McKeown syndrome include mild short stature and congenital heart defects ...

Estimation of total Length of Femur From Its Fragments in South Indian Population

PubMed Central

Solan, Shweta; Kulkarni, Roopa

2013-01-01

Introduction: Establishment of identity of deceased person also assumes a great medicolegal importance. To establish the identity of a person, stature is one of the criteria. To know stature of individual, length of long bones is needed. Aims and Objectives: To determine the lengths of the femoral fragments and to compare with the total length of femur in south Indian population, which will help to estimate the stature of the individual using standard regression formulae. Material and Methods: A number of 150, 72 left and 78 right adult fully ossified dry processed femora were taken. The femur bone was divided into five segments by taking predetermined points. Length of five segments and maximum length of femur were measured to the nearest millimeter. The values were obtained in cm [mean±S.D.] and the mean total length of femora on left and right side was measured. The proportion of segments to the total length was also calculated which will help for the stature estimation using standard regression formulae. Results: The mean total length of femora on left side was 43.54 ± 2.7 and on right side it was 43.42 ± 2.4. The measurements of the segments-1, 2, 3, 4 and 5 were 8.06± 0.71, 8.25± 1.24, 10.35 ± 2.21, 13.94 ± 1.93 and 2.77 ± 0.53 on left side and 8.09 ± 0.70, 8.30 ± 1.34, 10.44 ± 1.91, 13.50 ± 1.54 and 3.09 ± 0.41 on right side of femur. Conclusion: The sample size was 150, 72 left and 78 right and ‘p’ value of all the segments was significant (‹0.001). When comparison was made between segments of right and left femora, the ‘p’ value of segment-5 was found to be ‹0.001. Comparison between different segments of femur showed significance in all the segments. PMID:24298451

Recombinant growth hormone therapy in children with short stature in Kuwait: a cross-sectional study of use and treatment outcomes.

PubMed

Al-Abdulrazzaq, Dalia; Al-Taiar, Abdullah; Hassan, Kholoud; Al-Basari, Iman

2015-12-03

Recombinant Growth hormone (rGH) therapy is approved in many countries for treatment of short stature in a number of childhood diagnoses. Despite the increasing body of international literature on rGH use, there is paucity of data on rGH use in Kuwait and the broader Middle-East which share unique ethnic and socio-cultural backgrounds. This study aimed to describe the pattern of use and treatment outcomes of rGH therapy in Kuwait. This is a cross-sectional retrospective review of children treated with rGH in the Department of Pediatrics, in a major hospital in Kuwait between December 2013 and December 2014. Data were extracted using standard data extraction form and the response to rGH therapy was defined as a gain of ≥ 0.3 standard deviation score (SDS) of height per year. A total of 60 children were treated with rGH in the center. Their Median (Interquartile) age at rGH initiation was 9.0 (6.2, 10.7) years. The most common indications for rGH therapy were Growth Hormone Deficiency (GHD) 23 (38.3 %), Idiopathic Short Stature (ISS) 12 (20.0 %) and Small for Gestational Age (SGA) 9 (15.0 %). After excluding patients with TS, no significant differences were found in gender of those who received rGH therapy in all indications combined or in each group (p ≥ 0.40). At 1-year follow-up, children in all groups had median height SDS change of ≥ 0.3 SDS except for children with ISS. Age at rGH initiation was negatively associated with 1-year treatment response, Adjusted odds ratio (AOR) 0.56 (95 % CI: 0.04-1.49); p = 0.011). GHD is the most common indication of rGH therapy. All indications except for ISS showed significant 1-year treatment response to therapy. Treatment outcomes in patients with ISS should be further investigated in Kuwait. Younger age at initiation of rGH therapy was independently associated with significant response to therapy suggesting the importance of identifying children with short stature and prompt initiation of rGH therapy.

Growth and weight gain in children with juvenile idiopathic arthritis: results from the ReACCh-Out cohort.

PubMed

Guzman, Jaime; Kerr, Tristan; Ward, Leanne M; Ma, Jinhui; Oen, Kiem; Rosenberg, Alan M; Feldman, Brian M; Boire, Gilles; Houghton, Kristin; Dancey, Paul; Scuccimarri, Rosie; Bruns, Alessandra; Huber, Adam M; Watanabe Duffy, Karen; Shiff, Natalie J; Berard, Roberta A; Levy, Deborah M; Stringer, Elizabeth; Morishita, Kimberly; Johnson, Nicole; Cabral, David A; Larché, Maggie; Petty, Ross E; Laxer, Ronald M; Silverman, Earl; Miettunen, Paivi; Chetaille, Anne-Laure; Haddad, Elie; Spiegel, Lynn; Turvey, Stuart E; Schmeling, Heinrike; Lang, Bianca; Ellsworth, Janet; Ramsey, Suzanne E; Roth, Johannes; Campillo, Sarah; Benseler, Susanne; Chédeville, Gaëlle; Schneider, Rayfel; Tse, Shirley M L; Bolaria, Roxana; Gross, Katherine; Feldman, Debbie; Cameron, Bonnie; Jurencak, Roman; Dorval, Jean; LeBlanc, Claire; St Cyr, Claire; Gibbon, Michele; Yeung, Rae S M; Duffy, Ciarán M; Tucker, Lori B

2017-08-22

With modern treatments, the effect of juvenile idiopathic arthritis (JIA) on growth may be less than previously reported. Our objective was to describe height, weight and body mass index (BMI) development in a contemporary JIA inception cohort. Canadian children newly-diagnosed with JIA 2005-2010 had weight and height measurements every 6 months for 2 years, then yearly up to 5 years. These measurements were used to calculate mean age- and sex-standardized Z-scores, and estimate prevalence and cumulative incidence of growth impairments, and the impact of disease activity and corticosteroids on growth. One thousand one hundred forty seven children were followed for median 35.5 months. Mean Z-scores, and the point prevalence of short stature (height < 2.5th percentile, 2.5% to 3.4%) and obesity (BMI > 95th percentile, 15.8% to 16.4%) remained unchanged in the whole cohort. Thirty-three children (2.9%) developed new-onset short stature, while 27 (2.4%) developed tall stature (>97.5th percentile). Children with systemic arthritis (n = 77) had an estimated 3-year cumulative incidence of 9.3% (95%CI: 4.3-19.7) for new-onset short stature and 34.4% (23-49.4) for obesity. Most children (81.7%) received no systemic corticosteroids, but 1 mg/Kg/day prednisone-equivalent maintained for 6 months corresponded to a drop of 0.64 height Z-scores (0.56-0.82) and an increase of 0.74 BMI Z-scores (0.56-0.92). An increase of 1 in the 10-cm physician global assessment of disease activity maintained for 6 months corresponded to a drop of 0.01 height Z-scores (0-0.02). Most children in this modern JIA cohort grew and gained weight as children in the general population. About 1 in 10 children who had systemic arthritis, uncontrolled disease and/or prolonged corticosteroid use, had increased risk of growth impairment.

Prader-Willi Syndrome

MedlinePlus

... with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include Short stature Poor motor skills Weight gain Underdeveloped sex organs Mild intellectual and learning disabilities There is ...

Partial Hypopituitarism, Hypoglycemia, and Hyperlipemia in Albright's Dystrophy

ERIC Educational Resources Information Center

Sareen, C. K.; And Others

1974-01-01

The cases of two mentally retarded adult siblings with the classical features of Albright's osteodystrophy (a disease with characteristics such as short stature and abnormal sexual development) were reported. (Author/DB)

Pseudohypoparathyroidism

MedlinePlus

... one parent needs to pass you the faulty gene for you to have the condition. It is also called Albright hereditary osteodystrophy. The condition causes short stature, round face, obesity, developmental delay, and short hand bones. Symptoms depend ...

Endocrine manifestations of Down syndrome.

PubMed

Whooten, Rachel; Schmitt, Jessica; Schwartz, Alison

2018-02-01

To summarize the recent developments in endocrine disorders associated with Down syndrome. Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures. Risk of thyroid disease is present throughout the life course in individuals with Down syndrome. New approaches and understanding of the pathophysiology and management of subclinical hypothyroidism continue to be explored. Individuals with Down syndrome are also at risk for other autoimmune conditions, with recent research revealing the role of the increased expression of the Autoimmune Regulatory gene on 21st chromosome. Lastly, Down-syndrome-specific growth charts were recently published and provide a better assessment of growth. Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.

Novel genetic loci underlying human intracranial volume identified through genome-wide association.

PubMed

Adams, Hieab H H; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha; Desrivières, Sylvane; Beecham, Ashley H; Jahanshad, Neda; Wittfeld, Katharina; Van der Lee, Sven J; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; Armstrong, Nicola J; Athanasiu, Lavinia; Axelsson, Tomas; Beiser, Alexa; Bernard, Manon; Bis, Joshua C; Blanken, Laura M E; Blanton, Susan H; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brickman, Adam M; Carmichael, Owen; Chakravarty, M Mallar; Chauhan, Ganesh; Chen, Qiang; Ching, Christopher R K; Cuellar-Partida, Gabriel; Braber, Anouk Den; Doan, Nhat Trung; Ehrlich, Stefan; Filippi, Irina; Ge, Tian; Giddaluru, Sudheer; Goldman, Aaron L; Gottesman, Rebecca F; Greven, Corina U; Grimm, Oliver; Griswold, Michael E; Guadalupe, Tulio; Hass, Johanna; Haukvik, Unn K; Hilal, Saima; Hofer, Edith; Hoehn, David; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Liao, Jiemin; Liewald, David C M; Lopez, Lorna M; Luciano, Michelle; Macare, Christine; Marquand, Andre; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; Mazoyer, Bernard; McKay, David R; McWhirter, Rebekah; Milaneschi, Yuri; Mirza-Schreiber, Nazanin; Muetzel, Ryan L; Maniega, Susana Muñoz; Nho, Kwangsik; Nugent, Allison C; Loohuis, Loes M Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pappa, Irene; Pirpamer, Lukas; Pudas, Sara; Pütz, Benno; Rajan, Kumar B; Ramasamy, Adaikalavan; Richards, Jennifer S; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rommelse, Nanda; Rose, Emma J; Royle, Natalie A; Rundek, Tatjana; Sämann, Philipp G; Satizabal, Claudia L; Schmaal, Lianne; Schork, Andrew J; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V; Sprooten, Emma; Strike, Lachlan T; Teumer, Alexander; Thomson, Russell; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Meer, Dennis; Van Donkelaar, Marjolein M J; Van Eijk, Kristel R; Van Erp, Theo G M; Van Rooij, Daan; Walton, Esther; Westlye, Lars T; Whelan, Christopher D; Windham, Beverly G; Winkler, Anderson M; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Xu, Bing; Yanek, Lisa R; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P; Agartz, Ingrid; Aggarwal, Neelum T; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A; Arepalli, Sampath; Assareh, Amelia A; Barral, Sandra; Bastin, Mark E; Becker, Diane M; Becker, James T; Bennett, David A; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Bulayeva, Kazima B; Cahn, Wiepke; Calhoun, Vince D; Cannon, Dara M; Cavalleri, Gianpiero L; Chen, Christopher; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Dale, Anders M; Davies, Gareth E; De Geus, Eco J C; De Jager, Philip L; de Zubicaray, Greig I; Delanty, Norman; Depondt, Chantal; DeStefano, Anita L; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Espeseth, Thomas; Evans, Denis A; Fedko, Iryna O; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E; Fleischman, Debra A; Ford, Ian; Foroud, Tatiana M; Fox, Peter T; Francks, Clyde; Fukunaga, Masaki; Gibbs, J Raphael; Glahn, David C; Gollub, Randy L; Göring, Harald H H; Grabe, Hans J; Green, Robert C; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Hansell, Narelle K; Hardy, John; Hartman, Catharina A; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G; Heslenfeld, Dirk J; Ho, Beng-Choon; Hoekstra, Pieter J; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Ikeda, Masashi; Ikram, M Kamran; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G; Jukema, J Wouter; Kahn, René S; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L; Longstreth, W T; Lopez, Oscar L; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S; McDonald, Colm; McIntosh, Andrew M; McMahon, Katie L; McMahon, Francis J; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Mosley, Thomas H; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Nalls, Michael A; Nauck, Matthias; Nichols, Thomas E; Niessen, Wiro J; Nöthen, Markus M; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L; Ophoff, Roel A; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W J H; Pike, G Bruce; Potkin, Steven G; Psaty, Bruce M; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L; Romanczuk-Seiferth, Nina; Rotter, Jerome I; Ryten, Mina; Sacco, Ralph L; Sachdev, Perminder S; Saykin, Andrew J; Schmidt, Reinhold; Schofield, Peter R; Sigurdsson, Sigurdur; Simmons, Andy; Singleton, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soininen, Hilkka; Srikanth, Velandai; Steen, Vidar M; Stott, David J; Sussmann, Jessika E; Thalamuthu, Anbupalam; Tiemeier, Henning; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Tzourio, Christophe; Uitterlinden, Andre G; Hernández, Maria C Valdés; Van der Brug, Marcel; Van der Lugt, Aad; Van der Wee, Nic J A; Van Duijn, Cornelia M; Van Haren, Neeltje E M; Van T Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N; Veltman, Dick J; Vernooij, Meike W; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M; Wassink, Thomas H; Weale, Michael E; Weinberger, Daniel R; Weiner, Michael W; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y; Wright, Clinton B; Zielke, H Ronald; Zonderman, Alan B; Deary, Ian J; DeCarli, Charles; Schmidt, Helena; Martin, Nicholas G; De Craen, Anton J M; Wright, Margaret J; Launer, Lenore J; Schumann, Gunter; Fornage, Myriam; Franke, Barbara; Debette, Stéphanie; Medland, Sarah E; Ikram, M Arfan; Thompson, Paul M

2016-12-01

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρ genetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (N combined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.

Novel genetic loci underlying human intracranial volume identified through genome-wide association

PubMed Central

Adams, Hieab HH; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha; Desrivières, Sylvane; Beecham, Ashley H; Jahanshad, Neda; Wittfeld, Katharina; Van der Lee, Sven J; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; Armstrong, Nicola J; Athanasiu, Lavinia; Axelsson, Tomas; Beiser, Alexa; Bernard, Manon; Bis, Joshua C; Blanken, Laura ME; Blanton, Susan H; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brickman, Adam M; Carmichael, Owen; Chakravarty, M Mallar; Chauhan, Ganesh; Chen, Qiang; Ching, Christopher RK; Cuellar-Partida, Gabriel; Den Braber, Anouk; Doan, Nhat Trung; Ehrlich, Stefan; Filippi, Irina; Ge, Tian; Giddaluru, Sudheer; Goldman, Aaron L; Gottesman, Rebecca F; Greven, Corina U; Grimm, Oliver; Griswold, Michael E; Guadalupe, Tulio; Hass, Johanna; Haukvik, Unn K; Hilal, Saima; Hofer, Edith; Hoehn, David; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Liao, Jiemin; Liewald, David CM; Lopez, Lorna M; Luciano, Michelle; Macare, Christine; Marquand, Andre; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; Mazoyer, Bernard; McKay, David R; McWhirter, Rebekah; Milaneschi, Yuri; Mirza-Schreiber, Nazanin; Muetzel, Ryan L; Maniega, Susana Muñoz; Nho, Kwangsik; Nugent, Allison C; Olde Loohuis, Loes M; Oosterlaan, Jaap; Papmeyer, Martina; Pappa, Irene; Pirpamer, Lukas; Pudas, Sara; Pütz, Benno; Rajan, Kumar B; Ramasamy, Adaikalavan; Richards, Jennifer S; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rommelse, Nanda; Rose, Emma J; Royle, Natalie A; Rundek, Tatjana; Sämann, Philipp G; Satizabal, Claudia L; Schmaal, Lianne; Schork, Andrew J; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V; Sprooten, Emma; Strike, Lachlan T; Teumer, Alexander; Thomson, Russell; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Meer, Dennis; Van Donkelaar, Marjolein MJ; Van Eijk, Kristel R; Van Erp, Theo GM; Van Rooij, Daan; Walton, Esther; Westlye, Lars T; Whelan, Christopher D; Windham, Beverly G; Winkler, Anderson M; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Xu, Bing; Yanek, Lisa R; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P; Agartz, Ingrid; Aggarwal, Neelum T; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A; Arepalli, Sampath; Assareh, Amelia A; Barral, Sandra; Bastin, Mark E; Becker, Diane M; Becker, James T; Bennett, David A; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Bulayeva, Kazima B; Cahn, Wiepke; Calhoun, Vince D; Cannon, Dara M; Cavalleri, Gianpiero L; Chen, Christopher; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Dale, Anders M; Davies, Gareth E; De Geus, Eco JC; De Jager, Philip L; de Zubicaray, Greig I; Delanty, Norman; Depondt, Chantal; DeStefano, Anita L; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Espeseth, Thomas; Evans, Denis A; Fedko, Iryna O; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E; Fleischman, Debra A; Ford, Ian; Foroud, Tatiana M; Fox, Peter T; Francks, Clyde; Fukunaga, Masaki; Gibbs, J Raphael; Glahn, David C; Gollub, Randy L; Göring, Harald HH; Grabe, Hans J; Green, Robert C; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Hansell, Narelle K; Hardy, John; Hartman, Catharina A; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G; Heslenfeld, Dirk J; Ho, Beng-Choon; Hoekstra, Pieter J; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Ikeda, Masashi; Ikram, M Kamran; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G; Jukema, J Wouter; Kahn, René S; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L; Longstreth, WT; Lopez, Oscar L; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S; McDonald, Colm; McIntosh, Andrew M; McMahon, Katie L; McMahon, Francis J; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Mosley, Thomas H; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Nalls, Michael A; Nauck, Matthias; Nichols, Thomas E; Niessen, Wiro J; Nöthen, Markus M; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L; Ophoff, Roel A; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda WJH; Pike, G Bruce; Potkin, Steven G; Psaty, Bruce M; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L; Romanczuk-Seiferth, Nina; Rotter, Jerome I; Ryten, Mina; Sacco, Ralph L; Sachdev, Perminder S; Saykin, Andrew J; Schmidt, Reinhold; Schofield, Peter R; Sigurdsson, Sigurdur; Simmons, Andy; Singleton, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soininen, Hilkka; Srikanth, Velandai; Steen, Vidar M; Stott, David J; Sussmann, Jessika E; Thalamuthu, Anbupalam; Tiemeier, Henning; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Tzourio, Christophe; Uitterlinden, Andre G; Valdés Hernández, Maria C; Van der Brug, Marcel; Van der Lugt, Aad; Van der Wee, Nic JA; Van Duijn, Cornelia M; Van Haren, Neeltje EM; Van 't Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N; Veltman, Dick J; Vernooij, Meike W; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M; Wassink, Thomas H; Weale, Michael E; Weinberger, Daniel R; Weiner, Michael W; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y; Wright, Clinton B; Zielke, H Ronald; Zonderman, Alan B; Deary, Ian J; DeCarli, Charles; Schmidt, Helena; Martin, Nicholas G; De Craen, Anton JM; Wright, Margaret J; Launer, Lenore J; Schumann, Gunter; Fornage, Myriam; Franke, Barbara; Debette, Stéphanie; Medland, Sarah E; Ikram, M Arfan; Thompson, Paul M

2016-01-01

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five novel loci for intracranial volume and confirmed two known signals. Four of the loci are also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic=0.748), which indicated a similar genetic background and allowed for the identification of four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, Parkinson’s disease, and enriched near genes involved in growth pathways including PI3K–AKT signaling. These findings identify biological underpinnings of intracranial volume and provide genetic support for theories on brain reserve and brain overgrowth. PMID:27694991

Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.

PubMed

Castro, A; Rodríguez, F; Flórez, M; López, P; Curotto, B; Martínez, D; Maturana, A; Lardone, M C; Palma, C; Mericq, V; Ebensperger, M; Cassorla, F

2017-02-01

Are copy number variations (CNVs) in the pseudoautosomal regions (PARs) frequent in subjects with Y-chromosome microdeletions and can they lead to abnormal stature and/or neuropsychiatric disorders? Only subjects diagnosed with azoospermia factor (AZF)b+c deletions spanning to the end of the Y chromosome (i.e. terminal deletions) harbor Y isochromosomes and/or cells 45,X that lead to pseudoautosomal gene CNVs, which were associated with abnormal stature and/or neuropsychiatric disorders. The microdeletions in the long arm of the Y chromosome (Yq) that include the loss of one to three AZF regions, referred to as Yq microdeletions, constitute the most important known etiological factor for primary spermatogenic failure. Recently, controversy has arisen about whether Yq microdeletions are associated with gain or loss of PAR genes, which are implicated in skeletal development and neuropsychiatric function. We studied a cohort of 42 Chilean patients with complete AZF deletions (4 AZFa, 4 AZFb, 23 AZFc, 11 AZFb+c) from a university medical center, diagnosed over a period of 15 years. The subjects underwent complete medical examinations with special attention to their stature and neuropsychiatric function. All subjects were characterized for Yq breakpoints by PCR, and for CNVs in PARs by multiplex ligation-dependent probe amplification (MLPA), followed by qPCR analysis for genes in PAR1 (SHOX and ZBED1), PAR2 (IL9R) and two single copy genes (SRY and DDX3Y, respectively located in Yp11.3 and AZFa). In addition, karyotypes revision and fluorescence in situ hybridization (FISH) for SRY and centromeric probes for X (DXZ1) and Y (DYZ3) chromosomes were performed in males affected with CNVs. We did not detect CNVs in any of the 35 AZF-deleted men with interstitial deletions (AZFa, AZFb, AZFc or AZFb+c). However, six of the seven patients with terminal AZFb+c deletions showed CNVs: two patients showed a loss and four patients showed a gain of PAR1 genes, with the expected loss of VAMP-7 in PAR2. In these patients, the Yq breakpoints localized to the palindromes P8, P5 or P4. In the four cases with gain of PAR1, qPCR analysis showed duplicated signals for SRY and DDX3Y and one copy of IL9R, indicating isodicentric Yp chromosomes [idic(Y)] with breakpoint in Yq11.22. The two patients who had loss of PAR1, as shown by MLPA, had an additional reduction for SRY and DDX3Y, as shown by qPCR, associated with a high proportion of 45,X cells, as determined by FISH and karyotype. In agreement with the karyotype analysis, we detected DYZ3++ and DYZ3+ cells by FISH in the six patients, confirming idic(Y) and revealing additional monocentric Y chromosome [i(Y)]. Five patients had a history of major depressive disorders or bipolar disorder, and three had language impairment, whereas two patients showed severe short stature (Z score: -2.75 and -2.62), while a man with bipolar disorder was very tall (Z score: +2.56). N/A. The number of males studied with Y-chromosome microdeletions and normozoospermic controls with normal karyotypes may not be enough to rule out an association between AZF deletions and PAR abnormalities. The prevalence of Y isochromosomes and/or 45,X cells detected in peripheral blood does not necessarily reflect the variations of PAR genes in target tissues. This study shows that CNVs in PARs were present exclusively in patients with terminal AZFb+c deletions associated with the presence of Y isochromosomes and 45,X cells, and may lead to neuropsychiatric and growth disorders. In contrast, we show that men with interstitial Yq microdeletions with normal karyotypes do not have an increased risk of PAR abnormalities and of phenotypical consequences. Moreover, our results highlight the importance of performing molecular studies, which are not considered in the usual screening for patients with Yq microdeletions. This work was supported by the National Fund for Scientific and Technological Development of Chile (FONDECYT), grant no. 1120176 (A.C.). The authors declare that no conflicting interests exist. © The Author 2017. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Genetics Home Reference: familial glucocorticoid deficiency

MedlinePlus

... familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface. J ... short stature, and natural killer cell deficiency in humans. J Clin Invest. 2012 Mar;122(3):814- ...

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.

PubMed

Mitter, Diana; Krakow, Deborah; Farrington-Rock, Claire; Meinecke, Peter

2008-03-15

We report on a 5-year-old boy with spondylocarpotarsal synostosis (SCT) syndrome who presents with disproportionate short stature, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral conductive hearing loss and mild facial dysmorphisms. Radiographs showed abnormal segmentation of the spine with block vertebrae and carpal synostosis. In addition to the typical phenotype of SCT syndrome, he showed pronounced delay of carpal bone age and bilateral epiphyseal dysplasia of the proximal femora. The patient's father has mild short stature and unilateral hip dysplasia. Molecular studies of the filamin B gene (FLNB) revealed a homozygous mutation in the index patient while both parents were heterozygous for the mutation. In this report we expand the phenotype of SCT syndrome in a patient with a causal FLNB mutation. (c) 2008 Wiley-Liss, Inc.

Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome.

PubMed

Mutesa, L; Vanbellinghen, J F; Hellin, A C; Segers, K; Jamar, M; Pierquin, G; Bours, V

2009-01-01

Heterozygote deletions or mutations of pseudoautosomal 1 region (PAR1) encompassing the short stature homeobox-containing (SHOX) gene cause Leri-Weill Dyschondrosteosis (LWD), which is a dominantly inherited osteochondroplasia characterized by short stature with mesomelic shortening of the upper and lower limbs and Madelung deformity of the wrists. SHOX is expressed by both sex chromosomes in males and females and plays an important role in bone growth and development. Clinically, the LWD expression is variable and more severe in females than males due to sex differences in oestrogen levels. Here, we report two familial cases of LWD with a large Xp terminal deletion (approximately 943 kb) of distal PAR1 encompassing the SHOX gene. In addition, the proband had mental retardation which appeared to be from recessive inheritance in the family.

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.

PubMed

Rodríguez, Fernando Adrián; Unanue, Nancy; Hernandez, María Isabel; Basaure, Javiera; Heath, Karen Elise; Cassorla, Fernando

2013-01-01

Léri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was to improve the diagnosis of patients with suspected LWD through molecular analysis. Twelve patients from 11 families with a clinical diagnosis of LWD were analyzed with multiplex ligation-dependent probe amplification to detect deletions and duplications of SHOX and its enhancer regions. High resolution melting and sequencing was employed to screen for mutations in SHOX coding exons. The molecular-based screening strategy applied in these patients allowed detection of five SHOX deletions and two previously unreported SHOX missense mutations. Molecular studies confirmed the clinical diagnosis of LWD in seven out of 12 patients, which provided support for therapeutic decisions and improved genetic counseling in their families.

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

PubMed

Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Craniofacial morphology and dental maturity in children with reduced somatic growth of different aetiology and the effect of growth hormone treatment.

PubMed

Davidopoulou, Sotiria; Chatzigianni, Athina

2017-12-01

Children with reduced somatic growth may present various endocrinal diseases, especially growth hormone deficiency (GHD), idiopathic short stature (ISS), chromosomal aberrations, or genetic disorders. In an attempt to normalize the short stature, growth hormone (GH) is administered to these children. The aim of this literature review was to collect information about the craniofacial morphology and dental maturity in these children and to present the existing knowledge on the effect of GH treatment on the above structures.This review demonstrated that regardless of the origin of the somatic growth retardation, these children show similar craniofacial features, such as short length of the cranial base and the mandible, increased lower facial height, retropositioned mandible, and obtuse gonion angle. On the other hand, dental maturation does not demonstrate a specific pattern. Except for the above findings, muscle alterations seem to be present in individuals with short stature, who present low body muscle mass and strength, while studies on their craniofacial muscles seem to be lacking. After GH administration, the exact amount and pattern of craniofacial growth is unpredictable; however, the facial convexity decreases, mandibular length increases, and posterior facial height increases, while tooth eruption remains unaffected. Thus, it is of great importance to gain more insight into the craniofacial growth of treated and untreated children with reduced somatic growth so that the influence of GH therapy on the various craniofacial structures could be ascertained and proper orthodontic treatment could be selected.

[Living with achondroplasia- how do young persons with disproportional short stature rate their quality of life and which factors are associated with quality of life?].

PubMed

Rohenkohl, Anja C; Sommer, Rachel; Bestges, Stephanie; Kahrs, Sabine; Klingebiel, Karl-Heinz; Bullinger, Monika; Quitmann, Julia

2015-11-01

Presently, little is known aqout the quality of life (QoL) as well as the strengths and difficulties of young people with achondroplasia. This study describes these patient-reported indicators and identifies possible correlates. At the invitation of a patient organization, a total of 89 short-statured patients aged 8 to 28 years and their parents participated in this study. QoL was assessed cross-sectionally with both generic and disease-specific instruments and the Strengths and Difficulties Questionnaire (SDQ) as a brief behavioral screening. In addition to descriptive analyses, patient data were compared with a reference population. Hierarchical regression analyses reflecting sociodemographic, clinical, and psychological variables were conducted to identify correlates of QoL. QoL and the strengths and difficulties of young patients with achondroplasia did not differ substantially from a healthy norm sample. However, the participants reported more behavioral problems and limitations in their physical and social QoL compared to patients with another short stature diagnosis. Strengths and difficulties, height-related beliefs, and social support correlated significantly with QoL. Adding psychological variables to the regression model increased the proportion of variance explained in QoL. Young persons with achondroplasia did not differ in their QoL and strengths and difficulties from healthy controls. Characteristics such as height appear less important for the self-perceived QoL than are strengths and difficulties and protective psychosocia~factors.