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Sample records for overlap turner syndrome

  1. Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.

    PubMed

    Hatipoglu, Nihal; Kurtoglu, Selim; Kendirci, Mustafa; Keskin, Mehmet; Per, Hüseyin

    2010-02-01

    Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patient. Due to these cases, we suggest that each patient with Turner-like symptoms or Klinefelter's-like syndrome, be carefully examined for café au lait macules before the initiation of hormone replacement treatment.

  2. Turner Syndrome

    MedlinePlus

    ... at increased risk of developing weak, brittle bones (osteoporosis). Pregnancy complications. Most women with Turner syndrome are infertile. ... loss, eye problems, high blood pressure, diabetes and osteoporosis. Periodic ... Pregnancy and fertility treatment Few women with Turner syndrome ...

  3. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  4. Turner Syndrome

    MedlinePlus

    ... turnersyndrome. html • Eunice Kennedy Shriver National Institutes of Child Health & Human Development (NIH): www. nichd. nih. gov/ health/ topics/ Turner_ Syndrome. cfm • Mayo Clinic: www. mayoclinic. com/ health/ turner- ...

  5. Genetics Home Reference: Turner syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  6. Learning about Turner Syndrome

    MedlinePlus

    ... Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. Some ... obtain cells from the unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the baby ...

  7. Turner Syndrome: Other FAQs

    MedlinePlus

    ... can cause certain learning challenges, including problems learning mathematics and with memory. 7 Most girls and women ... Stanford School of Medicine Center for Interdisciplinary Brain Sciences Research. (n.d.). Turner syndrome . Retrieved June 26, ...

  8. Overlapping Numerical Cognition Impairments in Children with Chromosome 22q11.2 Deletion or Turner Syndromes

    ERIC Educational Resources Information Center

    Simon, T. J.; Takarae, Y.; DeBoer, T.; McDonald-McGinn, D. M.; Zackai, E. H.; Ross, J. L.

    2008-01-01

    Children with one of two genetic disorders (chromosome 22q11.2 deletion syndrome and Turner syndrome) as well typically developing controls, participated in three cognitive processing experiments. Two experiments were designed to test cognitive processes involved in basic aspects numerical cognition. The third was a test of simple manual motor…

  9. Overlapping Numerical Cognition Impairments in Children with Chromosome 22q11.2 Deletion or Turner Syndromes

    ERIC Educational Resources Information Center

    Simon, T. J.; Takarae, Y.; DeBoer, T.; McDonald-McGinn, D. M.; Zackai, E. H.; Ross, J. L.

    2008-01-01

    Children with one of two genetic disorders (chromosome 22q11.2 deletion syndrome and Turner syndrome) as well typically developing controls, participated in three cognitive processing experiments. Two experiments were designed to test cognitive processes involved in basic aspects numerical cognition. The third was a test of simple manual motor…

  10. [Clinical guideline 'Turner syndrome'].

    PubMed

    van den Akker, Erica L T; van Alfen, A A E M Janiëlle; Sas, Theo C J; Kerstens, Michiel N; Cools, Martine; Lambalk, Cornelis B

    2014-01-01

    Turner syndrome occurs in women who are missing one X chromosome. The most obvious symptoms are small stature and ovarian failure. Turner patients have an increased risk of a large number of disorders, and should therefore have lifelong medical supervision. Recent insights into patient management have been incorporated into the guidelines. Patients are increasingly involved in their own treatment. In patients with 45,X karyotype, Y-chromosomal material is actively sought in a larger number of cells and/or other tissues, using FISH. Pubertal induction therapy, if required, is initiated at an appropriate age. Egg donation or vitrification are new therapeutic options for fertility treatment. Monitoring for cardiac and vascular disease using cardiac ultrasound and MRI is performed more often, partly in connection with the risk of aortal dissection. The coordination of care of patients with Turner syndrome is concentrated in specialized centres in the Netherlands and Belgium.

  11. Turner syndrome and its variants.

    PubMed

    Bharath, R; Unnikrishnan, A G; Thampy, M V; Anilkumar, Alka; Nisha, B; Praveen, V P; Nair, Vasantha; Jayakumar, R V; Kumar, Harish

    2010-02-01

    Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients had classic Turner karyotype (Group 1) and 13 patients had karyotype suggestive of one of the variants of Turner syndrome (Group 2). There was a median difference of 3 years between the age of presentation and the age of diagnosis in Group 2. Out of the thirteen patients in Group 2, 4 had no clinical stigmata of Turner Syndrome; the rest (n=9) had one or more of the typical clinical stigmata of Turner Syndrome. One patient with a complex mosaic karyotype also had an intracranial medulloblastoma. One patient in each group had coarctation of the aorta. 5 patients in Group 1 and 3 patients in Group 2 had primary hypothyroidism and received levothyroxine. The median Thyroid Stimulating Hormone levels were significantly higher among patients in group 1 than in group 2.

  12. Aortic dimensions in Turner syndrome.

    PubMed

    Quezada, Emilio; Lapidus, Jodi; Shaughnessy, Robin; Chen, Zunqiu; Silberbach, Michael

    2015-11-01

    In Turner syndrome, linear growth is less than the general population. Consequently, to assess stature in Turner syndrome, condition-specific comparators have been employed. Similar reference curves for cardiac structures in Turner syndrome are currently unavailable. Accurate assessment of the aorta is particularly critical in Turner syndrome because aortic dissection and rupture occur more frequently than in the general population. Furthermore, comparisons to references calculated from the taller general population with the shorter Turner syndrome population can lead to over-estimation of aortic size causing stigmatization, medicalization, and potentially over-treatment. We used echocardiography to measure aortic diameters at eight levels of the thoracic aorta in 481 healthy girls and women with Turner syndrome who ranged in age from two to seventy years. Univariate and multivariate linear regression analyses were performed to assess the influence of karyotype, age, body mass index, bicuspid aortic valve, blood pressure, history of renal disease, thyroid disease, or growth hormone therapy. Because only bicuspid aortic valve was found to independently affect aortic size, subjects with bicuspid aortic valve were excluded from the analysis. Regression equations for aortic diameters were calculated and Z-scores corresponding to 1, 2, and 3 standard deviations from the mean were plotted against body surface area. The information presented here will allow clinicians and other caregivers to calculate aortic Z-scores using a Turner-based reference population. © 2015 Wiley Periodicals, Inc.

  13. Parsonage-Turner syndrome.

    PubMed

    Monteiro Dos Santos, Ricardo Barreto; Dos Santos, Saulo Monteiro; Carneiro Leal, Flávio José Câmara; Lins, Otávio Gomes; Magalhães, Carmem; Mertens Fittipaldi, Ricardo Bruno

    2015-01-01

    To describe the clinical, electrophysiological and imaging findings from Parsonage-Turner syndrome and evaluate the results from conservative treatment. Eight cases were studied between February 2010 and February 2012, with a minimum follow-up of one year (mean of 14 months). All the patients answered a clinical questionnaire and underwent functional evaluation using the Constant and Murley score. After clinical suspicion was raised, an electromyography examination was performed to confirm the diagnosis. Eight patients (mean age of 29 years) were evaluated. The right side was affected in 70% of the cases, and the dominant side in 80% of the cases. All the patients reported that their shoulder pain had started suddenly, lasting from one to five days in six cases and up to 15 days in two cases. In three cases, severe atrophy of the deltoid muscle was observed. Hypotrophy of the supraspinatus and infraspinatus muscles was observed in three cases. A winged scapula was observed in the two remaining cases. Electromyography demonstrated involvement of the long thoracic nerve in these last two cases and confirmed the involvement of the axillary and suprascapular nerves in the remaining six cases. The mean score on the Constant and Murley scale was 96 at the end of the conservative treatment with non-steroidal anti-inflammatory drugs and physiotherapy. Six of the eight patients presented good recovery of muscle strength. In the majority of the cases, the functional recovery was good, although muscle strength was not completely restored in some of them.

  14. What Are Common Treatments for Turner Syndrome?

    MedlinePlus

    ... Resources and Publications What are common treatments for Turner syndrome? Skip sharing on social media links Share this: Page Content Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms. These ...

  15. [Turner syndrome: the patients' view].

    PubMed

    Suzigan, Lígia Z C; Paiva e Silva, Roberto B; Lemos Marini, Sofia H V; Baptista, Maria Tereza M; Guerra, Gil; Magna, Luís Alberto; Maciel Guerra, Andréa T

    2004-01-01

    To identify how patients with Turner syndrome perceive their condition. Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.

  16. Turner syndrome: diagnosis and management.

    PubMed

    Morgan, Thomas

    2007-08-01

    Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissection. These patients also are at risk of congenital lymphedema, renal malformation, sensorineural hearing loss, osteoporosis, obesity, diabetes, and atherogenic lipid profile. Patients usually have normal intelligence but may have problems with nonverbal, social, and psychomotor skills. Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus. A Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea. Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. Almost all women with Turner syndrome are infertile, although some conceive with assisted reproduction.

  17. Cognitive Profile of Turner Syndrome

    ERIC Educational Resources Information Center

    Hong, David; Kent, Jamie Scaletta; Kesler, Shelli

    2009-01-01

    Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female. TS is associated with a cognitive profile that typically includes intact intellectual function and verbal abilities with relative weaknesses in visual-spatial, executive, and social cognitive domains. In this…

  18. Cognitive Profile of Turner Syndrome

    ERIC Educational Resources Information Center

    Hong, David; Kent, Jamie Scaletta; Kesler, Shelli

    2009-01-01

    Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female. TS is associated with a cognitive profile that typically includes intact intellectual function and verbal abilities with relative weaknesses in visual-spatial, executive, and social cognitive domains. In this…

  19. Reproductive Issues in Women with Turner Syndrome

    PubMed Central

    Folsom, Lisal J.; Fuqua, John S.

    2016-01-01

    Synopsis Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations generally varies and affects multiple organ systems. Women with Turner syndrome have a threefold increase in mortality, which becomes even more pronounced in pregnancy. There are several reproductive options available for women with Turner syndrome, including adoption or surrogacy, assisted reproductive techniques, and in rare cases spontaneous pregnancy. There are well-documented risks for women with Turner syndrome during pregnancy, including specific risks of aortic pathology, hepatic disease, thyroid disease, type 2 diabetes, and Cesarean section delivery. Several professional societies have published guidelines to aid in the care of women with Turner syndrome prior to and during pregnancy. It is important for providers who care for these women to be familiar with the specific risks and recommendations in caring for women with Turner syndrome of reproductive age. PMID:26568488

  20. [The Ullrich-Turner syndrome].

    PubMed

    Butenandt, O

    1980-07-03

    The etiology of the Ullrich-Turner's syndrome is a chromosomal anomality, the karyotyp 45 XO being the most common one. This results in stunted growth, a number of deformities as pterygium colli or cubita valga, and primary amenorrhea due to gonadal dysgenesis. Treatment consists of anabolic steroids for improvement of growth and substitution of estrogens at a later age. Final height probably will rarely exceed 150 cm. Usually, patients are infertile.

  1. Reproductive Issues in Women with Turner Syndrome.

    PubMed

    Folsom, Lisal J; Fuqua, John S

    2015-12-01

    Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems. Women with Turner syndrome have a 3-fold increase in mortality, which becomes even more pronounced in pregnancy. Reproductive options include adoption or surrogacy, assisted reproductive techniques, and in rare cases spontaneous pregnancy. Risks for women with Turner syndrome during pregnancy include aortic disorders, hepatic disease, thyroid disease, type 2 diabetes, and cesarean section delivery. Providers must be familiar with the risks and recommendations in caring for women with Turner syndrome of reproductive age.

  2. Mosaic Turner syndrome associated with schizophrenia.

    PubMed

    Jung, Sook Young; Park, Joo Won; Kim, Dong Hyun; Jun, Yong Hoon; Lee, Jeong Seop; Lee, Ji Eun

    2014-03-01

    Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.

  3. Endocrine autoimmunity in Turner syndrome.

    PubMed

    Grossi, Armando; Crinò, Antonino; Luciano, Rosa; Lombardo, Antonietta; Cappa, Marco; Fierabracci, Alessandra

    2013-12-20

    Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome. Sixty-six unselected and consecutive Italian Turner patients were recruited. The association between age, karyotype and the presence of clinical/pre-clinical autoimmune disorders and of autoantibodies was examined. Out of the 66 Turner patients, 26 had thyroid autoimmune disorders (39.4%), 14 patients had Hashimoto's thyroiditis with clinical or subclinical hypothyroidism (21.2%) and 12 patients had circulating anti-thyroid antibodies, echographic pattern of diffuse hypoechogenicity and normal thyroid hormone levels (18.2%). None were affected by Graves' disease. We analyzed the overall incidence of thyroid autoimmunity within the 3 different age groups 0-9.9, 10-19.9 and 20-29.9 years. No statistically significant difference was observed in the incidence of thyroid autoimmunity within the age-groups (χ2-test p > 0.05).Out of the 66 patients, 31 patients had the 45,X karyotype; within this first group 14 out of 31 patients were affected by autoimmune thyroid disease. A second group of 29 patients included 19 patients with mosaicism, 5 patients with deletions and 5 patients with ring chromosome; out of these 29 patients 7 were affected by autoimmune thyroid disease. A third group included 6 patients with X isochromosome; 5 out of 6 were affected by autoimmune thyroid disease. A statistically significant difference in the frequency of thyroid autoimmunity within the different karyotype groups was observed (χ2-test p = 0.0173).When comparing the X isochromosome group with the pooled group of other karyotypes, of note, the frequency of thyroid autoimmunity was statistically higher in the X isochromosome group

  4. Triple X female and Turner's syndrome offspring.

    PubMed Central

    Guzmán-Toledano, R; Ayala, A; Zarate, A; Jimenez, M

    1976-01-01

    A mentally retarded young female having 47 chromosomes with a triple X karotype produced a child with Turner's syndrome associated with mental defeciency. To our knowledge this is the first example of a triple X female giving birth to a child with Turner's syndrome. Images PMID:1018311

  5. Multimodality cardiac imaging in Turner syndrome.

    PubMed

    Mortensen, Kristian H; Gopalan, Deepa; Nørgaard, Bjarne L; Andersen, Niels H; Gravholt, Claus H

    2016-06-01

    Congenital and acquired cardiovascular diseases contribute significantly to the threefold elevated risk of premature death in Turner syndrome. A multitude of cardiovascular anomalies and disorders, many of which deleteriously impact morbidity and mortality, is frequently left undetected and untreated because of poor adherence to screening programmes and complex clinical presentations. Imaging is essential for timely and effective primary and secondary disease prophylaxis that may alleviate the severe impact of cardiovascular disease in Turner syndrome. This review illustrates how cardiovascular disease in Turner syndrome manifests in a complex manner that ranges in severity from incidental findings to potentially fatal anomalies. Recommendations regarding the use of imaging for screening and surveillance of cardiovascular disease in Turner syndrome are made, emphasising the key role of non-invasive and invasive cardiovascular imaging to the management of all patients with Turner syndrome.

  6. [Gonadal dysgenesis in Turner syndrome].

    PubMed

    Ogata, Tsutomu

    2004-02-01

    This review article summarizes the current knowledge on the development of gonadal dysgenesis in Turner syndrome. The degree of gonadal dysfunction is well correlated with the size of unpaired region of the sex chromosomes and is independent of the dosage of gene(s) on the sex chromosomes. Thus, it is deduced that sex chromosome aberrations result in meiotic pairing failure of homologous chromosomes, leading to accelerated oocyte loss and resultant gonadal dysgenesis. Although the underlying factor responsible for the oocyte loss remains to be determined, it is likely that activation of apoptotic mechanism to prevent the generation of abnormal gametes plays an essential role in the rapid oocyte degeneration.

  7. Limb lengthening in Turner syndrome.

    PubMed

    Noonan, K J; Leyes, M; Forriol, F

    1997-01-01

    We report the results and complications of eight consecutive patients who underwent bilateral tibial lengthenings for dwarfism associated with Turner syndrome. Lengthening was performed via distraction osteogenesis with monolateral external fixation. Tibias were lengthened an average distance of 9.2 centimeters or 33 percent of the original tibial length. The average total treatment time was 268 days. The overall complication rate was 169 percent for each tibia lengthened and each segment required an average of 1.7 additional procedures. Seven cases (44 percent) required Achilles tendon lengthening and nine cases (56 percent) developed angulation before or after fixator removal; six of these segments required corrective osteotomy for axial malalignment. Two cases (12.5 percent) developed distraction site nonunion and required plating and bone grafting. From this series we conclude that tibial lengthening via distraction osteogenesis can be used to treat disproportionate short stature in patients with Turner syndrome. However, the benefit of a cosmetic increase in height may not compensate for the high complication rate. Efforts to determine the psychosocial and functional benefits of limb lengthening in patients with short stature is necessary to determine the true cost-benefit ratio of this procedure.

  8. Limb lengthening in Turner syndrome.

    PubMed Central

    Noonan, K. J.; Leyes, M.; Forriol, F.

    1997-01-01

    We report the results and complications of eight consecutive patients who underwent bilateral tibial lengthenings for dwarfism associated with Turner syndrome. Lengthening was performed via distraction osteogenesis with monolateral external fixation. Tibias were lengthened an average distance of 9.2 centimeters or 33 percent of the original tibial length. The average total treatment time was 268 days. The overall complication rate was 169 percent for each tibia lengthened and each segment required an average of 1.7 additional procedures. Seven cases (44 percent) required Achilles tendon lengthening and nine cases (56 percent) developed angulation before or after fixator removal; six of these segments required corrective osteotomy for axial malalignment. Two cases (12.5 percent) developed distraction site nonunion and required plating and bone grafting. From this series we conclude that tibial lengthening via distraction osteogenesis can be used to treat disproportionate short stature in patients with Turner syndrome. However, the benefit of a cosmetic increase in height may not compensate for the high complication rate. Efforts to determine the psychosocial and functional benefits of limb lengthening in patients with short stature is necessary to determine the true cost-benefit ratio of this procedure. Images Figure 1a Figure 1b Figure 1c PMID:9234980

  9. Genomic imprinting and Turner syndrome.

    PubMed

    Bondy, Carolyn A; Hougen, Helen Y; Zhou, Jian; Cheng, Clara M

    2012-05-01

    The term 'genomic imprinting' refers to selective repression of transcription from distinct chromosomal regions determined by their maternal or paternal inheritance. There are two potentially important aspects of imprinting that may manifest in individuals with X monosomy, or Turner syndrome (TS). Given that men are monosomic for Xm while women are mosaic for Xm:Xp, genomic imprinting of important X-linked genes should be associated with sexually dimorphic traits, e.g., social skills, regional fat deposition and adult height. Such X-imprinted traits are predicted to differ in Turner groups monosomic for Xm vs. Xp. We review relevant studies of psychosocial attributes, regional fat distribution and height in TS related to parent of origin for the single normal X chromosome. In addition, we review recent evidence that monosomy for the X chromosome per se, regardless of the parental origin, may disrupt the normal distribution of autosomal imprint patterns. This may contribute to a high rate of fetal loss in human monosomy via impaired placentation in the most severe cases, and to loss of paternal contribution to growth in the mildest manifestation.

  10. [Gonadal function in Turner syndrome].

    PubMed

    Alves, Márcia; Bastos, Margarida; Almeida Santos, Teresa; Carrilho, Francisco

    2013-01-01

    Turner syndrome is characterized by the absence, total or partial, of one X chromosome in females, being one of the most frequent chromosomal abnormalities. Diagnosis is made by karyotype. Turner syndrome manifestations include primary hypogonadism, before or after puberty (gonadal dysgenesis). The degree and extent of gonadal disfunction are variable. We intended to assess clinical, karyotype, gonadal function and pelvic ultrasound characteristics in women with Turner syndrome. Retrospective study of patients with Turner syndrome followed in Endocrinology and Human Reproduction Departments of Hospitais da Universidade de Coimbra - Centro Hospitalar e Universitário de Coimbra, E.P.E. We evaluated the entire sample and considered group 1 (with spontaneous puberty and menarche) and group 2 (without spontaneous puberty). Parameters assessed: age at initial study, puberty (Tanner stages), karyotype, FSH, pelvic ultrasound (initial and after puberty), diagnostic laparoscopy and pubertal induction. Statistical Program: SPSS (20.0). Global sample: 79 patients, 14.7 ± 6.6 years. No pubertal signs in 57.1%; 67.1% with primary amenorrhea and 6.6% with secondary amenorrhea. Karyotype: X monosomy-37.2%, mosaicism-37.2%, X structural changes-25.6%. Median FSH of 59.5 mIU/ mL. Initial ultrasound: normal uterus 34.2%, atrophic uterus 65.8%; normal ovaries 21.6%, atrophic ovaries 78.4%, ovarian follicles in 5.1%. Post-puberty ultrasound: normal uterus 67.9%, atrophic uterus 32.1%; normal ovaries 36.4%, atrophic ovaries 63.6%. Laparoscopy was performed in 16 (20.3%) patients, confirming the sonographic findings. Only two women with induced puberty became pregnant: one spontaneously, interrupted; another by donated oocytes, normal outcome. Group 1 (with spontaneous puberty and menarche): 20 (25.3%) patients, 16.1 ± 8.9 years. Tanner at baseline: M1-22.2%, M2-33.3%, M3-16.7%, M4-16.7%, M5-11.1%. Karyotype: mosaicism-65%, X structural changes-20%, X monosomy-15%. Median FSH of 7 m

  11. Precocious puberty in Turner syndrome.

    PubMed

    Sabin, Matthew A; Zacharin, Margaret R

    2007-11-01

    Turner syndrome (TS) affects approximately 1 in 2000 liveborn girls. It is a common cause of short stature and is often, but not universally, associated with characteristic dysmorphic features and ovarian dysgenesis. Genotype/phenotype correlation in TS is generally poor and girls with TS may occasionally have normal functioning ovarian tissue, with approximately 30-40% entering puberty, 4% achieving menarche and 1% being fertile. In this report, we describe a girl with mosaic TS who unusually experienced spontaneous precocious puberty with associated accelerated longitudinal growth during mid childhood. This case acts as a useful clinical vignette with which to highlight important aspects of diagnosis and treatment in children with TS, particularly in relation to future growth potential and issues relating to fertility.

  12. Language and Literacy in Turner Syndrome

    ERIC Educational Resources Information Center

    Murphy, Melissa M.

    2009-01-01

    Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

  13. Language and Literacy in Turner Syndrome

    ERIC Educational Resources Information Center

    Murphy, Melissa M.

    2009-01-01

    Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

  14. Coronary artery anomalies in Turner Syndrome.

    PubMed

    Viuff, Mette H; Trolle, Christian; Wen, Jan; Jensen, Jesper M; Nørgaard, Bjarne L; Gutmark, Ephraim J; Gutmark-Little, Iris; Mortensen, Kristian H; Gravholt, Claus Højbjerg; Andersen, Niels H

    Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found. Copyright © 2016 Society of Cardiovascular Computed Tomography. All rights reserved.

  15. Turner syndrome: contemporary thoughts and reproductive issues.

    PubMed

    Reindollar, Richard H

    2011-07-01

    Turner syndrome is a common genetic disorder that has been classically associated with a 45,X karyotype. Several X-chromosomal abnormalities have been identified in these patients, many of which involve mosaicism. These patients have variable but predictable phenotypic findings and are at risk for development of endocrine, autoimmune, and structural abnormalities. As many as 1.5% of the population with Turner syndrome may develop dissection and rupture of the ascending aorta; the presence of abnormalities of the cardiac tree and hypertension increase this risk, but their absence does not preclude it. Rupture has occurred at aortic diameters smaller than previously reported for other patient populations. Five percent or more of women with Turner syndrome may have abbreviated menstrual function before developing amenorrhea and hypergonadotropic hypogonadism. An estimated 1 to 2% of all patients may become pregnant. Only three patients with Turner syndrome (and two of them with streak ovaries) have ever been reported to become pregnant after developing amenorrhea and elevated gonadotropin levels. Pregnancy, either spontaneous or more commonly from donor oocyte, increases maternal mortality rate for these women by an estimated ≥100 fold. It appears that all Turner women are at risk of rupture; neither prior spontaneous menses nor age >30 years provides protection. In addition, the literature suggests that the physiological changes of pregnancy may increase the risk of rupture in future years after delivery for those Turner women who seemingly made it safely through pregnancy. The use of the term PRIMARY OVARIAN INSUFFICIENCY (POI) for Turner syndrome gives me some discomfort. For women with 46,XX hypergonadotropic hypogonadism, POI accurately provides the suggestion that follicular depletion is often not complete (although remissions are usually self-limiting and the vast majority of patients will not spontaneously become pregnant). I clearly understand the need to

  16. COGNITIVE PROFILE OF TURNER SYNDROME

    PubMed Central

    Hong, David; Kent, Jamie Scaletta; Kesler, Shelli

    2011-01-01

    Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female. TS is associated with a cognitive profile that typically includes intact intellectual function and verbal abilities with relative weaknesses in visual–spatial, executive, and social cognitive domains. In this report, we review previous and current research related to the cognitive profile of TS. We also discuss how cognitive impairments in this syndrome may reflect integrative rather than modular deficits. For example, the less commonly reported areas of verbal difficulty in TS and certain visual–spatial deficits seem significantly influenced by impairments in executive function and spatially loaded stimuli. We provide a summary of cognitive testing measures used in the assessment of visual–spatial and executive skills, which includes test domain descriptions as well as a comprehensive examination of social cognitive function in TS. This review concludes with a discussion of ecological interpretations regarding the meaning of cognitive deficits in TS at the individual level. PMID:20014362

  17. Fertility preservation in Turner syndrome.

    PubMed

    Grynberg, Michaël; Bidet, Maud; Benard, Julie; Poulain, Marine; Sonigo, Charlotte; Cédrin-Durnerin, Isabelle; Polak, Michel

    2016-01-01

    Premature ovarian insufficiency is a relatively rare condition that can appear early in life. In a non-negligible number of cases the ovarian dysfunction results from genetic diseases. Turner syndrome (TS), the most common sex chromosome abnormality in females, is associated with an inevitable premature exhaustion of the follicular stockpile. The possible or probable infertility is a major concern for TS patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The severely reduced follicle pool even during prepubertal life represents the major limit for fertility preservation and is the root of numerous questions regarding the competence of gametes or ovarian tissue crybanked. In addition, patients suffering from TS show higher than usual rates of spontaneous abortion, fetal anomaly, and maternal morbidity and mortality, which should be considered at the time of fertility preservation and before reutilization of the cryopreserved gametes. Apart from fulfillment of the desire of becoming genetic parents, TS patients may be potential candidates for egg donation, gestational surrogacy, and adoption. The present review discusses the different options for preserving female fertility in TS and the ethical questions raised by these approaches.

  18. Thyroid Autoimmunity in Girls with Turner Syndrome.

    PubMed

    Witkowska-Sędek, Ewelina; Borowiec, Ada; Kucharska, Anna; Chacewicz, Karolina; Rumińska, Małgorzata; Demkow, Urszula; Pyrżak, Beata

    2017-04-30

    Turner syndrome is associated with increased incidence of autoimmune diseases, especially those of the thyroid gland. The aim of this study was to assess the prevalence of thyroid autoimmunity among pediatric patients with Turner syndrome. The study was retrospective and included 41 girls with Turner syndrome aged 6-18 years. Free thyroxine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (TPO-Ab) antibodies, anti-thyroglobulin (TG-Ab) antibodies, and karyotype were investigated. The correlation between karyotype and incidence of thyroid autoimmunity was also examined. Eleven patients (26.8%) were positive for TPO-Ab and/or TG-Ab. Three girls from that subgroup were euthyroid, 5 had subclinical hypothyroidism, and 3 were diagnosed with overt hypothyroidism. Out of these 11 patients affected by thyroid autoimmunity, 6 girls had mosaic karyotype with X-isochromosome (n = 4) or with deletions (n = 2), and 5 had the 45,X karyotype. The study findings confirmed a high incidence of thyroid autoimmunity in girls with Turner syndrome, but we failed to observe an association between the incidence of thyroid autoimmunity and karyotype. We conclude that it is important to monitor thyroid function in patients with Turner syndrome because they are prone to develop hypothyroidism.

  19. Dissection of the aorta in Turner's syndrome.

    PubMed Central

    Price, W H; Wilson, J

    1983-01-01

    Three deaths from dissection of the aorta in a series of 157 adult women with Turner's syndrome are reported. These are greatly in excess of the numbers expected. None of the three patients had a coarctation of the aorta. One had aortic regurgitation but there was no reason to believe that the aorta in the other two patients had been subjected to unusual haemodynamic stresses. Cystic medial necrosis of the aorta was described in two patients on whom necropsies were carried out. It is concluded that there is probably a greatly increased risk of dissection of the aorta in Turner's syndrome even in the absence of any other abnormality of the aorta and aortic valve. Previously reported cases of aortic dissection in Turner's syndrome are discussed. PMID:6842536

  20. Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome.

    PubMed

    Pier, Danielle B; Nunes, Fabio P; Plotkin, Scott R; Stemmer-Rachamimov, Anat O; Kim, James C; Shih, Helen A; Brastianos, Priscilla; Lin, Angela E

    2014-01-01

    Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  1. Increasing School Nurse Awareness of Turner Syndrome

    ERIC Educational Resources Information Center

    Ardary, Darlene A.

    2007-01-01

    Turner syndrome, a genetic disorder that affects only females, can cause various physical, emotional, and educational disabilities. This disorder may go undiagnosed until school age or later. Short stature and lack of spontaneous puberty are common characteristics and can lead to teasing by peers. Some experience attention deficit and the…

  2. Spondyloepiphyseal dysplasia tarda in Turner syndrome.

    PubMed

    Massa, G; Vanderschueren-Lodeweyckx, M

    1989-11-01

    A girl with short stature is described in whom chromosomal analysis revealed a 45,X/46,XX mosaicism and in whom radiological investigations disclosed the diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This is the first report of the occurrence of X-linked spondyloepiphyseal dysplasia tarda in a child with Turner syndrome.

  3. Supernumerary chromosomes in mosaic Turner syndrome.

    PubMed

    Thong, M K; Manonmani, V; Norlasiah, I S

    1996-12-01

    The finding of a supernumerary or marker chromosome in a karyotype poses difficulty in genetic counselling. The true incidence and significance of this chromosomal aberration is unknown in Malaysia. We report two patients who presented with supernumerary chromosomes in mosaic Turner syndrome.

  4. [Turner-like syndrome: a case report].

    PubMed

    Velletri, M R; Valenzise, M; Wasniewska, M; Arasi, S; Santisi, A; Romeo, M; Pitrolo, E; Santucci, S; Corica, D; Crisafulli, R; Zirilli, G

    2013-01-01

    A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.

  5. Increasing School Nurse Awareness of Turner Syndrome

    ERIC Educational Resources Information Center

    Ardary, Darlene A.

    2007-01-01

    Turner syndrome, a genetic disorder that affects only females, can cause various physical, emotional, and educational disabilities. This disorder may go undiagnosed until school age or later. Short stature and lack of spontaneous puberty are common characteristics and can lead to teasing by peers. Some experience attention deficit and the…

  6. Ocular motor indicators of executive dysfunction in fragile X and Turner syndromes.

    PubMed

    Lasker, Adrian G; Mazzocco, Michèle M M; Zee, David S

    2007-04-01

    Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner syndrome, and 40 females with neither disorder who comprised the comparison group. Group differences emerged for both the fragile X and Turner syndrome groups, each relative to the comparison group: Females with fragile X had deficits in generating memory-guided saccades, predictive saccades, and saccades made in the overlap condition of a gap/overlap task. Females with Turner syndrome showed deficits in generating memory-guided saccades, but not during either the predictive saccade or gap/overlap task. Females with Turner syndrome, but not females with fragile X, showed deficits in visually guided saccades and anti-saccades. These findings indicate that different brain regions are affected in the two disorders, and suggest that different pathways lead to the similar cognitive phenotypes described for fragile X and Turner syndromes.

  7. Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

    PubMed Central

    Gravholt, C. H.; Juul, S.; Naeraa, R. W.; Hansen, J.

    1996-01-01

    OBJECTIVE--To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome. PMID:8555850

  8. [Late diagnosis of Turner syndrome: therapeutic implications].

    PubMed

    Candel González, F J; Matesanz David, M; Vivancos Velasco, R; Samaniego Olano, L A; Sanz de Barros, R; Candel Monserrate, I; Serrano Ríos, M

    2000-04-01

    We report the case of a patient with Turner's syndrome, whose special peculiarity is that its clinical signs have gone unnoticed despite the presence of several morphological features and functional disorders which must have induced it precociously. It's about a 58 years old patient with an aortic metalic valve in treatment with dicumarinics, who came to emergencies with a severe anemic syndrome because of a peptic ulcer propitiated by the hypoprotrombinaemia. In the physical examination some typical signs of the syndrome were detected. The karyotype verified the existance of Turner (45X0). We insist on the need of an early diagnosis, in order to prevent the short stature and to offer a satisfactory sexual development, and we include an actualization of the different approachments in the therapy and management of the disease.

  9. Juvenile ankylosing spondylitis in Turner syndrome.

    PubMed

    Sandhya, P; Danda, Debashish; Danda, Sumita; Srivastava, Vivi M

    2013-01-01

    Juvenile ankylosing spondylitis (JAS) is a chronic autoimmune disorder which causes considerable morbidity when left untreated; it occurs predominantly in men. We describe an Asian Indian woman who had JAS with phenotypic features of Turner syndrome (TS) and was found to be a mosaic for 45, X/46, X, psu idic (X) (p11) by karyotyping and fluorescence in situ hybridization (FISH) studies of peripheral blood. The absence of Y chromosome material was confirmed by FISH. Haplo-insufficiency of the X chromosome can predispose to autoimmunity. To the best of our knowledge, this is the first report of JAS in association with mosaic Turner syndrome. This case highlights the possible effects of gene dosage in development of an autoimmune disease.

  10. Ullrich-Turner syndrome and neurofibromatosis-1

    SciTech Connect

    Schorry, E.K.; Lovell, A.M.; Saal, H.M.; Milatovich, A.

    1996-12-30

    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 first 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.

  11. [Y chromosome structural abnormalities and Turner's syndrome].

    PubMed

    Ravel, C; Siffroi, J-P

    2009-06-01

    Although specifically male, the human Y chromosome may be observed in female karyotypes, mostly in women with Turner syndrome stigmata. In women with isolated gonadal dysgenesis but otherwise normal stature, the testis determining factor or SRY gene may have been removed from the Y chromosome or may be mutated. In other women with Turner syndrome, the karyotype is usually abnormal and shows a frequent 45,X/46,XY mosaicism. In these cases, the phenotype depends on the ratio between Y positive and 45,X cell lines in the body. When in mosaicism, Y chromosomes are likely to carry structural abnormalities which explain mitotic instability, such as the existence of two centromeres. Dicentric Y isochromosomes for the short arm (idic[Yp]) or ring Y chromosomes (r[Y]) are the most frequent abnormal Y chromosomes found in infertile patients and in Turner syndrome in mosaic with 45,X cells. Although monocentric, deleted Y chromosomes for the long arm and those carrying microdeletions in the AZF region are also instable and are frequently associated with a 45,X cell line. Management of infertile patients carrying such abnormal Y chromosomes must take into account the risk and the consequences of a mosaicism in the offspring.

  12. OTOLOGICAL MANIFESTATIONS OF TURNER SYNDROME: CLINICAL AND RADIOLOGICAL FINDINGS.

    PubMed

    Đerić, Dragoslava; Dudvarski, Zoran; Cvorović, Ljiljana

    2016-01-01

    Turner syndrome is a chromosomal abnormality where all or a part of one of the X chromosomes is absent or it has other abnormalities. Besides characteristic abnormalities of short stature and infertility, women with Turner syndrome have increased risks for tumors of the central nervous system, especially meningioma and an otologic disease. Meningioma involving the middle ear is extremely rare, and this condition has never been published in association with Turner syndrome. We present an otologic manifestation associated with other abnormalities in a patient with Turner syndrome and discuss diagnosis and possible treatment options. Multidisciplinary team approach is essential in these patients in order to evaluate their vulnerability and define therapeutic priorities.

  13. [Personage-Turner syndrome--case report].

    PubMed

    Tomczykiewicz, Kazimierz; Stepień, Adam; Staszewski, Jacek

    2011-08-01

    Personage-Turner syndrome or acute brachial radiculitis is rare syndrome. In typical cases it was manifested by strong pain of shoulder region and the weakness of muscles which are supplies by individual nerves or part of brachial plexus and in longer time with atrophy. Aetiology of this disease is unknown, probably on the autoimmuno-inflammatory background. Diagnosis is made on the typical clinical picture and in exclusion many illness with impairment brachial plexus. In presented case the course of disease as well as executed investigations suggested that discopathy could be the reason of paresis, however renewed estimation caused the change of the diagnosis.

  14. Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

    PubMed

    Byard, Roger W

    2016-05-01

    A case of intracerebral hemorrhage in Turner syndrome is reported with an analysis of possible causes of cerebrovascular accidents in this condition. A 42-year-old woman with known Turner syndrome died soon after hospital admission having been found unconscious at her home address. At autopsy, she showed typical features of Turner syndrome with short stature, webbing of the neck, underdeveloped breasts, and an increased carrying angle of the arm. Death was due to a large left-sided intracerebral hemorrhage extending from the left basal ganglia into the white matter of the frontal lobe and lateral ventricle. Cases of unexpected death in Turner syndrome may arise from occult cerebrovascular accidents which may be hemorrhagic or nonhemorrhagic. Associated features include hypertension, vascular malformations, accelerated atherogenesis, cystic medial necrosis, and moyamoya syndrome. The possibility of Turner syndrome should be considered in cases where there has been a lethal cerebrovascular event in a younger woman.

  15. Aneurysmal dilatation of medium caliber arteries in Turner syndrome.

    PubMed

    Polkampally, Pritam R; Matta, Jatin R; McAreavey, Dorothea; Bakalov, Vladimir; Bondy, Carolyn A; Gharib, Ahmed M

    2011-01-01

    Turner syndrome is the most common chromosomal abnormality in female subjects, affecting 1 in 2000 live births. The condition is associated with a generalized vasculopathy as well as congenital cardiac and other defects. We report aneurysmal dilation of medium caliber arteries involving the celiac axis and coronary vessels in two women with Turner syndrome.

  16. The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.

    ERIC Educational Resources Information Center

    McCauley, Elizabeth; And Others

    1987-01-01

    The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

  17. Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

    PubMed

    Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

    2015-11-01

    To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.

    ERIC Educational Resources Information Center

    McCauley, Elizabeth; And Others

    1987-01-01

    The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

  19. 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.

  20. Growth Curves for Girls with Turner Syndrome

    PubMed Central

    Bertapelli, Fabio; Barros-Filho, Antonio de Azevedo; Antonio, Maria Ângela Reis de Góes Monteiro; Barbeta, Camila Justino de Oliveira; de Lemos-Marini, Sofia Helena Valente

    2014-01-01

    The objective of this study was to review the growth curves for Turner syndrome, evaluate the methodological and statistical quality, and suggest potential growth curves for clinical practice guidelines. The search was carried out in the databases Medline and Embase. Of 1006 references identified, 15 were included. Studies constructed curves for weight, height, weight/height, body mass index, head circumference, height velocity, leg length, and sitting height. The sample ranged between 47 and 1,565 (total = 6,273) girls aged 0 to 24 y, born between 1950 and 2006. The number of measures ranged from 580 to 9,011 (total = 28,915). Most studies showed strengths such as sample size, exclusion of the use of growth hormone and androgen, and analysis of confounding variables. However, the growth curves were restricted to height, lack of information about selection bias, limited distributional properties, and smoothing aspects. In conclusion, we observe the need to construct an international growth reference for girls with Turner syndrome, in order to provide support for clinical practice guidelines. PMID:24949463

  1. [Human growth hormone and Turner syndrome].

    PubMed

    Sánchez Marco, Silvia Beatriz; de Arriba Muñoz, Antonio; Ferrer Lozano, Marta; Labarta Aizpún, José Ignacio; Garagorri Otero, Jesús María

    2017-02-01

    The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone. A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected. A descriptive and analytical study was conducted to evaluate short (12 months) and long term response to treatment with growth hormone. A favourable treatment response was shown during the first year of treatment in terms of height velocity gain in 66.6% of cases (height-gain velocity >3cm/year). A favourable long-term treatment response was also observed in terms of adult height, which increased by 42.82±21.23cm (1.25±0.76 SDS), with an adult height gain of 9.59±5.39cm (1.68±1.51 SDS). Predictors of good response to growth hormone treatment are: A) initial growth hormone dose, B) time on growth hormone treatment until starting oestrogen therapy, C) increased IGF1 and IGFBP-3 levels in the first year of treatment, and D) height gain velocity in the first year of treatment. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  2. Turner Syndrome: Four Challenges Across the Lifespan

    PubMed Central

    Sutton, Erica J; McInerney-Leo, Aideen; Bondy, Carolyn A; Gollust, Sarah E; King, Donnice; Biesecker, Barbara

    2008-01-01

    Turner syndrome (TS) is a sex chromosome condition that occurs in approximately 1/2500 live female births. Despite the prevalence of this chromosomal condition, the challenges these women face throughout their lives are not fully understood. This qualitative research study aimed to characterize the subjective experiences of individuals with Turner syndrome throughout their lifespan, to investigate their concerns and obstacles, and to offer insight into the strengths and weaknesses of health care delivery, as they perceived them. Ninety-seven girls and women with TS and 21 parents consented to participate in this interview study. Interviews were semi-structured and open-ended in design. Questions sought to elicit responses relating to existing concerns associated with their condition and positive and negative health care experiences. Participants were divided into four age categories (childhood, adolescence, adulthood, and mature adulthood) to facilitate a comparative analysis across the age spectrum. Regardless of age, infertility was the most frequently cited concern followed closely by short stature. Sexual development and function and general health were also viewed as challenges by a number of participants in each age group. Although the relative weight of these four concerns tended to shift based upon the individual’s age and life experiences, all four issues remained significant throughout the lifespan. Enhanced awareness of the evolving physical and psychological challenges faced by girls and women with TS may help health care providers improve the quality of life for these individuals. PMID:16252273

  3. The cognitive phenotype of Turner syndrome: Specific learning disabilities.

    PubMed

    Mazzocco, Michèle M M

    2006-10-01

    Global descriptors of the cognitive phenotype of Turner syndrome are well established and are thus commonly referred to. For example, Turner syndrome is a proposed etiology of the nonverbal learning disability - because of reported relative strengths in verbal skills, and relatively weaker nonverbal skills - particularly in arithmetic, select visuospatial skills, and processing speed. This profile is observed throughout and beyond the school age years. Reliance on this gross level description of the cognitive profile (e.g., nonverbal learning disability) may be helpful as a starting point when determining whether an individual with Turner syndrome has educational needs, but it carries limited practical significance when determining the specific nature of these needs. The limitations stem from the fact that the severity of the cognitive profile is highly variable among individuals with Turner syndrome; that the "nonverbal" difficulties are specific rather than widespread; and that any individual with Turner syndrome may also manifest cognitive characteristics independent of Turner syndrome. In view of the increased risk for specific cognitive difficulties, a detailed assessment prior to the onset of formal schooling (or at the time of diagnosis, when diagnosis occurs after 5 years of age) can play an important role in determining school readiness and potential need for educational support among individual girls with Turner syndrome.

  4. Vestibular dysfunction in Turner syndrome: a case report.

    PubMed

    Baxter, Michael; Agrawal, Yuri

    2014-02-01

    Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

  5. [Turner syndrome and genetic polymorphism: a systematic review].

    PubMed

    Trovó de Marqui, Alessandra Bernadete

    2015-01-01

    To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  6. Turner syndrome and genetic polymorphism: a systematic review

    PubMed Central

    de Marqui, Alessandra Bernadete Trovó

    2015-01-01

    Objective: To present the main results of the literature on genetic polymorphisms in Turner syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. Data sources: The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. Data synthesis: The polymorphisms investigated in patients with Turner syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner syndrome. The role of single nucleotide polymorphisms in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Conclusions: Genetic polymorphisms appear to be associated with Turner syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner syndrome. PMID:25765448

  7. Turner syndrome: the case of the missing sex chromosome.

    PubMed

    Zinn, A R; Page, D C; Fisher, E M

    1993-03-01

    Turner syndrome is the phenotype associated with the absence of a second sex chromosome in humans. Recent observations support the hypothesis that the phenotype results from haploid dosage of genes that are common to the X and Y chromosomes and that escape X inactivation. A goal of current studies is the identification of these "Turner' genes.

  8. Fertility and Pregnancy in Turner Syndrome.

    PubMed

    Bouet, Pierre-Emmanuel; Godbout, Ariane; El Hachem, Hady; Lefebvre, Maude; Bérubé, Lyne; Dionne, Marie-Danielle; Kamga-Ngande, Carole; Lapensée, Louise

    2016-08-01

    Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI. Abnormal findings, such an aortic dilatation, mandate close monitoring throughout the pregnancy and the immediate postpartum period and could possibly contraindicate pregnancy. When in vitro fertilization using donated oocytes is performed in these women, only a single embryo should be transferred. Women with a Turner mosaic karyotype appear to have a lower risk of obstetrical and cardiovascular complications but should nevertheless undergo the full preconception evaluation. In this article, we offer guidelines on the management of women with TS in the preconception period, during pregnancy, and postpartum.

  9. Dentofacial morphology in Turner syndrome karyotypes.

    PubMed

    Rizell, Sara

    2012-01-01

    The overall aim of this thesis was to study dentofacial morphology in Turner syndrome (TS) versus controls and the influence hereupon from karyotype. One hundred thirty two TS females (5-66 years of age), from Göteborg, Uppsala and Umeå were participating. Cephalometric analysis, cast model analysis concerning palatal height, dental arch morphology and dental crown width were performed. Eighteen primary teeth were analysed in polarized light microscopy, scanning electron microscopy, microradiography and X-ray microanalysis were performed. The TS females were divided according to karyotype into: 1 45,X; 2 45,X/46,XX; 3 isochromosome; 4 other. Compared to healthy females, TS were found to have a flattened cranial base as well as small and retrognathic jaws with a posterior inclination. The maxillary dentoalveolar arch was narrower and longer, while the mandibular dental arch was wider and longer in TS compared to controls. The palatal height did not differ comparing TS and healthy females. The dental crown width was smaller in TS for both permanent and primary teeth. Aberrant elemental composition, prism pattern and lower mineral density were found in TS primary enamel compared to enamel in primary teeth from healthy girls. Turner syndrome karyotype was found having an impact on craniofacial morphology, with the mosaic 45,X/46,XX exhibiting a milder mandibular retrognathism as well as fewer cephalometric variables differing from controls compared to other karyotypes. Also for the dentoalveolar arch morphology the 45,X/46,XX group had fewer variables differing from healthy females. The isochromosome TS group exhibited the smallest dental crown width for several teeth, while 45,X/46,XX hade the largest dental crown with for some teeth and fewer teeth than both 45,X and isochromosomes that differed from controls. Thus, the mosaic 45,X/46,XX seemed to exhibit a milder phenotype, possibly due to presence of healthy 46,XX cell lines.

  10. Turner Syndrome: Care of the Patient: Birth to Late Adolescence.

    PubMed

    Paolucci, Denise Gruccio; Bamba, Vaneeta

    2017-06-01

    Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis. Early identification of TS allows for appropriate screening and surveillance evaluations and more timely treatment intervention. This article will provide an overview of the healthcare issues common to patients with TS, treatments available and the screening and surveillance testing that is recommended. Copyright© of YS Medical Media ltd.

  11. Imaging of cardiovascular risk in patients with Turner's syndrome

    PubMed Central

    Marin, A.; Weir-McCall, J.R.; Webb, D.J.; van Beek, E.J.R.; Mirsadraee, S.

    2015-01-01

    Turner's syndrome is a disorder defined by an absent or structurally abnormal second X chromosome and affects around 1 in 2000 newborn females. The standardised mortality ratio in Turner's syndrome is around three-times higher than in the general female population, mainly as a result of cardiovascular disorders. Most striking is the early age at which Turner's syndrome patients develop the life-threatening complications of cardiovascular disorders compared to the general population. The cardiovascular risk stratification in Turner's syndrome is challenging and imaging is not systematically used. The aim of this article is to review cardiovascular risks in this group of patients and discuss a systematic imaging approach for early identification of cardiovascular disorders in these patients. PMID:25917542

  12. How Do Health Care Providers Diagnose Turner Syndrome?

    MedlinePlus

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Turner syndrome? Skip sharing on social media links Share this: Page Content Health care providers use a combination of physical symptoms and ...

  13. [Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome].

    PubMed

    Conte, M R; Bonfiglio, G; Orzan, F; Mangiardi, L; Camaschella, C; Alfarano, A; Brusca, A

    1995-12-01

    A case of hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome is reported. The most frequently associated cardiac anomalies are coarctation of the aorta and bicuspid aortic valve. Hypertrophic cardiomyopathy has never been reported in this syndrome but is frequent in Noonan syndrome. In these two conditions the phenotype may be indistinguishable but the cariotype is different: normal in Noonan and 45X in Turner syndrome. Our patient had the typical somatic features, and the cariotype was 45X in all examined cells. A familial form of hypertrophic cardiomyopathy was excluded by the normal clinical examination of other members of the family. The presence of hypertrophic cardiomyopathy also in Turner syndrome and the recent localization on the long arm of the chromosome 12 of the gene for Noonan syndrome might postulate a common pathogenesis of the two syndromes.

  14. Down-Turner syndrome: case report and review.

    PubMed Central

    Van Buggenhout, G J; Hamel, B C; Trommelen, J C; Mieloo, H; Smeets, D F

    1994-01-01

    We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can also be present in patients with Down's syndrome and vice versa. In most of the patients two different cell lines were encountered, although cases with one, three, and even four different cell lines have been reported. Of 28 patients, 21 showed female external genitalia, four were phenotypically male, and three showed ambiguous genitalia. Only six patients (21%) carried a Y chromosome, which is far less than expected. Images PMID:7837259

  15. CEREBRAL VENOUS THROMBOSIS AND TURNER SYNDROME: A RARE REPORTED ASSOCIATION.

    PubMed

    Guler, A; Alpaydin, S; Bademkiran, F; Sirin, H; Celebisoy, N

    2015-01-01

    Turner Syndrome is the only known viable chromosomal monosomy, characterised by the complete or partial absence of an X chromosome. It's the most common chromosomal abnormality in females. Apart from the well known dysmorphic features of the syndrome, it has been associated with a number of vascular pathologies; mainly involving the cardiovascular, renovascular, peripheral vascular and cerebrovascular system. It seems striking that thromboembolism is not considered as a feature of the syndrome. Most of the thromboembolism cases are related to the arterial vascular system; except for some rare reported portal venous thrombosis cases, peripheral venous thrombosis cases and to the best of our knowledge a single case of cerebral venous thrombosis with Dandy Walker malformation and polymicrogyria. We herein report a cerebral venous thrombosis case with Turner Syndrome. With no other found underlying etiology, we want to highlight that Turner Syndrome, itself, may have a relationship not only with the cerebral arterial vascular system pathologies but also with the cerebral venous thrombosis.

  16. Aortopathies in Turner syndrome -- new strategies for evaluation and treatment.

    PubMed

    Kriksciuniene, Ruta; Ostrauskas, Rytas; Zilaitiene, Birute

    2015-01-01

    Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta.Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed.

  17. Concurrent insulinoma with mosaic Turner syndrome: A case report.

    PubMed

    Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

    2015-03-01

    Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

  18. 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.

  19. Concurrent Van der Woude syndrome and Turner syndrome: A case report

    PubMed Central

    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. PMID:28228961

  20. Nested polymerase chain reaction study of 53 cases with Turner`s syndrome: Is cytogenetically undetected Y mosaicism common?

    SciTech Connect

    Binder, G.; Koch, A.; Ranke, M.B.

    1995-12-01

    Turner`s syndrome patients with Y mosaicism face a high risk of developing gonadoblastoma. Cytogenetic analysis can fail to detect rare cells bearing a normal or structurally abnormal Y chromosome (low level Y mosaicism). We screened 53 individuals with Turner`s syndrome for presence of sex-determining region Y (SRY), the testis-specific protein, Y encoded, gene, and the Y centromeric DYZ3 repeat using nested polymerase chain reaction (PCR). Thirty girls (57%) had the 45,X karyotype, determined through standard analysis of blood lymphocytes. The remaining 23 girls (43%) were mosaics and/or had structural abnormalities in 1 X-chromosome. Genomic DNA from blood leukocytes was amplified using 2 rounds of PCR. This method was sensitive enough to detect 0.0001% male DNA on a female background. None of 53 Turner`s syndrome cases was positive for Y-specific loci after the first round of PCR. After the second round, 2 of 53 Turner`s syndrome cases were positive for SRY mapping to the distal short arm of chromosome Y. In 1 SRY-positive subject, the karyotype was 45,X, and in the other, it was 46,Xi(Xq). None of 53 Turner`s syndrome individuals, including the 2 SRY-positive subjects, were positive for the testis-specific protein, Y encoded, gene on the proximal short arm of chromosome Y or the centromeric DYZ3 repeat. These data exclude low level Y mosaicism in almost all Turner`s syndrome cases tested. 35 refs., 3 figs., 1 tab.

  1. Epigenetic Dysfunction in Turner Syndrome Immune Cells.

    PubMed

    Thrasher, Bradly J; Hong, Lee Kyung; Whitmire, Jason K; Su, Maureen A

    2016-05-01

    Turner syndrome (TS) is a chromosomal condition associated with partial or complete absence of the X chromosome that involves characteristic findings in multiple organ systems. In addition to well-known clinical characteristics such as short stature and gonadal failure, TS is also associated with T cell immune alterations and chronic otitis media, suggestive of a possible immune deficiency. Recently, ubiquitously transcribed tetratricopeptide repeat on the X chromosome (UTX), a histone H3 lysine 27 (H3K27) demethylase, has been identified as a downregulated gene in TS immune cells. Importantly, UTX is an X-linked gene that escapes X-chromosome inactivation and thus is haploinsufficient in TS. Mice with T cell-specific UTX deficiency have impaired clearance of chronic viral infection due to decreased frequencies of T follicular helper (Tfh) cells, which are critical for B cell antibody generation. In parallel, TS patients have decreased Tfh frequencies in peripheral blood. Together, these findings suggest that haploinsufficiency of the X-linked UTX gene in TS T cells underlies an immune deficit, which may manifest as increased predisposition to chronic otitis media.

  2. [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.

  3. Physical fitness of schoolgirls with Turner syndrome.

    PubMed

    Milde, Katarzyna; Tomaszewski, Pawel; Stupnicki, Romuald

    2013-02-01

    The aim of the study was to assess physical fitness of girls with Turner syndrome (TS) and to determine the relative contributions of age, body height, and body mass to performance in fitness tests. Girls with TS aged 10-18 years (n = 184), and age- and stature-matched healthy controls (n = 280) were studied with the use of the EUROFIT test battery. Girls with TS were significantly inferior to the control group in maintaining balance, standing broad jump, sit-ups, shuttle run, and endurance shuttle run (p < .001). No significant differences were found for plate tapping, but girls with TS were superior to their healthy mates (p < .001) in handgrip, sit-and-reach, and bent-arm hang. Unlike controls, body height in girls with TS had significant effects on handgrip strength (positive) and on plate tapping speed (negative), other contributions being relatively similar in both groups. It thus seems that the somatic specificity of girls with TS explains most differences in motor fitness. The identified motor deficiencies of girls with TS call for undertaking steps toward attracting those girls to motor activities.

  4. Approach to the patient with Turner syndrome.

    PubMed

    Davenport, Marsha L

    2010-04-01

    Turner syndrome (TS) occurs in about 1:4000 live births and describes females with a broad constellation of problems associated with loss of an entire sex chromosome or a portion of the X chromosome containing the tip of its short arm. TS is associated with an astounding array of potential abnormalities, most of them thought to be caused by haploinsufficiency of genes that are normally expressed by both X chromosomes. A health care checklist is provided that suggests screening tests at specific ages and intervals for problems such as strabismus, hearing loss, and autoimmune thyroid disease. Four areas of major concern in TS are discussed: growth failure, cardiovascular disease, gonadal failure, and learning disabilities. GH therapy should generally begin as soon as growth failure occurs, allowing for rapid normalization of height. Cardiac imaging, preferably magnetic resonance imaging, should be performed at diagnosis and repeated at 5- to 10-yr intervals to assess for congenital heart abnormalities and the emergence of aortic dilatation, a precursor to aortic dissection. Hypertension should be aggressively treated. For those with gonadal dysgenesis, hormonal replacement therapy should begin at a normal pubertal age and be continued until the age of 50 yr. Transdermal estradiol provides the most physiological replacement. Finally, nonverbal learning disabilities marked by deficits in visual-spatial-organizational skills, complex psychomotor skills, and social skills are common in TS. Neuropsychological testing should be routine and families given support in obtaining appropriate therapy, including special accommodations at school.

  5. Turner syndrome and the evolution of human sexual dimorphism

    PubMed Central

    Crespi, Bernard

    2008-01-01

    Turner syndrome is caused by loss of all or part of an X chromosome in females. A series of recent studies has characterized phenotypic differences between Turner females retaining the intact maternally inherited versus paternally inherited X chromosome, which have been interpreted as evidence for effects of X-linked imprinted genes. In this study I demonstrate that the differences between Turner females with a maternal X and a paternal X broadly parallel the differences between males and normal females for a large suite of traits, including lipid profile and visceral fat, response to growth hormone, sensorineural hearing loss, congenital heart and kidney malformations, neuroanatomy (sizes of the cerebellum, hippocampus, caudate nuclei and superior temporal gyrus), and aspects of cognition. This pattern indicates that diverse aspects of human sex differences are mediated in part by X-linked genes, via genomic imprinting of such genes, higher rates of mosaicism in Turner females with an intact X chromosome of paternal origin, karyotypic differences between Turner females with a maternal versus paternal X chromosome, or some combination of these phenomena. Determining the relative contributions of genomic imprinting, karyotype and mosaicism to variation in Turner syndrome phenotypes has important implications for both clinical treatment of individuals with this syndrome, and hypotheses for the evolution and development of human sexual dimorphism. PMID:25567727

  6. A meta-analysis of math performance in Turner syndrome.

    PubMed

    Baker, Joseph M; Reiss, Allan L

    2016-02-01

    Studies investigating the relationship between Turner syndrome and math learning disability have used a wide variation of tasks designed to test various aspects of mathematical competencies. Although these studies have revealed much about the math deficits common to Turner syndrome, their diversity makes comparisons between individual studies difficult. As a result, the consistency of outcomes among these diverse measures remains unknown. The overarching aim of this review is to provide a systematic meta-analysis of the differences in math and number performance between females with Turner syndrome and age-matched neurotypical peers. We provide a meta-analysis of behavioral performance in Turner syndrome relative to age-matched neurotypical populations on assessments of math and number aptitude. In total, 112 comparisons collected across 17 studies were included. Although 54% of all statistical comparisons in our analyses failed to reject the null hypothesis, our results indicate that meaningful group differences exist on all comparisons except those that do not require explicit calculation. Taken together, these results help elucidate our current understanding of math and number weaknesses in Turner syndrome, while highlighting specific topics that require further investigation. © 2015 Mac Keith Press.

  7. A meta-analysis of math performance in Turner syndrome

    PubMed Central

    Baker, Joseph M; Reiss, Allan L

    2015-01-01

    AIM Studies investigating the relationship between Turner syndrome and math learning disability have used a wide variation of tasks designed to test various aspects of mathematical competencies. Although these studies have revealed much about the math deficits common to Turner syndrome, their diversity makes comparisons between individual studies difficult. As a result, the consistency of outcomes among these diverse measures remains unknown. The overarching aim of this review is to provide a systematic meta-analysis of the differences in math and number performance between females with Turner syndrome and age-matched neurotypical peers. METHOD We provide a meta-analysis of behavioral performance in Turner syndrome relative to age-matched neurotypical populations on assessments of math and number aptitude. In total, 112 comparisons collected across 17 studies were included. RESULTS Although 54% of all statistical comparisons in our analyses failed to reject the null hypothesis, our results indicate that meaningful group differences exist on all comparisons except those that do not require explicit calculation. INTERPRETATION Taken together, these results help elucidate our current understanding of math and number weaknesses in Turner syndrome, while highlighting specific topics that require further investigation. PMID:26566693

  8. Arousal Modulation in Females with Fragile X or Turner Syndrome

    ERIC Educational Resources Information Center

    Roberts, Jane; Mazzocco, Michele M. M.; Murphy, Melissa M.; Hoehn-Saric, Rudolf

    2008-01-01

    The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance), across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was…

  9. Arousal Modulation in Females with Fragile X or Turner Syndrome

    ERIC Educational Resources Information Center

    Roberts, Jane; Mazzocco, Michele M. M.; Murphy, Melissa M.; Hoehn-Saric, Rudolf

    2008-01-01

    The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance), across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was…

  10. Turner syndrome and autoimmune diseases: record-linkage study.

    PubMed

    Goldacre, Michael J; Seminog, Olena O

    2014-01-01

    There is increasing evidence that Turner syndrome is associated with an elevated risk of a range of autoimmune disorders. We aimed to document this in a national study. Use of a record-linked dataset of all hospital admissions in England, 1999-2011, to construct a retrospective cohort of people with Turner syndrome and a control cohort of people without it. Statistical follow-up to identify the occurrence of 29 separate autoimmune disorders in each cohort. Calculation of rate ratios, comparing the Turner and control cohorts. In the Turner syndrome cohort (2459 people), rate ratios were elevated for 16 of the 29 conditions. Examples included coeliac disease (rate ratio 14.0, 95% CI 10.2 to 18.8), Crohn's disease (5.3, 3.5 to 7.8), ulcerative colitis (3.9, 2.3 to 6.1), hypothyroidism (8.8, 7.8 to 9.9) and hyperthyroidism (4.9, 3.2 to 7.1). The increased risk of autoimmune disorders in people with Turner syndrome covers a wide range of conditions.

  11. Management of Turner syndrome in adult life and beyond.

    PubMed

    Castelo-Branco, Camil

    2014-12-01

    To describe in practical terms the clinical management in adult life of patients with Turner syndrome. Systematic review of the literature and practical issues. An evaluation of clinical trials, meta-analysis, case reports and reviews assessing the management of different conditions related to Turner syndrome was done using the following data sources: Medline, PubMed (from 1966 to July 2014) and the Cochrane Controlled Clinical Trials Register, Embase (up to July 2014). Extracted information is summarized here on karyotype, screening of malformations, malformations debuting in adult life, final height, treatments with growth hormone, cardiovascular risk, endocrino-metabolic and liver abnormalities, sensorineural disorders and osteoporosis and its treatment. This review provides recommendations for the management of adult patients with Turner syndrome and insight into the associated medical complaints. A link between karyotypes and clinical features suggests a novel hypothesis to explain the different phenotypes and clinical abnormalities of these patients. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  12. Turner Syndrome: Searching for Better Outcomes

    PubMed Central

    Ramos, Adauto Versiani; Silva, Ivani Novato; Goulart, Eugênio Marcos Andrade

    2008-01-01

    OBJECTIVES To assess the results of growth hormone on the growth of girls with Turner Syndrome and identify relevant parameters to improve outcomes. METHODS Growth velocity and final height were studied in a historical cohort of 41 girls, regularly followed up for hormone distribution at three referral centers. The influence of oxandrolone and of estrogens on the final height was analyzed. The girls (initial chronological age=8.9±3.4years; initial bone age=7.0±3.1years) used 0.19 mg/kg/week of growth hormone for 4.0 ± 2.0 years. RESULTS In the first year, growth velocity increased by 71.5% in 41 girls and 103.4% in those who reached final height (11 girls). The whole group had a gain in the height SDS of 0.8 ± 0.7 (p<0.01) and for those who reached a final height of 1.0 ± 0.8 (p<0.01). Final height (143.6 ±6.3 cm) was 3.9 ± 5.3 cm higher than the predicted height, and the height gain occurred before estrogen therapy. Oxandrolone had no significant influence on height gain. The significant variables contributing to the final height were the duration of growth hormone used and its use prior to starting estrogens, the initial height SDS, and the growth velocity during the first year of treatment. CONCLUSIONS We concluded that the use of growth hormone significantly increased the final height, which remained lower than the target. Results point to a need for starting growth hormone use as early as possible and to maximize treatment before estrogen replacement. It has been observed that even moderate doses of growth hormone may significantly increase early growth velocity. PMID:18438570

  13. Recurrent Vocal Fold Paralysis and Parsonage-Turner Syndrome

    PubMed Central

    Joffily, Lucia; Vincent, Maurice Borges

    2013-01-01

    Background. Parsonage-Turner syndrome, or neuralgic amyotrophy (NA), is an acute brachial plexus neuritis that typically presents with unilateral shoulder pain and amyotrophy but also can affect other peripheral nerves, including the recurrent laryngeal nerve. Idiopathic vocal fold paralysis (VFP) represents approximately 12% of the VFP cases and recurrence is extremely rare. Methods and Results. We report a man with isolated recurrent unilateral right VFP and a diagnosis of NA years before. Conclusions. We emphasize that shoulder pain and amyotrophy should be inquired in any patient suffering from inexplicable dysphonia, and Parsonage-Turner syndrome should be considered in the differential diagnosis of idiopathic VFP. PMID:24288639

  14. Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X).

    PubMed

    Cappella, Michela; Graziani, Vanna; Pragliola, Antonella; Sensi, Alberto; Hussain, Khalid; Muratori, Claudia; Marchetti, Federico

    2015-01-01

    Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X) Turner syndrome. We report the four cases of an infant with a mosaic r(X) Turner genotype and HH responsive to diazoxide therapy.

  15. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    PubMed

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  16. Cephalometric analysis of adults with Turner syndrome.

    PubMed

    Svanberg, Christina; Norevall, Lars-Inge; Ekman, Bertil; Wahlberg, Jeanette; Bågesund, Mats

    2016-01-01

    Turner syndrome (TS) is a genetic disorder of females with a prevalence of 1/2000-3000 live female births. The aim of this study was to compare cephalometric variables from adult women diagnosed with TS to a standardized reference group of 31-year old healthy women, and to evaluate the possible effects of human growth hormone (hGH) therapy in women with TS. Registered TS subjects in the Southeast region of Sweden were invited to take part in the study. Twenty-one women aged 36 ± 13(18-57) years accepted participation. Lateral radiographs of the head were analyzed using standard cephalometric methods (Hasund analysis) and with the commercially available soft-ware program FACAD. Comparisons were made with roentgen-cephalometric standards from a reference group of nineteen 31-year old Swedish women. Analysis of the cephalometric radiographs from the TS subjects showed a more retrognathic maxilla (SNA 80.3 ± 5.4) (p = 0.0460) and mandible (SNB 77.0 ± 5.2) (p = 0.0014), and a correspondingly backward position of the chin (SN/Pg 78.9 ± 5.5) (p = 0.0046) as compared to the reference values of 31-year old women (SNA 83.2 ± 3.0, SN B 81.5 ± 2.3 and SNPg 83.0 ± 2.3, respectively). In addition there was an increased posterior inclination of the maxilla (SN/NL 8.6 ± 4.1), as compared to the reference values (SN/NL 5.3 ± 2.7) (p = 0.0048). There were no significant differences regarding sagittal or vertical jaw relations, mandibular inclination or cranial base angle between the TS-group and the 31-year olds with the reference values. No significant difference was seen in jaw relationship, as measured by the ANB value, however the Wits(index) (3.3 ± 3.5) was higher (p = 0.0001) than the reference values (-0.1 ± 1.8). Subjects with or without previous hGH administration did,not show any significant differences in cephalometric values. In conclusion, women with TS had a significantly more retrognathic maxilla (SNA) and mandible (SNB) and a correspondingly significantly

  17. Communication Problems in Turner Syndrome: A Sample Survey.

    ERIC Educational Resources Information Center

    Van Borsel, John; Dhooge, Inge; Verhoye, Kristof; Derde, Kristel; Curfs, Leopold

    1999-01-01

    A survey of 128 females (ages 2-58) with Turner syndrome found almost one quarter were receiving or had received treatment for stuttering, articulation problems, and/or delayed language development, with the latter two disorders being checked most frequently. Only 4 or the 68 individuals receiving growth hormone treatment reported voice changes.…

  18. The Psychoeducational Characteristics of Children with Turner Syndrome.

    ERIC Educational Resources Information Center

    Rovet, Joanne F.

    1993-01-01

    This study compared psychoeducational characteristics of 67 children (ages 6-16) with Turner syndrome and 27 nonaffected controls. Subjects exhibited selective impairments in visuospatial and memory areas; significant underachievement in arithmetic; poor social competence; and increased behavior problems, particularly in the area of hyperactivity.…

  19. Cognitive Ability and Everyday Functioning in Women with Turner Syndrome.

    ERIC Educational Resources Information Center

    Downey, Jennifer; And Others

    1991-01-01

    Comparison of 23 Turner syndrome (TUS) women with 23 women with constitutional short stature (CSS) found significant group differences for Performance and Full Scale IQ, largely due to TUS women's deficits in spatial and mathematical ability. TUS individuals had significantly lower educational and occupational attainment than CSS controls but did…

  20. Turner Syndrome: Neuroimaging Findings--Structural and Functional

    ERIC Educational Resources Information Center

    Mullaney, Ronan; Murphy, Declan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…

  1. Turner Syndrome: Neuroimaging Findings--Structural and Functional

    ERIC Educational Resources Information Center

    Mullaney, Ronan; Murphy, Declan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…

  2. Cardiac Magnetic Resonance Imaging in Pediatric Turner Syndrome.

    PubMed

    Somerville, Scott; Rosolowsky, Elizabeth; Suntratonpipat, Somjate; Girgis, Rose; Goot, Benjamin H; Tham, Edythe B

    2016-08-01

    To compare the detection of cardiac lesions with the use of cardiac magnetic resonance imaging (CMR) and conventional echocardiography in children with Turner syndrome. Twenty-four girls with Turner syndrome, 8-18 years of age, were recruited through the Pediatric Endocrinology Program. Participants underwent CMR and echocardiography within a 2-year period, and discrepancies between the results of each modality were identified. Fifteen of 24 (63%) girls had a cardiac lesion identified on CMR or echocardiography. Both modalities identified the same lesion in 10 of 15 (67%); however, 6 of 15 (40%) participants had a lesion identified on CMR but not echocardiography. Participants with a missed lesion had a trend towards greater body mass index. Aortic dilation and bicuspid aortic valve were the most commonly missed lesions by echocardiography. CMR identifies significant cardiac lesions missed by echocardiography in pediatric patients with Turner syndrome, particularly along the aorta. These findings support the current guidelines that recommend screening CMR in addition to echocardiogram. Early identification of cardiac abnormalities in patients with Turner syndrome will allow for a greater understanding of the natural history in these patients and potentially identify candidates for earlier intervention. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. The Psychoeducational Characteristics of Children with Turner Syndrome.

    ERIC Educational Resources Information Center

    Rovet, Joanne F.

    1993-01-01

    This study compared psychoeducational characteristics of 67 children (ages 6-16) with Turner syndrome and 27 nonaffected controls. Subjects exhibited selective impairments in visuospatial and memory areas; significant underachievement in arithmetic; poor social competence; and increased behavior problems, particularly in the area of hyperactivity.…

  4. Communication Problems in Turner Syndrome: A Sample Survey.

    ERIC Educational Resources Information Center

    Van Borsel, John; Dhooge, Inge; Verhoye, Kristof; Derde, Kristel; Curfs, Leopold

    1999-01-01

    A survey of 128 females (ages 2-58) with Turner syndrome found almost one quarter were receiving or had received treatment for stuttering, articulation problems, and/or delayed language development, with the latter two disorders being checked most frequently. Only 4 or the 68 individuals receiving growth hormone treatment reported voice changes.…

  5. Cognitive Ability and Everyday Functioning in Women with Turner Syndrome.

    ERIC Educational Resources Information Center

    Downey, Jennifer; And Others

    1991-01-01

    Comparison of 23 Turner syndrome (TUS) women with 23 women with constitutional short stature (CSS) found significant group differences for Performance and Full Scale IQ, largely due to TUS women's deficits in spatial and mathematical ability. TUS individuals had significantly lower educational and occupational attainment than CSS controls but did…

  6. Growth hormone positive effects on craniofacial complex in Turner syndrome.

    PubMed

    Juloski, Jovana; Dumančić, Jelena; Šćepan, Ivana; Lauc, Tomislav; Milašin, Jelena; Kaić, Zvonimir; Dumić, Miroslav; Babić, Marko

    2016-11-01

    Turner syndrome occurs in phenotypic females with complete or partial absence of X chromosome. The leading symptom is short stature, while numerous but mild stigmata manifest in the craniofacial region. These patients are commonly treated with growth hormone to improve their final height. The aim of this study was to assess the influence of long-term growth hormone therapy on craniofacial morphology in Turner syndrome patients. In this cross-sectional study cephalometric analysis was performed on 13 lateral cephalograms of patients with 45,X karyotype and the average age of 17.3 years, who have received growth hormone for at least two years. The control group consisted of 13 Turner syndrome patients naive to growth hormone treatment, matched to study group by age and karyotype. Sixteen linear and angular measurements were obtained from standard lateral cephalograms. Standard deviation scores were calculated in order to evaluate influence of growth hormone therapy on craniofacial components. In Turner syndrome patients treated with growth hormone most of linear measurements were significantly larger compared to untreated patients. Growth hormone therapy mainly influenced posterior face height, mandibular ramus height, total mandibular length, anterior face height and maxillary length. While the increase in linear measurements was evident, angular measurements and facial height ratio did not show statistically significant difference. Acromegalic features were not found. Long-term growth hormone therapy has positive influence on craniofacial development in Turner syndrome patients, with the greatest impact on posterior facial height and mandibular ramus. However, it could not compensate X chromosome deficiency and normalize craniofacial features. Copyright © 2016 Elsevier Ltd. All rights reserved.

  7. Math Achievement, Numerical Processing, and Executive Functions in Girls with Turner Syndrome: Do Girls with Turner Syndrome Have Math Learning Disability?

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.; Hanich, Laurie B.

    2010-01-01

    Turner syndrome is a common genetic disorder associated with select deficits in executive functions, working memory and mathematics. In Study 1, we examined growth trajectories of skills in these areas, from grades 1 to 6, among girls with or without Turner syndrome. Rates of growth and performance levels at 6th grade, on an untimed math…

  8. Math Achievement, Numerical Processing, and Executive Functions in Girls with Turner Syndrome: Do Girls with Turner Syndrome Have Math Learning Disability?

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.; Hanich, Laurie B.

    2010-01-01

    Turner syndrome is a common genetic disorder associated with select deficits in executive functions, working memory and mathematics. In Study 1, we examined growth trajectories of skills in these areas, from grades 1 to 6, among girls with or without Turner syndrome. Rates of growth and performance levels at 6th grade, on an untimed math…

  9. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

    PubMed Central

    Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Mazıcıoğlu, Mümtaz M.; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Sağlam, Celal; Gül, Davut; Polat, Adem; Açıkel, Cengizhan; Cinaz, Peyami

    2015-01-01

    Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients. PMID:26831551

  10. Cytogenetic findings in Serbian patients with Turner's syndrome stigmata.

    PubMed

    Djordjević, V A; Jovanović, J V; Pavković-Lučić, S B; Drakulić, D D; Djurović, M M; Gotić, M D

    2010-11-09

    Cytogenetic findings are reported for 31 female patients with Turner's syndrome. Chromosome studies were made from lymphocyte cultures. Non-mosaicism 45,X was demonstrated in 15 of these patients, whereas only three were apparently mosaic. Eight patients showed non-mosaic and four patients showed mosaic structural aberrations of the X-chromosome. One non-mosaic case displayed a karyotype containing a small marker chromosome. Conventional cytogenetics was supplemented by fluorescence in situ hybridization (FISH) with an X-specific probe to identify the chromosomal origin of the ring and a 1q12-specific DNA probe to identify de novo balanced translocation (1;9) in one patient. To our knowledge, this is the first finding of karyotype 45,X,t(1;9)(cen;cen)/46,X,r(X),t(1;9)(cen;cen) in Turner's syndrome. The same X-specific probe was also used to identify a derivative chromosome in one patient.

  11. Familial hypopituitarism associated with mosaic form of Turner syndrome.

    PubMed

    Lomna-Bogdanov, Elzbieta; Bolanowski, Marek; Slezak, Ryszard; Sokolska, Violetta; Pałczyiński, Bogusław; Spring, Adam; Demissie, Marek

    2005-01-01

    We present herein an unusual coincidence of familial hypopituitarism associated with a mosaic form of Turner syndrome in two adult sisters (51 and 43 years old). Both patients had hypopituitarism diagnosed in childhood. They have never been administered growth hormone, and remained short in stature. They were not given long-term estrogen-progestin treatment, despite lack of menstruation. Early in childhood both received thyroid hormone substitution. Pituitary imaging revealed pituitary hypoplasia with partial empty sella in one sister, and pituitary hypoplasia in the other. Very recently, during endocrinological evaluation, they were diagnosed with a mosaic form of Turner syndrome, additionally to their hypopituitarism. In this paper, we place special emphasis on the results of hormonal analyses and discuss the differential diagnosis.

  12. Parsonage-Turner Syndrome rather than Zoster Neuritis?

    PubMed Central

    Gariani, Karim; Magistris, Michel R.; Nendaz, Mathieu R.

    2011-01-01

    We report the case of an 86-year-old man with acute left shoulder pain, followed by left limb monoparesis and a herpetic rash on the left upper limb and thoracic region. This situation presented a diagnostic challenge because of the simultaneity of symptoms attributable to Parsonage-Turner syndrome and herpes zoster neuropathy. A detailed clinical history, physical examination and electroneuromyography were essential to distinguish the neurological structures involved and to ascertain the diagnosis. PMID:21829402

  13. Precocious puberty in a patient with mosaic Turner syndrome.

    PubMed

    Sandal, G; Pirgon, O

    2014-01-01

    Turner syndrome (TS) is one of the most common human chromosome abnormalities, occurring in approximately 1:2500 live female births. Short stature, ovarian dysgenesis and infertility are clinical hallmarks in the majority of patients with TS. The incidence of spontaneous puberty in TS is reported to be about one third. Precocious puberty in TS patients is very rare. Herein, we report precocious puberty in a case with TS.

  14. Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

    PubMed

    Zeng, Wen-Heng; Xu, Jiao-Jun; Jia, Min-Yue; Ren, Yue-Zhong

    2014-10-01

    To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.

  15. Features of Turner syndrome among a group of Cameroonian patients.

    PubMed

    Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene

    2015-06-01

    To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  16. Identification of Y-Chromosome Sequences in Turner Syndrome.

    PubMed

    Silva-Grecco, Roseane Lopes da; Trovó-Marqui, Alessandra Bernadete; Sousa, Tiago Alves de; Croce, Lilian Da; Balarin, Marly Aparecida Spadotto

    2016-05-01

    To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome. The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences DYZ1, DYZ3, ZFY and SRY were amplified by Polymerase Chain Reaction. The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis. The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.

  17. Laparoscopic Removal of Streak Gonads in Turner Syndrome.

    PubMed

    Mandelberger, Adrienne; Mathews, Shyama; Andikyan, Vaagn; Chuang, Linus

    To demonstrate the skills necessary for complete resection of bilateral streak gonads in Turner syndrome. Video case presentation with narration highlighting the key techniques used. The video was deemed exempt from formal review by our institutional review board. Turner syndrome is a form of gonadal dysgenesis that affects 1 in 2500 live births. Patients often have streak gonads and may present with primary amenorrhea or premature ovarian failure. Patients with a mosaic karyotype that includes a Y chromosome are at increased risk for gonadoblastoma and subsequent transformation into malignancy. Gonadectomy is recommended for these patients, typically at adolescence. Streak gonads can be difficult to identify, and tissue margins are often in close proximity to critical retroperitoneal structures. Resection can be technically challenging and requires a thorough understanding of retroperitoneal anatomy and precise dissection techniques to ensure complete removal. Laparoscopic approach to bilateral salpingo-oophorectomy of streak gonads. Retroperitoneal dissection and ureterolysis are performed, with the aid of the Ethicon Harmonic Ace, to ensure complete gonadectomy. Careful and complete resection of gonadal tissue in the hands of a skilled laparoscopic surgeon is key for effective cancer risk reduction surgery in Turner syndrome mosaics. Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.

  18. What more can be done for girls and women with Turner's syndrome and their parents?

    PubMed

    Nielsen, J

    1989-01-01

    More should be done for Turner's girls/women and their parents. There is a need for early diagnosis, provision of information to Turner's parents, girls and women, provision of a support system in the form of Turner's contact groups, relevant treatment of all Turner's related disorders and problems at the appropriate age. More information is needed, including information given by physicians and Turner's women in journals, radio and television. This has been happening in Denmark during recent years. Turner's contact groups should be available in all countries, and all Turner's girls and women and their parents should be encouraged to join such groups. More research should be undertaken concerning growth, growth stimulating treatment, oestrogen treatment and in vitro fertilization in Turner's syndrome; more social-psychological studies are also needed.

  19. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome.

    PubMed

    Mishra, Vineet V; Pritti, Kumari; Aggarwal, Rohina; Choudhary, Sumesh

    2015-01-01

    We present a patient with nonclassic congenital adrenal hyperplasia (NCAH) misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP). The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH.

  20. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

    PubMed Central

    Mishra, Vineet V.; Pritti, Kumari; Aggarwal, Rohina; Choudhary, Sumesh

    2015-01-01

    We present a patient with nonclassic congenital adrenal hyperplasia (NCAH) misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP). The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH. PMID:26751945

  1. Overlap syndromes among autoimmune liver diseases.

    PubMed

    Rust, Christian; Beuers, Ulrich

    2008-06-07

    The three major immune disorders of the liver are autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC). Variant forms of these diseases are generally called overlap syndromes, although there has been no standardised definition. Patients with overlap syndromes present with both hepatitic and cholestatic serum liver tests and have histological features of AIH and PBC or PSC. The AIH-PBC overlap syndrome is the most common form, affecting almost 10% of adults with AIH or PBC. Single cases of AIH and autoimmune cholangitis (AMA-negative PBC) overlap syndrome have also been reported. The AIH-PSC overlap syndrome is predominantly found in children, adolescents and young adults with AIH or PSC. Interestingly, transitions from one autoimmune to another have also been reported in a minority of patients, especially transitions from PBC to AIH-PBC overlap syndrome. Overlap syndromes show a progressive course towards liver cirrhosis and liver failure without treatment. Therapy for overlap syndromes is empiric, since controlled trials are not available in these rare disorders. Anticholestatic therapy with ursodeoxycholic acid is usually combined with immunosuppressive therapy with corticosteroids and/or azathioprine in both AIH-PBC and AIH-PSC overlap syndromes. In end-stage disease, liver transplantation is the treatment of choice.

  2. Overlap syndromes among autoimmune liver diseases

    PubMed Central

    Rust, Christian; Beuers, Ulrich

    2008-01-01

    The three major immune disorders of the liver are autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC). Variant forms of these diseases are generally called overlap syndromes, although there has been no standardized definition. Patients with overlap syndromes present with both hepatitic and cholestatic serum liver tests and have histological features of AIH and PBC or PSC. The AIH-PBC overlap syndrome is the most common form, affecting almost 10% of adults with AIH or PBC. Single cases of AIH and autoimmune cholangitis (AMA-negative PBC) overlap syndrome have also been reported. The AIH-PSC overlap syndrome is predominantly found in children, adolescents and young adults with AIH or PSC. Interestingly, transitions from one autoimmune to another have also been reported in a minority of patients, especially transitions from PBC to AIH-PBC overlap syndrome. Overlap syndromes show a progressive course towards liver cirrhosis and liver failure without treatment. Therapy for overlap syndromes is empiric, since controlled trials are not available in these rare disorders. Anticholestatic therapy with ursodeoxycholic acid is usually combined with immunosuppressive therapy with corticosteroids and/or azathioprine in both AIH-PBC and AIH-PSC overlap syndromes. In end-stage disease, liver transplantation is the treatment of choice. PMID:18528934

  3. Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.

    PubMed

    Handler, Marc Z; Derrick, Kristina M; Lutz, Richard E; Morrell, Dean S; Davenport, Marsha L; Armstrong, April W

    2013-05-01

    The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation. To ascertain the prevalence of pilomatricoma among patients with Turner syndrome and to determine any association between the development of pilomatricomas and the use of exogenous hormones in patients with Turner syndrome. A retrospective medical record review from January 1, 2000, through January 1, 2010, was performed of all patients with Turner syndrome. Data on pilomatricomas and the use of hormone therapy were collected. University of California-Davis Medical Center, University of Nebraska Medical Center, and The University of North Carolina at Chapel Hill. Patients with a diagnosis of Turner syndrome. Prevalence of concomitant pilomatricoma and diagnosis of Turner syndrome. Secondary outcome measures included the use of the exogenous hormones estrogen or recombinant human growth hormone (rhGH). In total, 311 patients with Turner syndrome were identified from these 3 institutions. Among them, 8 patients (2.6%) were diagnosed as having pilomatricomas. Before the development of pilomatricomas, 5 patients had been treated with rhGH but not estrogen, 1 patient had received estrogen but not rhGH, and 2 patients did not receive either therapy. Although the prevalence of pilomatricoma among the general population is unknown, this study demonstrates a high prevalence (2.6%) of pilomatricomas among patients with Turner syndrome. No apparent relationship was noted among our patients or in the literature between the use of rhGH and the development of pilomatricomas.

  4. Improved Spatial Ability Correlated with Left Hemisphere Dysfunction in Turner's Syndrome. Implications for Mechanism.

    ERIC Educational Resources Information Center

    Rovet, Joanne F.

    This study contrasts the performance of a 17-year-old female subject with Turner's syndrome before and after developing left temporal lobe seizures, as a means of identifying the mechanism responsible for the Turner's syndrome spatial impairment. The results revealed a deficit in spatial processing before onset of the seizure disorder. Results…

  5. Mathematical Learning Disability in Girls with Turner Syndrome: A Challenge to Defining MLD and Its Subtypes

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.

    2009-01-01

    Turner syndrome is a common disorder with a prevalence of 1:2,500 live female births. Although not associated with mental retardation, there is an increased risk of learning difficulties in this population. In particular, mathematical learning difficulties among girls with Turner syndrome are prevalent, significant, and persistent. As such, the…

  6. Leiomyosarcoma of the Oropharynx and Neurogenic Tumors in a Young Patient With Turner's Syndrome

    PubMed Central

    Apice, Gaetano; Silvestro, Giustino; Losito, Simona; Botti, Gerardo; Ionna, Francesco; De Rosa, Vincenzo; Borghese, Annamaria; Ninfo, Vito

    2001-01-01

    Patient: A case of Turner's syndrome developing a leiomyosarcoma of the oropharynx and metachronous neurogenic tumors (mediastinal ‘ganglioneuroblastoma intermixed’, subcutaneous neurilemoma) is described. Discussion: To our knowledge, this case is the second reported leiomyosarcoma in a patient with Turner's syndrome. Also the site of involvement (palate and oropharynx) is particularly unusual for the already rare leiomyosarcomas in the young age. PMID:18521442

  7. Mathematical Learning Disability in Girls with Turner Syndrome: A Challenge to Defining MLD and Its Subtypes

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.

    2009-01-01

    Turner syndrome is a common disorder with a prevalence of 1:2,500 live female births. Although not associated with mental retardation, there is an increased risk of learning difficulties in this population. In particular, mathematical learning difficulties among girls with Turner syndrome are prevalent, significant, and persistent. As such, the…

  8. Improved Spatial Ability Correlated with Left Hemisphere Dysfunction in Turner's Syndrome. Implications for Mechanism.

    ERIC Educational Resources Information Center

    Rovet, Joanne F.

    This study contrasts the performance of a 17-year-old female subject with Turner's syndrome before and after developing left temporal lobe seizures, as a means of identifying the mechanism responsible for the Turner's syndrome spatial impairment. The results revealed a deficit in spatial processing before onset of the seizure disorder. Results…

  9. Math Learning Disability and Math LD Subtypes: Evidence from Studies of Turner Syndrome, Fragile X Syndrome, and Neurofibromatosis Type 1.

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.

    2001-01-01

    This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…

  10. Math Learning Disability and Math LD Subtypes: Evidence from Studies of Turner Syndrome, Fragile X Syndrome, and Neurofibromatosis Type 1.

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.

    2001-01-01

    This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…

  11. Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

    PubMed

    Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

    2016-04-01

    Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  12. Mathematics Learning Disability in Girls with Turner Syndrome or Fragile X Syndrome

    ERIC Educational Resources Information Center

    Murphy, Melissa M.; Mazzocco, Michele M. M.; Gerner, Gwendolyn; Henry, Anne E.

    2006-01-01

    Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group,…

  13. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    PubMed

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  14. Mathematics Learning Disability in Girls with Turner Syndrome or Fragile X Syndrome

    ERIC Educational Resources Information Center

    Murphy, Melissa M.; Mazzocco, Michele M. M.; Gerner, Gwendolyn; Henry, Anne E.

    2006-01-01

    Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group,…

  15. An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis.

    PubMed

    Minzala, G; Ismail, G

    2016-10-01

    Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome.

  16. Aortic dissection and Turner's syndrome: case report and review of the literature.

    PubMed

    Bordeleau, L; Cwinn, A; Turek, M; Barron-Klauninger, K; Victor, G

    1998-01-01

    Cardiovascular abnormalities are frequently encountered in patients with Turner's syndrome. These include coarctation of the aorta, aortic root dilatation, bicuspid aortic valve, atrial and ventricular septal defects. Aortic dissection is a rare but devastating complication of Turner's syndrome that usually occurs in adulthood. We report a case of Turner's syndrome with coarctation of the aorta and chronic aortic dissection, and review the relevant literature. There have been 21 prior reported cases of aortic dissection in patients with Turner's syndrome. Possible etiologic factors contributing to the occurrence of aortic dissection in this syndrome are protean. They include the presence of cystic medial necrosis, coarctation of the aorta, bicuspid aortic valve, aortic root dilatation, and hypertension, although cases of aortic dissection and Turner's syndrome have been described in patients without any risk factors. As our knowledge of the natural history of congenital heart defects and risk factors for aortic dissection in Turner's syndrome is limited, periodic cardiac evaluation of these patients may be warranted. Early recognition and treatment of this potentially lethal complication of Turner's syndrome is essential.

  17. Growth hormone therapy and bone mineral density in Turner syndrome.

    PubMed

    Bakalov, Vladimir K; Van, Phillip L; Baron, Jeffrey; Reynolds, James C; Bondy, Carolyn A

    2004-10-01

    In a previous report, preliminary data showed a significant reduction in cortical bone mineral density (BMD) in women with Turner syndrome that had been treated with GH compared with women with Turner syndrome that had not been treated. To clarify this point, we have investigated the effects of GH treatment at multiple sites in this case-control, cross-sectional study. There were 23 women per group, who were similar in age, height, body mass index, estrogen use, and ethnic makeup. Median age (range) at start and duration of GH treatment was 9 (3-17) and 5 (2-9) yr, respectively. GH-treated women had a slightly greater ( approximately 8%, P = 0.03) width of the radial shaft, but otherwise there were no significant differences between groups in bone dimensions or BMD at the distal radius, lumbar spine, or femoral neck. Furthermore, regression analysis in a linear model including independent variables of age, age at diagnosis, body mass index, presence of spontaneous puberty, and GH use confirmed that GH use did not contribute to variation in BMD.

  18. Widespread DNA hypomethylation and differential gene expression in Turner syndrome

    PubMed Central

    Trolle, Christian; Nielsen, Morten Muhlig; Skakkebæk, Anne; Lamy, Philippe; Vang, Søren; Hedegaard, Jakob; Nordentoft, Iver; Ørntoft, Torben Falck; Pedersen, Jakob Skou; Gravholt, Claus Højbjerg

    2016-01-01

    Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study investigates the leukocyte DNAmethylation profile by using the 450K-Illumina Infinium assay and the leukocyte RNA-expression profile in 45,X monosomy compared with karyotypically normal female and male controls. We present results illustrating that genome wide X-chromosome RNA-expression profile, autosomal DNA-methylation profile, and the X-chromosome methylation profile clearly distinguish Turner syndrome from controls. Our results reveal genome wide hypomethylation with most differentially methylated positions showing a medium level of methylation. Contrary to previous studies, applying a single loci specific analysis at well-defined DNA loci, our results indicate that the hypomethylation extend to repetitive elements. We describe novel candidate genes that could be involved in comorbidity in TS and explain congenital urinary malformations (PRKX), premature ovarian failure (KDM6A), and aortic aneurysm formation (ZFYVE9 and TIMP1). PMID:27687697

  19. Growth curves of Egyptian patients with Turner syndrome.

    PubMed

    El-Bassyouni, Hala T; Afifi, Hanan H; Aglan, Mona S; Mahmoud, Wael M; Zaki, Moushira E

    2012-11-01

    This study analyzes the body anthropometric measurements in females with Turner syndrome (TS) not treated with recombinant human growth hormone. Height, weight, head circumference, and body mass index (BMI) data were collected from 93 patients. Their ages ranged from 6 months to 24 years (mean 10 ± 4.3 years). Chromosomal analysis revealed: 55 patients with 45,X and 38 patients with mosaic karyotypes. Patients were divided into yearly age groups. Standard growth curves were constructed for these Egyptian Turner syndrome (TS) patients. Mean and standard deviations were estimated across the age groups. When comparing the mean heights of patients to the Egyptian standards, short stature (≤2 SD) was found in 96.8% of patients older than 6 years. Patients' mean weight and BMI were higher than controls. The mean height of the studied Egyptian patients was slightly lower than that of females with TS in UK and European patients. Therefore, local reference values are more appropriate than International standards. The charts presented here can be used to optimize routine healthcare for Egyptian TS patients. The use of growth charts specific for Egyptian TS patients can help to discover early physical developmental delay and suggests the necessity of looking for concomitant diseases affecting growth.

  20. A case of Klippel-Feil and Turner syndromes.

    PubMed

    Park, Jae Hyun; Tai, Kiyoshi; Sato, Yasumori; Nishiyama, Akiyoshi; Shin, Je-Won

    2012-01-01

    The purpose of this paper was to describe the clinical case of a 12-year-old female patient with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP). The patient's general appearance was characterized by KFS, a clinical triad consisting of congenital fusion of at least 2 of 7 cervical vertebrae with a short neck, limited head motion, and a low posterior hairline. Three-dimensional images from cone-beam computed tomography (CBCT) revealed cervical vertebrae anomalies and submucous CP. It was reported that the patient had TS and has been administered growth hormone (GH) therapy. Due to a skeletal class III pattern with a steep mandibular plane angle, facial asymmetry, and fused cervical vertebrae, GH's effects on the craniofacial complex should be considered before orthopedic/orthodontic treatment is started.

  1. Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology.

    PubMed

    Mortensen, Kristian H; Andersen, Niels H; Gravholt, Claus H

    2012-10-01

    Cardiovascular disease is emerging as a cardinal trait of Turner syndrome, being responsible for half of the 3-fold excess mortality. Turner syndrome has been proposed as an independent risk marker for cardiovascular disease that manifests as congenital heart disease, aortic dilation and dissection, valvular heart disease, hypertension, thromboembolism, myocardial infarction, and stroke. Risk stratification is unfortunately not straightforward because risk markers derived from the general population inadequately identify the subset of females with Turner syndrome who will suffer events. A high prevalence of endocrine disorders adds to the complexity, exacerbating cardiovascular prognosis. Mounting knowledge about the prevalence and interplay of cardiovascular and endocrine disease in Turner syndrome is paralleled by improved understanding of the genetics of the X-chromosome in both normal health and disease. At present in Turner syndrome, this is most advanced for the SHOX gene, which partly explains the growth deficit. This review provides an up-to-date condensation of current state-of-the-art knowledge in Turner syndrome, the main focus being cardiovascular morbidity and mortality. The aim is to provide insight into pathogenesis of Turner syndrome with perspectives to advances in the understanding of genetics of the X-chromosome. The review also incorporates important endocrine features, in order to comprehensively explain the cardiovascular phenotype and to highlight how raised attention to endocrinology and genetics is important in the identification and modification of cardiovascular risk.

  2. Moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner syndrome: report of the international turner syndrome aortic dissection registry.

    PubMed

    Carlson, Misty; Airhart, Nathan; Lopez, Leo; Silberbach, Michael

    2012-10-30

    Girls and women with Turner syndrome are at risk for aortic dissection and rupture. However, the size of the aorta and the clinical characteristics among those with Turner syndrome and dissection have received little attention. We obtained medical records from 20 individuals who voluntarily participated in the International Turner Syndrome Aortic Dissection Registry. Type A dissections occurred in 17 of 20 (85%) cases, and type B occurred in 3 cases of which 1 occurred after coarctation stent placement. Of those with spontaneous aortic dissections, 18 of 19 (95%) had an associated cardiac malformation that included a bicuspid aortic valve. In 1 individual there was no predisposing finding other than the presence of Turner syndrome. Associated pregnancy was documented in 1 of 19 (5%). More than half (13/19, 68%) came to medical attention >24 hours after the onset of symptoms. For those with type A dissections, the mean ascending aortic size index was 2.7±0.6 cm/m(2) (n=9). Aortic dissection in Turner syndrome occurs in young individuals at smaller aortic diameters than in the general population or other forms of genetically triggered aortopathy. The absence of aortic valve or other cardiac malformations appears to markedly reduce the risk of aortic dissection However, aortic dissection can occur in Turner syndrome without cardiac malformations or hypertension. Individuals with Turner syndrome who are >18 years of age with an ascending aortic size index >2.5 cm/m(2) should be considered for an aortic operation to prevent aortic dissection.

  3. Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

    PubMed

    Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

    2014-04-02

    Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

  4. Generalized epilepsy in a patient with mosaic Turner syndrome: a case report

    PubMed Central

    2014-01-01

    Introduction Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic–clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. Case presentation A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic–clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. Conclusions There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies. PMID:24694237

  5. [Growth hormone treatment inTurner syndrome: data and reflections].

    PubMed

    Guedes, Alexis D; Bianco, Bianca; Callou, Emmanuela Q; Gomes, Ana Luíza; Lipay, Mônica V N; Verreschi, Ieda T N

    2008-07-01

    Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsufficiency of SHOX gene has been related as main factor on final height of these patients. Despite the majority of the patients are not growth hormone deficient, the GHr therapy improves the final height. Recently, a great number of publications have described the association between GH and cancer. The cancer risk, in these patients, is mainly associated with the presence of Y chromosome sequences that can lead to the gonadoblastoma development. In conclusion, the GHr therapy in ST patients deserves caution. The investigation of Y chromosome sequences should be performed as well as the prophylactic gonadectomy in the positive cases conferring confidence to the treatment.

  6. [Parsonage-Turner syndrome in childhood and adolescence: case report].

    PubMed

    Pérez-de la Cruza, Sagrario

    2012-10-01

    We present the case of a 17-year-old male whose diagnosis is Parsonage-Turner syndrome relapsing in the right arm. In his medical record, he was diagnosed as having amyotrophic neuralgia of the upper limb in three previous occasions. The diagnosis was similar in all episodes, although the affected upper limb was alternating. He was treated in the Rehabilitation Services of two hospitals. At physical examination, in every relapse, he showed acute pain in both, shoulder and arm, and loss of strength in the shoulder blade and the affected upper limb. The aim of his treatment combines the healing of the pain and, together with physiotherapy, fighting against muscular atrophy. The patient evolved favourably in each of the episodes. Nowadays, he does not show any symptom, and he has been discharged from the rehabilitation service.

  7. Rub epilepsy in an infant with Turner syndrome.

    PubMed

    Magara, Shin-Ichi; Kawashima, Hideshi; Kobayashi, Yu; Akasaka, Noriyuki; Yamazaki, Sawako; Tohyama, Jun

    2015-08-01

    We report a case of infantile refractory epilepsy associated with Turner syndrome (TS), showing very frequent, focal clonic seizures of the left upper extremity. Characteristically, in addition to spontaneous fits, her seizure was inducible by rubbing her left hand and forearm for a few seconds. Accordingly, she was diagnosed with a rare form of reflex epilepsy, "rub epilepsy". Neuroradiological investigation indicated the existence of cortical abnormalities, such as focal cortical dysplasia of the right parietal lobe. Patients with TS are reported to have neuroanatomical abnormalities, especially of the parietal lobe. Thus, our case may imply a causal relationship between potential cortical hyperexcitability of the parietal lobe and epilepsy in TS. This is the first reported infantile case of rub epilepsy, and more generally, reflex epilepsy associated with TS.

  8. Lymphocyte subpopulations in Chinese women with Turner syndrome.

    PubMed

    Fan, Hongye; Wang, Dandan; Zhu, Haiyan; Li, Jie; Hu, Yali; Hou, Yayi

    2012-03-01

    Turner syndrome (TS) is associated with deficiency of cellular and humoral immunity. However, the characteristics of lymphocyte subpopulations in Chinese women with TS have not been reported. In this study, the percentage of lymphocyte subpopulations and the mRNA expression of some transcription factors were determined in patients with TS. The effect of the hormone substitution on lymphocyte subpopulations was also analyzed. Thirteen Chinese TS women and eight age and sex-matched healthy volunteers were studied. The percentage and mean fluorescence intensity (MFI) of lymphocyte subpopulations including CD3+CD4+, CD3+CD8+, CD19-CD138+, CD4+CD25+FoxP3+ and CD4+CD8-IL17A+ cells were determined by flow cytometry. The mRNA expression of some transcription factors were detected by RT-PCR. Compared to control, the percentage of CD3+CD4+ cells was significantly reduced (p < 0.05), while the percentage of CD19-CD138+, CD4+CD25+FoxP3+ and CD4+CD8-IL17A+ cells was significantly increased in TS patients. No difference was observed in the percentage of CD3+CD8+, CD19+ B cells between TS patients and healthy volunteers, with the similar changes in the mean fluorescence intensity of these cells. The mRNA expression of some transcription factors slightly enhanced in TS patients. Estrogen therapy did not affect the percentage of lymphocyte subpopulations. These findings suggested that Turner syndrome might be associated with changes of lymphocyte subpopulations.

  9. Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

    PubMed

    Kaczorowska, Ewa; Zimowski, Janusz; Cichoń-Kotek, Monika; Mrozińska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

    Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.

  10. Evaluating the biomechanics of the pediatric foot in Turner syndrome: a case report.

    PubMed

    Morrison, Stewart C; Izod, Alexander; Mahaffey, Ryan

    2012-01-01

    Turner syndrome is a genetic disorder that can present clinically with multiple concurrent comorbidities. This case report describes a 12-year-old girl with Turner syndrome who was referred for podiatric medical assessment and explores the application of optoelectronic stereophotogrammetry in the biomechanical assessment of the foot and lower limb. A four-segment kinematic foot model using 14-mm reflective markers was applied to the foot and lower limb of the patient to track motion at the tibia, rearfoot, forefoot, and hallux. Kinematic results presented in this case study illustrate evidence of excessive foot pronation throughout the stance phase of gait. Whether excessive pronation is a general characteristic of foot function in Turner syndrome remains to be confirmed, but the findings presented suggest that a comprehensive evaluation of foot biomechanics in patients with Turner syndrome may be warranted.

  11. Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation.

    PubMed Central

    Pinto, M R; Leite, R P; Areias, A

    1989-01-01

    We describe the clinical and cytogenetic findings in an infant who presented with the features of both Turner's and DiGeorge's syndromes associated with a unique translocation between chromosomes X and 22. Images PMID:2614798

  12. [Chronic type A aortic dissection associated with Turner syndrome; report of a case].

    PubMed

    Tanaka, Hideyuki; Kozaki, Tomofumi; Kume, Masazumi; Miyamoto, Shinji

    2014-12-01

    Aortic dissection is a critical but rare complication of Turner syndrome. This report describes a case of chronic aortic dissection in a patient with Turner syndrome. A 54-year-old woman, suffering from mild back pain for 1 month, was referred to our hospital with a diagnosis of Stanford type A chronic aortic dissection and a bicuspid aortic valve with moderate regurgitation. Computed tomography revealed aortic dissection, involving all arch branches, extending from the ascending to the abdominal aorta. The true lumen of the brachial artery was nearly obstructed by the thrombosed false lumen. Elective aortic arch repair and aortic valve replacement were successfully performed. The patient was diagnosed with 45, XO Turner syndrome after surgery. Taking aortopathy of Turner syndrome into consideration, surveillance of the residual aorta was performed. No rapidly progressive dilatation of the residual aorta was detected during the 6 years' follow-up.

  13. Juvenile onset narcolepsy in an individual with Turner syndrome. A case report.

    PubMed

    George, C F; Singh, S M

    1991-06-01

    We describe an 8 year old girl who presented with excessive daytime sleepiness and frequent falling. Following extensive investigations, the diagnosis of both narcolepsy and Turner Syndrome were confirmed. To our knowledge, this is the first report of these two conditions in the same individual. Both conditions are common, but the early expression of narcolepsy is unusual. Although there is a genetic basis for each, the two conditions are not necessarily related since Turner is an X-linked abnormality, while narcolepsy has an autosomal basis. Nonetheless we wonder if the hormonal balance of Turner Syndrome might have some role to play in the early expression of narcolepsy.

  14. Prosthodontic treatment and medical considerations for a patient with Turner syndrome: a clinical report.

    PubMed

    Nguyen, Caroline T; Hofstede, Theresa M

    2012-10-01

    This clinical report describes a multidisciplinary approach in the rehabilitation of a 23-year-old Caucasian woman affected with Turner's syndrome and subsequently diagnosed with T4 Giant cell reparative granuloma of the right maxillary sinus. The surgical treatment included a maxillectomy and infratemporal fossa dissection followed by a free fibula palatal reconstruction, fibula bone graft of the orbital floor, dental implant placement, and prosthodontic rehabilitation. Prosthodontic planning and treatment considerations in an adult patient with Turner Syndrome are discussed.

  15. Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.

    PubMed

    Massingham, Lauren J; Johnson, Kirby L; Scholl, Thomas M; Slonim, Donna K; Wick, Heather C; Bianchi, Diana W

    2014-09-01

    Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to identify specific genes/organ systems that may play a role in Turner syndrome pathophysiology. Cell-free RNA from amniotic fluid of five mid-trimester Turner syndrome fetuses and five euploid female fetuses matched for gestational age was extracted, amplified, and hybridized onto Affymetrix(®) U133 Plus 2.0 arrays. Significantly differentially regulated genes were identified using paired t tests. Biological interpretation was performed using Ingenuity Pathway Analysis and BioGPS gene expression atlas. There were 470 statistically significantly differentially expressed genes identified. They were widely distributed across the genome. XIST was significantly down-regulated (p < 0.0001); SHOX was not differentially expressed. One of the most highly represented organ systems was the hematologic/immune system, distinguishing the Turner syndrome transcriptome from other aneuploidies we previously studied. Manual curation of the differentially expressed gene list identified genes of possible pathologic significance, including NFATC3, IGFBP5, and LDLR. Transcriptomic differences in the amniotic fluid of Turner syndrome fetuses are due to genome-wide dysregulation. The hematologic/immune system differences may play a role in early-onset autoimmune dysfunction. Other genes identified with possible pathologic significance are associated with cardiac and skeletal systems, which are known to be affected in females with Turner syndrome. The discovery-driven approach described here may be useful in elucidating novel mechanisms of disease in Turner syndrome.

  16. Ear health and hearing surveillance in girls and women with Turner's syndrome: recommendations from the Turner's Syndrome Support Society.

    PubMed

    Kubba, H; Smyth, A; Wong, S C; Mason, A

    2017-06-01

    Turner's syndrome (TS) is a common chromosomal disorder, affecting one in 2000 newborn girls, in which part or all of one X chromosome is missing. Ear and hearing problems are very common in girls and women with TS. The aim of this review was to review the published literature to suggest recommendations for otological health surveillance. A keyword search of Ovid Medline was performed for published literature on the subject and evidence rated according to the GRADE criteria. Middle ear disorders are very common and persistent in girls and women with TS as are progressive sensorineural hearing loss and balance disorders. Otolaryngologists should be aware of the high prevalence and challenging nature of all forms of ear disease in individuals with TS. Early intervention may offer benefits to health and education, and we advocate routine lifelong annual hearing screening in this group. © 2016 John Wiley & Sons Ltd.

  17. [Turner syndrome and monosomy 1p36 deletion syndrome misdiagnosed as thyropenia: report of one case].

    PubMed

    Meng, Xubiao; Li, Zhiming; Liu, Tingting; Wen, Zhiming

    2013-12-01

    A 21-year-old woman with a short stature presented with primary amenorrhoea and a 45X karyotype, and comparative genomic hybridization revealed 1p36 deletion and abnormal genes in multiple chromosomes to support the diagnosis of Turner syndrome and monosomy 1p36 deletion syndrome. The main clinical features of this condition include microsomia, poor sexual development, menoschesis, gigantorectum, absence of internal genitalia, sometimes with thyropenia and low intelligence. This disease can be easily diagnosed for its heterogeneous clinical manifestations.

  18. Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome.

    PubMed

    Abdalla, Ebtesam Mohamed; Nabil, Karim Mahmoud

    2012-06-01

    To report the presence of Axenfeld-Rieger spectrum in a case of 45,X Turner syndrome. Non-interventional case report. A 13-year-old girl underwent complete genetic clinical evaluation comprising detailed family history taking with pedigree construction in addition to a thorough clinical examination and a number of investigations. A cytogenetic study, molecular testing for hidden Y-chromosome material, and a full ophthalmological assessment including slit lamp examination were also performed. Physical examination revealed typical features of Turner syndrome: short stature, webbing of the neck with low posterior hairline, widely spaced nipples and lack of development of secondary sexual characteristics. Abdominal and pelvic ultrasound showed a horse-shoe kidney with double ureter, a hypoplastic uterus and bilateral streak ovaries. Mitral regurgitation was diagnosed on echocardiography. Chromosomal analysis revealed a 45,X Turner syndrome karyotype while the molecular study failed to demonstrate any occult Y chromosome derivative. The ophthalmological assessment revealed sclerocornea and Axenfeld anomaly with synechia. Few reported cases in the literature describe the coexistence of Axenfeld-Rieger spectrum and Turner syndrome. Our study adds to the evidence that ocular problems occur frequently in Turner syndrome. A routine ophthalmologic examination is recommended early in Turner syndrome to diagnose and treat confirmed abnormalities. Conversely, general examination and chromosomal analysis should be indicated in patients presenting with anterior chamber dysgenesis.

  19. Squamous cell carcinoma of the vulva in a virgin patient with Turner syndrome.

    PubMed

    Tapisiz, Omer Lutfi; Topcu, Onur; Gungor, Tayfun; Ozdal, Bulent; Sirvan, Levent; Yesilyurt, Ahmet

    2011-09-01

    Two types of gynecologic tumors are commonly described in the Turner syndrome, the first one is gonadoblastoma, which occurs in patients with Y chromosome abnormalities, and the second one is endometrial carcinoma which is mostly related with exogenous estrogen usage. Here, we describe an extremely rare case of squamous cell carcinoma of the vulva in a virgin woman with Turner syndrome. A 35-years old single, virgin woman referred to our Oncology Department with warty, necrotized, exophytic 6-7 cm vulvar mass. She had a history of primary amenorrhea and mosaic Turner syndrome was determined in her karyotype analysis. Biopsy specimen of the vulvar mass revealed squamous cell carcinoma of the vulva, and total vulvectomy with inguinal femoral lymphadenectomy was performed. The postoperative course was uneventful and there has been no recurrence of the disease up to date. Women with Turner syndrome have streak ovaries that produce very low estrogen and the squamous cell carcinoma of the vulva may have developed at an early age with Turner syndrome because of this low estrogen value similar to postmenopausal women. The current case is a special case due to its age of occurrence, virgin and Turner syndrome status.

  20. Type 1 diabetes mellitus in a 3 1/2 year-old girl with Turner's syndrome.

    PubMed

    Gonc, E Nazli; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun

    2002-01-01

    Turner's syndrome is associated with autoimmune disorders. Autoimmune endocrinopathy in Turner's syndrome seems to be limited to autoimmune thyroiditis. A small number of patients with Turner's syndrome has also been associated with celiac disease, inflammatory bowel disease and juvenile rheumatoid arthritis. Type 1 diabetes mellitus in Turner's syndrome has been rarely reported. We present here the youngest patient with Turner's syndrome who developed type 1 diabetes mellitus. At the age of 3.5 years she was hospitalized with diabetic ketoacidosis. Anti-islet cell and anti-insulin antibodies were positive and C-peptide level was low. When she was investigated for recurrent urinary tract infections, horseshoe kidney was detected by ultrasonography. Karyotype analysis revealed 45,XO. She has been followed for 2 years with an insulin dose of 0.9 U/kg per day. The prevalence of type 1 diabetes mellitus associated with Turner's syndrome is still unknown.

  1. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

    PubMed

    Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

    2011-05-01

    Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

  2. Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.

    PubMed

    De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine

    2015-07-01

    Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

  3. Parsonage-Turner syndrome following post-exposure prophylaxis

    PubMed Central

    2014-01-01

    Background The ‘Parsonage-Turner syndrome’ (PTS) is a rare but distinct disorder with an abrupt onset of shoulder pain, followed by weakness and atrophy of the upper extremity musculature, and a slow recovery requiring months to years. To our best knowledge, this is the first case describing symptoms and signs of PTS following the administration of a post-exposure prophylaxis (PEP) regimen against possible human immunodeficiency virus (HIV) and hepatitis B virus (HBV) infection. Case presentation A 25-year-old Caucasian man presented with pain and unilateral scapular winging following PEP against possible HIV and HBV infection. Although atrophy and weakness were observed for the right supraspinatus muscle, a full range of motion was achievable. Neurological examination, plain radiography of the right shoulder and electromyography showed no additional abnormalities. The patient was diagnosed with post-vaccination PTS and treated non-operatively. During the following 15 months the scapular winging receded and full muscle strength was regained. Conclusion Parsonage-Turner syndrome is a rare clinical diagnosis. The precise pathophysiological mechanism of PTS remains unclear, but it seems to involve an interaction between genetic predisposition, mechanical vulnerability and an autoimmune trigger. An immunological event, such as – in this case – a vaccination as part of PEP treatment, can trigger the onset of PTS. The clinical presentation is distinctive with acute severe pain followed by patchy paresis, atrophy and sensory symptoms that persist for months to years. No currently available tests can provide a definite confirmation or exclusion of PTS. Routine blood examination, electromyography (EMG), and computed tomography (CT) or magnetic resonance imaging (MRI) serve mainly to exclude other disorders. The recovery can be quite lengthy, non-operative treatment is the accepted practice. Supplementary administration of oral prednisolone could shorten the

  4. Impaired endothelial function in pediatric patients with turner syndrome and healthy controls: a case-control study.

    PubMed

    O'Gorman, Clodagh S; Syme, Catriona; Bradley, Tim; Hamilton, Jill; Mahmud, Farid H

    2012-04-02

    Turner Syndrome women are at high risk of vascular disease and the assessment of early risk factors in Turner Syndrome girls is an emerging focus of research. Our objective was to evaluate endothelial function (EF), a preclinical measure of atherosclerosis, in Turner Syndrome girls compared with controls. A cross-sectional case-control study of Turner Syndrome girls and healthy controls. Subjects underwent fasting insulin and glucose with calculation of HOMA-IR, fasting lipid profile, anthropometrics, and EF testing using peripheral arterial tonometry (PAT). Subjects, aged 10-18 years, had karyotype-confirmed Turner Syndrome; growth hormone (GH), thyroxine and estrogen use were not exclusion criteria. Controls were age- and BMI-matched healthy girls. Fifteen Turner Syndrome and 15 controls were recruited. Turner Syndrome girls had lower height, higher HDL and higher waist:height ratio than controls. PAT-hyperemia ratio (RH-PAT) scores were lower in Turner Syndrome (1.64 ± 0.34 vs. 2.08 ± 0.32, p = 0.002) indicating impaired EF. Among Turner Syndrome, RH-PAT did not vary with estrogen therapy or with karyotype 45,XO compared with other karyotypes. However, endothelial function was better in GH-treated compared with GH-untreated Turner Syndrome (1.80 ± 0.36 vs. 1.4 + 0.22, p = 0.02) although there were no differences in HOMA-IR, adiponectin or IGF-1. Girls with Turner Syndrome exhibit impaired endothelial function compared with controls, which may explain higher risk for vascular disease. GH may protect endothelial function in Turner Syndrome.

  5. Plasma exchange in Goodpasture syndrome associated with Turner's syndrome: A case report.

    PubMed

    Jiao, L P; Fan, J F; Sun, Q; Shen, Y

    2012-12-01

    Good pasture syndrome (GPS) has been paid much attention recently for the dangerous illness and high mortality. To investigate the efficiency of plasma exchange (PE) to treat Goodpasture syndrome (GPS) in children associated with Turner's syndrome. We report a case of a 15 year old female with GPS and Turner's syndrome. The patient has intermittent fever and cough for 45 days and oliguria for 6 days. Turner's syndrome was determined through blood karyotype analysis, and GPS was diagnosed because the patient was negative for antinuclear antibodies and antineutrophil cytoplasmic antibodies (ANCA), but positive for anti-glomerular basement membrane (anti-GBM) antibodies (200 RU/ml). PE was carried out in combination with immunosuppression therapy. The results show PE treatment can efficiently decrease the levels of anti-GBM antibodies. The antibody levels were >200 RU/ml and 184 RU/ml before and after the first PE treatment, respectively. The removal efficiency were 40%, 47%, 42%, 54%, 52% for the fifth, sixth, seventh, eighth and ninth PE procedures, respectively. The therapy with PE, hemodialysis, pulse methylprednisolone followed by oral prednisone and cyclophosphamide greatly contributed to improvement of this patient's condition, and resolved the patient's pulmonary haemorrhage. All these results demonstrate that PE contributed efficiently to the treatment for GPS in children.

  6. Expanding the differential of shoulder pain: Parsonage-Turner syndrome.

    PubMed

    Schreiber, Adam L; Abramov, Ronnen; Fried, Guy W; Herbison, Gerald J

    2009-08-01

    A 44-year-old man was in his car when it was rear-ended in a minor motor vehicle collision, during which his right forearm contacted the steering wheel. Shortly thereafter, pain in his right shoulder developed, but initial work-up was unremarkable. His pain progressed to shoulder girdle weakness over several months and did not improve after 2.5 years. At the time of consultation, he complained of right-sided neck pain radiating to the right deltoid muscle and axilla as well as right shoulder blade pain with shoulder girdle weakness. Repeated electrodiagnostic studies revealed denervation limited to the serratus anterior and right deltoid muscles without evidence of cervical radiculopathy. He was diagnosed with Parsonage-Turner syndrome, which is a neurologic condition characterized by acute onset of shoulder and arm pain followed by weakness and sensory disturbance. The authors review patient presentation, physical examination, and work-up needed for diagnosis of this syndrome to help physicians avoid administering unnecessary tests and treatment.

  7. A Case of Turner Syndrome with Multiple Embolic Infarcts

    PubMed Central

    Yoon, Cindy W.; Lee, Eungseok; Yoon, Byung-Nam; Park, Hee-Kwon; Rha, Joung-Ho

    2016-01-01

    Only a few cases of Turner syndrome (TS) with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI) findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports. PMID:27790125

  8. A Case of Turner Syndrome with Multiple Embolic Infarcts.

    PubMed

    Yoon, Cindy W; Lee, Eungseok; Yoon, Byung-Nam; Park, Hee-Kwon; Rha, Joung-Ho

    2016-01-01

    Only a few cases of Turner syndrome (TS) with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI) findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports.

  9. Mathematics Learning Disabilities in Girls with Fragile X or Turner Syndrome during Late Elementary School

    ERIC Educational Resources Information Center

    Murphy, Melissa M.; Mazzocco, Michele M. M.

    2008-01-01

    The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner…

  10. Mathematics Learning Disabilities in Girls with Fragile X or Turner Syndrome during Late Elementary School

    ERIC Educational Resources Information Center

    Murphy, Melissa M.; Mazzocco, Michele M. M.

    2008-01-01

    The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner…

  11. New insights on diabetes in Turner syndrome: results from an observational study in adulthood.

    PubMed

    Ibarra-Gasparini, Daniela; Altieri, Paola; Scarano, Emanuela; Perri, Annamaria; Morselli-Labate, Antonio M; Pagotto, Uberto; Mazzanti, Laura; Pasquali, Renato; Gambineri, Alessandra

    2017-06-07

    To explore the characteristics of diabetes mellitus in adults with Turner syndrome. Observational study consisting of a prospective phase after the access of adults with Turner syndrome to the Endocrinology Unit (median period of follow-up 15.6, interquartile range: 12.0-24.5 months) and a retrospective collection of data from the diagnosis of Turner syndrome until the time of access to the Endocrinology Unit. A total of 113 Italian Turner syndrome patients were included in the study. During the prospective phase of the study, each patient underwent physical examination, fasting blood sampling, and an oral glucose tolerance test on a yearly basis. Oral glucose tolerance test was used to perform the diagnosis of diabetes mellitus. Before access to the Endocrinology Unit, diabetes mellitus was diagnosed in two Turner syndrome patients. Another five cases of diabetes mellitus were diagnosed at the first access to the Endocrinology Unit, whereas seven new cases of diabetes mellitus were diagnosed during the prospective phase of the study. At the diagnosis of diabetes mellitus, only one patient had fasting glucose above 126 mg/dL, and only two had an HbA1c value >6.5% (48 mmol/mol). When compared to normo-glucose tolerant patients, the diabetic patients had a significantly lower insulin-to-glucose ratio at 30 and 60 min of the oral glucose tolerance test. In the regression analyses, only age was associated with the development of diabetes mellitus. This study confirms that diabetes mellitus is frequent in Turner syndrome and suggests that it is specific to the syndrome. In addition, this study demonstrates that oral glucose tolerance test is a more sensitive test than HbA1c for the diagnosis of diabetes mellitus in Turner syndrome.

  12. Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.

    PubMed

    Kwon, Ahreum; Hyun, Sei Eun; Jung, Mo Kyung; Chae, Hyun Wook; Lee, Woo Jung; Kim, Tae Hyuk; Kim, Duk Hee; Kim, Ho-Seong

    2017-03-27

    Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is suggested to be a risk factor for gonadoblastoma in patients with Turner syndrome. Here, we aimed to estimate the frequency of cryptic Y chromosome material in patients with Turner syndrome and determine whether Y chromosome material increased the risk for development of gonadoblastoma. A total of 124 patients who were diagnosed with Turner syndrome by conventional cytogenetic techniques underwent additional molecular analysis to detect cryptic Y chromosome material. In addition, patients with Turner syndrome harboring Y chromosome cell lines had their ovaries removed prophylactically. Finally, we assessed the occurrence of gonadoblastoma in patients with Turner syndrome. Molecular analysis demonstrated that 10 patients had Y chromosome material among 118 patients without overt Y chromosome (8.5%). Six patients with overt Y chromosome and four patients with cryptic Y chromosome material underwent oophorectomy. Histopathological analysis revealed that the occurrence of gonadoblastoma in the total group was 2.4%, and gonadoblastoma occurred in one of six patients with an overt Y chromosome (16.7%) and 2 of 10 patients with cryptic Y chromosome material (20.0%). The risk of developing gonadoblastoma in patients with cryptic Y chromosome material was similar to that in patients with overt Y chromosome. Therefore, molecular screening for Y chromosome material should be recommended for all patients with Turner syndrome to detect individuals at a high risk of gonadoblastoma and to facilitate proper management of the disease.

  13. Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

    PubMed

    Trolle, Christian; Mortensen, Kristian H; Pedersen, Lisbeth N; Berglund, Agnethe; Jensen, Henrik K; Andersen, Niels H; Gravholt, Claus H

    2013-01-01

    QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc) over time and relate the findings to the Turner syndrome phenotype. Adult women with Turner syndrome (n = 88) were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%), and adjusted for influence of heart rate by Bazett's (bQTc) and Hodges's formula (hQTc). The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms) compared to controls (390.4 ± 17.8 ms) was prolonged (p<0.001) and did not change over time (416.9 ± 22.6 vs. 415.6 ± 25.5 ms; p =0.4). 45,X karyotype was associated with increased hQTc prolongation compared to other Turner syndrome karyotypes (418.2 ± 24.8 vs. 407.6 ± 25.5 ms; p = 0.055). In women with Turner syndrome and a bQTc >432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2). There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women. NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

  14. Turner syndrome--issues to consider for transition to adulthood.

    PubMed

    Lucaccioni, Laura; Wong, Sze Choong; Smyth, Arlene; Lyall, Helen; Dominiczak, Anna; Ahmed, S Faisal; Mason, Avril

    2015-03-01

    Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed. Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy. The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  15. Turner syndrome: don't forget the vulva

    PubMed Central

    Haidopoulos, Dimitrios; Bakolas, George

    2016-01-01

    Summary Turner syndrome (TS) has been linked to a number of autoimmune conditions, including lichen sclerosus (LS), at an estimated prevalence of 17%. LS is a known precursor to vulvar cancer. We present a case of vulvar cancer in a 44-year-old woman, who had previously complained of pruritus in the area, a known symptom of LS. Histology confirmed a squamous cell carcinoma with underlying LS. Vulvar assessment for the presence of LS should be undertaken regularly as part of the routine assessments proposed for adult TS women. If LS is identified, then the patient should be warned of the increased risk of vulvar cancer progression and should be monitored closely for signs of the condition. Learning points Patients with TS are at increased risk of developing LS.LS is a known precursor to vulvar cancer.TS women with LS may be at risk of developing vulvar cancer and should be offered annual vulvar screening and also be aware of signs and symptoms of early vulvar cancer. PMID:27252865

  16. Feasibility of fertility preservation in young females with Turner syndrome.

    PubMed

    Lau, Nga Man; Huang, Jack Yu Jen; MacDonald, Suzanne; Elizur, Shai; Gidoni, Yariv; Holzer, Hananel; Chian, Ri-Cheng; Tulandi, Togas; Tan, Seang Lin

    2009-02-01

    Women with Turner syndrome (TS) are at risk of premature ovarian failure. The objective of this retrospective study was to identify patients with TS who could be potential candidates for fertility preservation and to determine their present reproductive and fertility status. Criteria for fertility preservation included: (i) spontaneous menarche; (ii) confirmation by ultrasound examination of the presence of at least one normal ovary; and (iii) serum FSH concentrations below 40 IU/l. Using the Montreal Children's Hospital Cytogenetic Database from 1990 to 2006, 28 patients with complete or partial absence of one X chromosome were identified: 13 (46%) were 45,X; nine (32%) had mosaic karyotypes; and six (21%) had karyotypes containing isochromosome or ring X chromosome. Six patients (21%) had spontaneous pubertal development and four (14%) were identified as potential candidates for fertility preservation. One underwent an ovarian stimulation protocol of gonadotrophin-releasing hormone agonist down-regulation followed by recombinant FSH and human menopausal gonadotrophin stimulation. Two metaphase-II-stage oocytes were aspirated and vitrified using the McGill Cryoleaf vitrification system. Another patient conceived spontaneously at the age of 24 years. In conclusion, fertility preservation may not be feasible for most patients with TS. However, after careful consideration of increased pregnancy-associated risks, fertility preservation may be offered to young females with mosaic TS.

  17. Concomitant occurrence of Turner syndrome and growth hormone deficiency.

    PubMed

    Yu, Jung; Shin, Ha Young; Lee, Chong Guk; Kim, Jae Hyun

    2016-11-01

    Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

  18. Concomitant occurrence of Turner syndrome and growth hormone deficiency

    PubMed Central

    Yu, Jung; Shin, Ha Young; Lee, Chong Guk

    2016-01-01

    Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis. PMID:28018463

  19. Deletions of Yq11 associated with short stature and the Turner syndrome. Tentative mapping of a region associated with specific Turner stigmata to proximal interval 5.

    SciTech Connect

    McElreavey, K.; Barbaux, S.; Vilain, E.

    1994-09-01

    Turner syndrome is a complex human phenotype, commonly associated with a 45,X karyotype. Mapping the Turner phenotype is difficult since hidden mosaicisms, partial monosomy and complex rearrangements are present in many affected individuals. In addition, attempts to map the genes involved to the X chromosome have failed to yield a consistent localisation. An alternative approach to map and identify Turner genes is to study XY individuals, with sex chromosome abnormalities, who present with or without characteristic Turner stigmata. We report the analysis of 4 individuals with terminal deletions of Yq. The individuals were azoospermic males without phenotypic abnormalities (2 cases) and azoospermic males presenting with a specific subset of Turner stigmata (2 cases). Breakpoints in each of the cytogenetically detectable Yq deletions were mapped by Southern analysis and Y chromosome-specific sequence tagged sites (STS). Correlation between the patients phenotypes and the extent of their deletion indicate a critical region associated with specific Turner stigmata (cubitus valgus, shield chest, short fourth metacarpals) and growth retardation at Yq at proximal interval 5. These data provide evidence that the somatic features of the Turner syndrome are most likely caused by haploinsufficiency of genes at several loci.

  20. [Down-Turner syndrome (45,X/47,XY,+21): case report and review].

    PubMed

    Ryu, Sook Won; Lee, Goeun; Baik, Cheong Soon; Shim, Sung Han; Kim, Jin Tack; Lee, Jung Soo; Lee, Kyung A

    2010-04-01

    We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy.

  1. The overlap syndromes of autoimmune hepatitis.

    PubMed

    Czaja, Albert J

    2013-02-01

    Autoimmune hepatitis has two major variant phenotypes in which the features of classical disease are co-mingled with those of primary biliary cirrhosis or primary sclerosing cholangitis. These overlap syndromes lack codified diagnostic criteria, established pathogenic mechanisms, and confident management strategies. Their clinical importance relates mainly to the identification of patients who respond poorly to conventional corticosteroid treatment. Scoring systems that lack discriminative power have been used in their definition, and a clinical phenotype based on pre-defined laboratory and histological findings has not been promulgated. The frequency of overlap with primary biliary cirrhosis is 7-13 %, and the frequency of overlap with primary sclerosing cholangitis is 8-17 %. Patients with autoimmune hepatitis and features of cholestatic disease must be distinguished from patients with cholestatic disease and features of autoimmune hepatitis. Variants of the overlap syndromes include patients with small duct primary sclerosing cholangitis, antimitochondrial antibody-negative primary biliary cirrhosis, autoimmune sclerosing cholangitis, and immunoglobulin G4-associated disease. Conventional corticosteroid therapy alone or in conjunction with ursodeoxycholic acid (13-15 mg/kg daily) has been variably effective, and cyclosporine, mycophenolate mofetil, and budesonide have been beneficial in selected patients. The key cholestatic features that influence the prognosis of autoimmune hepatitis must be defined and incorporated into the definition of the syndrome rather than rely on designations that imply the co-mingling of different diseases with manifestations of variable clinical relevance. The overlap syndromes in autoimmune hepatitis are imprecise, heterogeneous, and unfounded, but they constitute a clinical reality that must be accepted, diagnosed, refined, treated, and studied.

  2. [Genetic analysis of Turner syndrome: 89 cases in Tunisia].

    PubMed

    Kammoun, I; Chaabouni, M; Trabelsi, M; Ouertani, I; Kraoua, L; Chelly, I; M'rad, R; Ben Jemaa, L; Maâzoul, F; Chaabouni, H

    2008-11-01

    Turner's syndrome (TS) affects about 1/2500 female infants born alive. The syndrome results from total or partial absence of one of the two X chromosomes normally present in females. We report the results of a retrospective analysis of 89 cases of TS observed during a six-year period (2000-2005). The patients' age ranged from two days to 51 years at the time of this analysis. Most patients were adults (48%). The aim of this study is to ascertain the principal clinical features leading to a request for a karyotype, searching for a possible relationship between chromosomal anomalies and clinical expression of TS. Pediatric patients were referred for statural retardation or dysmorphic features, while reproduction anomalies were the main indication for karyotyping in patients aged over 20 years. Mosaicism was prevalent (47%), whereas the homogeneous karyotype 45,X was found in only 32% of the patients; structural anomalies were found in 21%. Regarding the advanced age of our patients, we established a relationship between chromosome anomalies and the clinical expression of TS, based on an analysis of stature and reproduction disorders. Short stature and primary amenorrhea were correlated with total deletion of one chromosome X or imbalanced gene dosage due to structural X anomalies. Whereas cases of infertility, recurrent miscarriages and secondary amenorrhea were associated with a mosaic karyotype pattern (45,X/46,XX or 45,X/46,XX/47,XXX ...), with a slight mosaicism in most cases. Thus, chromosome investigations should be performed in cases of reproduction failure even for women with normal stature.

  3. Horseshoe kidney with growth retardation: Don't forget Turner syndrome.

    PubMed

    Arslansoyu-Çamlar, Seçil; Soylu, Alper; Abacı, Ayhan; Türkmen, Mehmet Atilla; Ülgenalp, Ayfer; Kavukçu, Salih

    2016-01-01

    Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome.

  4. Gonadal dysgenesis, Turner syndrome with 46,XX,del(18p)3

    SciTech Connect

    Telvi, L.; Ion, R.; Bernheim, A.

    1994-09-01

    The authors report a case of a female infant with gonadal dysgenesis, clinical features of Turner syndrome and a de novo del(18p). The factors controlling gonadal dysgenesis and Turner syndrome are unknown to date. The genes involved could be located not only on X chromosome but also on autosomes. The present case suggests that one of these genes is situated on the short arm of chromosome 18. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.

  5. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.

    PubMed

    Prakash, Siddharth; Guo, Dongchuan; Maslen, Cheryl L; Silberbach, Michael; Milewicz, Dianna; Bondy, Carolyn A

    2014-01-01

    Turner syndrome is a developmental disorder caused by partial or complete monosomy for the X chromosome in 1 in 2,500 females. We hypothesized that single-nucleotide polymorphism (SNP) array genotyping could provide superior resolution in comparison to metaphase karyotype analysis to facilitate genotype-phenotype correlations. We genotyped 187 Turner syndrome patients with 733,000 SNP marker arrays. All cases met diagnostic criteria for Turner syndrome based on karyotypes (60%) or characteristic physical features. The SNP array results confirmed the diagnosis of Turner syndrome in 100% of cases. We identified a single X chromosome (45,X) in 113 cases. In 58 additional cases (31%), other mosaic cell lines were present, including isochromosomes (16%), rings (5%), and Xp deletions (8%). The remaining cases were mosaic for monosomy X and normal male or female cell lines. Array-based models of X chromosome structure were compatible with karyotypes in 104 of 116 comparable cases (90%). We found that the SNP array data did not detect X-autosome translocations (three cases) but did identify two derivative Y chromosomes and 13 large copy-number variants that were not detected by karyotyping. Our study is the first systematic comparison between the two methods and supports the utility of SNP array genotyping to address clinical and research questions in Turner syndrome.

  6. Turner syndrome: advances in understanding altered cognition, brain structure and function.

    PubMed

    Knickmeyer, Rebecca C

    2012-04-01

    Turner syndrome, which results from the complete or partial loss of a sex chromosome, is associated with a particular pattern of cognitive impairments and strengths and an increased risk for specific neurodevelopmental disorders. This review highlights recent progress in understanding brain structure and function in Turner syndrome and identifies several critical research needs. Recent work on social cognition in Turner syndrome has identified a range of difficulties despite a maintained social appetite, a disconnect which could result in distress for affected individuals. Progress has been made in identifying foundational deficits in attention and executive function that could explain visual-spatial and arithmetical impairments. Neuroimaging studies have advanced our understanding of brain development and function through the application of cutting edge analysis techniques. Haploinsufficiency of genes, failure to express parentally imprinted genes, uncovering of X chromosome mutations, and gonadal steroid deficiency may all contribute to altered brain development, but additional work is required to link specific mechanisms to specific phenotypes. Also needed are studies of interventions to assist individuals with Turner syndrome in visual-spatial, mathematical, and social skills. Ultimately a better understanding of brain structure and function in Turner syndrome will generate new therapeutic approaches for this population.

  7. Endometrial adenocarcinoma arising in a Turner's syndrome patient with spontaneous menstruation: a case report.

    PubMed

    Sasamoto, Naoko; Ueda, Yutaka; Amemiya, Kyoka; Enomoto, Takayuki; Morii, Eiichi; Adachi, Kazushige

    2014-01-01

    Women with Turner's syndrome exhibit anovulation, and the majority do not spontaneously menstruate. We present an unusual case of endometrial adenocarcinoma developing in a Turner's syndrome patient who was exhibiting spontaneous menstruation while not receiving regular hormone therapy. The patient's karyotype from blood lymphocytes was a mosaic of 45,XO/ 46,XX. Menarche and sexual development were normal. Her menstrual cycle had been regular for one year, but then became noticeably irregular. At age 26 she was referred to our hospital after bleeding for almost 1 year. An endometrial adenocarcinoma was detected during performance of diagnostic endometrial curettage. A total abdominal hysterectomy with bilateral salpingo-oophorectomy and pelvic lymphadenectomy was conducted. The final histological diagnosis was endometrial adenocarcinoma, Grade 1, pT1a N0 M0. Fluorescence in situ hybridization analysis of the right and left ovaries revealed a mosaic karyotype of 45,XO/ CONCLUSION: Previous reports regarding Turner's syndrome detected spontaneous menstruation in only 16% of patients; however, spontaneous menstruation was observed in 8 of 10 (80%) Turner's syndrome cases that developed endometrial carcinoma without receiving regular hormone therapy (p < 0.0001). Hormone therapy may be indicated for an irregular menstrual cycle in Turner's syndrome patients.

  8. Evaluation of cardiovascular anomalies in patients with asymptomatic turner syndrome using multidetector computed tomography.

    PubMed

    Lee, Sun Hee; Jung, Ji Mi; Song, Min Seob; Choi, Seok jin; Chung, Woo Yeong

    2013-08-01

    Turner syndrome is well known to be associated with significant cardiovascular abnormalities. This paper studied the incidence of cardiovascular abnormalities in asymptomatic adolescent patients with Turner syndrome using multidetector computed tomography (MDCT) instead of echocardiography. Twenty subjects diagnosed with Turner syndrome who had no cardiac symptoms were included. Blood pressure and electrocardiography (ECG) was checked. Cardiovascular abnormalities were checked by MDCT. According to the ECG results, 11 had a prolonged QTc interval, 5 had a posterior fascicular block, 3 had a ventricular conduction disorder. MDCT revealed vascular abnormalities in 13 patients (65%). Three patients had an aberrant right subclavian artery, 2 had dilatation of left subclavian artery, and others had an aortic root dilatation, aortic diverticulum, and abnormal left vertebral artery. As for venous abnormalities, 3 patients had partial anomalous pulmonary venous return and 2 had a persistent left superior vena cava. This study found cardiovascular abnormalities in 65% of asymptomatic Turner syndrome patients using MDCT. Even though, there are no cardiac symptoms in Turner syndrome patients, a complete evaluation of the heart with echocardiography or MDCT at transition period to adults must be performed.

  9. Empathy, autistic traits, and motor resonance in adults with Turner syndrome.

    PubMed

    Lepage, Jean-François; Lortie, Mélissa; Deal, Cheri L; Théoret, Hugo

    2014-01-01

    Turner syndrome is a genetic condition resulting from the partial or complete absence of an X-chromosome in phenotypic females. Individuals with Turner syndrome often display social difficulties that are reminiscent of those associated with autistic spectrum disorders (ASD), conditions associated with empathy and mirror-neuron system (MNS) deficits. The goal of the present study was (1) to investigate the extent to which adults with Turner syndrome display autistic and empathic traits, and (2) to probe the integrity of the MNS in this neurogenetic disorder. Sixteen individuals with Turner syndrome and 16 age-, sex-, and IQ-matched controls took part in a neuropsychological assessment where the Weschler Abbreviated Scale of Intelligence, the Autism Spectrum Quotient and the Empathy Quotient were administered. Functioning of the MNS was assessed by measuring motor cortex activity with transcranial magnetic stimulation during an action-observation task. Results show that individuals with Turner syndrome do not differ significantly from controls regarding autistic or empathic traits, and present normal functioning of the MNS during action observation. Correlational analysis showed a significant positive relationship between scores on the Empathy Quotient and motor facilitation during action observation, bringing further support to the hypothesis that MNS activity is related to sociocognitive competence.

  10. Behavioral Assessment of Social Anxiety in Females with Turner or Fragile X Syndrome.

    ERIC Educational Resources Information Center

    Lesniak-Karpiak, Katarzyna; Mazzocco, Michele M. M.; Ross, Judith L.

    2003-01-01

    This study compared 29 females with Turner syndrome and 21 females with fragile X syndrome (ages 6-22) on a videotaped role-play interaction with 34 females in a comparison group. Three of eight behavioral measures of social skills differentiated the participant groups. Fragile-X subjects required more time to initiate interactions and Turner…

  11. Behavioral Assessment of Social Anxiety in Females with Turner or Fragile X Syndrome.

    ERIC Educational Resources Information Center

    Lesniak-Karpiak, Katarzyna; Mazzocco, Michele M. M.; Ross, Judith L.

    2003-01-01

    This study compared 29 females with Turner syndrome and 21 females with fragile X syndrome (ages 6-22) on a videotaped role-play interaction with 34 females in a comparison group. Three of eight behavioral measures of social skills differentiated the participant groups. Fragile-X subjects required more time to initiate interactions and Turner…

  12. Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.

    PubMed

    Manjila, Sunil; Miller, Benjamin R; Rao-Frisch, Anitha; Otvos, Balint; Mitchell, Anna; Bambakidis, Nicholas C; De Georgia, Michael A

    2014-01-01

    Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism.

  13. Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene

    PubMed Central

    Jung, Jae Yeop; Yang, Sohyoung; Jeong, Eun-Hwan; Lee, Ho-Chang; Lee, Yong-Moon; Han, Heon-Seok

    2015-01-01

    Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal. PMID:26817010

  14. Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene.

    PubMed

    Jung, Jae Yeop; Yang, Sohyoung; Jeong, Eun-Hwan; Lee, Ho-Chang; Lee, Yong-Moon; Han, Heon-Seok; Yi, Kyung Hee

    2015-12-01

    Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal.

  15. Atypical Functional Brain Activation during a Multiple Object Tracking Task in Girls with Turner Syndrome: Neurocorrelates of Reduced Spatiotemporal Resolution

    ERIC Educational Resources Information Center

    Beaton, Elliott A.; Stoddard, Joel; Lai, Song; Lackey, John; Shi, Jianrong; Ross, Judith L.; Simon, Tony J.

    2010-01-01

    Turner syndrome is associated with spatial and numerical cognitive impairments. We hypothesized that these nonverbal cognitive impairments result from limits in spatial and temporal processing, particularly as it affects attention. To examine spatiotemporal attention in girls with Turner syndrome versus typically developing controls, we used a…

  16. Pregnancies at a late reproductive age in a patient with Turner's syndrome: case report and review of the literature.

    PubMed

    Kulkarni, Aparna; Wardle, Peter

    2006-01-01

    Women with Turner's syndrome are usually sterile. It is unusual for women with Turner's syndrome to give birth after the age of 34 and those who proceed with pregnancy are at a higher risk of having spontaneous miscarriage and chromosomally malformed children necessitating genetic counselling.

  17. Atypical Functional Brain Activation during a Multiple Object Tracking Task in Girls with Turner Syndrome: Neurocorrelates of Reduced Spatiotemporal Resolution

    ERIC Educational Resources Information Center

    Beaton, Elliott A.; Stoddard, Joel; Lai, Song; Lackey, John; Shi, Jianrong; Ross, Judith L.; Simon, Tony J.

    2010-01-01

    Turner syndrome is associated with spatial and numerical cognitive impairments. We hypothesized that these nonverbal cognitive impairments result from limits in spatial and temporal processing, particularly as it affects attention. To examine spatiotemporal attention in girls with Turner syndrome versus typically developing controls, we used a…

  18. Management of Klippel-Feil syndrome combined with Turner syndrome: a case report.

    PubMed

    Park, Jae Hyun; Tai, Kiyoshi; Sato, Yasumori

    2013-01-01

    A 12-year-old female with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP) was presented. The patient reportedly had TS and had received growth hormone (GH) therapy. Because of her skeletal Class III pattern with a steep mandibular plane angle, facial asymmetry, and fused cervical vertebrae, the effects of the GH on her craniofacial complex needed to be considered at the start of orthopedic/orthodontic treatment. To manage submucous CP with severe maxillary deficiency, a rigid external distraction (RED) device was used. The total active treatment time was 34 months including distraction osteogenesis (DO). Treatment improved both her occlusion and facial appearance.

  19. Imaging of autoimmune hepatitis and overlap syndromes.

    PubMed

    Malik, Neera; Venkatesh, Sudhakar K

    2017-01-01

    Autoimmune hepatitis (AIH) is an uncommon, chronic inflammatory, and relapsing liver disease of unknown origin that may lead to liver cirrhosis, hepatocellular carcinoma, liver transplantation, or death. AIH occurs in all age groups and races but can frequently manifest as acute fulminant hepatitis. Clinical presentation of AIH can have features similar to primary sclerosing cholangitis (PSC) and primary biliary cirrhosis (PBC), and these diseases may coexist leading to overlap syndromes. Although histological diagnosis is necessary, imaging features often can demonstrate characteristics that may be helpful to distinguish these diseases. Imaging features of AIH are those of chronic liver disease, and imaging plays important role in detection of complications and ruling out other possible causes of chronic liver disease. Emerging techniques such as elastography provide non-invasive options for diagnosis of significant fibrosis and cirrhosis during clinical follow-up as well as assessment of response to treatment. In this study, we will describe imaging findings in AIH and overlap syndromes.

  20. Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome.

    PubMed

    Onalan, Gogsen; Yilmaz, Zerrin; Durak, Tulay; Sahin, Feride Iffet; Zeyneloglu, Hulusi Bulent

    2011-04-01

    To determine the efficacy of the preimplantation cytogenetic analysis of the embryos obtained from patient with mosaic Turner syndrome before an IVF program. Prospective cytogenetic analysis. University-based tertiary medical center. A 29 year-old female, a partner in a couple with male factor infertility, was diagnosed with mosaic Turner syndrome with a 45,X [17]/46,XX [13] karyotype. Preimplantation genetic diagnosis was performed on four blastomeres obtained from four different embryos by fluorescence in situ hybridization probes specific to chromosomes X, Y, 13, 18, 21 in an intracytoplasmic sperm injection cycle. Blastomeres with normal signals. Two blastomeres detected as normal were transferred and pregnancy was achieved. Preimplantation Genetic Diagnose should be considered in the infertility treatment of the patient with mosaic Turner Syndrome. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  1. Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome.

    PubMed

    Graham, B H; Bacino, C A

    2003-06-01

    Turner syndrome is hypothesized to result from haplo-insufficiency of a gene or perhaps multiple genes present on the sex chromosomes; however, the frequent association of mosaicism with deletions of the sex chromosomes prevents establishing useful genotype/phenotype correlations. In this clinical report, we present a male with a de novo, non-mosaic deletion of the Y-chromosome. The phenotype of this patient is unlike any similar cases previously reported in the literature. This patient exhibits many classical clinical features of Turner syndrome including short stature, characteristic facial anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and hearing impairment. Detailed molecular characterization of this deleted Y-chromosome could provide important information towards establishing genotype/phenotype correlations in Turner syndrome.

  2. Turner's syndrome and cardiovascular anomalies: a case report and review of the literature.

    PubMed

    Subramaniam, P N

    1989-04-01

    Turner's syndrome is a genetic disease in which many cardiovascular anomalies have been reported, coarctation of the aorta being the most frequent. The most serious complication that can arise from these abnormalities is aortic dissection. The authors present an unusual case of Turner's syndrome with an aortic sinus aneurysm and severe aortic insufficiency in the absence of coarctation of the aorta. The various cardiovascular anomalies seen in Turner's syndrome, such as coarctation of the aorta, bicuspid aortic valve, aortic dissection, aortic sinus aneurysm and ascending aorta aneurysm, can best be understood on a common basis of congenital structural abnormalities involving the aorta and the aortic valve. The only evidence available for such an abnormality is the presence of cystic medial necrosis in the affected vascular tissues.

  3. Skeletal muscle microvascular function in girls with Turner syndrome.

    PubMed

    West, Sarah L; O'Gorman, Clodagh S; Elzibak, Alyaa H; Caterini, Jessica; Noseworthy, Michael D; Rayner, Tammy; Hamilton, Jill; Wells, Greg D

    2015-06-01

    Exercise intolerance is prevalent in individuals with Turner Syndrome (TS). We recently demonstrated that girls with TS have normal aerobic but altered skeletal muscle anaerobic metabolism compared to healthy controls (HC). The purpose of this study was to compare peripheral skeletal muscle microvascular function in girls with TS to HC after exercise. We hypothesized that girls with TS would have similar muscle blood-oxygen level-dependent (BOLD) magnetic resonance imaging (MRI) signal responses during recovery from exercise compared to HC. Thirteen TS participants and 8 HC completed testing. BOLD MRI was used to measure skeletal muscle microvascular response during 60 second recovery, following 60 s of exercise at 65% of maximal workload. Exercise and recovery were repeated four times, and the BOLD signal time course was fit to a four-parameter sigmoid function. Participants were 13.7 ± 3.1 years old and weighed 47.9 ± 14.6 kg. The mean change in BOLD signal intensity following exercise at the end of recovery, the mean response time of the function/the washout of deoxyhemoglobin, and the mean half-time of recovery were similar between the TS and HC groups. Our results demonstrate that compared to HC, peripheral skeletal muscle microvascular function following exercise in girls with TS is not impaired. This study supports the idea that the aerobic energy pathway is not impaired in children with TS in response to submaximal exercise. Other mechanisms are likely responsible for exercise intolerance in TS; this needs to be further investigated.

  4. Turner syndrome isochromosome karyotype correlates with decreased dental crown width.

    PubMed

    Rizell, S; Barrenäs, M-L; Andlin-Sobocki, A; Stecksén-Blicks, C; Kjellberg, H

    2012-04-01

    The aim of this project was to study possible influences of Turner syndrome (TS) karyotype and the number of X chromosomes with intact short arm (p-arm) on dental crown width. Primary and permanent mesio-distal crown width was measured on plaster casts from 112 TS females. The influence on crown width of four karyotypes: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, and the number of intact X chromosomal p-arms were investigated. In comparisons between karyotypes, statistically significant differences were found for isochromosome karyotype maxillary second premolars, canines, laterals, mandibular first premolars, and canines, indicating that this karyotype was the most divergent as shown by the most reduced crown width. When each karyotype group were compared versus controls, all teeth in the isochromosome group were significantly smaller than controls (P < 0.01-0.001). The 45,X/46,XX karyotype expressed fewer and smaller differences from controls, while 45,X individuals seemed to display an intermediate tooth width compared with 45,X/46,XX and isochromosomes. No significant difference in crown width was found comparing the groups with one or two intact X chromosomal p-arms. Both primary and permanent teeth proved to have a significantly smaller crown width in the entire group of TS females compared to healthy females. We conclude that the isochromosome group deviates most from other karyotypes and controls, exhibiting the smallest dental crown width, while individuals with 45,X/46,XX mosaicism seemed to have a less affected crown width. An influence of the number of intact p-arms on crown width could not be demonstrated in this study.

  5. 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.

  6. Growth promoting treatment normalizes speech frequency in Turner syndrome.

    PubMed

    Andersson-Wallgren, Gunnel; Ohlsson, Ann-Christine; Albertsson-Wikland, Kerstin; Barrenäs, Marie-Louise

    2008-06-01

    To assess objective and subjective voice parameters among Turner syndrome (TS) women in relation to genotype, hearing, growth, and previous treatment with growth hormone (GH) and androgen given that lowering of speaking fundamental frequency (SFF) during treatment is regarded as a negative side effect. Cross-sectional, controlled for karyotype and age. Voice function was studied objectively (SFF) and subjectively (questionnaire) in 117 women with TS. SFF did not differ between treated and nontreated participants or between patients with a spontaneous versus induced puberty. SFF was dependent on karyotype but not age. Subjective voice change was reported four times more often among treated compared with nontreated TS women (odds ratio [OR] = 4.4; 95% confidence interval [CI]: 0.9-20.10), whereas voice and articulation problems were reported three times more often among untreated compared with treated cases (OR = 2.9; 95% CI: 1.0-8.3). Voice symptoms were over-represented among patients having micrognathia (OR = 6.0; 95% CI: 1.6-22.3), hearing loss (OR = 8.6; 95% CI: 1.7-43.1), and monosomy (OR = 6.2; 95% CI: 0.8-36.2) but not among those with an arched palate. When given to TS girls, GH (33-66 microg/kg/d) and androgen (0.05 mg/kg/d) normalized SFF and reduced voice and articulation problems in adulthood. The TS phenotype includes important voice and speech problems, which in turn are associated with hearing problems, although genotypic, monosomic, and isochromosome patients have more voice problems and also more high-pitched voices than mosaic patients. Most TS women, despite their karyotype or age, exhibit a higher frequency of pitched voice than non-TS women.

  7. Gonadoblastoma in patients with Ullrich-Turner syndrome.

    PubMed

    Zelaya, Gabriela; López Marti, Jessica M; Marino, Roxana; Garcia de Dávila, Maria T; Gallego, Marta S

    2015-01-01

    Ullrich-Turner syndrome (UTS) is a common chromosomal abnormality caused by partial or complete X chromosome monosomy. One half of the patients have a 45,X karyotype, whereas the remaining patients display other X chromosome anomalies. In 6% to 11% of UTS, a normal or partly deleted Y chromosome has been found. A 10% to 30% risk of developing gonadoblastoma was found in the latter patients. The aim of this study was to evaluate the prevalence of Y chromosome-derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplasms in patients with UTS. Of 217 patients studied with UTS and chromosome analysis of peripheral-blood lymphocytes, Y chromosome material was found in 20 patients. Fluorescence in situ hybridization (FISH) testing was performed to characterize the structurally abnormal Y chromosome in 13 cases. Molecular analysis of the SRY gene could only be performed in 20 patients with 45,X karyotype. Two patients had the SRY genomes. Of the 20 patients with Y chromosome-derived material, 17 underwent gonadectomy. The incidence of gonadoblastoma development in our series was 35.5%. Furthermore, 1 patient also showed a pure dysgerminoma, and another showed a mixed dysgerminoma and embryonal carcinoma. We emphasize the importance of complete processing of the gonadectomy specimen, including step sections, molecular studies, and FISH, in addition to the classic cytogenetic searching for Y chromosome sequences, in patients who present with a nonmosaic 45,X karyotype. Finally, we propose to routinely collect a sample for storage in the tumor bank for future studies.

  8. Health-related quality of life among children with Turner syndrome: controlled cross-sectional study.

    PubMed

    Amedro, Pascal; Tahhan, Nabil; Bertet, Helena; Jeandel, Claire; Guillaumont, Sophie; Mura, Thibault; Picot, Marie-Christine

    2017-08-28

    The aim of the study was to assess health-related quality of life (HR-QoL) in children with Turner syndrome in comparison with controls. We prospectively recruited 16 female girls with Turner syndrome (mean age 15.2±2.6 years) and 78 female controls (mean age 12.7±2.8 years) in randomly selected schools. We used the PedsQL, a generic HR-QoL questionnaire (self and parents' versions). Global HR-QoL scores in Turner syndrome were lower than controls for self-reports (respectively, 74.3±3.0 vs. 82.8±1.3, p=0.01) and parents' reports (62.7±3.8 vs. 80.1±1.7, p<0.0001). In Turner syndrome, self-reported HR-QoL was impaired in school functioning (70.6±4.0 vs. 80.71±1.7, p=0.02), social functioning (78.2±4.0 vs. 90.4±1.8, p<0.01) and physical functioning (78.5±3.2 vs. 87.1±1.4, p=0.02), but not in emotional functioning. Parents' reported HR-QoL was impaired in all four dimensions. HR-QoL was impaired in this cohort of young females with Turner syndrome, as in previously reported adult studies. In addition to medical treatment and routine clinical follow-up, female girls and teenagers with Turner syndrome should also be supported psychologically by social, educational and psychotherapeutic interventions that aim to address their self-esteem and emotional difficulties.

  9. The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

    PubMed

    Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret

    2014-02-01

    To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.

  10. Fertility Preservation in Females with Turner Syndrome: A Comprehensive Review and Practical Guidelines

    PubMed Central

    Oktay, K; Bedoschi, G; Berkowitz, K; Bronson, R; Kashani, B; McGovern, P; Pal, L; Quinn, G; Rubin, K

    2016-01-01

    This article reviews the existing fertility preservation options for females diagnosed with Turner syndrome and provides practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in females, occurring in approximately one in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency (POI) and infertility. Although about 70–80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder may possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, so as to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood as the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, while cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remain investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 and ovarian tissue cryopreservation in prepubertal children affected. However, current efficacy of these approaches is unknown in this cohort.. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of desire for parenting. For those with Turner syndrome related cardiac contraindications to pregnancy, utilization of gestational surrogacy allows the possibility of biological parenting by using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed. PMID:26485320

  11. Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines.

    PubMed

    Oktay, Kutluk; Bedoschi, Giuliano; Berkowitz, Karen; Bronson, Richard; Kashani, Banafsheh; McGovern, Peter; Pal, Lubna; Quinn, Gwendolyn; Rubin, Karen

    2016-10-01

    In this article we review the existing fertility preservation options for women diagnosed with Turner syndrome and provide practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in women, occurring in approximately 1 in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency and infertility. Although approximately 70%-80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder might possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood because the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, and cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remains investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 years of age and ovarian tissue cryopreservation in affected prepubertal children. However, current efficacy of these approaches is unknown in this cohort. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of the desire for parenting. For those with Turner syndrome-related cardiac contraindications to pregnancy, use of gestational surrogacy allows the possibility of biological parenting using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed.

  12. A case of Turner syndrome (46XXp-/45X) complicated with Crohn's disease after hormone therapy.

    PubMed

    Ihara, Yutaro; Hizawa, Kazuoki; Fujita, Kouhei; Iida, Masahiro; Washio, Ema; Kai, Takahiro; Nitahata, Tomoki; Esaki, Motohiro; Iida, Mitsuo

    2017-01-01

    A 19-year-old woman, who had been receiving hormone replacement therapy for 13 months before the diagnosis of mosaic Turner syndrome (46XXp-/45X), developed Crohn's colitis and erythema nodosum of the lower legs. Colonoscopy revealed an anal fistula and the presence of deep longitudinal ulcers with cobblestoning in the colorectum. Therapy with prednisolone and adalimumab was effective for the intestinal and skin lesions. To date, all seven case reports of Turner syndrome in Japan have also developed Crohn's disease after hormone therapy, suggesting a possible association of sex hormones in the pathogenesis.

  13. Turner Syndrome and apparent absent uterus: a case report and review of the literature.

    PubMed

    Akierman, Sarah V; Skappak, Christopher D; Girgis, Rose; Ho, Josephine

    2013-01-01

    We report on a patient who initially presented with delayed puberty and an absent uterus on imaging with ultrasound and MRI. She was subsequently diagnosed with Turner Syndrome. Turner Syndrome typically presents with early loss of ovarian function and should be considered when primary ovarian insufficiency is present with apparent absent uterus on imaging. Follow-up imaging of the apparent absent uterus post-estrogen replacement therapy is important to confirm a normal uterus. A diagnosis of an absent uterus can be psychologically traumatic for patients and families, and can have significant implications for future fertility options.

  14. Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome.

    PubMed

    Gawlik, Aneta; Hankus, Magdalena; Such, Kamila; Drosdzol-Cop, Agnieszka; Madej, Paweł; Borkowska, Marzena; Zachurzok, Agnieszka; Malecka-Tendera, Ewa

    2016-12-01

    Turner syndrome is the most common example of hypergonadotropic hypogonadism resulting from gonadal dysgenesis. Most patients present delayed, or even absent, puberty. Premature ovarian failure can be expected even if spontaneous menarche occurs. Laboratory markers of gonadal dysgenesis are well known. The choice of optimal hormone replacement therapy in children and adolescents remains controversial, particularly regarding the age at which therapy should be initiated, and the dose and route of estrogen administration. On the basis of a review of the literature, we present the most acceptable schedule of sex steroid replacement therapy in younger patients with Turner syndrome.

  15. Comparison of Visual-Spatial Performance Strategy Training in Children with Turner Syndrome and Learning Disabilities.

    ERIC Educational Resources Information Center

    Williams, Janet K.; And Others

    1992-01-01

    Thirteen females with Turner syndrome, 13 females with nonverbal learning disabilities, and 14 males with nonverbal learning disabilities, ages 7-14, were taught via a cognitive behavioral modification approach to verbally mediate a spatial matching task. All three groups showed significant task improvement after the training, with no significant…

  16. Social Functioning among Girls with Fragile X or Turner Syndrome and Their Sisters.

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.; Baumgardner, Thomas; Freund, Lisa S.; Reiss, Allan L.

    1998-01-01

    Social behaviors among girls (ages 6-16) with fragile X (n=8) or Turner syndrome (n=9) were examined to address the role of family environment versus biological determinants of social dysfunction. Compared to their sisters, subjects had lower IQS and higher rating of social and attention problems. (Author/CR)

  17. [Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome].

    PubMed

    de Marqui, Alessandra Bernadete Trovó; da Silva-Grecco, Roseane Lopes; Balarin, Marly Aparecida Spadotto

    2016-01-01

    To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome using molecular techniques. A literature search was performed in Pubmed, limiting the period of time to the years 2005 to 2014 and using the descriptors: Turner syndrome and Y sequences (n=26), and Turner syndrome and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left. the main results regarding the prevalence of Y-chromosome sequences in Turner syndrome were: 1-about 60% of the studies were conducted by Brazilian researchers; 2-the prevalence varied from 4.6 to 60%; 3-the most frequently investigated genes were SRY, DYZ3 and TSPY; 4-seven studies used only PCR, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10 to 25%; in two of them it was zero. according to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  18. Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile

    ERIC Educational Resources Information Center

    Rovet, Joanne

    2004-01-01

    Turner Syndrome (TS) is a genetic disorder affecting primarily females. It arises from a loss of X-chromosome material, most usually one of the two X chromosomes. Affected individuals have a number of distinguishing somatic features, including short stature and ovarian dysgenesis. Individuals with TS show a distinct neurocognitive profile…

  19. Ocular Motor Indicators of Executive Dysfunction in Fragile X and Turner Syndromes

    ERIC Educational Resources Information Center

    Lasker, Adrian G.; Mazzocco, Michele M. M.; Zee, David S.

    2007-01-01

    Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner…

  20. Parsonage-Turner syndrome associated with anti-bovine viral diarrhoea virus antibodies.

    PubMed

    Giangaspero, M; Cominardi, P F

    2006-01-01

    The Parsonage-Turner syndrome, a rare form of neuralgic amyotrophy of unknown aetiology, was diagnosed in a patient involved in an outbreak of bovine viral diarrhoea virus (BVDV). The patient, suffering from inflammation of the right shoulder with a permanent atrophy, developed anti-BVDV antibody titres which remained very high during the four following years of monitoring.

  1. Ocular Motor Indicators of Executive Dysfunction in Fragile X and Turner Syndromes

    ERIC Educational Resources Information Center

    Lasker, Adrian G.; Mazzocco, Michele M. M.; Zee, David S.

    2007-01-01

    Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner…

  2. Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile

    ERIC Educational Resources Information Center

    Rovet, Joanne

    2004-01-01

    Turner Syndrome (TS) is a genetic disorder affecting primarily females. It arises from a loss of X-chromosome material, most usually one of the two X chromosomes. Affected individuals have a number of distinguishing somatic features, including short stature and ovarian dysgenesis. Individuals with TS show a distinct neurocognitive profile…

  3. Comparison of Visual-Spatial Performance Strategy Training in Children with Turner Syndrome and Learning Disabilities.

    ERIC Educational Resources Information Center

    Williams, Janet K.; And Others

    1992-01-01

    Thirteen females with Turner syndrome, 13 females with nonverbal learning disabilities, and 14 males with nonverbal learning disabilities, ages 7-14, were taught via a cognitive behavioral modification approach to verbally mediate a spatial matching task. All three groups showed significant task improvement after the training, with no significant…

  4. Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report.

    PubMed

    Essandoh, Michael; Castellon-Larios, Karina; Zuleta-Alarcon, Alix; Portillo, Juan Guillermo; Crestanello, Juan A

    2014-01-01

    Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements. Patients with aortic stenosis, present with the same symptomatology independent of leaflet morphology. However, the presence of bicuspid and unicuspid aortic stenosis is associated with a higher incidence of aortopathy, especially in Turner syndrome patients. Turner syndrome, an X monosomy, is associated with aortic valve anomalies, aortopathy, and hypertension. These risk factors lead to a higher incidence of aortic dissection in this population. Patients with Turner syndrome and aortic stenosis that present for aortic valve replacement should therefore undergo extensive aortic imaging prior to surgery. Transthoracic echocardiography is the diagnostic tool of choice for valvular pathology, yet it can misdiagnose unicuspid aortic valves as bicuspid valves due to certain similarities on imaging. Transesophageal echocardiography is a better tool for distinguishing between the two valvular abnormalities, although diagnostic errors can still occur. We present a case of a 50-year-old female with history of Turner syndrome and bicuspid aortic stenosis presenting for aortic valve replacement and ascending aorta replacement. Intraoperative transesophageal echocardiography revealed a stenotic unicommissural unicuspid aortic valve with an eccentric orifice, which was missed on preoperative imaging. This case highlights the importance of intraoperative transesophageal echocardiography in confirming preoperative findings, diagnosing further cardiac pathology, and ensuring adequate surgical repair.

  5. Social Functioning among Girls with Fragile X or Turner Syndrome and Their Sisters.

    ERIC Educational Resources Information Center

    Mazzocco, Michele M. M.; Baumgardner, Thomas; Freund, Lisa S.; Reiss, Allan L.

    1998-01-01

    Social behaviors among girls (ages 6-16) with fragile X (n=8) or Turner syndrome (n=9) were examined to address the role of family environment versus biological determinants of social dysfunction. Compared to their sisters, subjects had lower IQS and higher rating of social and attention problems. (Author/CR)

  6. Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome.

    PubMed

    Walter, E; Mazaika, P K; Reiss, A L

    2009-11-24

    Over the past few decades, behavioral, neuroimaging and molecular studies of neurogenetic conditions, such as Williams, fragile X, Turner and velocardiofacial (22q11.2 deletion) syndromes, have led to important insights regarding brain development. These investigations allow researchers to examine "experiments of nature" in which the deletion or alteration of one gene or a contiguous set of genes can be linked to aberrant brain structure or function. Converging evidence across multiple imaging modalities has now begun to highlight the abnormal neural circuitry characterizing many individual neurogenetic syndromes. Furthermore, there has been renewed interest in combining analyses across neurogenetic conditions in order to search for common organizing principles in development. In this review, we highlight converging evidence across syndromes from multiple neuroimaging modalities, with a particular emphasis on functional imaging. In addition, we discuss the commonalities and differences pertaining to selective deficits in visuospatial processing that occur across four neurogenetic syndromes. We suggest avenues for future exploration, with the goal of achieving a deeper understanding of the neural abnormalities in these affected populations.

  7. Effect of oxandrolone therapy on adult height in Turner syndrome patients treated with growth hormone: a meta-analysis.

    PubMed

    Sheanon, Nicole M; Backeljauw, Philippe F

    2015-01-01

    Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turner Syndrome and the standard treatment is recombinant human growth hormone. When growth hormone is started at an early age a normal adult height can be achieved. With delayed diagnosis young women with Turner Syndrome may not reach a normal height. Adjuvant therapy with oxandrolone is used but there is no consensus on the optimal timing of treatment, the duration of treatment and the long term adverse effects of treatment. The objective of this review and meta-analysis is to examine the effect of oxandrolone on adult height in growth hormone treated Turner syndrome patients. Eligible trials were identified by a literature search using the terms: Turner syndrome, oxandrolone. The search was limited to English language randomized-controlled trials after 1980. Twenty-six articles were reviewed and four were included in the meta-analysis. A random effects model was used to calculate an effect size and confidence interval. The pooled effect size of 2.0759 (95 % CI 0.0988 to 4.0529) indicates that oxandrolone has a positive effect on adult height in Turner syndrome when combined with growth hormone therapy. In conclusion, the addition of oxandrolone to growth hormone therapy for treatment of short stature in Turner syndrome improves adult height. Further studies are warranted to investigate if there is a subset of Turner syndrome patients that would benefit most from growth hormone plus oxandrolone therapy, and to determine the optimal timing and duration of such therapy.

  8. Successful advanced maternal age pregnancy with mosaic turner syndrome conceived after ovulation induction with clomiphene citrate: a case report.

    PubMed

    Murakami, Masahiro; Hinokio, Kenji; Kiyokawa, Machiko; Morine, Mikio; Iwasa, Takeshi

    2014-01-01

    Turner women typically experience gonadal dysfunction that results in amenorrhea and sterility. We encountered a case of mosaic Turner syndrome where conception was possible after ovulation induction with clomiphene citrate (CC). The patient's ovaries were overresponsive to induction with CC. The challenges and successful outcome are reported.

  9. Ductopenia and fetal liver-like architecture as unique and evocative sign of Turner syndrome.

    PubMed

    Valentini, P; Angelone, D F; Rossodivita, A; Francalanci, P; Buonsenso, D; Ceccarelli, M; Callea, F

    2013-04-01

    Turner syndrome is the most common genetic disorder in females. In most subjects, with a normal physical appearance at birth, the diagnosis is suspected long after birth because of short stature, delayed puberty, primary or secondary amenorrhea or infertility. Abnormalities of liver function tests are reported in literature, with a prevalence ranging from 20% to 80%. In most subjects liver diseases are self-limiting, associated with obesity, hormonal therapy and autoimmune diseases. An association between Turner syndrome and cryptogenic liver disease has been reported. Abnormalities of liver function tests could be the unique sign of Turner syndrome in subjects with normal phenotypes. The histological picture of "fetal liver-like architecture" and "ductopenia" is of fundamental importance for the diagnosis of chromosomopathy. Review the causes of hypertransaminasemia by focusing on more rare as metabolic and genetic diseases. We evaluated a 10 year old girl with a normal phenotype affected by chronic hypertransaminasemia and cholestasis, in whom a needle liver biopsy was performed after the most common causes of hypertransaminasemia were excluded. Liver histological evaluation revealed a smoldering colangiopathy with mild ductopenia and a fetal liver-like architecture. Turner syndrome, suspected on the basis of this histological picture, was confirmed by a pelvic ultrasound and a chromosome analysis. The histological features of "fetal liver-like architecture" and "ductopenia" represent an evocative sign that could indicate the diagnostic suspicion of Turner syndrome in a subject lacking in signs or symptoms of this disease. It is important to perform a pelvic ultrasound and an endocrinological evaluation in all females with chronic asymptomatic hypertransaminasemia even though they have normal phenotypes.

  10. [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

    PubMed

    Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

    2017-02-10

    To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

  11. Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

    PubMed

    Portnoï, Marie-France; Chantot-Bastaraud, Sandra; Christin-Maitre, Sophie; Carbonne, Bruno; Beaujard, Marie-Paule; Keren, Boris; Lévy, Jonathan; Dommergues, Marc; Cabrol, Sylvie; Hyon, Capucine; Siffroi, Jean-Pierre

    2012-11-01

    Spontaneous fertility is rare among patients with Turner syndrome and is most likely in women with mosaicism for a normal 46,XX cell line. We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. The chromosomal analysis was carried out through cytogenetics and molecular karyotyping using a SNP array platform. The mother, a Turner syndrome woman, diagnosed in midchildhood because of short stature, was found to have a 45,X/46,X,der(X)t(X;Y)(p11.4;p11.2) karyotype, with a predominant 45,X cell line. Her parents decided against prophylactic gonadectomy, generally recommended at an early age when Y chromosome has been identified, because at age 13, she had spontaneous puberty and menarche. She reached a final height of 154 cm after treatment with growth hormone. At age 24, she became spontaneously pregnant. She had a mild aortic coarctation and close follow-up cardiac evaluation, including cardiac magnetic resonance imaging, had been performed during her pregnancy, which progressed uneventfully, except for intra-uterine growth retardation. Prenatal diagnosis revealed a female karyotype, with transmission of the maternal translocation with an unexpected different mosaic:47,X,der(X)t(X;Y)x2/46,X,der(X)t(X;Y) karyotype. This complex and unusual karyotype, including a mosaic partial trisomy X and a non-mosaic Xpter-Xp11.4 monosomy, results in transmission of Turner syndrome from mother to daughter. At birth, the girl had normal physical examination except for growth retardation. This family illustrates the complexity and difficulties, in term of patient counseling and management in Turner syndrome, in determining ovarian status, fertility planning, risks associated with pregnancies, particularly when mosaicism for Y material chromosome is identified.

  12. Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and amenorrhoea.

    PubMed

    Modi, Deepak; Bhartiya, Deepa

    2007-11-01

    In the present study, 73 cases with a clinical diagnosis of Turner syndrome, or with primary or secondary amenorrhoea without frank Turner phenotype, were evaluated for presence of low level Y chromosome mosaicism using molecular methods. Fluorescence in-situ hybridization for centromere and q arm of the Y chromosome and nested polymerase chain reaction for the sex determining region on Y (SRY) gene were performed in peripheral blood, buccal cells and gonadal biopsies. The overall frequency of Y chromosome mosaicism was found to be 18% (13/73 cases). Four cases (16%) of Turner syndrome had Y chromosome mosaicism, seven cases (28%) with primary amenorrhoea and two cases (9%) with secondary amenorrhoea had Y chromosome mosaicism. Histologically detectable gonadoblastoma was observed in one of seven cases (14%) that had Y chromosome mosaicism. This frequency is lower than that reported previously, underscoring the need for large prospective investigations to determine the frequency of Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and other forms of amenorrhoea.

  13. Genotype/phenotype correlation in women with nonmosaic X chromosome deletions and Turner syndrome

    SciTech Connect

    Zinn, A.R.

    1994-09-01

    Turner syndrome is a complex human developmental disorder associated with the absence of the second sex chromosome (monosomy X). Cardinal features of the Turner phenotype include high intrauterine lethality, growth retardation, gonadal failure, and the variable presence of specific somatic abnormalities such as webbed neck, lymphedema, and skeletal abnormalities. Recent observations support the hypothesis that the phenotype associated with monosomy X results from haploid dosage of genes common the X and Y chromosomes that escape X-inactivation ({open_quotes}Turner genes{close_quotes}). Apart from a locus causing short stature that maps to the pseudoautosomal region on the distal short arm, the location of X-linked Turner genes is not known. Karyotype/phenotype correlations in women with partial X deletions have been inconsistent. However, previous studies have focused on sporadic sex chromosome aberrations and may have been confounded by occult mosaicism. In addition, mapping of deletions was limited by the resolution of cytogenetic techniques. I am reexamining genotype/phenotype correlations in partial X monosomy, focusing on a subset of cases in which mosaicism is highly unlikely (e.g., unbalanced X-autosome translocations, familial X deletions), and using molecular techniques to map deletions. I have collected eight cases of nonmosaic X deletions in women with varied manifestations of Turner syndrome. Cytogenetic data suggests that genes responsible for Turner anatomic abnormalities may lie within a critical region of the very proximal portion of the short arm (Xp11). Molecular characterization of the deletions is in progress. Methods include (1) fluorescence in situ hybridization of metaphase spreads from patient-derived cell lines, using cosmid probes that map to known locations on Xp, and (2) sequence tagged site (STS) content mapping of somatic cell hybrids retaining the deleted X chromosomes derived from these cell lines.

  14. Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome.

    PubMed

    Arnold, Raoul; Neu, Marie; Hirtler, Daniel; Gimpel, Charlotte; Markl, Michael; Geiger, Julia

    2017-04-01

    Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all P<0.03). Patients with abnormal helical or vortical flow in the ascending aorta had significantly larger diameters of the ascending aorta (P<0.03). Peak systolic wall shear stress, pulsatility index and oscillatory shear index were significantly lower in Turner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections.

  15. [Syndrome overlap: autoimmune hepatitis and autoimmune cholangitis].

    PubMed

    Guerra Montero, Luis; Ortega Alvarez, Félix; Marquez Teves, Maguin; Asato Higa, Carmen; Sumire Umeres, Julia

    2016-01-01

    Autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis and autoimmune cholangitis are chronic autoimmune liver disease, usually present separate, the cases where characteristics of two of the above is observed liver disease is commonly referred to as Overlap Syndromes (OS). Although there is no consensus on specific criteria for the diagnosis of OS identification of this association is important for initiating appropriate treatment and prevent its progression to cirrhosis or at least the complications of cirrhosis and death. We report the case of awoman aged 22 cirrhotic which debuted are edematous ascites, severe asthenia and jaundice compliant diagnostics SS criteria and initially present any response to treatment with ursodeoxycholic acid and oral corticosteroids, but ultimately finished performing a transplant orthotopic liver.

  16. Heterogeneity of asthma–COPD overlap syndrome

    PubMed Central

    Joo, Hyonsoo; Han, Deokjae; Lee, Jae Ha; Rhee, Chin Kook

    2017-01-01

    Many patients suffering from asthma or COPD have overlapping features of both diseases. However, a phenotypical approach for evaluating asthma–COPD overlap syndrome (ACOS) has not been established. In this report, we examined the phenotypes in patients with ACOS. Patients diagnosed with ACOS between 2011 and 2015 were identified and classified into four phenotype groups. Group A was composed of patients who smoked <10 pack years and had blood eosinophil counts ≥300. Group B was composed of patients who smoked <10 pack years and had blood eosinophil counts <300. Group C was composed of patients who smoked ≥10 pack years and had blood eosinophil counts ≥300. Group D was composed of patients who smoked <10 pack years and had blood eosinophil counts <300. Clinical characteristics were analyzed and compared among groups. Comparisons were made among 103 ACOS patients. Patients in group D were oldest, while patients in group A were youngest. There were relatively more female patients in groups A and B; the majority of patients in groups C and D were male. The degree of airflow obstruction was most severe in group C. The rate of being free of severe exacerbation was significantly lower in group C than in the other groups. In this study, each ACOS phenotype showed different characteristics. The proportion of patients free of severe exacerbation differed significantly among groups. At this time, further studies on the phenotypes of ACOS are required. PMID:28260876

  17. Are you looking at me? Accuracy in processing line-of-sight in Turner syndrome.

    PubMed Central

    Elgar, Kate; Campbell, Ruth; Skuse, David

    2002-01-01

    The behavioural phenotype of women with Turner syndrome (X-monosomy, 45,X) is poorly understood, but includes reports of some social development anomalies. With this in mind, accuracy of direction of gaze detection was investigated in women with Turner syndrome. Two simple experimental tasks were used to test the prediction that the ability to ascertain gaze direction from face photographs showing small lateral angular gaze deviations would be impaired in this syndrome, compared with a control population of men and women. The prediction was confirmed and was found to affect both the detection of egocentric gaze from the eyes ('is the face looking at me?') and the detection of allocentric gaze, where the eyes in a photographed face inspected one of a number of locations of attention ('where is she looking?'). We suggest that dosage-sensitive X-linked genes contribute to the development of gaze-monitoring abilities. PMID:12495483

  18. False aneurysm on distal part of coarctation of the aorta in a parous Turner syndrome patient.

    PubMed

    Oi, Keiji; Yoshida, Tetsuya; Takeshita, Masashi; Tsuruta, Goro

    2013-09-01

    False aneurysm associated with untreated coarctation of the aorta (CoA) is an uncommon vascular complication. We present a 41-year-old woman with mosaic Turner syndrome who had CoA complicated with a small false aneurysm on descending aorta just distal to the coarctation. The patient had not been diagnosed with Turner syndrome despite several physical characteristics of the syndrome because she had histories of natural childbirth. The false aneurysm was resected with the coarctation through a thoracotomy and proximal aorta was directly anastomosed to distal aorta. Endovascular therapy has become preferred method in recent years in treatment for coarctation of the aorta. However, careful consideration should be given to the irregularities on the aorta with the coarctation for diagnosis of false aneurysm.

  19. Brachial neuritis or Parsonage-Turner syndrome: A problem of liability. A presentation of 3 cases.

    PubMed

    Rodríguez-Hornillo, M; de la Riva, M C; Ojeda, R

    2016-01-01

    Neuralgic amyotrophy, brachial neuritis or Parsonage-Turner syndrome is a rare neuromuscular involvement of unknown aetiology. When it onsets in connection with a health care act, such as childbirth or surgery, a malpractice argument is often used as a cause of adverse outcome, usually due to an incorrect position of the patient on the operating table, a circumstance which directly involves the anesthesia area. Three cases are presented of Parsonage-Turner syndrome following very different surgery, with different results as regards prognosis. A review and discussion of bibliography is presented on the possibility that such circumstances are the subject of malpractice claims. Special emphasis is placed on the most currently accepted aetiopathogenic theories, and the relationship of this syndrome with the surgical act as a determining medico-legal aspect. Valuation parameters are proposed.

  20. Serum LH and FSH Responses to Synthetic LH-RH in Normal Infants, Children and Patients With Turner's Syndrome

    ERIC Educational Resources Information Center

    Suwa, Seizo; And Others

    1974-01-01

    Effects of luteinizing hormone-releasing hormone (LH-RH) on LH and follicle-stimulating hormone (FSH) release were studied in 26 normal children and six patients (from 1-to 14-years-old) with Turner's syndrome. (Author)

  1. Serum LH and FSH Responses to Synthetic LH-RH in Normal Infants, Children and Patients With Turner's Syndrome

    ERIC Educational Resources Information Center

    Suwa, Seizo; And Others

    1974-01-01

    Effects of luteinizing hormone-releasing hormone (LH-RH) on LH and follicle-stimulating hormone (FSH) release were studied in 26 normal children and six patients (from 1-to 14-years-old) with Turner's syndrome. (Author)

  2. A turner syndrome patient carrying a mosaic distal x chromosome marker.

    PubMed

    Mazzaschi, Roberto L P; Taylor, Juliet; Robertson, Stephen P; Love, Donald R; George, Alice M

    2014-01-01

    A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild "classic" Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

  3. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    PubMed

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

  4. Turner syndrome in Albania and the efficacy of its treatment with growth hormone.

    PubMed

    Hoxha, Petrit; Babameto-Laku, Anila; Vyshka, Gentian; Gjoka, Klodiana; Minxuri, Dorina; Myrtaj, Elira; Çakërri, Luljeta

    2015-11-01

    The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a retrospective analysis of 59 patients suffering from this syndrome (aging from 5 to 23 years old). The diagnosis of female patients suffering from Turner syndrome is delayed, with a mean age at the moment of diagnosis of 13.74 years (5-23 years). The main reason for seeking medical advice was the growth retardation or a delayed puberty. Available data for 52 patients showed that the most frequent accompanying pathologies were the following: thyroid autoimmune disorders (59%), cardiovascular anomalies (43%), renal pathologies (41%), hearing impairment (4.3%) and hypertension (3.3%). Follow-up for the growth rate was possible for 52 patients out of the total of 59 patients. Twenty-five of the female patients suffering Turner syndrome and forming part of our study sample were treated with growth hormone for a period averaging 3 years and 4 months. A variety of reasons was identified as responsible for the missed treatment in 27 patients. We saw an enhanced growth (in terms of body height) within the treated subgroup, when compared with the untreated subgroup (27 patients), especially during the first 3 years of the follow-up. No side effects of this treatment were reported. Both groups of patients initiated as well a sexual hormone therapy (estrogens and progesterone) for inducing puberty at the age of 12 years. Further work is needed for an early diagnosis of this syndrome, the prompt treatment with growth hormone and the monitoring of accompanying disorders. This will ensure a better quality of life and an improvement of the longevity of patients suffering from the Turner syndrome.

  5. [Partial abnormal pulmonary venous return. An underestimated and unknown association in Turner-Ullrich syndrome. Presentation of an original case].

    PubMed

    Neel, G; Fournie, J M; Maillard, L; Rioux, P; Desveaux, B; Quilliet, L; Raynaud, P

    1991-11-01

    The authors report the case of a 59-year-old woman with a complex cardiac lesion consisting of degenerative major mitral insufficiency masking partial abnormal pulmonary venous return. These cardiac abnormalities fell within a context of genetic disease since the patient had Turner's syndrome, confirmed at the age of 58 by a 45 x 0 karyotype. They detail the originality of the clinical manifestations of partial abnormal pulmonary venous return and review the literature concerning cardiac malformations in Turner's syndrome.

  6. Pilot Study of Blood Pressure in Girls With Turner Syndrome: An Awareness Gap, Clinical Associations, and New Hypotheses.

    PubMed

    Los, Evan; Quezada, Emilio; Chen, Zunqiu; Lapidus, Jodi; Silberbach, Michael

    2016-07-01

    Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; P<0.05). Elevated systolic BP was positively associated with obesity (56% versus 31%; P<0.05). Because the prevalence of obesity in the studied population was similar to Center for Disease Control published data for obesity in all girls and the prevalence of increased BP is approximately twice that of the general population, the Turner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population.

  7. Unusual association of turner syndrome and hypopituitarism in a Tunisian family.

    PubMed

    Bougacha-Elleuch, N; Elleuch, M; Charfi, N; Mnif, F; Belghith, N; Abdelhedi, F; Kammoun, H; Hachicha, M; Mnif, M; Abid, M

    2016-01-01

    Familial occurrence of either Turner syndrome or hypopituitarism is very rare. Particularly, their association is an uncommon finding. In this context, we describe for the first time 4 sisters with Turner syndrome, hypopituitarism was reported in three among them. Our cohort consists of four Tunisian adult sisters belonging to a consanguineous family. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. Turner syndrome was diagnosed at the ages of 14, 17, 31 and 43 years in cases 1, 2, 3 and 4 respectively. They suffered from short stature, dysmorphic syndrome and/or delayed puberty. Interestingly, 3 among them showed also hypopituitarism, hypogonadotrophic hypogonadism and central hypothyroidism. Somatotropic insufficiency was proven in one case. Pituitary MRI has shown an empty sella turcica with hypoplastic pituitary gland in three cases. Their karyotypes were compatible with 45X in one case, 45X/46XX in the second and 45X/46XX/47XXY with x label in two cases. Hence, the presence of these familial cases of TS must evoke new etiopathogenetic arguments. Coincidence of hypopituitarism in this family, might suggest common genetic background for the two diseases. This particular family would be a precious tool for an extensive molecular analysis. More attention should be given to other family's members mainly in the presence of delayed puberty and sterility in other members. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  8. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

    PubMed

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  9. Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism.

    PubMed

    Yamazaki, Masanori; Sato, Ai; Nishio, Shin-ichi; Takeda, Teiji; Miyamoto, Takahide; Katai, Miyuki; Hashizume, Kiyoshi

    2009-01-01

    A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.

  10. Abnormal Methylation Status of the GNAS Exon 1A Region in Pseudohypohyperparathyroidism Combined With Turner Syndrome.

    PubMed

    Zhu, Jie; Wang, Dong; Ren, An; Xing, Yan; Zhang, Dongliang; Wei, Jun; Yu, Ning; Xing, Xuenong; Ye, Shandong

    2015-12-01

    Pseudohypohyperparathyroidism (PHHP) is a rare type of pseudohypoparathyroidism (PHP), which seems to have a normal skeletal response to parathyroid hormone but shows renal resistance. Almost all patients with PHHP have PHP Ib, a subtype of PHP that is usually caused by GNAS methylation defects, often in exon 1A. Some features of Albright hereditary osteodystrophy can occasionally be found in patients with PHHP, but these features are also common in Turner syndrome. The authors report on an extremely rare case of a patient with PHHP and Turner syndrome, a 47-year-old woman who sought medical attention for hypocalcemia and elevated parathyroid hormone. She had no family history of hypocalcemia and no STX16 gene deletions. She had a mosaic karyotype of 46, X, del(X)(p11.4)/45, XO. Pyrosequencing was performed to determine the GNAS exon 1A methylation. The degree of methylation found in exon 1A of the patient was lower than her unaffected relatives.

  11. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)

    PubMed Central

    Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

    2017-01-01

    Introduction Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Aim Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. Materials and methods We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. Results The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45), particularly the cardiovascular ones (r=0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. Conclusion The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical

  12. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

    PubMed

    Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

    2017-01-01

    Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45), particularly the cardiovascular ones (r=0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be conducted.

  13. Spectrum of aortic valve abnormalities associated with aortic dilation across age groups in Turner syndrome.

    PubMed

    Olivieri, Laura J; Baba, Ridhwan Y; Arai, Andrew E; Bandettini, W Patricia; Rosing, Douglas R; Bakalov, Vladimir; Sachdev, Vandana; Bondy, Carolyn A

    2013-11-01

    Congenital aortic valve fusion is associated with aortic dilation, aneurysm, and rupture in girls and women with Turner syndrome. Our objective was to characterize aortic valve structure in subjects with Turner syndrome and to determine the prevalence of aortic dilation and valve dysfunction associated with different types of aortic valves. The aortic valve and thoracic aorta were characterized by cardiovascular MRI in 208 subjects with Turner syndrome in an institutional review board-approved natural history study. Echocardiography was used to measure peak velocities across the aortic valve and the degree of aortic regurgitation. Four distinct valve morphologies were identified: tricuspid aortic valve, 64% (n=133); partially fused aortic valve, 12% (n=25); bicuspid aortic valve, 23% (n=47); and unicuspid aortic valve, 1% (n=3). Age and body surface area were similar in the 4 valve morphology groups. There was a significant trend, independent of age, toward larger body surface area-indexed ascending aortic diameters with increasing valve fusion. Ascending aortic diameters were (mean±SD) 16.9±3.3, 18.3±3.3, and 19.8±3.9 mm/m(2) (P<0.0001) for tricuspid aortic valve, partially fused aortic valve, and bicuspid aortic valve+unicuspid aortic valve, respectively. Partially fused aortic valve, bicuspid aortic valve, and unicuspid aortic valve were significantly associated with mild aortic regurgitation and elevated peak velocities across the aortic valve. Aortic valve abnormalities in Turner syndrome occur with a spectrum of severity and are associated with aortic root dilation across age groups. Partial fusion of the aortic valve, traditionally regarded as an acquired valve problem, had an equal age distribution and was associated with an increased ascending aortic diameters.

  14. Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD.

    PubMed

    Hasegawa, Yukihiro; Ariyasu, Daisuke; Izawa, Masako; Igaki-Miyamoto, Junko; Fukuma, Mami; Hatano, Megumi; Yagi, Hiroko; Goto, Masahiro

    2017-02-27

    Estrogen replacement therapy in Turner syndrome should theoretically mimic the physiology of healthy girls. The objective of this study was to describe final height and bone mineral density (BMD) in a group of 17 Turner syndrome patients (group E) who started their ethinyl estradiol therapy with an ultra-low dosage (1-5 ng/kg/day) from 9.8-13.7 years. The subjects in group E had been treated with GH 0.35 mg/kg/week since the average age of 7.4 years. The 30 subjects in group L, one of the historical groups, were given comparable doses of GH, and conjugated estrogen 0.3125 mg/week ∼0.3125 mg/day was initiated at 12.2-18.7 years. The subjects in group S, the other historical group, were 21 patients who experienced breast development and menarche spontaneously. Final height (height gain < 2 cm/year) in group E was 152.4 ± 3.4 cm and the standard deviation (SD) was 2.02 ± 0.62 for Turner syndrome. The final height in group L was 148.5 ± 3.0 cm with a SD of 1.30 ± 0.55, which was significantly different from the values for group E. The volumetric BMD of group S (0.290 ± 0.026 g/cm(3)) was significantly different from that of group L or E (0.262 or 0.262 g/cm(3) as a mean, respectively). This is the first study of patients with Turner syndrome where estrogen was administered initially in an ultra-low dose and then increased gradually. Our estrogen therapy in group E produced good final height but not ideal BMD.

  15. Mortality in women with turner syndrome in Great Britain: a national cohort study.

    PubMed

    Schoemaker, Minouk J; Swerdlow, Anthony J; Higgins, Craig D; Wright, Alan F; Jacobs, Patricia A

    2008-12-01

    Turner syndrome is characterized by complete or partial X chromosome monosomy. It is associated with substantial morbidity, but mortality risks and causes of death are not well described. Our objective was to investigate mortality and causes of death in women with Turner syndrome. We constructed a cohort of women diagnosed with Turner syndrome at almost all cytogenetic centers in Great Britain and followed them for mortality. A total of 3,439 women diagnosed between 1959-2002 were followed to the end of 2006. Standardized mortality ratios (SMRs) and absolute excess risks were evaluated. In total, 296 deaths occurred. Mortality was significantly raised overall [SMR = 3.0; 95% confidence interval (CI) = 2.7-3.4] and was raised for nearly all major causes of death. Circulatory disease accounted for 41% of excess mortality, with greatest SMRs for aortic aneurysm (SMR = 23.6; 95% CI = 13.8-37.8) and aortic valve disease (SMR = 17.9; 95% CI = 4.9-46.0), but SMRs were also raised for other circulatory conditions. Other major contributors to raised mortality included congenital cardiac anomalies, diabetes, epilepsy, liver disease, noninfectious enteritis and colitis, renal and ureteric disease, and pneumonia. Absolute excess risks of death were considerably greater at older than younger ages. Mortality in women with Turner syndrome is 3-fold higher than in the general population, is raised for almost all major causes of death, and is raised at all ages, with the greatest excess mortality in older adulthood. These risks need consideration in follow-up and counseling of patients and add to reasons for continued follow-up and preventive measures in adult, not just pediatric, care.

  16. Turner syndrome: update on biology and management across the life span.

    PubMed

    Levitsky, Lynne L; Luria, Anne H O'Donnell; Hayes, Frances J; Lin, Angela E

    2015-02-01

    We review recent understanding of the pathophysiology, molecular biology, and management of Turner syndrome. Sophisticated genetic techniques are able to detect mosaicism in one-third of individuals previously thought to have monosomy X. Prenatal detection using maternal blood should permit noninvasive detection of most fetuses with an X chromosome abnormality. Disproportionate growth with short limbs has been documented in this condition, and a target gene of short stature homeobox, connective tissue growth factor (Ctgf), has been described. Liver disease is more common in Turner syndrome than previously recognized. Most girls have gonadal failure. Spontaneous puberty and menarche is more commonly seen in girls with XX mosaicism. Low-dose estrogen replacement therapy may be given early to induce a more normal onset and tempo of puberty. Oocyte donation for assisted reproduction carries a substantial risk, particularly if the woman has known cardiac or aortic disease. Neurodevelopmental differences in Turner syndrome are beginning to be correlated with differences in brain anatomy. An increased understanding of the molecular basis for aspects of this disorder is now developing. In addition, a renewed focus on health maintenance through the life span should provide better general and targeted healthcare for these girls and women.

  17. The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.

    PubMed

    Atton, Giles; Gordon, Kristiana; Brice, Glen; Keeley, Vaughan; Riches, Katie; Ostergaard, Pia; Mortimer, Peter; Mansour, Sahar

    2015-12-01

    Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000-1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.

  18. A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

    PubMed

    Kalkan, Rasime; Özdağ, Nermin; Bundak, Rüveyde; Çirakoğlu, Ayşe; Serakinci, Nedime

    2016-01-01

    Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal. Non-mosaic monosomy X is observed in approximately 45% of postnatal patients with Turner syndrome and the rest of the patients have structural abnormalities or mosaicism involving 46,X,i(Xq), 45,X/46,XX, 45,X and other variants. The phenotype of 45,X/46,X,+mar individuals varies by the genetic continent and degree of the mosaicism. The gene content of the marker chromosome is the most important when correlating the phenotype with the genotype. Here we present an 11-year-old female who was referred for evaluation of her short stature and learning disabilities. Conventional cytogenetic investigation showed a mosaic 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization showed that the marker chromosome originated from the X chromosome within the androgen receptor (AR) and X-inactive specific transcript (XIST) genes. Therefore, it is possible that aberrant activation of the marker chromosome, compromising the AR and XIST genes, may modify the Turner syndrome phenotype.

  19. Serum immunoglobulin M, G, and A concentration levels in Turner's syndrome compared with normal women and men.

    PubMed

    Jensen, K; Petersen, P H; Nielsen, E L; Dahl, G; Nielsen, J

    1976-03-12

    Serum concentrations of immunoglobulin G (IgG), immunoglobulin M (IgM) and immunoglobulin A (IgA) were determined in 15 women with a lack of X chromsome material (Turner's syndrome), and compared with the immunoglobulin concentrations in normal men and women. Further, the investigation is supplemented by a comparison of normal women and the Turner group matched according to age. The serum concentrations of IgG and IgA in women with Turner's syndrome were very close to the concentration in serum from normal men, whereas the concentration of IgM was significantly lower. Compared to normal women the concentrations of IgG and IgM were significantly lower, and the concentration of IgA significantly higher in the Turner group. Whether these differences in serum immunoglobulins are determined by hormonal factors or under direct genetic control linked to the X chromosomes, is discussed.

  20. [Rapidly progressive puberty in a patient with mosaic Turner syndrome: a case report and literature review].

    PubMed

    Liang, Y; Wei, H; Yu, X; Huang, W; Luo, X P

    2017-02-02

    Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr. 2016 were retrieved at PubMed and CNKI databases by the use of the key words "Turner syndrome" , "precocious puberty" and "rapidly progressive puberty" . Result: The patient was born at term with birth weight of 2 450 g and was diagnosed with SGA at 3 years of age for the first evaluating of growth and development. Then recombined human growth hormone (rhGH )was given at 4 years of age due to short stature (height<3 percentile) and low growth velocity(<5.0 cm/year) as well. However, rhGH treatment was discontinued after 9 months because of economic burdens. Breast development was noted at 9 years and 3 months. The patient was followed up at 3 months intervals. Physical examination revealed a Tanner stage Ⅲ breast development at 10.33 years , the bone age was 11.6 years. Then, gonadotropin-releasing hormone analogs treatment was added to slow pubertal progression and to preserve maximum adult height. The growth rate decreased with therapy from 7.5 cm/year to 4.4 cm/year. The patient was reevaluated, and the chromosome analysis of peripheral blood revealed a mosaic karyotype 45, X/46, X, del(X)(p21)(80%/ 20%). To date, only 10 cases have been reported in the literature. Six of them showing mosaic TS, three karyotypes with structural abnormality of short arm of X chromosome, one with the karyotype 45, X. Conclusion: It is the first time that rapidly progressive puberty in a 45, X/46, X, del(X)(p21

  1. The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

    PubMed

    Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

    2015-07-01

    Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.

  2. Unusual Parsonage-Turner syndrome with relapses and bilateral simultaneous anterior interosseous neuropathy.

    PubMed

    Squintani, Giovanna; Mezzina, Corrado; Lettieri, Christian; Critelli, Adriana; Eleopra, Roberto

    2009-12-01

    We report an unusual case of Parsonage-Turner syndrome with relapses and simultaneous bilateral anterior interosseous neuropathy (AIN). A 66-year-old man, after a typical right brachial amyotrophic neuralgia few months previously, underwent surgery for left carpal tunnel syndrome. The day following surgery, wrist aching and bilateral weakness, even if prevalent on the right side, on thumb and index finger flexion appeared. Neurophysiology was consistent with bilateral AIN neuropathy and serology revealed anti-nucleus antibody positivity. Association of relapses with bilateral acute AIN involvement in the subject with autoantibody detection can suggest an immunological pathogenesis.

  3. A case report of severe panhypopituitarism in a newborn delivered by a women with Turner syndrome.

    PubMed

    Olszewska, Marta; Kiełbasa, Grzegorz; Wójcik, Małgorzata; Zygmunt-Górska, Agata; Starzyk, Jerzy B

    2015-01-01

    Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes resulting in gonadal dysgenesis. Spontaneous pregnancies occur in 2-8% of patients, especially with mosaic kariotypes, however they are associated with increased risk of poor outcome both for mother and fetus. We report a 4-day-old male infant delivered by women with mosaic TS who was admitted to the pediatric intensive care unit and presented with severe panhypopituitarism as the early manifestation of pituitary stalk interruption syndrome (PSIS). To the best of our knowledge this is the first report of severe panhypopituitarism in a newborn borne by women with TS.

  4. Risk of solid tumors and hematological malignancy in persons with Turner and Klinefelter syndromes: A national cohort study.

    PubMed

    Ji, Jianguang; Zöller, Bengt; Sundquist, Jan; Sundquist, Kristina

    2016-08-15

    The risk of solid and hematological malignancy in patients with Turner syndrome, characterized by X chromosome monosomy in women, and Klinefelter syndrome, characterized with two and more X chromosomes in men, is not well established, but such evidence may have etiological implications on cancer development. We identified a total of 1,409 women with Turner syndrome and 1,085 men with Klinefelter syndrome from the Swedish Hospital Discharge and Outpatient Register. These individuals were further linked to the Swedish Cancer Register to examine the standardized incidence ratios (SIRs) of cancer using the general population without Turner and Klinefelter syndromes as reference. The overall risk of cancer was 1.34 for women with Turner syndrome; it was increased only for solid tumors. For a specific type of tumor, the risk of melanoma and central nervous system tumor was significantly increased. For persons with Klinefelter syndrome, the risk of solid tumors was decreased (SIR = 0.66), whereas the risk of hematological malignancy was increased (SIR = 2.72). Non-Hodgkin lymphoma and leukemia showed an increased SIR of 3.02 and 3.62, respectively. Our study supported the hypothesis that X chromosome plays an important role in the etiology of solid tumors. The underlying mechanisms for the increased incidence of non-Hodgkin lymphoma and leukemia in persons with Klinefelter syndrome need to be investigated further.

  5. [Stimulation test of the adenohypophysis with arginine, gonadotropin-releasing hormone (GRH), and thyrotropin-releasing hormone (TRH) in 45, XO patients with Turner's syndrome (author's transl)].

    PubMed

    Rudolf, K; Kyank, H; Göretzlehner, G; Kunkel, S

    1980-01-01

    Pituitary stimulation tests with arginine, gonadotropin-releasing hormone (GRH) and thyrotropin-releasing hormone (TRH) were performed in five 45, XO patients with Turner's syndrome. Their ages ranged from 12--17 years. Serum levels of LH, FSH, PRL, HGH, and TSH were measured by RIA. The hypothalamo-pituitary system appeared normal in the patients with Turner's syndrome.

  6. Effectiveness of laparoscopic gonadectomy using abdominal wall lift method on Turner's syndrome patients with 45, X/46, XY mosaicism.

    PubMed

    Nakano, H; Kawashima, M; Okada, S; Igarashi, T; Nakata, M; Ogino, M

    2001-04-01

    We present a Turner's syndrome patient with a 45, X/46, XY mosaicism who underwent a prophylactic laparoscopic gonadectomy using the abdominal wall lift method. The patient was a 14-year-old phenotypic girl who was referred for an examination of primary amenorrhea. She had already been found to have Turner's syndrome with 45, X/46, XY mosaicism. After an extensive discussion with the patient and her family regarding her high risk for developing a gonadoblastoma, a laparoscopic bilateral salpingo-oophorectomy using the abdominal wall-life method was performed. Laparoscopy using the abdominal wall lift method has an advantage over CO2 pneumoperitoneum method for patients with Turner's syndrome when it is difficult to intubate because of a webbed neck or a shortened trachea.

  7. Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion.

    PubMed

    Parveen, Shagufta; Panicker, M M; Gupta, Pawan Kumar

    2017-03-01

    A major cause of spontaneous abortions is chromosomal abnormality of foetal cells. We report the generation of an induced pluripotent stem cell line from the fibroblasts isolated from chorionic villi of an early spontaneously aborted foetus with Turner syndrome. The Turner syndrome villus induced pluripotent stem cell line is transgene free, retains the original XO karyotype, expresses pluripotency markers and undergoes trilineage differentiation. This pluripotent stem cell model of Turner syndrome should serve as a tool to study the developmental abnormalities of foetus and placenta that lead to early embryo lethality and profound symptoms like infertility in 45 XO survivors. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  8. A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

    PubMed Central

    2009-01-01

    Background Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar. Results Here we report the first case of an sSMC found in Turner syndrome karyotypes (sSMCT) derived from chromosome 14 in a Turner syndrome patient. According to cytogenetic and molecular cytogenetic characterization the karyotype was 46,X,+del(14)(q11.1). The present case is the third Turner syndrome case with an sSMCT not derived from the X- or the Y-chromosome. Conclusion More comprehensive characterization of such sSMCT might identify them to be more frequent than only ~0.6% in Turner syndrome cases according to available data. PMID:19909521

  9. Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.

    PubMed

    Grossi, Armando; Palma, Alessia; Zanni, Ginevra; Novelli, Antonio; Loddo, Sara; Cappa, Marco; Fierabracci, Alessandra

    2013-02-25

    Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients. We present a unique case of mosaic Turner syndrome with a complex rearrangement consisting of a partial deletion of chromosome 2q and duplication of chromosome 10p {[46],XX,der(2)t(2;10)(2pter→2q37::10p13→10pter)[127]/45,X,der(2)t(2;10)(2pter→2q37::10p13→10pter)[23]}. The patient is affected by partial empty sella, in association with a group of multiorgan autoimmunity-related manifestations including Hashimoto's thyroiditis, celiac disease, insulin-dependent diabetes mellitus (Type 1 diabetes, T1D), possible autoimmune inner ear disease with sensorineural deficit, preclinical Addison disease and alopecia universalis. The patient was previously described at the age of 2.4 years and now re-evaluated at the age of 14 years after she developed autoimmune conditions. AIRE gene screening revealed heterozygous c.834 C>G polymorphism (p.Ser278Arg) and IVS9+6G>A variation, thus likely excluding autoimmune polyendocrine syndrome Type 1 (APECED). Heterozygous R620W polymorphism of the protein tyrosine phosphatase non receptor type 22 (PTPN22) gene was detected in patient's DNA. SNP-array analysis revealed that autoimmunity-related genes could be affected by the partial monosomy 2q and trisomy 10p. These data suggest that early genetic analysis in TS patients with complex associations of multiorgan autoimmune manifestations would permit a precise diagnostic classification and also be an indicator for undiscovered pathogenetic mechanisms.

  10. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome.

    PubMed

    Araújo, A; Ramos, E S

    2008-05-01

    The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR. Genomic DNA was extracted from peripheral blood and screened by the human androgen receptor (HUMARA) assay. The HUMARA gene has a polymorphic CAG repeat and, in the presence of a second chromosome with a different HUMARA allele, a second band will be amplified by PCR. Additionally, the CAG repeats contain two methylation-sensitive HpaII enzyme restriction sites, which can be used to verify skewed inactivation. Twenty-five percent (9/36) of the cases showed a cryptic mosaicism involving a second X and approximately 14% (5/36), or 55% (5/9) of the patients with cryptic mosaicism, also presented skewed inactivation. The laboratory identification of the second X chromosome and its inactivation pattern are important for the clinical management (hormone replacement therapy, and inclusion in an oocyte donation program) and prognostic counseling of patients with Turner syndrome.

  11. Numerical magnitude processing impairments in genetic syndromes: a cross-syndrome comparison of Turner and 22q11.2 deletion syndromes.

    PubMed

    Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

    2016-10-17

    Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion syndrome (22q11DS). We further verified whether the phenotypic outcomes of these syndromes emerged from the same or different cognitive processes and therefore examined whether numerical impairments were related to working memory deficits, often observed in these syndromes. Participants were 24 girls with Turner syndrome, 25 children with 22q11DS and 48 well-matched typically developing control children. All children completed a symbolic numerical magnitude comparison task and four additional working memory tasks. Both groups of children with genetic syndromes showed similar impairments in symbolic numerical magnitude processing compared to typically developing controls. Importantly, in Turner syndrome, group differences in symbolic numerical magnitude processing disappeared when their difficulties in visual-spatial working memory were taken into account. In contrast, the difficulties in 22q11DS were not explained by poor visual-spatial working memory. These data suggest that different factors underlie the symbolic numerical magnitude processing impairments in both patient groups with mathematical learning disabilities and highlight the value of cross-syndrome comparisons for understanding different pathways to mathematical learning disabilities or dyscalculia.

  12. Major depressive disorder in an adolescent with Turner syndrome: a case report.

    PubMed

    Mao, Shujiong; Sun, Liying; Li, Rong; Zhao, Zhengyan; Yang, Rongwang

    2016-01-01

    Turner syndrome (TS) is a chromosomal abnormality, of which the presence and impact of coexisting psychiatric morbidity has received little attention. The present report describes an adolescent with mosaic karyotype TS who had major depressive disorder with the predisposing cause of psychosocial burden, and relieved with the treatment of sertraline and complete remission with combined use of estradiol valerate. The report suggests us to pay more attention on the mood disorders in children with TS, especially in adolescents. For treatment aspect, medications for improving the puberty development and short stature should be added to in addition to antidepressants if they had mood disorders.

  13. Mechanisms of enhanced osteoclastogenesis in girls and young women with Turner's Syndrome.

    PubMed

    Faienza, Maria Felicia; Brunetti, Giacomina; Ventura, Annamaria; Piacente, Laura; Messina, Maria Francesca; De Luca, Filippo; Ciccarelli, Maria; Oranger, Angela; Mori, Giorgio; Natale, Maria Pia; Gigante, Margherita; Ranieri, Elena; Gesualdo, Loreto; Colucci, Silvia; Cavallo, Luciano; Grano, Maria

    2015-12-01

    Subjects with hypergonadotropic hypogonadism due to Turner's syndrome show low cortical mineral density, osteoporosis and risk of fractures. It is not clear if this bone fragility derives from chromosomal abnormalities or is the result of inadequate bone formation due to estrogen deficiency. The aim of this study was to investigate the cellular mechanisms underlying bone fragility in subjects with Turner's syndrome before induction of puberty and after hormonal replacement therapy (HRT). For this purpose, we have evaluated the osteoclastogenic potential of non-fractioned and T-cell depleted cultures of peripheral blood mononuclear cells (PBMCs) belonging to girls with Turner's syndrome who had not been treated with HRT yet, girls and young women who were on HRT and age-matched controls. Untreated subjects showed high FSH serum levels, whereas the other subjects displayed normal FSH serum levels. T-cell immunophenotype was analyzed through flow cytometry. Biochemical and DXA analyses were performed. Spontaneous osteoclastogenesis in non-fractioned and T-cell depleted cultures of PBMC belonging to girls with high FSH levels was more evident than in cultures of subjects with normal FSH levels. In the former, osteoclastogenesis was sustained by monocytes expressing high levels of c-fms, TNF-α and RANK, and T-cells producing high RANKL and TNF-α; in the latter it was supported by T-cells expressing high RANKL levels. CD4(+)CD25(high) T-cells were reduced in all subjects, whereas CD3(+)/CD16(+)/CD56(+) NKT-cells were increased in those with high FSH levels. High RANKL and CTX levels were detected in the sera. Bone impairment was already detectable by DXA in subjects aged under 10, although it became more evident with aging. In conclusion, our results demonstrated that bone fragility in subjects with Turner's syndrome is associated to enhanced osteoclastogenesis. This process seems to be due to high FSH serum levels before HRT, whereas it is caused by high RANKL during

  14. Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

    PubMed Central

    2012-01-01

    Background Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in NIPBL gene account for about 60% of patients with CdLS. This gene encodes a key regulator of the Cohesin complex, which controls sister chromatid segregation during both mitosis and meiosis. Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, short stature, and gonadal dysgenesis. Case presentation Here we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBL gene (c.1445_1448delGAGA), who also had a tissue-specific mosaic 45,X/46,XX karyotype. The patient showed a severe form of CdLS with craniofacial dysmorphism, pre- and post-natal growth delay, cardiovascular abnormalities, hirsutism and severe psychomotor retardation with behavioural problems. She also presented with minor clinical features consistent with TS, including peripheral lymphedema and webbed neck. The NIPBL mutation was present in the two tissues analysed from different embryonic origins (peripheral blood lymphocytes and oral mucosa epithelial cells). However, the percentage of cells with monosomy X was low and variable in tissues. These findings indicate that, ontogenically, the NIPBL mutation may have appeared before the mosaic monosomy X. Conclusions The coexistence in several patients of these two rare disorders raises the issue of whether there is indeed a cause-effect association. The detailed clinical descriptions indicate predominant CdLS phenotype, although additional TS manifestations may appear in adolescence. PMID:22676896

  15. Cryopreservation of ovarian tissue and in vitro matured oocytes in a female with mosaic Turner syndrome: Case Report.

    PubMed

    Huang, J Y J; Tulandi, T; Holzer, H; Lau, N M; Macdonald, S; Tan, S L; Chian, R C

    2008-02-01

    We report a novel approach of fertility preservation in a young woman with mosaic Turner syndrome. A 16-year-old female with 20% 45XO and 80% 46XX karyotype underwent laparoscopic ovarian wedge resection. Before performing ovarian tissue cryopreservation, all visible follicles on the ovarian surface were aspirated. We recovered 11 immature germinal vesicle stage oocytes, which were subjected to in vitro maturation (IVM). Eight oocytes that matured (73% maturation rate) were cryopreserved by vitrification. The combination of ovarian tissue cryobanking and immature oocyte collection from the tissue followed by IVM and vitrification of matured oocytes represent a promising approach of fertility preservation for young women with mosaic Turner syndrome.

  16. [Ocular symptoms in a family with pseudo-Ullrich-Turner syndrome].

    PubMed

    Förster, W; Lenz, W; Busse, H

    1991-11-01

    We report on a family with some features of the Pseudo-Ullrich-Turner-Syndrome, so-called Noonan-Syndrome. Besides low-set ears, microgenia, short neck, pterygium colli, low-anterior hair line and small stature as well as partial scoliosis, partial cubitus valgus and camptodactylia, retinal detachment, disturbances of the eye motility, keratoconus, unilateral ptosis and antimongoloid slant of the palpebral fissures in different expression are described. The caryotype was normal. Some of the features can be seen within at least 2 generations of the family. It seems to be an autosomal genetic mode of transmission. Differences and common characteristics in comparison to the literature are shown. Differential diagnostic aspects are described. A definite relation to a syndrome already described is not possible.

  17. [Frequency of prevalence of Turner syndrome in fetuses of patients referred to genetic amniocentesis in 2007-2011].

    PubMed

    Chuchracki, Marek; Szczepaniak, Aleksandra; Sedziak, Anna; Ziółkowska, Katarzyna; Opala, Tomasz

    2012-01-01

    Turner syndrome is a genetic diseases caused by an aberration of sex chromosomes. It is conditioned by structural and/or quantitative aberration of one of the two X chromosomes, with frequent presence of mosaicism in cells. Since there are a few types of the syndrome, its diagnosis is often difficult and, as a consequence, a lot of people live without knowing of their disease. It is only during puberty that symptoms occur, or when full maturity begins it possible to diagnose the disease and start treatment. Genetic amniocentesis is a method thanks to which a material for cytogenetic test is obtained. The method involves puncturing amniotic sac and aspiration of fluid under the control of ultrasound for diagnostic purposes. Microscopic analysis of the chromosomes makes it possible to recognize aberration of one chromosome X which indicates Tuner syndrome phenotype. The objective of the study was the analysis of the frequency of prevalence of Turner syndrome in the patients' fetuses referred for genetic amniocentesis in 2007-2011. The most frequent cause of Turner syndrome in girls is missing one of two chromosomes X. the analysis shows that in 1815 tests Turner syndrome was confirmed in 46 cases which constitutes 2.5%. It is mostly young women, aged 25-29 that are at risk of having a child with this aberration. Indications which were later confirmed by the cases of fetuses with this syndrome included fetal hydrops, cystic hygroma and abnormalities in ultrasound image. In case of indications such as genetic defects in the family, incorrect result of triple test are not confirmed by Turner syndrome.

  18. Y chromosome--specific DNA sequences in Turner-syndrome mosaicism.

    PubMed Central

    Gemmill, R M; Pearce-Birge, L; Bixenman, H; Hecht, B K; Allanson, J E

    1987-01-01

    Phenotypic females with Y-chromosomal material in their genome have an increased risk for development of gonadal malignancy. The detection and identification of Y-chromosomal material in these cases can be of critical importance for medical management. Chromosome analysis in four patients with Turner syndrome revealed the characteristic 45,X chromosome complement together with a second cell population containing a small marker chromosome (46,X, + mar). Molecular-hybridization analyses utilizing cloned, Y chromosome-specific DNA sequences were performed to determine whether Y-chromosomal material was present in each patient. Three cases contained some Y chromosome-specific sequences, whereas one case was negative with all four probes that we used. These results were compared with detailed cytogenetic studies--including G-, Q-, and G-11-banding--of the marker chromosomes. In one case in which Y chromosome-specific DNA sequences were demonstrated, the marker chromosome was G-11 negative. These results demonstrate that cytogenetic analysis alone can lead to misidentification of some Y chromosome-derived markers. The combination of cytogenetic and molecular analyses permits a more accurate characterization of anomalous Y chromosomes and in turn provides additional information that can be crucial to the correct medical management of Turner-syndrome patients. Images Fig. 2 Fig. 3 PMID:3475977

  19. Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

    PubMed Central

    Tanaka, Toshiaki; Igarashi, Yutaka; Ozono, Keiichi; Ohyama, Kenji; Ogawa, Masamichi; Osada, Hisao; Onigata, Kazumichi; Kanzaki, Susumu; Kohno, Hitoshi; Seino, Yoshiki; Takahashi, Hiroaki; Tajima, Toshihiro; Tachibana, Katsuhiko; Tanaka, Hiroyuki; Nishi, Yoshikazu; Hasegawa, Tomonobu; Fujita, Keinosuke; Yorifuji, Tohru; Horikawa, Reiko; Yokoya, Susumu

    2015-01-01

    Abstract. The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatment course. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group). Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, and spontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breast development was significantly lower in patients with the 45,X karyotype and significantly higher in patients with a structural abnormality of the second X chromosome. The frequency of spontaneous menarche was significantly higher in patients with mosaicism characterized by X monosomy and a cellular line with no structural abnormality of the X chromosome. No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty. PMID:26568657

  20. Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous.

    PubMed

    Shahriari, Mahdi; Bazrafshan, Asghar; Moghadam, Mohamad; Karimi, Mehran

    2016-04-01

    A 6-month-old girl was referred by an ophthalmologist because of postoperative bleeding. She was scheduled for operation because of persistent hyperplastic primary vitreous. Workups were done and prolonged partial thromboplastin time with normal platelet count, normal bleeding time, and prothrombin time were detected. There was negative family history of bleeding tendency in both maternal and paternal family, so at the first step, Factor XI assay was requested which was normal. Then, von Willebrand factor and factor VIII were assayed which was 127% and less than 1%, respectively. Severe factor VIII deficiency was not suspected in a girl unless in siblings of a hemophilic patient who gets married with her carrier cousin. Chromosomal study and genetic testing were requested and mosaic Turner syndrome (45 XO) with ring X (p22, 2q13) along with inversion 22 (hemizygote) was detected. Abdominal and pelvic sonography showed absence of both ovaries with presence of infantile uterus. Maternal genetic study was in favor of carrier of hemophilia (heterozygote inversion 22). To the best of our knowledge, this is the first case of association of Turner syndrome with severe hemophilia A and persistent hyperplastic primary vitreous.

  1. Improving self-esteem in women diagnosed with Turner syndrome: results of a pilot intervention.

    PubMed

    Chadwick, Paul M; Smyth, Arlene; Liao, Lih-Mei

    2014-06-01

    To evaluate a brief intervention to improve the self esteem of women diagnosed with Turner syndrome (TS). Prospective observational study. Turner Syndrome Support Society, UK. 30 women aged 18-60 years. A 1-day psychology workshop targeting problems of self-esteem in women diagnosed with TS. The workshop drew on cognitive-behavioral therapy and narrative therapy skills and emphasized increased self-awareness of interpersonal difficulties and improved capacity for self-management. Rosenberg Self-esteem Scale (RSS); Hospital Anxiety and Depression Scale (HADS); bespoke user experiences questionnaire. All 30 women provided baseline data, 27/30 provided immediate post-intervention data and 22/30 provided follow-up data at 3 months. The intervention improved RSS and HADS scores at 3 months. Generic skills-based psychological interventions have the potential to be adapted to provide brief and low-cost interventions to improve self-esteem and reduce psychological distress in women diagnosed with TS. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  2. Overlap syndromes of autoimmune hepatitis: an open question.

    PubMed

    Durazzo, Marilena; Premoli, Alberto; Paschetta, Elena; Belci, Paola; Spandre, Maurizio; Bo, Simona

    2013-02-01

    The headword "overlap syndromes" of liver diseases includes the coexistence of autoimmune hepatitis, primary biliary cirrhosis, and primary sclerosing cholangitis. These syndromes often represent a diagnostic and therapeutic challenge for hepatologists; it remains unclear whether these overlap syndromes form distinct entities or they are only variants of the major autoimmune liver diseases. The most frequent reported association occurs between autoimmune hepatitis and primary biliary cirrhosis, whereas the overlap between autoimmune hepatitis and primary sclerosing cholangitis is less frequent, typically at young age and often attendant with an inflammatory bowel disease. The choice therapy is based on ursodeoxycholic acid and immunosuppressive drugs, used at the same time or consecutively, according to the course of disease. The diagnostic scores for autoimmune hepatitis can help for diagnosis, even though their definitive soundness is lacking.

  3. Cruveilhier-Baumgarten disease in a patient with Turner syndrome: case report of a rare indication for liver transplantation.

    PubMed

    Aucejo, Federico; Ibrahim, Zuhaib; Hashimoto, Koji; Quintini, Cristiano; Kelly, Dympna; Vogt, David; Eghtesad, Bijan; Fung, John; Miller, Charles; Tuthill, Ralph

    2008-03-01

    Some chromosomal alterations can be associated with vascular abnormalities. For instance, Turner syndrome can be complicated by agenesis or hypoplasia of the portal venous system causing presinusoidal portal hypertension. Liver transplantation to treat this condition overcomes portal hypertension and reconstitutes the diminished hepatic function due to severe atrophy of the portal venous inflow.

  4. A Case of High-grade Transitional Cell Carcinoma of the Bladder in a Pediatric Patient With Turner Syndrome.

    PubMed

    Aguiar, Liza; Danialan, Richard; Kim, Christina

    2015-06-01

    Transitional cell carcinoma is a rare entity in children, especially in the first decade of life. The majority of these tumors are of low grade and noninvasive. We report an interesting case of a high-grade superficial transitional cell carcinoma in a 3-year-old girl with Turner syndrome.

  5. Prediction of aortic dilation in Turner syndrome--the use of serial cardiovascular magnetic resonance.

    PubMed

    Mortensen, Kristian H; Erlandsen, Mogens; Andersen, Niels H; Gravholt, Claus H

    2013-06-06

    Identification of the subset females with Turner syndrome who face especially high risk of aortic dissection is difficult, and more optimal risk assessment is pivotal in order to improve outcomes. This study aimed to provide comprehensive, dynamic mathematical models of aortic disease in Turner syndrome by use of cardiovascular magnetic resonance (CMR). A prospective framework of long-term aortic follow-up was used, which comprised diameters of the thoracic aorta prospectively assessed at nine positions by CMR at the three points in time (baseline [n = 102, age 38 ± 11 years], follow-up [after 2.4 ± 0.4 years, n = 80] and end-of-study [after 4.8 ± 0.5 years, n = 78]). Mathematical models were created that cohesively integrated all measurements at all positions, from all visits and for all participants, and using these models cohesive risk factor analyses were conducted based on which predictive modeling was performed on which predictive modelling was performed. The cohesive models showed that the variables with effect on aortic diameter were aortic coarctation (P < 0.0001), bicuspid aortic valves (P < 0.0001), age (P < 0.0001), diastolic blood pressure (P = 0.0008), body surface area (P = 0.015) and antihypertensive treatment (P = 0.005). Oestrogen replacement therapy had an effect of borderline significance (P = 0.08). From these data, mathematical models were created that enabled preemption of aortic dilation from CMR derived aortic diameters in scenarios both with and without known risk factors. The fit of the models to the actual data was good. The presented cohesive model for prediction of aortic diameter in Turner syndrome could help identifying females with rapid growth of aortic diameter, and may enhance clinical decision-making based on serial CMR.

  6. Prediction of aortic dilation in Turner syndrome - enhancing the use of serial cardiovascular magnetic resonance

    PubMed Central

    2013-01-01

    Background Identification of the subset females with Turner syndrome who face especially high risk of aortic dissection is difficult, and more optimal risk assessment is pivotal in order to improve outcomes. This study aimed to provide comprehensive, dynamic mathematical models of aortic disease in Turner syndrome by use of cardiovascular magnetic resonance (CMR). Methods A prospective framework of long-term aortic follow-up was used, which comprised diameters of the thoracic aorta prospectively assessed at nine positions by CMR at the three points in time (baseline [n = 102, age 38 ± 11 years], follow-up [after 2.4 ± 0.4 years, n = 80] and end-of-study [after 4.8 ± 0.5 years, n = 78]). Mathematical models were created that cohesively integrated all measurements at all positions, from all visits and for all participants, and using these models cohesive risk factor analyses were conducted based on which predictive modeling was performed on which predictive modelling was performed. Results The cohesive models showed that the variables with effect on aortic diameter were aortic coarctation (P < 0.0001), bicuspid aortic valves (P < 0.0001), age (P < 0.0001), diastolic blood pressure (P = 0.0008), body surface area (P = 0.015) and antihypertensive treatment (P = 0.005). Oestrogen replacement therapy had an effect of borderline significance (P = 0.08). From these data, mathematical models were created that enabled preemption of aortic dilation from CMR derived aortic diameters in scenarios both with and without known risk factors. The fit of the models to the actual data was good. Conclusion The presented cohesive model for prediction of aortic diameter in Turner syndrome could help identifying females with rapid growth of aortic diameter, and may enhance clinical decision-making based on serial CMR. PMID:23742092

  7. Aortic dissection and rupture in a 16-year-old girl with Turner syndrome following previous progression of aortic dilation.

    PubMed

    Pleskacova, Jana; Rucklova, Kristina; Popelova, Jana; Cerny, Stepan; Syrucek, Martin; Snajderova, Marta; Lebl, Jan

    2010-10-01

    Aortic dissection occurs in Turner syndrome with substantially higher frequency in comparison to the general population, and its prevention is one of the main aims of cardiologic follow-up. Findings of cystic medial necrosis in the aortic wall and a high prevalence of aortic dilation suggest that a form of aortopathy exists in Turner syndrome. However, little is known about natural development of aortic dilation prior to dissection. We present a 16-year-old girl with Turner syndrome with a bicuspid aortic valve, aortic stenosis, and dilation of ascending aorta, who underwent annual echocardiographic examinations from early childhood. Significant progressions of proximal aortic dilation occurred twice at the age of 10 and 15 years. Thereafter, another rapid progression was observed during 8 months and within 3 weeks preceding dissection. Acute aortic dissection was diagnosed while the girl was waiting for elective surgery. She was successfully operated. Frequent estimations of aortic diameter in Turner patients with abnormal findings may help to anticipate this life-threatening event. Additionally, we learned that rapid progression of aortic dilation should lead to immediate surgery to prevent more risky urgent intervention following the dissection.

  8. White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging.

    PubMed

    Villalon-Reina, Julio; Jahanshad, Neda; Beaton, Elliott; Toga, Arthur W; Thompson, Paul M; Simon, Tony J

    2013-11-01

    Children with chromosome 22q11.2 deletion syndrome (22q11.2DS), Fragile X syndrome (FXS), or Turner syndrome (TS) are considered to belong to distinct genetic groups, as each disorder is caused by separate genetic alterations. Even so, they have similar cognitive and behavioral dysfunctions, particularly in visuospatial and numerical abilities. To assess evidence for common underlying neural microstructural alterations, we set out to determine whether these groups have partially overlapping white matter abnormalities, relative to typically developing controls. We scanned 101 female children between 7 and 14years old: 25 with 22q11.2DS, 18 with FXS, 17 with TS, and 41 aged-matched controls using diffusion tensor imaging (DTI). Anisotropy and diffusivity measures were calculated and all brain scans were nonlinearly aligned to population and site-specific templates. We performed voxel-based statistical comparisons of the DTI-derived metrics between each disease group and the controls, while adjusting for age. Girls with 22q11.2DS showed lower fractional anisotropy (FA) than controls in the association fibers of the superior and inferior longitudinal fasciculi, the splenium of the corpus callosum, and the corticospinal tract. FA was abnormally lower in girls with FXS in the posterior limbs of the internal capsule, posterior thalami, and precentral gyrus. Girls with TS had lower FA in the inferior longitudinal fasciculus, right internal capsule and left cerebellar peduncle. Partially overlapping neurodevelopmental anomalies were detected in all three neurogenetic disorders. Altered white matter integrity in the superior and inferior longitudinal fasciculi and thalamic to frontal tracts may contribute to the behavioral characteristics of all of these disorders.

  9. White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging

    PubMed Central

    Villalon, Julio; Jahanshad, Neda; Beaton, Elliott; Toga, Arthur W.; Thompson, Paul M.; Simon, Tony J.

    2014-01-01

    Children with chromosome 22q11.2 Deletion Syndrome (22q11.2DS), Fragile X Syndrome (FXS), or Turner Syndrome (TS) are considered to belong to distinct genetic groups, as each disorder is caused by separate genetic alterations. Even so, they have similar cognitive and behavioral dysfunctions, particularly in visuospatial and numerical abilities. To assess evidence for common underlying neural microstructural alterations, we set out to determine whether these groups have partially overlapping white matter abnormalities, relative to typically developing controls. We scanned 101 female children between 7 and 14 years old: 25 with 22q11.2DS, 18 with FXS, 17 with TS, and 41 aged-matched controls using diffusion tensor imaging (DTI). Anisotropy and diffusivity measures were calculated and all brain scans were nonlinearly aligned to population and site-specific templates. We performed voxel-based statistical comparisons of the DTI-derived metrics between each disease group and the controls, while adjusting for age. Girls with 22q11.2DS showed lower fractional anisotropy (FA) than controls in the association fibers of the superior and inferior longitudinal fasciculi, the splenium of the corpus callosum, and the corticospinal tract. FA was abnormally lower in girls with FXS in the posterior limbs of the internal capsule, posterior thalami, and precentral gyrus. Girls with TS had lower FA in the inferior longitudinal fasciculus, right internal capsule and left cerebellar peduncle. Partially overlapping neurodevelopmental anomalies were detected in all three neurogenetic disorders. Altered white matter integrity in the superior and inferior longitudinal fasciculi and thalamic to frontal tracts may contribute to the behavioral characteristics of all of these disorders. PMID:23602925

  10. Turner syndrome

    MedlinePlus

    ... not have the usual pair of 2 X chromosomes. ... The typical amount of human chromosomes is 46. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the ...

  11. Turner Syndrome

    MedlinePlus

    ... researchers Data Sharing and Other Resources Scientific databases, models, datasets & repositories Research Research networks, center programs, career development programs Grants & Funding About ...

  12. Prevalence of primary biliary cirrhosis-autoimmune hepatitis overlap syndrome.

    PubMed

    Bonder, Alan; Retana, Alexandra; Winston, Diana M; Leung, John; Kaplan, Marshall M

    2011-07-01

    The prevalence of and the most appropriate way to diagnose the primary biliary cirrhosis (PBC)-chronic autoimmune hepatitis (AIH) overlap syndrome are uncertain. We investigated the prevalence of PBC and AIH and their level of overlap at a tertiary referral center, along with clinical, biochemical, and serologic characteristics. We reviewed data from all patients with PBC (n = 609) and/or AIH (n = 15) examined at the Tufts Medical Center (Boston, MA) from January 1, 2000, to June 20, 2006. PBC was diagnosed based on 2 of the following 3 results: 6 months of positive results in tests for cholestatic liver enzymes, a positive result in a test for antimitochondrial antibodies, or a liver biopsy that indicated PBC. AIH was defined as an alanine aminotransferase level of 200 U/L or greater (≥ 5-fold above normal), a liver biopsy that indicated severe interface hepatitis, and levels of immunoglobulin G 2-fold or greater than that of normal. Only 6 patients with PBC (1%) met the Paris criteria for the overlap syndrome. If we included 9 patients with PBC who did not meet the Paris criteria, but had results from liver enzyme tests and liver biopsy analyses that indicated improvement after treatment with prednisone, the prevalence was 15 (2.8%). This is at the low end of previously reported prevalence values for overlap of PBC and AIH (2%-20%). The prevalence of the PBC-AIH overlap syndrome varies among medical centers. We propose that if the definition of PBC-AIH overlap syndrome be modified to include patients with unequivocal responses to prednisone despite not meeting the Paris criteria, this would improve treatment of patients. Copyright © 2011 AGA Institute. Published by Elsevier Inc. All rights reserved.

  13. Brachioradial pruritus in a patient with cervical disc herniation and Parsonage-Turner syndrome*

    PubMed Central

    Carvalho, Sandrina; Sanches, Madalena; Alves, Rosário; Selores, Manuela

    2015-01-01

    Brachioradial pruritus is a chronic sensory neuropathy of unknown etiology which affects the skin of the shoulders, arms and forearms on the insertion of the brachioradialis muscle. We describe the case of a 60-yearold woman recently diagnosed with multiple myeloma who refers paresis, severe pruritus and itching lesions on the right arm with 6 months of evolution. Investigation led to a diagnosis of Brachioradial pruritus consequent to the presence of cervical disc herniation and Parsonage-Turner syndrome. The patient started gabapentin 900mg/day with good control of itching. Corticosteroids and antihistamines are often ineffective in the treatment of BP. Gabapentin has been used with encouraging results. All patients with Brachioradial pruritus should be evaluated for cervical spine injuries. PMID:26131874

  14. Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome.

    PubMed

    Morales-Demori, Raysa

    2017-07-24

    Congenital heart disease (CHD) is present in approximately 50% of patients with trisomy 21 (T21) and Turner syndrome (TS). According to the American Academy of Pediatrics, every patient with these genetic disorders should have a postnatal echocardiogram. T21 is usually associated with atrioventricular (30%-60%), atrial (16%-21%), or ventricular septal defects (14%-27%). TS is usually associated with left-sided heart disease. However, the spectrum of CHD in these genetic disorders is wider than those mentioned lesions. More cardiac surgical procedures are offered to these patients and that has influenced positively their life expectancy for some CHD conditions. Single ventricular anatomy is associated with high mortality in these genetic disorders (49% in T21 and 83%-91% in TS). The goal of this article is to describe the spectrum of CHD, screening guidelines, and cardiac surgical outcomes in patients with T21 or TS with CHD. © 2017 Wiley Periodicals, Inc.

  15. Interrupted aortic arch with isolated persistent left superior vena cava in patient with Turners syndrome

    PubMed Central

    Kattea, M. Obadah; Smettei, Osama A.; Kattea, Abdulrahman; Abazid, Rami M.

    2016-01-01

    We present a case of 13-year-old female with Turner syndrome (TS), who presented with unexplained lower limbs swelling and ejection systolic murmur at the left second intercostal space. Suspicion of mild aortic coarctation was made by echocardiography. Computed tomography angiography (CTA) showed a complete interruption of the aortic arch (IAA) below the left subclavian artery with persistent left superior vena cava (PLSVC) and absent right SVC, defined as an isolated PLSVC. The patient underwent successful surgical correction after unsuccessful trial of transcatheter stent placement. We present this case of asymptomatic IAA to draw attention to the importance of CTA in diagnosing such rare anomalies and ruling out asymptomatic major cardiovascular abnormalities in patient with TS. PMID:27843801

  16. PARSONAGE-TURNER SYNDROME: CASE REPORT OF A HIV-SEROPOSITIVE PATIENT

    PubMed Central

    Oliveira, Saulo Gomes de; Pombo, Eduardo Hosken; Batista, Priscila Rossi de; Cardoso, Igor Machado; Rezende, Rodrigo

    2015-01-01

    Parsonage-Turner Syndrome is a rare disease that affects the musculature of the scapular girdle, leading to muscle atrophy and large motor deficit. The etiology is uncertain, but it is believed that infectious and autoimmune factors are involved. The diagnosis is made by exclusion, and the main differential diagnoses are cervical disc hernias, rotator cuff injuries and rheumatic diseases. During diagnostic investigations, we perform laboratory tests, radiographs and MRI on the shoulders and cervical spine, with emphasis on electroneuromyography to help in making a definitive diagnosis. This case report is presented because it shows a disease that is rarely associated with HIV seropositivity and the importance of early diagnosis for better treatment of these patients. PMID:27022580

  17. A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus

    PubMed Central

    Korkmaz, Hüseyin Anıl; Özkan, Behzat; Hazan, Filiz; Büyükinan, Muammer; Çelik, Tanju

    2013-01-01

    Turner syndrome (TS) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex chromosome, or monosomy X. TS is associated with abnormalities in lymphatic and skeletal development, in growth, and in gonadal function. Cardiac and renal malformations and a number of specific cognitive findings may also be encountered in these patients. An increased risk for hypothyroidism, sensorineural hearing loss, hypertension, and other problems has also been reported. We present the case of a patient with TS accompanied by transient hypogammaglobulinaemia of infancy (THI) and central diabetes insipidus, which we believe is the first reported TS patient with these concomitant disorders. Conflict of interest:None declared. PMID:23419422

  18. Brachioradial pruritus in a patient with cervical disc herniation and Parsonage-Turner syndrome.

    PubMed

    Carvalho, Sandrina; Sanches, Madalena; Alves, Rosário; Selores, Manuela

    2015-01-01

    Brachioradial pruritus is a chronic sensory neuropathy of unknown etiology which affects the skin of the shoulders, arms and forearms on the insertion of the brachioradialis muscle. We describe the case of a 60-year old woman recently diagnosed with multiple myeloma who refers paresis, severe pruritus and itching lesions on the right arm with 6 months of evolution. Investigation led to a diagnosis of Brachioradial pruritus consequent to the presence of cervical disc herniation and Parsonage-Turner syndrome. The patient started gabapentin 900 mg/day with good control of itching. Corticosteroids and antihistamines are often ineffective in the treatment of BP. Gabapentin has been used with encouraging results. All patients with Brachioradial pruritus should be evaluated for cervical spine injuries.

  19. Spontaneous procreation in Turner syndrome: report of two pregnancies in the same patient.

    PubMed

    Alves, Cresio; Silva, Sheila F

    2012-04-01

    Spontaneous procreation in Turner syndrome (TS) is a rare condition, and repeated gestation is even rarer. We report two spontaneous and successful pregnancies (at the age of 25 and 28 y) in a patient with TS (karyotype: 45,X/47,XXX, in 30 metaphases). Births were by caesarean section due to fetal-pelvic disproportion. Both children, a boy and a girl, were born at full term, with normal physical exam and karyotype. Despite the elevated pregnancy risks associated with TS co-morbidities, this report presents two successful spontaneous pregnancies with normal children in a patient with TS diagnosis after her deliveries. Gynecologists and obstetricians should be aware of this possibility when evaluating women with unusual short stature or dysmorphic features in order to implement a more cautious prenatal care in those being diagnosed with TS.

  20. Small intestinal tubular adenoma in a pediatric patient with Turner syndrome.

    PubMed

    Tang, Wen-Juan; Huang, Ying; Chen, Lian; Zheng, Shan; Dong, Kui-Ran

    2013-04-07

    Turner syndrome (TS) is a female chromosomal disorder caused by the lack of an X chromosome. The loss of this chromosome may result in the deficiency of tumor-suppressive or DNA repair genes, leading to tumorigenesis. Recombinant human growth hormone (GH) has been popularly used for treatment in TS patients for growth promotion. Although treatment with GH has been correlated with precancerous and cancerous lesions in TS children, its associations with gastric or colonic tumors, especially ileal tubular adenomas, have not been reported frequently. We here report a case of a 16-year-old patient with TS and tubular adenoma of the small intestine. Whether the ileal adenoma was caused by TS itself or GH therapy was discussed.

  1. PARSONAGE-TURNER SYNDROME: CASE REPORT OF A HIV-SEROPOSITIVE PATIENT.

    PubMed

    Oliveira, Saulo Gomes de; Pombo, Eduardo Hosken; Batista, Priscila Rossi de; Cardoso, Igor Machado; Rezende, Rodrigo

    2010-01-01

    Parsonage-Turner Syndrome is a rare disease that affects the musculature of the scapular girdle, leading to muscle atrophy and large motor deficit. The etiology is uncertain, but it is believed that infectious and autoimmune factors are involved. The diagnosis is made by exclusion, and the main differential diagnoses are cervical disc hernias, rotator cuff injuries and rheumatic diseases. During diagnostic investigations, we perform laboratory tests, radiographs and MRI on the shoulders and cervical spine, with emphasis on electroneuromyography to help in making a definitive diagnosis. This case report is presented because it shows a disease that is rarely associated with HIV seropositivity and the importance of early diagnosis for better treatment of these patients.

  2. The processing of number scales beyond whole numbers in development: Dissociations in arithmetic in Turner's syndrome.

    PubMed

    Zougkou, Konstantina; Temple, Christine M

    2016-01-01

    The arithmetical skills in two children with Turner's syndrome (TS), each the focus of a case study, were analysed in whole numbers and other number scales that have not been systematically explored previously, fractions, decimals, percentages, and negative numbers. The intention was to identify the fractionation of arithmetical skills. The two girls with TS showed dissociations of arithmetical skill in the calculation system of whole numbers that support its modular organization. Fractionation of skills was observed in some components of the other number scales, suggesting an analogous organization within these scales. The operational specificity of impairment within number scales but not others argued against a unitary arithmetical system but rather for autonomous operational scales within distinct number scales. A general model of arithmetic is proposed.

  3. A process approach to describing mathematics difficulties in girls with Turner syndrome.

    PubMed

    Mazzocco, M M

    1998-08-01

    To expand on previous reports of mathematics difficulty in girls with Turner syndrome (TS). Mathematics performance was examined by evaluating the types of errors made on mathematics achievement subtests by 29 girls with TS, 26 girls with fragile X syndrome (another genetic condition associated with mathematics difficulty), and 41 girls with neither disorder. Correlations between mathematics achievement scores and measures of IQ, attention, and visuospatial skills were also examined. Relatively low mathematics achievement was evident in girls with TS before 10 years of age, and a higher percentage of girls with TS made operation (57%) and alignment (48%) errors on a mathematics calculations test than did girls with fragile X syndrome (19% and 14%, respectively). No group differences were found for procedural or multiplication table errors. Girls with TS attempted more "unfamiliar" problems than did girls with fragile X syndrome or girls in the comparison group. Mathematics achievement scores in girls with TS were positively correlated with Judgment of Line Orientation and Wechsler Intelligence Scale for Children-Revised Third Factor scores; these correlations differed from those in the other groups. The qualitative group differences observed further support the concept of specificity of the TS phenotype and illustrate the importance of a process approach to assessment.

  4. Influence of HLA genotype on birth weight of patients with Turner syndrome.

    PubMed

    Larizza, D; Martinetti, M; Pizzochero, C; Cuccia, M; Severi, F

    1992-02-01

    Growth failure starting before birth is a common characteristic in Turner syndrome, and its pathogenesis is still not completely explained. Experiments performed in mice and rats to test whether a genetic disparity between mothers and offspring and maternal immunological status have any influence on litter size have demonstrated that allogenic litters are significantly larger in size than genetically compatible ones. Studies in humans have given contrasting results, but some authors have found that heterozygosity at enzyme loci and in blood groups is positively correlated with intrauterine growth. HLA class I and II polymorphisms were defined in 53 patients with Turner syndrome and in their parents, and lymphocytotoxic antibody detection was performed in 36 mothers. These data were related to the patients' birth weight. The frequency of the HLA-B16 allele in patients with a birth weight greater than 10th centile was significantly higher in comparison with those less than 10th centile. HLA antigen sharing was present in 43 couples (81.1%). Mean birth weight was 2934 +/- 472 g in patients without HLA antigen parental sharing and 2721 +/- 529 g in those whose parents shared HLA antigens. The mean birth weight of the 10 patients whose parents do not share HLA antigens was significantly higher than that of the patients with parental HLA-B+ DR sharing (P less than 0.05) and not significantly highe than in those patients with parental HLA sharing at other HLA loci. Patients whose parents shared B+DR antigens also had significantly smaller birth weights than those with B and A+B+DR sharing (P less than 0.025 and P less than 0.025). No significant difference in mean birth weight was found in relation to other parameters, such as mother-child histocompatibility, HLA homozygosity and lymphocytotoxic production in the mothers.

  5. Clinical features of women with Turner syndrome experiencing transition period in Japan.

    PubMed

    Nishigaki, Satsuki; Hamazaki, Takashi; Tsuruhara, Akitoshi; Yoshida, Toshiko; Imamura, Takuji; Inada, Hiroshi; Fujita, Keinosuke; Shintaku, Haruo

    2017-05-30

    Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.

  6. Two-phase orthodontic treatment in a patient with turner syndrome: an unusual case of deep bite.

    PubMed

    Aristizábal, Juan Fernando; Smit, Rosana Martínez

    2015-05-01

    Turner syndrome is caused by complete or partial absence of one X chromosome. These patients usually have a delay in growth and altered body proportions, causing sexual infantilism, short stature, delayed bone maturation, and variations in craniofacial morphology, among other systemic complications. The skeletal features associated with this syndrome include maxillary growth reduction with midface hypoplasia; mandibular micrognathia; high, narrow palate; V-shaped maxillary arch; and open bite. This case report shows a two-phase orthodontic treatment in a patient with Turner syndrome with a Class II malocclusion and severe deep bite, which is an unusual feature in patients with this disease. A conventional orthodontic treatment was performed, and after 20 months in retention the patient remains stable.

  7. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

    PubMed

    Gravholt, Claus H; Andersen, Niels H; Conway, Gerard S; Dekkers, Olaf M; Geffner, Mitchell E; Klein, Karen O; Lin, Angela E; Mauras, Nelly; Quigley, Charmian A; Rubin, Karen; Sandberg, David E; Sas, Theo C J; Silberbach, Michael; Söderström-Anttila, Viveca; Stochholm, Kirstine; van Alfen-van derVelden, Janielle A; Woelfle, Joachim; Backeljauw, Philippe F

    2017-09-01

    Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the

  8. Overlap syndromes of autoimmune hepatitis: diagnosis and treatment.

    PubMed

    Aguilar-Nájera, O; Velasco-Zamora, J A; Torre, A

    2015-01-01

    Some patients with autoimmune liver disease have characteristics of cholestasis, as well as of autoimmune hepatitis. Despite the fact that this is a relatively frequent clinical condition seen in referral centers for liver diseases, there is little evidence as regards the clinical management of these syndromes due to their low prevalence and the lack of standardized definitions and diagnostic criteria. This is relevant, given that published studies report that there is a lower therapeutic response and poorer outcome in patients with overlap syndrome than in those presenting solely with autoimmune hepatitis. Whether overlap syndromes are distinct entities or the presence of 2 concurrent diseases is still a subject of debate. They should be suspected in autoimmune hepatitis patients that present with signs of cholestasis, as it is known that overlap behavior tends to be more aggressive, with higher rates of cirrhosis and the need for liver transplantation. Treatment response is also poorer and should be directed at the predominant component. Standardized definitions are necessary so that these syndromes can be studied in controlled clinical trials.

  9. Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.

    PubMed

    Roelofs, Renée L; Wingbermühle, Ellen; Freriks, Kim; Verhaak, Chris M; Kessels, Roy P C; Egger, Jos I M

    2015-04-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values < 0.001), whereas women with NS had more trouble recognizing angry facial expressions in comparison with controls (P = 0.01). No significant group differences were found for the frequency of social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans. © 2015 Wiley Periodicals, Inc.

  10. [Ischemic stroke in a young woman of Turner syndrome with T1-weighted imaging-pulvinar sign].

    PubMed

    Sangkyun, Ko; Kawano, Akiko; Yamanoi, Takahiko; Tokunaga, Keiko

    2014-01-01

    A 39-year-old woman developed right hemiparesis in a few days. Magnetic resonance images revealed cerebral infarction in the territory of the left lenticulostriate artery, and MR angiography showed severe stenosis of the middle and anterior cerebral arteries and moderate one of the vertebral arteries. Bilateral and symmetric T1 hyperintensity in the pulvinar (T1-weighted imaging-pulvinar sign; "T1 pulvinar sign") was detected, which is recognized as a key imaging of Fabry disease. The α-galactosidase A gene analysis, however, showed no mutation. Although specific physical symptoms were solely short stature and oligomenorrhea, the diagnosis of Turner syndrome was confirmed by the chromosome analysis which showed mosaicism of 45XO and 46X,r(X) (60%:40%). To our knowledge, this is the first report of Turner syndrome with "T1 pulvinar sign".

  11. Bilateral coxitis in scleroderma-polymyositis overlap syndrome

    PubMed Central

    Berrada, Khadija; Abourazzak, Fatima Ezzahra; Houssaini, Ghita Sqalli; Kadi, Nadira; Tahiri, Latifa; Amrani, Kawthar; Khammar, Zineb; Lahlou, Meriam; Berrady, Rhizlane; Rabhi, Samira; Tizniti, Siham; Bono, Wafaa; Harzy, Taoufik

    2014-01-01

    Joint manifestations in scleroderma (Scl) and polymyositis (PM) are dominated by inflammatory arthralgia. Arthritis is less common and preferentially affects the hands, wrists, knees, and ankles. Involvement of the hip has been rarely reported in the literature. We report a case of coxitis diagnosed in a patient suffering from scleroderma-polymyositis overlap syndrome successfully treated by ultrasound-guided infiltration of triamcinolone hexacetonide PMID:27708891

  12. GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

    PubMed

    Blum, Werner F; Ross, Judith L; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Kalifa, Gabriel; Deal, Cheri; Drop, Stenvert L S; Rappold, Gudrun; Cutler, Gordon B

    2013-08-01

    Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency. Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome. A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods). Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension. Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure. Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score. GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.

  13. Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study

    PubMed Central

    2011-01-01

    Background The risk of aortic dissection is 100-fold increased in Turner syndrome (TS). Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS. Methods Eighty adult TS patients were examined twice with a mean follow-up of 2.4 ± 0.4 years, and 67 healthy age and gender-matched controls were examined once. Aortic dimensions were measured at nine predefined positions using 3D, non-contrast and free-breathing cardiovascular magnetic resonance. Transthoracic echocardiography and 24-hour ambulatory blood pressure were also performed. Results At baseline, aortic diameters (body surface area indexed) were larger at all positions in TS. Aortic dilation was more prevalent at all positions excluding the distal transverse aortic arch. Aortic diameter increased in the aortic sinus, at the sinotubular junction and in the mid-ascending aorta with growth rates of 0.1 - 0.4 mm/year. Aortic diameters at all other positions were unchanged. The bicuspid aortic valve conferred higher aortic sinus growth rates (p < 0.05). No other predictors of aortic growth were identified. Conclusion A general aortopathy is present in TS with enlargement of the ascending aorta, which is accelerated in the presence of a bicuspid aortic valve. PMID:21527014

  14. Aripiprazole once-monthly as treatment for psychosis in Turner syndrome: literature review and case report.

    PubMed

    Carlone, Cristiano; Pompili, Enrico; Silvestrini, Cristiana; Nicolò, Giuseppe

    2016-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X, usually resulting of a sporadic chromosomal nondisjunction. It is one of the most common sex chromosome abnormalities, affecting approximately 1 in 2,000 live born females. There are sporadic few case reports of concomitant TS with schizophrenia worldwide. No defined psychiatric condition has been traditionally related to TS, and it is not mentioned in DSM-IV. Although it is not associated with any psychiatric syndrome, several case reports in the literature describe a similar constellation of symptoms in TS that may represent a biologically-based entity. Aripiprazole once-monthly is a second generation antipsychotic recently developed. Its efficacy and non-inferiority to oral aripiprazole have been demonstrated in preventing relapse in patients with schizophrenia. Experience with oral aripiprazole and the current availability of the long-acting formulation suggest a potential benefit in a variety of clinical scenarios and therefore consideration as a treatment option in the treatment of schizophrenia and psychotic symptoms in several disease like TS.

  15. Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T’s. Look at the hands

    PubMed Central

    Witters, G.; Van Robays, J.; Willekes, C.; Coumans, A.; Peeters, H.; Gyselaers, W.; Fryns, J.P.

    2011-01-01

    First trimester spontaneous abortions occur in 15 to 20% of all clinically recognized pregnancies. Chromosomal anomalies are responsible for more than 50% of spontaneous abortions. The majority (90%) of these chromosomal anomalies are numerical, particularly autosomal trisomies (involving chromosomes 13,16, 18, 21, 22), polyploidy and monosomy X. At birth chromosomal anomalies are still an important cause of congenital malformations occurring in 0,55% of newborns (autosomal: 0,40%, sex chromosomal: 0,15%). Autosomal trisomies result from maternal meiotic nondisjunction of gametogenesis and the risk increases with maternal age. Polyploidy (triploidy (3n = 69) or tetraploidy (4n = 92)), results from a contribution of one or more extra haploid chromosome sets at fertilization. Unlike the risk for autosomal trisomies, the risk for polyploidies and for monosomy X (Turner syndrome) does not increase with maternal age. In the prenatal period the ultrasonographic diagnosis of some autosomal trisomies such as trisomy 13 and 18 is feasible based on the frequently seen major malformations while the diagnosis of trisomy 21 often remains challenging due to the absence of major malformations in > 50% of cases. For Turner syndrome (monosomy X), the lethal form will present with cystic hygroma colli and hydrops but the non lethal form is difficult to recognize by ultrasound in the second trimester. The 5 frequently encountered chromosomal anomalies (Trisomy 13, 18, 21, Turner syndrome and Triploidy) referred here as the 5T’s have specific hand features which will be discussed. PMID:24753843

  16. 45,X/46,XY Turner Syndrome: A Psu dic(y) can appear normal by G-banding

    SciTech Connect

    Higgins, J.V.; Gutai, J.; Shreeve, J.

    1994-09-01

    Mosaic Turner syndrome is a common finding with 50% of the individuals with Turner syndrome having a second cell line. In rare cases, the additional chromosome is reported to be a Y or variant of the Y chromosome. We report a female with Turner Syndrome, who has a mosaic pattern, with the Y chromosome by GTL-banding appearing entirely normal, about the length of chromosome 22. Quinicrine-banding revealed no heterochromatic region. The father of the girl was unavailable for analysis. C-banding resulted in the determination of two centromeric regions, one active at the primary constriction and the second was inactive. The Y centromeric probe (Oncor) showed both the active and inactive centromeres to be of Y origin. Painting using whole chromosome Y paint (Imagenetics) revealed only Y material. In cases of males and females where 45,X/46,X,dic(Y) has been reported, a mosaic pattern has resulted from both centromeres being active in early embryogenesis. In this case the resulting chromosome looks to be a normal Y in both shape and size but with a mosaic pattern. Clearly, G-banding is not always adequate to determine a dic(Y). This suggests that any 45,X/46,SY mosaic pattern in either males or females should be evaluated for a possible dicentric Y chromosome.

  17. Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?

    PubMed

    Li, Chumei C; Chodirker, Bernard N; Dawson, Angelika J; Chudley, Albert E

    2004-04-01

    Russell-Silver syndrome is a genetically heterogeneous condition. For most affected individuals, it represents a phenotype rather than a specific disorder. Although chromosomal anomalies, imprinting disorder, maternal uniparental disomy 7 as well as familial autosomal dominant and X-linked forms have been reported, the diagnosis remains determined on clinical grounds. Russell-Silver syndrome is characterized by asymmetric intrauterine growth retardation, postnatal failure to thrive, distinct facial features, limb asymmetry, excessive sweating and minor skin lesions. We report here a female infant who had a karyotype of 45,X on prenatal amniocytes. After delivery she was noted to have features not explainable on the basis of Turner syndrome. Her phenotype actually was quite consistent with Russell-Silver syndrome. She had a triangular face with prominent forehead, large eyes, a thin nose, malar hypoplasia, thin upper lip with down-turned corner of the mouth and a pointed chin. Marked body asymmetry was evident at birth, with the left side significantly smaller than the right side. She has a diphalangeal left fifth finger. Skin fibroblast culture and analysis showed a karyotype of 45,X on the right side and 45,X/46,XX on the left side. The case is another illustration of the genetic heterogeneity of Russell-Silver phenotype.

  18. Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

    PubMed

    Kagan, K O; Sonek, J; Berg, X; Berg, C; Mallmann, M; Abele, H; Hoopmann, M; Geipel, A

    2015-07-01

    To examine the effectiveness of nasal bone (NB) evaluation (including NB length (NBL)), prenasal thickness (PT) measurement, the PT:NBL ratio and the prefrontal space ratio (PFSR) in the identification of fetuses with trisomy 18 or 13, triploidy or Turner syndrome. This was a retrospective study using stored midsagittal two-dimensional images of the facial profile of fetuses with trisomy 18 or 13, triploidy or Turner syndrome in the second and third trimesters. For images of acceptable quality, measurements were obtained of NBL (where NB was present), PT, the PT:NBL ratio and PFSR, and these measurements were compared with previously published normal ranges. The search of databases identified 189 fetuses that met the study criteria: 132 (69.8%) with trisomy 18, 40 (21.2%) with trisomy 13, 10 (5.3%) with triploidy and seven (3.7%) with Turner syndrome. The NB was either absent or its measurement was below the 5(th) centile in 67 (50.8%), 20 (50.0%), five (50.0%) and two (28.6%) of the fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The PT measurement was above the 95(th) centile in 24 (18.2%), six (15.0%), one (10.0%) and one (14.3%) of the affected fetuses, respectively. The PFSR was abnormal in 72 (54.5%), 29 (72.5%), seven (70%) and four (57.1%) of the cases and the PT:NBL ratio was above the 95(th) centile or the nasal bone was absent in 72 (54.5%), 20 (50.0%), six (60.0%) and four (57.1%) cases, respectively. Although each of the facial markers considered provides some useful information in screening for trisomy 18, trisomy 13, triploidy and Turner syndrome, the performance of none of the markers appears to be as good as that in screening for trisomy 21. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  19. [Syndrome of overlap: Chronic hepatitis C/autoimmune hepatitis: fact or fancy?].

    PubMed

    Antonaci, Salvatore; Giannelli, Gianluigi; Simone, Barbara; Vella, Francesco Saverio

    2005-01-01

    Non-organ specific autoantibodies are common in patients with chronic hepatitis C, making differential diagnosis difficult between viral, autoimmune forms and hepatitis C/autoimmune hepatitis overlap syndrome. The lack of additional criteria of autoimmunity in most patients leads to the definition of a "false" hepatitis C-autoimmune hepatitis overlap syndrome, while the "true" overlap syndrome occurs in a very few number of subjects. In patients with "false" overlap syndrome the first choice therapy is based on the administration of interferon plus ribavirin. On the contrary, first-line therapy with corticosteroids should be restricted to the "true" hepatitis overlap syndrome with the new therapeutic option of interferon/corticosteroid association.

  20. Shrinking lung syndrome in systemic lupus erythematosus-scleroderma overlap.

    PubMed

    Guleria, Vivek S; Singh, Pradeep K; Saxena, Puneet; Subramanian, Shankar

    2014-10-01

    Shrinking lung syndrome (SLS) is a infrequently reported manifestation of systemic lupus erythematosus (SLE). Reported prevalence of SLS is about 0.5% in SLE patients. Pathogenesis is not fully understood and different therapeutic modalities have been employed with variable results, as only 77 cases of SLS have been documented in literature. SLS in SLE-Scleroderma overlap has not been reported yet. We report a patient of SLE - scleroderma overlap presenting with dyspnea, intermittent orthopnea and pleuritic chest pain. Evaluation revealed elevated hemidiaphragms and severe restrictive defect. She was eventually diagnosed as a case of SLS. This case report is a reminder to the medical fraternity that SLS although a rare complication must be thought of in the special subset of patients of SLE having respiratory symptoms.

  1. Single Nucleotide Polymorphism Array Genotyping is Equivalent to Metaphase Cytogenetics for Diagnosis of Turner Syndrome

    PubMed Central

    Prakash, Siddharth; Guo, Dongchuan; Maslen, Cheryl L.; Silberbach, Michael; Investigators, GenTAC; Milewicz, Dianna; Bondy, Carolyn A.

    2013-01-01

    Background Turner syndrome (TS) is a developmental disorder caused by partial or complete monosomy for the X chromosome in 1:2500 females. We hypothesized that single nucleotide polymorphism (SNP) array genotyping can provide superior resolution in comparison to metaphase karyotype analysis to facilitate genotype-phenotype correlations. Methods We genotyped 187 TS patients with 733,000 SNP marker arrays. All cases met diagnostic criteria for TS based on karyotypes (60%) or characteristic physical features. SNP array results confirmed the diagnosis of TS in 100% of cases. Results We identified a single X chromosome (45,X) in 113 cases. In 58 additional cases (31%), other mosaic cell lines were present including isochromosomes (16%), rings (5%) and Xp deletions (8%). The remaining cases were mosaic for monosomy X and normal male or female cell lines. Array-based models of X chromosome structure were compatible with karyotypes in 104 of 116 comparable cases (90%). We found that SNP array data did not detect X;autosome translocations (3 cases), but did identify 2 derivative Y chromosomes and 13 large copy number variants that were not detected by karyotyping. Conclusions Our data is the first systematic comparison between the two methods and supports the utility of SNP array genotyping to address clinical and research questions in TS. PMID:23743550

  2. Reduced sebum production in Turner syndrome: a study of twenty-two patients.

    PubMed

    Brazzelli, Valeria; Calcaterra, V; Muzio, F; Klersy, C; Larizza, D; Borroni, G

    2011-01-01

    Turner's syndrome (TS) is a genetic disorder caused by numeric and/or structural abnormalities of the X chromosome. In a previous study it was observed that acne is less frequent in TS than in the general population. Since the onset of acne in pre-pubertal or pubertal age is related to sebum production, this study evaluates sebum secretion in TS patients, comparing the results with those of a control group of age-matched healthy female subjects. A total of 22 patients affected by TS (mean age 26.56±7.89 years) and a control group of 23 age-matched healthy females were studied. Sebum production was measured using a Sebumeter SM810. Mean sebum secretion in TS subjects was significantly lower than in the control group (81.35±66.44 UA vs 147.09±33.62 UA, p<0.001) and this significant difference was found in every facial zone. The reduction of sebum secretion may explain, using a simple and non-invasive method, the absence or the low incidence of acne in TS patients.

  3. Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients.

    PubMed

    Wiktor, Anne E; Van Dyke, Daniel L

    2005-10-15

    Ullrich-Turner syndrome (UTS) is most commonly due to a 45,X chromosome defect, but is also seen in patients with a variety of X-chromosome abnormalities or 45,X/46,XY mosaicism. The phenotype of UTS patients is highly variable, and depends largely on the karyotype. Patients are at an increased risk of gonadoblastoma when a Y-derived chromosome or chromosome fragment is present. Since constitutional mosaicism is present in approximately 50% of UTS patients, the identification of minor cell populations is clinically important and a challenge to laboratories. We identified 50 females with a 45,X karyotype as the sole abnormality or as part of a more complex karyotype. Twenty two (44%) had a 45,X karyotype; mosaicism for a second normal or structurally abnormal X was observed in 24 (48%) samples, and mosaicism for Y chromosomal material in 4 (8%) cases. To further investigate the possibility of mosaicism in the 22 patients with an apparently non-mosaic 45,X karyotype, we performed FISH using centromere probes for the X and Y chromosomes. A minor XX cell line was identified in 3 patients, and the 45,X result was confirmed in 19 samples. No samples with XY mosaicism were identified. We describe our validation process for a FISH assay to be used in clinical practice to identify XX or XY mosaicism. FISH as an adjunct to karyotype analysis provides a sensitive and cost-effective technique to identify sex chromosome mosaicism in UTS patients.

  4. Care of girls and women with Turner syndrome: beyond growth and hormones.

    PubMed

    Culen, Caroline; Ertl, Diana-Alexandra; Schubert, Katharina; Bartha-Doering, Lisa; Haeusler, Gabriele

    2017-05-01

    Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life. Guidelines on the optimal screening procedures and medical treatment are easy to find. However, recommendations for the treatment of the incriminating psychosocial aspects in TS are scarce. In this work, we first reviewed the literature on the cognitive and psychosocial development of girls with TS compared with normal development, from disclosure to young adulthood, and then introduce a psychosocial approach to counseling and treating patients with TS, including recommendations for age-appropriate psychological diagnostics. With this work, we aim to facilitate the integration of emphasized psychosocial care in state-of-the-art treatment for girls and women with TS. © 2017 The authors.

  5. X microchromosome with additional chromosome anomalies found in Ullrich-Turner syndrome

    SciTech Connect

    Wydner, K.L.; Sciorra, L.J.; Singer-Granick, C.

    1995-03-27

    Using standard cytogenetic methods coupled with molecular techniques, the following karyotype mos 45,X/46,XXq+/46,X-mar(X)/47,XXq+, +mar(X), was identified in a patient with Ullrich-Turner syndrome (UTS). High-resolution banding (n = 650) of the metaphase chromosomes yielded a breakpoint at q28 on the Xq+ rearranged chromosome. FISH was used to determine the presence of Y-containing DNA in the Xq+ and the mar(X) chromosomes. The following molecular probes were used: DYZ1, DYZ3, and spectrum orange WCP Y. The lack of specific hybridization of these probes was interpreted as a low risk of gonadoblastoma in this patient. Using X-chromosome- and centromere-specific probes, FISH demonstrated the presence of hybridizing material on both rearranged chromosomes, the Xq+ and mar(X). Finally, we determined that the mar(X) and Xq+ chromosomes contained telomeres in the absence of any interstitial telomeric hybridizing material. A micro-X chromosome is present in this UTS patient. Delineation of events leading toward the mechanisms responsible for the multiple DNA rearrangements required to generate the micro-X and Xq+ chromosomes awaits future studies. 25 refs., 6 figs., 1 tab.

  6. Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome

    PubMed Central

    de Marqui, Alessandra Bernadete Trovó; da Silva-Grecco, Roseane Lopes; Balarin, Marly Aparecida Spadotto

    2016-01-01

    Abstract Objective: To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques. Data source: A literature search was performed in Pubmed, limiting the period of time to the years 2005–2014 and using the descriptors: TS and Y sequences (n=26), and TS and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left. Data synthesis: The main results regarding the prevalence of Y-chromosome sequences in TS were: (1) about 60% of the studies were conducted by Brazilian researchers; (2) the prevalence varied from 4.6 to 60%; (3) the most frequently investigated genes were SRY, DYZ3 and TSPY; (4) seven studies used only polymerase chain reaction, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10–25%; in two of them it was zero. Conclusions: According to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated. PMID:26525685

  7. 45,X/46,XX karyotype mitigates the aberrant craniofacial morphology in Turner syndrome.

    PubMed

    Rizell, Sara; Barrenäs, Marie-Louise; Andlin-Sobocki, Anna; Stecksén-Blicks, Christina; Kjellberg, Heidrun

    2013-08-01

    The aim of this project was to study the impact on craniofacial morphology from Turner syndrome (TS) karyotype, number of intact X chromosomal p-arms, and age as well as to compare craniofacial morphology in TS with healthy females. Lateral radiographs from 108 females with TS, ranging from 5.4 to 61.6 years, were analysed. The TS females were divided into four karyotype groups: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, as well as according to the number of intact X chromosomal p-arms. The karyotype was found to have an impact on craniofacial growth, where the mosaic group, with presence of 46,XX cell lines, seems to exhibit less mandibular retrognathism as well as fewer statistically significant differences compared to the reference group than the 45,X karyotype. Isochromosomes had more significant differences versus the reference group than 45,X/46,XX but fewer than 45,X. To our knowledge, this is the first time the 45,X/46,XX and isochromosome karyotypes are divided into separate groups studying craniofacial morphology. Impact from p-arm was found on both maxillary and mandibular length. Compared to healthy females, TS expressed a shorter posterior and flattened cranial base, retrognathic, short and posteriorly rotated maxilla and mandible, increased height of ramus, and relatively shorter posterior facial height. The impact of age was found mainly on mandibular morphology since mandibular retrognathism and length were more discrepant in older TS females than younger.

  8. Care of girls and women with Turner syndrome: beyond growth and hormones

    PubMed Central

    Culen, Caroline; Ertl, Diana-Alexandra; Schubert, Katharina; Bartha-Doering, Lisa

    2017-01-01

    Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life. Guidelines on the optimal screening procedures and medical treatment are easy to find. However, recommendations for the treatment of the incriminating psychosocial aspects in TS are scarce. In this work, we first reviewed the literature on the cognitive and psychosocial development of girls with TS compared with normal development, from disclosure to young adulthood, and then introduce a psychosocial approach to counseling and treating patients with TS, including recommendations for age-appropriate psychological diagnostics. With this work, we aim to facilitate the integration of emphasized psychosocial care in state-of-the-art treatment for girls and women with TS. PMID:28336768

  9. Selenium Status in Patients with Turner Syndrome: a Biochemical Assessment Related with Body Composition.

    PubMed

    Pires, Liliane Viana; Siviero-Miachon, Adriana Aparecida; Spinola-Castro, Angela Maria; Pimentel, José Alexandre Coelho; Nishimura, Luciana Sigueta; Maia, Carla Soraya Costa; Cozzolino, Silvia Maria Franciscato

    2017-04-01

    Studies about selenium status in patients with Turner syndrome (TS) are non-existent in the literature. The aim of this study was to evaluate selenium status in patients with TS, while considering the different ages of the studied population and the relation with body composition. In total, 33 patients with TS were evaluated and grouped according to their developmental stages (children, adolescents, and adults). Selenium concentrations in their plasma, erythrocytes, urine, and nails were determined by using hydride generation atomic absorption spectrometry and erythrocyte glutathione peroxidase activity were measured by using Randox commercial kits. Additionally, height, weight, body fat percentage, waist circumference, and waist-height ratio were measured to characterize the patients. No differences in the selenium concentrations in the plasma, erythrocyte, urine, and nails or in the glutathione peroxidase activity were observed among the age groups (p > 0.05). The evaluated selenium levels were less than the established normal ones. The patients with larger waist circumference, body fat percentage, body mass index, and waist-height ratio showed lower glutathione peroxidase enzyme activity (p = 0.023). The present study shows that most patients with TS are deficient in selenium and that those with a greater accumulation of body fat have a lower GPx activity.

  10. MRI bullseye sign: An indicator of peripheral nerve constriction in parsonage-turner syndrome.

    PubMed

    Sneag, Darryl B; Saltzman, Eliana B; Meister, David W; Feinberg, Joseph H; Lee, Steve K; Wolfe, Scott W

    2017-07-01

    The role of MRI in identifying hourglass constrictions (HGCs) of nerves in Parsonage-Turner syndrome (PTS) is largely unknown. Six patients with PTS and absent or minimal recovery underwent MRI. Surgical exploration was performed at identified pathologic sites. The time between symptom onset and surgery was 12.4 ± 6.9 months; the time between MRI and surgery was 1.3 ± 0.6 months. Involved nerves included suprascapular, axillary, radial, and median nerve anterior interosseous and pronator teres fascicles. Twenty-three constriction sites in 10 nerves were identified on MRI. A "bullseye sign" of the nerve, identified immediately proximal to 21 of 23 sites, manifested as peripheral signal hyperintensity and central hypointensity orthogonal to the long axis of the nerve. All constrictions were confirmed operatively. In PTS, a bullseye sign on MRI can accurately localize HGCs, a previously unreported finding. Causes of HGCs and the bullseye sign are unknown. Muscle Nerve 56: 99-106, 2017. © 2016 Wiley Periodicals, Inc.

  11. Altered inorganic composition of dental enamel and dentin in primary teeth from girls with Turner syndrome.

    PubMed

    Rizell, Sara; Kjellberg, Heidrun; Dietz, Wolfram; Norén, Jörgen G; Lundgren, Ted

    2010-04-01

    In Turner syndrome (TS) one X-chromosome is missing or defective. The amelogenin gene, located on the X-chromosome, plays a key role during the formation of dental enamel. The aim of this study was to find support for the hypothesis that impaired expression of the X-chromosome influences mineral incorporation during amelogenesis and, indirectly, during dentinogenesis. Primary tooth enamel and dentin from girls with TS were analysed and compared with the enamel and dentin of primary teeth from healthy girls. Qualitative and quantitative changes in the composition of TS enamel were found, in addition to morphological differences. Higher frequencies of subsurface lesions and rod-free zones were seen in TS enamel using polarized light microscopy. Similarly, scanning electron microscopy showed that the enamel rods from TS teeth were of atypical sizes and directions. Using X-ray microanalysis, high levels of calcium and phosphorus, and low levels of carbon, were found in both TS enamel and dentin. Using microradiography, a lower degree of mineralization was found in TS enamel. Rule induction analysis was performed to identify characteristic element patterns for TS. Low values of carbon were the most critical attributes for the outcome TS. The conclusion was that impaired expression of the X-chromosome has an impact on dental hard tissue formation.

  12. Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?

    PubMed

    Hamza, Rasha T; Shalaby, Mennatallah H; Hamed, Laith S; Abdulla, Dunya B A; Elfekky, Sahar M; Sultan, Omar M

    2016-02-01

    Renal anomalies are present in up to 30% of patients with Turner syndrome (TS). Renal ultrasound (U/S) detects anatomical renal anomalies only while renal scintigraphy detects anomalies, detects early renal malfunction, and estimates glomerular filtration rate (GFR). Thus, we aimed to assess frequency of renal abnormalities detected by scintigraphy in comparison to renal U/S in TS patients. Ninety TS patients were subjected to auxological assessment, measurement of serum creatinine; and renal U/S and scintigraphy. Renal U/S detected renal anomalies in 22.22% of patients versus 17.78 % detected by scintigraphy (P = 0.035). Scintigraphy detected renal functional abnormalities in 44.44% of patients in the form of subnormal total GFR, abnormal renogram curve pattern, improper tracer handling and perfusion; and difference in split renal function >10% between both kidneys. Patients with a 45,X karyotype had more renal functional abnormalities (56%) than those with mosaic karyotype (33.33%), P = 0.04. In conclusion, renal scintigraphy is not superior to U/S in detection of renal anomalies but is a reliable method for early detection of renal malfunction in TS patients especially those with 45,X to ensure early management to offer a better quality of life.

  13. Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome.

    PubMed

    Cortés-Gutiérrez, Elva I; Herrera-Bartolo, Rosalba; Dávila-Rodríguez, Martha I; Palacios-Saucedo, Gerardo C; Vargas-Villarreal, Javier; Romero-Villarreal, Juana B

    2012-10-01

    A systematic search for a hidden Y-chromosome mosaicism, in Turner syndrome (TS) patients is justified by the evaluation of the risk of development of germ cell tumors. In this study, we analyzed cryptic Y-chromosome derivatives by polymerase chain reaction (PCR) coupled with fluorescence in situ hybridization (FISH) using Y-specific sequences in patients with TS, and validated this methodology. Unrelated patients with TS (n=32) of Mexican mestizo ethnic origin were diagnosed using cytogenetic analysis. Clinical assessment, endocrine evaluation, karyotyping, FISH and PCR analysis of the Y-chromosomal loci were performed. We found that 9.4% (3 out of 32) patients with TS had Y-chromosome material. Two patients showed Y-chromosome by conventional cytogenetics. One patient had no Y-chromosome by initial karyotyping (45, X) but was positive by lymphocyte PCR DNA analysis of the Y-sequence-specific sex-determining region Y (SRY) gene. Our results suggest that the detection of the Y-chromosome material using sensitive methods, such as PCR coupled with FISH, should be carried out in all patients with TS and should not be limited to TS patients with cytogenetically identifiable Y-chromosome and/or virilization.

  14. Chiropractic management of a 30-year-old patient with Parsonage-Turner syndrome

    PubMed Central

    Charles, Eugene

    2011-01-01

    Objectives The purpose of this case report is to describe the chiropractic management of a patient presenting with right arm paralysis and a diagnosis of Parsonage-Turner syndrome. Clinical Features After receiving nerve entrapment release surgery, a 30-year-old man presented with a right arm contracture, atrophy, and weakness with general paralysis of the forearm and index finger of 6 weeks' duration. Intervention and Outcome The patient was provided chiropractic care that included high-velocity/low-amplitude spinal manipulation based upon applied kinesiology manual muscle testing, soft tissue trigger point therapy, exercises, and stretches. The patient demonstrated improvement in range of motion after the first treatment session. By the eighth treatment, he was able to fully straighten his arm. Three years later, the patient reported that he was able to do mountain climbing and that his arm was fully functional and pain-free. Conclusion For this patient, chiropractic care seemed to be successful in relieving his right arm paralysis and restoring normal arm movement. PMID:22654689

  15. Body composition and bone mineral status in patients with Turner syndrome

    PubMed Central

    Shi, Kun; Liu, Li; He, Yao-Juan; Li, Duan; Yuan, Lian-Xiong; Lash, Gendie E.; Li, Li

    2016-01-01

    Turner syndrome (TS) is associated with decreased bone mineral density and increased fracture rate. However, the developmental trajectory of bone density or body composition in patients with TS is still unclear. The present study tested the hypothesis that different karyotypes and/or age contributes to abnormal body composition and decreased bone mineral status parameters in patients with TS. This study included 24 girls with TS, in which 13 girls exhibited X0 karyotype and 11 had mosaicism. Quantitative ultrasound (QUS) assessed the bone mineral status of the calcaneus, including bone mineral density (BMD), amplitude-dependent speed of sound (AD-SOS), broadband ultrasound attenuation (BUA) and InBody 770 assessed body composition. Pearson’s test was performed to correlate measured parameters with patient age. The body composition and bone mineral status parameters were not significantly influenced by patient karyotype. There was a correlation between patient age and AD-SOS (r = −0.61, P = 0.002) and BUA (r = 0.50, P = 0.013) but not BMD (r = −0.19, P = 0.379). In conclusion, there was no effect of karyotype on body composition or body mineral status. Bone mineral status, as evidenced by changes in AD-SOS and BUA, alters with age regardless of karyotype. The developmental trajectory demonstrated in the current study warrants further validation in a longitudinal study. PMID:27901060

  16. Genomic imprinting effects on cognitive and social abilities in prepubertal girls with Turner syndrome.

    PubMed

    Lepage, Jean-François; Hong, David S; Hallmayer, Joachim; Reiss, Allan L

    2012-03-01

    Recent evidence suggests that the cognitive and social manifestations associated with Turner syndrome (TS) might be influenced by epigenetic factors in the form of genomic imprinting. However, due to small and heterogeneous samples, inconsistent results have emerged from these studies. The objective of this prospective study was to establish the impact of genomic imprinting on neurocognitive abilities and social functioning in young girls with TS. An extensive battery of neuropsychological assessments was administered to 65 children with TS who had never been exposed to estrogen treatment, 24 of whom had an X-chromosome from paternal origin (Xpat) and 41 from maternal origin (Xmat). The Wechsler scales of intelligence, the Motor-Free Visual Spatial test-3, the Wide Range Assessment of Visual Motor Ability, and the attention/executive domain of the NEPSY were used to assess cognitive abilities. Social functioning was assessed with the Social Responsiveness Scale and the Behavior Assessment System for Children-2. Results showed that although individuals with Xpat obtained lower scores than their counterparts with Xmat on most cognitive and social measures, only the Perceptual Reasoning Index of the intelligence scale yielded significant differences after correction for multiple comparisons. Overall, these results suggest that although some aspects of the neuropsychological profile of TS may be influenced by epigenetic factors, the sociocognitive phenotype associated with the disorder is not modulated by genomic imprinting.

  17. Cardiovascular findings and management in Turner syndrome: insights from a French cohort.

    PubMed

    Donadille, Bruno; Rousseau, Alexandra; Zenaty, Delphine; Cabrol, Sylvie; Courtillot, Carine; Samara-Boustani, Dinane; Salenave, Sylvie; Monnier-Cholley, Laurence; Meuleman, Catherine; Jondeau, Guillaume; Iserin, Laurence; Duranteau, Lise; Cabanes, Laure; Bourcigaux, Nathalie; Bonnet, Damien; Bouchard, Philippe; Chanson, Philippe; Polak, Michel; Touraine, Philippe; Lebouc, Yves; Carel, Jean-Claude; Léger, Juliane; Christin-Maitre, Sophie

    2012-10-01

    Congenital cardiovascular malformations and aortic dilatation are frequent in patients with Turner syndrome (TS). The objective of this study was to investigate the cardiovascular findings and management in a large cohort of patients, including children and adults. We recruited 336 patients with TS from a network of tertiary centers. We reviewed their files, checking for cardiovascular events, cardiac valve abnormalities, and aortic diameters indexed to body surface area (BSA) from magnetic resonance imaging (n=110) or echocardiography (n=300). Informative cardiovascular data were available for only 233 patients. Vascular surgery was reported in 7.4% of the cohort. The first cause of surgery was aortic coarctation, detected in 6.9% at a median age of 9.5 (range: 0-60) years. Bicuspid aortic valve (BAV) was detected in 21% at a median age of 20 years (25th-75th percentiles: 15-30). At least one aortic diameter exceeded 32 mm in 12% of the cohort. This was detected at a median age of 19 (7-30) years. When indexed to BSA, at least one aortic diameter exceeded 20 mm/m(2) in 39% of the cohort. Our study shows that cardiovascular monitoring for TS patients is currently insufficient in France. BAV is present at birth, but often remains undiagnosed until later in life. Therefore, improved management in cardiovascular monitoring is required and a more systematic approach should be taken.

  18. Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome.

    PubMed

    Bispo, Adriana Valéria Sales; dos Santos, Luana Oliveira; de Barros, Juliana Vieira; Duarte, Andrea Rezende; Araújo, Jacqueline; Muniz, Maria Tereza Cartaxo; Santos, Neide

    2015-07-01

    Folate metabolism dysfunction can lead to DNA hypomethylation and abnormal chromosomal segregation. Previous investigations of this association have produced controversial results. Here we performed a case-control study in patients with Turner syndrome (TS) to determine the effects of genetic polymorphisms of folate pathway genes as potential risk factors for somatic chromosomal nondisjunction. TS is a useful model for this investigation because patients with TS show a high frequency of chromosome mosaicism. Here we investigated the possible association of polymorphisms of the MTHFR gene with TS risk, which has been previously investigated with controversial results. We also examined the effects of MTR, RFC1, and TYMS gene polymorphisms in TS for the first time. The risk was evaluated according to allelic and genotype (independent and combined) frequencies among 70 patients with TS and 144 age-matched healthy control subjects. Polymorphism genotyping was performed by PCR, PCR-RFLP, and PCR-ASA. The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS. In conclusion, our present findings did not support a link between impaired folate metabolism and abnormal chromosome segregation leading to somatic nondisjunction in TS patients. © 2015 Wiley Periodicals, Inc.

  19. Leukemias associated with Turner syndrome: report of three cases and review of the literature.

    PubMed

    Manola, Kalliopi N; Sambani, Constantina; Karakasis, Dimitris; Kalliakosta, Georgia; Harhalakis, Nicholas; Papaioannou, Maria

    2008-03-01

    Cases of leukemia associated with Turner syndrome (TS) are rare. Here we report three TS patients with leukemia including one case of T-large granular lymphocyte leukemia (T-LGL), one rare case of coexistence of chronic lymphocytic leukemia (CLL) and idiopathic myelofibrosis (IMF) and one case of a patient with AML-M2 who received autologous stem cell transplantation (SCT). T-LGL and coexistence of CLL and IMF associated with TS are reported for the first time while the last case represents the first report of SCT in a leukemia patient with TS. Our cases and the limited data of previously reported leukemia patients with TS suggest that TS is not associated with a specific type of leukemia and that presentation, clinical course and response to treatment are similar to that of the non-TS leukemia patients. However, these patients may have a higher risk of liver complications. Interestingly, in the mosaic TS patients, the abnormal clones were restricted to the monosomic 45,X cells, indicating that the leukemic clones possibly originate from the monosomic cell line. Even in cases with no additional chromosome abnormalities, the ratio of X/XX cells in bone marrow cells was significantly increased compared to that in constitutional karyotype, indicating that monosomic cells possibly provide a survival advantage for leukemia cells or that reduced programmed cell death may be responsible for the expansion of the monosomic cells.

  20. Slipped capital femoral epiphysis in a patient with Turner syndrome receiving growth hormone therapy.

    PubMed

    Nasrallah, Mona P; Der-Boghossian, Asdghig H; Haidar, Rachid K

    2012-01-01

    To report a case of slipped capital femoral epiphysis in a young patient with Turner syndrome (TS) receiving growth hormone therapy and to emphasize the importance of keeping this orthopedic condition in mind during management of this patient group. Clinical, laboratory, and radiographic findings are presented, and risk factors for slipped capital femoral epiphysis are discussed. A child with TS presented for medical assessment because of a limp but with no history of trauma or febrile illness. Growth hormone therapy had been administered for 1 year because of her short stature. Physical examination and pelvic radiography of the patient showed the presence of bilateral slipped capital femoral epiphysis. She underwent bilateral pinning in situ, and growth hormone therapy was terminated. At follow-up after more than 2 years, no sequelae were noted. Patients with TS are at high risk for developing certain orthopedic conditions, such as slipped capital femoral epiphysis. Furthermore, slipped capital femoral epiphysis is a known complication of growth hormone therapy in growing children. A limp, hip pain, knee pain, or thigh pain might be a symptom of slipped capital femoral epiphysis in patients with TS, especially those receiving growth hormone therapy. Prompt recognition and treatment of this condition are important for prevention of sequelae.

  1. Turner syndrome: review of clinical, neuropsychiatric, and EEG status: an experience of tertiary center.

    PubMed

    Saad, Khaled; Abdelrahman, Ahmed A; Abdel-Raheem, Yasser F; Othman, Essam R; Badry, Reda; Othman, Hisham A K; Sobhy, Karema M

    2014-03-01

    We reviewed the clinical, neuropsychiatric, and EEG status of 53 turner syndrome (TS) females, aged 3-16 years, in Assiut university hospitals, Upper Egypt. The diagnosis and care of patients with TS in Egypt is still in the developing stage. Hence this study was undertaken to review the details of patients with TS with respect to the pattern of cognitive, psychiatric, and motor dysfunction. We aimed to provide a comprehensive data about the experience of our center comparable to previous studies, which have been published in this field. This will contribute to a better definition of the neuropsychiatric features that may be specific to TS that allows early and better detection and management of these cases. We found FSIQ and verbal IQ that seem to be at a nearly normal level and a decreased performance IQ. ADHD and autistic symptoms were found in 20.70 and 3.77 % of our cohort, respectively. The motor performance in TS was disturbed, with some neurological deficits present in 17 % (reduced muscle tone and reduced muscle power). In addition, females with TS in our study exhibit social and emotional problems, including anxiety (5.66 %) and depression (11.30 %). The EEG results revealed abnormalities in seven patients (13.20 %). One patient presenting with generalized tonic-clonic seizures showed generalized epileptiform activity, and six patients presenting with intellectual disabilities showed abnormal EEG background activity.

  2. CPEO and carnitine deficiency overlapping in MELAS syndrome.

    PubMed

    Hsu, C C; Chuang, Y H; Tsai, J L; Jong, H J; Shen, Y Y; Huang, H L; Chen, H L; Lee, H C; Pang, C Y; Wei, Y H

    1995-09-01

    Mitochondrial myopathy, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, vomiting, encephalopathy and lactic acidosis. We report a 27-year-old woman who presented with partial seizure, stroke-like episodes including hemiparesis, hemianopia and hemihypethesia, sensorineural hearing loss, migraine-like headache, and lactic acidosis. Brain computed tomographic scan showed encephalomalacia in the right parieto-occipital area and recent hypodensity in the left temporoparieto-occipital area with cortical atrophy. Muscle biopsy revealed ragged-red fibers and paracrystaline inclusions in the mitochondria. Genetic study revealed an A to G point mutation at nucleotide position (np) 3243 of mitochondrial DNA. External ophthalmoplegia and ptosis were also found during two exaggerated episodes in this patient. Therefore, the overlapping syndrome of chronic progressive external ophthalmoplegia in the MELAS syndrome is considered in this case. Furthermore, we also found carnitine deficiency in this patient and she was responsive well to steroid therapy. Muscle biopsy also revealed excessive lipid droplets deposits. Therefore, the carnitine deficiency may occur in MELAS syndrome with the A to G point mutation at np 3243. We recommend the steroid or carnitine supplement therapy be applied to the MELAS syndrome with carnitine deficiency.

  3. ANCA Associated Mononeuritis Multiplex with Overlap in Vasculitic Syndromes

    PubMed Central

    Narayanan, Coimbatore; Varadraj, Govindraj; Nandeesh, Bevinahalli

    2017-01-01

    Mononeuritis multiplex is a common manifestation of many illnesses which includes Hansen’s disease and certain types of systemic vasculitis. The Antineutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis (AAV) is a group of rare diseases which show typical characteristic inflammatory cell infiltration and blood vessel wall necrosis. AAV syndromes include Granulomatosis with Polyangiitis (GPA), Microscopic Polyangiitis (MPA) and Eosinophilic Granulomatosis with Polyangiitis (EGPA). We describe a patient who presented with mononeuritis multiplex and had features of overlap between EGPA and MPA. The patient was treated with standard regimen of steroids and pulsed cyclophosphamide and she achieved excellent clinical remission. PMID:28273992

  4. Simultaneous Combined Myositis, Inflammatory Polyneuropathy, and Overlap Myasthenic Syndrome

    PubMed Central

    Magy, Laurent; Corcia, Philippe; Ghorab, Karima; Richard, Laurence; Ciron, Jonathan; Duchesne, Mathilde; Vallat, Jean-Michel

    2016-01-01

    Immune-mediated neuromuscular disorders include pathologies of the peripheral nervous system, neuromuscular junction, and muscles. If overlap syndromes (or the association of almost two autoimmune disorders) are recognized, the simultaneous occurrence of several autoimmune neuromuscular disorders is rare. We describe two patients presenting the simultaneous occurrence of inflammatory neuropathy, myositis, and myasthenia gravis (with positive acetylcholine receptor antibodies). For each patient, we carried out a pathological analysis (nerve and muscle) and an electrophysiological study (and follow-up). To our knowledge, this is the first description of such a triple immune-mediated neuromuscular syndrome. We compared our observations with a few other cases of simultaneous diagnosis of two inflammatory neuromuscular disorders. PMID:28044116

  5. Acetaminophen induced Steven Johnson syndrome-toxic epidermal necrolysis overlap.

    PubMed

    Khawaja, Ali; Shahab, Ahmed; Hussain, Syed Ather

    2012-05-01

    Steven Johnson Syndrome and Toxic Epidermal Necrolysis are rare but severe form of hypersensitivity inflammatory reactions to multiple offending agents including drugs. Acetaminophen is extensively used due to its analgesic and anti-pyretic properties. It is rendered to be relatively safe, with hepatotoxicity considered to be the major adverse effect. However, very few cases of Steven Johnson Syndrome and Toxic Epidermal Necrolysis have been reported with acetaminophen usage in the past. We present the case of a 40 years old lady who developed an overlap of the two condition after taking several doses of acetaminophen for fever. She presented with widespread maculopapular rash, stinging in the eyes, oral mucosal ulcerations and high grade fever. She was successfully treated with corticosteroid therapy along with the supportive treatment. This case addresses the fact, that severe hypersensitivity reactions can occur with acetaminophen which can be potentially life threatening.

  6. Influence of the X-chromosome on neuroanatomy: evidence from Turner and Klinefelter syndromes.

    PubMed

    Hong, David S; Hoeft, Fumiko; Marzelli, Matthew J; Lepage, Jean-Francois; Roeltgen, David; Ross, Judith; Reiss, Allan L

    2014-03-05

    Studies of sex effects on neurodevelopment have traditionally focused on animal models investigating hormonal influences on brain anatomy. However, more recent evidence suggests that sex chromosomes may also have direct upstream effects that act independently of hormones. Sex chromosome aneuploidies provide ideal models to examine this framework in humans, including Turner syndrome (TS), where females are missing one X-chromosome (45X), and Klinefelter syndrome (KS), where males have an additional X-chromosome (47XXY). As these disorders essentially represent copy number variants of the sex chromosomes, investigation of brain structure across these disorders allows us to determine whether sex chromosome gene dosage effects exist. We used voxel-based morphometry to investigate this hypothesis in a large sample of children in early puberty, to compare regional gray matter volumes among individuals with one (45X), two (typically developing 46XX females and 46XY males), and three (47XXY) sex chromosomes. Between-group contrasts of TS and KS groups relative to respective sex-matched controls demonstrated highly convergent patterns of volumetric differences with the presence of an additional sex chromosome being associated with relatively decreased parieto-occipital gray matter volume and relatively increased temporo-insular gray matter volumes. Furthermore, z-score map comparisons between TS and KS cohorts also suggested that this effect occurs in a linear dose-dependent fashion. We infer that sex chromosome gene expression directly influences brain structure in children during early stages of puberty, extending our understanding of genotype-phenotype mechanisms underlying sex differences in the brain.

  7. Unusual Turner syndrome mosaic with a triple x cell line (47,X/49,XXX) in a western lowland gorilla (Gorilla gorilla gorilla).

    PubMed

    Bradford, Carol M; Tupa, Lynn; Wiese, Debbie; Hurley, Timothy J; Zimmerman, Ralph

    2013-12-01

    A 29-yr-old female western lowland gorilla (Gorilla gorilla gorilla) was evaluated for low fertility and a midterm abortion. Laboratory testing included karyotyping, which revealed an unusual mosaicism for Turner syndrome with Triple X (47,X/49,XXX). This appears to be the first report of Turner syndrome in a great ape. In humans, Turner syndrome occurs in approximately 1 in 3,000 females, with half of those monosomic for the X chromosome. A small proportion is mosaic for a triple X cell line (3-4%). In humans, Turner syndrome is associated with characteristic phenotype including short stature, obesity, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears. This individual gorilla is significantly shorter in stature than conspecifics and is obese despite normal caloric intake. Individuals with Turner syndrome should also be screened for common health issues, including congenital heart defects, obesity, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus. Animals with decreased fertility, multiple miscarriages, fetal losses, unusual phenotypes, or a combination of these symptoms should be evaluated for genetic abnormalities.

  8. Cholesteatoma has a high prevalence in Turner syndrome, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians.

    PubMed

    Lim, D B N; Gault, E J; Kubba, H; Morrissey, M S C; Wynne, D M; Donaldson, M D C

    2014-07-01

    Girls with Turner syndrome are prone to cholesteatoma, a serious suppurative middle ear disease. We aimed to confirm its high prevalence in Turner syndrome, identify risk factors and suggest possible strategies for earlier detection. We reviewed 179 girls with Turner syndrome between 1989 and 2012 to identify cases of cholesteatoma. Seven girls (3.9%) had cholesteatoma (index girls) and each was compared with three age-matched girls without cholesteatoma (comparison girls). All the index girls had either the 45,X or 45,X/46X,i(Xq) karyotypes. Nine ears were initially affected, with three recurrences in two girls. Median age at first cholesteatoma presentation was 11.9 years (range: 7.5-15.2), with otorrhoea for three (range: one to seven) months in all 12 affected ears. Index girls had a significantly higher proportion of previous recurrent acute (p = 0.007) and chronic otitis media (p = 0.008), chronic perforation (p = 0.038) aural polyps (p < 0.0001) and tympanic membrane retraction (p = 0.0001) than comparison girls. Cholesteatoma has a high prevalence in Turner syndrome. Risk factors include 45,X and 46,XiXq karyotypes; a history of chronic otitis media, tympanic membrane retraction and persistent otorrhoea; and older age. Earlier recognition of ear disease is needed and otoscopy training for paediatricians caring for Turner syndrome patients may be beneficial. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  9. Asthma, chronic obstructive pulmonary disease (COPD), and the overlap syndrome.

    PubMed

    Nakawah, Mohammad Obadah; Hawkins, Clare; Barbandi, Farouk

    2013-01-01

    Asthma and chronic obstructive pulmonary disease (COPD) are highly prevalent chronic diseases in the general population. Both are characterized by heterogeneous chronic airway inflammation and airway obstruction. In both conditions, chronic inflammation affects the whole respiratory tract, from central to peripheral airways, with different inflammatory cells recruited, different mediators produced, and thus differing responses to therapy. Airway obstruction is typically intermittent and reversible in asthma but is progressive and largely irreversible in COPD. However, there is a considerable pathologic and functional overlap between these 2 heterogeneous disorders, particularly among the elderly, who may have components of both diseases (asthma-COPD overlap syndrome). The definitions for asthma and COPD recommended by current guidelines are useful but limited because they do not illustrate the full spectrum of obstructive airway diseases that is encountered in clinical practice. Defining asthma and COPD as separate entities neglects a considerable proportion of patients with overlapping features and is largely based on expert opinion rather than on the best current evidence. The presence of different phenotypes or components of obstructive airway diseases, therefore, needs to be addressed to individualize and optimize treatment to achieve the best effect with the fewest side effects for the patient. Although specific interventions vary by disease, the treatment goals of obstructive airway diseases are similar and driven primarily by the need to control symptoms, optimize health status, and prevent exacerbations.

  10. OVERLAP OF STURGE–WEBER SYNDROME AND KLIPPEL–TRENAUNAY SYNDROME

    PubMed Central

    Purkait, Radheshyam; Samanta, Tryambak; Sinhamahapatra, Tapankumar; Chatterjee, Mridula

    2011-01-01

    Sturge–Weber syndrome is a rare sporadic condition of mesodermal phakomatosis, characterized by purple-colored flat cutaneous cranial (face) hemangiomas (most commonly along the trigeminal nerve), glaucoma and vascular lesions in the ipsilateral brain and meninges. Klippel–Trenaunay syndrome is also an uncommon mesodermal phakomatosis characterized by a triad of cutaneous and visceral hemangiomas, venous varicosities and soft tissue or bone hypertrophy. Sturge–Weber syndrome in combination with Klippel–Trenaunay syndrome is unusual. Because of the rarity, we report here a 3-year-old boy who presented with overlapping features of both the syndromes. PMID:22345790

  11. Overlap of sturge-weber syndrome and klippel-trenaunay syndrome.

    PubMed

    Purkait, Radheshyam; Samanta, Tryambak; Sinhamahapatra, Tapankumar; Chatterjee, Mridula

    2011-11-01

    Sturge-Weber syndrome is a rare sporadic condition of mesodermal phakomatosis, characterized by purple-colored flat cutaneous cranial (face) hemangiomas (most commonly along the trigeminal nerve), glaucoma and vascular lesions in the ipsilateral brain and meninges. Klippel-Trenaunay syndrome is also an uncommon mesodermal phakomatosis characterized by a triad of cutaneous and visceral hemangiomas, venous varicosities and soft tissue or bone hypertrophy. Sturge-Weber syndrome in combination with Klippel-Trenaunay syndrome is unusual. Because of the rarity, we report here a 3-year-old boy who presented with overlapping features of both the syndromes.

  12. Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature.

    PubMed

    Pietzner, Vera; Weigel, Johannes F W; Wand, Dorothea; Merkenschlager, Andreas; Bernhard, Matthias K

    2014-01-01

    Impaired glucose tolerance and type 2 diabetes are well-known features in patients with Turner syndrome. To the best of our knowledge, there is only one reported case of hyperinsulinemic hypoglycemia associated with a complex mosaic Turner syndrome available in the current literature. We report on the case of a 13-month-old girl with a complex mosaic Turner genotype and mild hyperinsulinemic hypoglycemia responsive to diazoxide therapy. Cytogenetic analyses showed two or possibly three cell lines. Sixty percent of the cell lines had a 45,X genotype and the rest had 46,XX with a marker ring chromosome. Diagnosis of a mosaic Turner syndrome and mild Kabuki-like phenotype was confirmed. Despite the rareness of this case, clinicians should be aware of the possibility of hyperinsulinemic hypoglycemia in patients with Turner syndrome to prevent further brain damage caused by hypoglycemic episodes and seizures. Although the mechanism leading to hyperinsulinism in this condition is still unknown, the present report discusses this rare presentation and gives an overview on the current literature regarding this case.

  13. Ontogenetic changes of craniofacial complex in Turner syndrome patients treated with growth hormone.

    PubMed

    Juloski, Jovana; Glisic, Branislav; Scepan, Ivana; Milasin, Jelena; Mitrovic, Katarina; Babic, Marko

    2013-07-01

    The present study assessed changes of craniofacial complex in Turner syndrome (TS) patients treated with growth hormone (GH) during development. The objective was to examine the growth rate and pattern of craniofacial structures and to establish effects of GH on craniofacial development. The study population consisted of 15 TS patients treated with GH aged 5-18.5 years (13.3 ± 4.4) and corresponding control group of 45 females aged 6.8-18.7 (11.4 ± 2.6). According to the stage of cervical vertebral maturation, subjects were categorized into pre-growth (5 TS and 15 controls) and growth (10 TS and 30 controls) subgroups. The cephalometric analysis comprised angular and linear variables, measured on lateral cephalometric radiographs. The mandibular corpus/anterior cranial base ratio increased significantly only in controls during development. In growth period, ramus/corpus ratio was significantly larger in TS group. SNA and SNB angles were significantly smaller in TS growth subgroup compared to corresponding controls. Among other variables, no statistically significant differences were revealed. In TS patients treated with GH, growth capacities of cranial base and maxilla are adequate which can be attributed to GH treatment. Shape of mandible is altered due to decreased growth of corpus and overdeveloped ramus. Both maxillary and mandibular retrognathism are becoming more expressed during development. Favorable influence of GH on craniofacial complex growth rate and altered growth pattern revealed in this study should be considered while planning both orthodontic treatment and retention.

  14. Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis

    PubMed Central

    Al Alwan, I; M, Khadora; Amir; G, Nasrat; A, Omair; L, Brown; M, Al Dubayee; M, Badri

    2014-01-01

    Background Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. Methods We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed. Results Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27–15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99–12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups. Conclusion This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life. PMID:25246887

  15. Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.

    PubMed

    Larizza, Daniela; Albanesi, Michela; De Silvestri, Annalisa; Accordino, Giulia; Brazzelli, Valeria; Maffè, Gabriella Carnevale; Calcaterra, Valeria

    2016-05-01

    Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  16. Loss of smell but not taste in adult women with Turner's syndrome and other congenital hypogonadisms.

    PubMed

    Ros, Cristina; Alobid, Isam; Centellas, Silvia; Balasch, Juan; Mullol, Joaquim; Castelo-Branco, Camil

    2012-11-01

    To assess the impact of Turner's syndrome (TS) and other congenital hypogonadisms (OCH) on the sense of smell and taste. An analytical study of three independent cohorts was designed: patients affected by TS, OCH, and a control group of healthy women taking contraception. Gynaecological Endocrinology Unit and Smell Clinic in Rhinology Unit of Hospital Clinic of Barcelona. Thirty TS patients between 20 and 50 years of age receiving hormone replacement treatment (HT) were included as the exposed cohort; fourteen age-matched women with OCH taking HT were recruited; forty-three age-matched healthy controls receiving hormone contraception treatment were selected as the control group. This group was matched with an historical cohort of forty healthy women without contraception, used to validate BAST-24 in Hospital Clinic of Barcelona. Clinical history, presence of nasal symptoms, general physical examination, nasal endoscopy, and Barcelona Smell Test-24 (BAST-24) and gustometry were carried out on all patients. TS physical dysmorphology features, intensity of nasal symptoms and signs of nasal obstruction were collected. BAST-24 test included 24 odours to assess both sensory (detection, memory and forced choice) and sensitivity (intensity, irritability, freshness and pleasantness) odour characteristics, as well as 4 tastes to evaluate taste domains (detection and forced choice). Healthy women taking hormone contraception felt odours with more intensity (p=0.002) and less irritability (p<0.001) than the historical cohort. TS patients showed a significant impairment in smell memory (p<0.005) and forced-choice (p<0.001) compared with controls taking contraception, whereas no differences were found in odour sensitivity. Detection of taste was successful in 100% of patients. When considering only individual tastes, none of them showed statistically significant differences between groups. Patients with TS show the impairment of smell but not of taste, compared to OCH and

  17. Hormonal replacement therapy in women with Turner's syndrome in Poland: Analysis of 176 cases.

    PubMed

    Wacław, Jez; Irzyniec, Tomasz Jerzy

    2009-08-01

    Turner syndrome (TS) is one of the forms of gonadal malfunction. The study aims at the analysis of hypophysis-gonad axis (HGA) of women with TS who use and do not use hormonal replacement therapy (HRT). One hundred and seventy-six Poles with TS were investigated in the years 1995-2004. The information about the application of HRT was given during the interview. The HGA was examined by the estimation of gonadotropin (FSH, LH) and 17beta-estradiol (E(2)) levels. HRT was administered to 89% of women with TS at some point of their life. However, at the time of writing this report only 54% of them have been taking this drug. The variety of hormonal preparations used by the patients was great. In women with TS using the HRT, in contradiction to women with TS who do not use it, lower concentrations of FSH (32.1 +/- 22.1 vs. 44.2 +/- 23.3 IU/l) and LH (20.8 +/- 17.5 vs. 26.6 +/- 18.1 IU/l) as well as higher level of E(2) (135.5 +/- 147.9 vs. 89.9 +/- 100.6 pmol/l) were observed. The negative correlation between E(2) and FSH levels was not observed in women with TS using HRT, despite the elevation of 17beta-estradiol levels and the reduction of gonadotropin concentration. (1) Large percentage of women with TS does not use HRT. (2) Women with TS, who receive HRT, use this method of treatment insufficiently.

  18. Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis.

    PubMed

    Al Alwan, I; M, Khadora; Amir; G, Nasrat; A, Omair; L, Brown; M, Al Dubayee; M, Badri

    2014-04-01

    Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed. Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27-15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99-12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups. This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life.

  19. Aberrant functional network recruitment of posterior parietal cortex in Turner syndrome.

    PubMed

    Bray, Signe; Hoeft, Fumiko; Hong, David S; Reiss, Allan L

    2013-12-01

    Turner syndrome is a genetic disorder caused by the complete or partial absence of an X chromosome in affected women. Individuals with TS show characteristic difficulties with executive functions, visual-spatial and mathematical cognition, with relatively intact verbal skills, and congruent abnormalities in structural development of the posterior parietal cortex (PPC). The functionally heterogeneous PPC has recently been investigated using connectivity-based clustering methods, which sub-divide a given region into clusters of voxels showing similar structural or functional connectivity to other brain regions. In the present study, we extended this method to compare connectivity-based clustering between groups and investigate whether functional networks differentially recruit the PPC in TS. To this end, we parcellated the PPC into sub-regions based on temporal correlations with other regions of the brain. fMRI data were collected from 15 girls with TS and 14 typically developing (TD) girls, aged 7-14, while they performed a visual-spatial task. Temporal correlations between voxels in the PPC and a set of seed regions were calculated, and the PPC divided into clusters of voxels showing similar connectivity. It was found that in general the PPC parcellates similarly in TS and TD girls, but that regions in bilateral inferior parietal lobules, and posterior right superior parietal lobule, were reliably recruited by different networks in TS relative to TD participants. These regions showed weaker correlation in TS with a set of regions involved in visual processing. These results suggest that abnormal development of visuospatial functional networks in TS may relate to the well documented cognitive difficulties in this disorder. Copyright © 2012 Wiley Periodicals, Inc.

  20. X-Chromosome Gene Dosage and the Risk of Diabetes in Turner Syndrome

    PubMed Central

    Bakalov, Vladimir K.; Cheng, Clara; Zhou, Jian; Bondy, Carolyn A.

    2009-01-01

    Background: Turner syndrome (TS) is caused by the absence or fragmentation of the second sex chromosome. An increased risk of diabetes mellitus (DM) has consistently been noted, but the specific phenotype and genetic etiology of this trait are unknown. Methods: In a prospective study, we examined the prevalence of DM in adult participants in an intramural National Institutes of Health (NIH) TS study. Results were analyzed with respect to karyotype, age, body mass index (BMI), and autoimmune indices. Insulin sensitivity and secretion were compared in age- and BMI-matched euglycemic women with TS and healthy female controls. We compared gene expression profiles in lymphocytes from differentially affected TS groups. Results: Type 2 DM was present in 56 of 224 (25%) of the women with TS; type 1 DM was found in only one woman (<0.5%). DM was more prevalent among women with an isoXq chromosome compared to X monosomy (40.0 vs. 17.3%; P = 0.004). Euglycemic women with TS (n = 72; age, 33 ± 12 yr; BMI, 23 ± 3 kg/m2) had significantly higher glycemic and lower insulin responses to OGTT, with insulin sensitivity similar to controls. Gene expression profiles comparing 46,X,i(X)q vs. 45,X groups showed a significant increase in Xq transcripts and in potentially diabetogenic autosomal transcripts in the isoXq group. Conclusion: Type 2 DM associated with deficient insulin release is significantly increased among women with monosomy for the X-chromosome but is increased even more among women with monosomy for Xp coupled with trisomy for Xq. These data suggest that haploinsufficiency for unknown Xp genes increases risk for DM and that excess dosage of Xq genes compounds the risk. PMID:19567529

  1. Typical brachial neuritis (Parsonage-Turner syndrome) with hourglass-like constrictions in the affected nerves.

    PubMed

    Pan, Yong-Wei; Wang, Shufeng; Tian, Guanglei; Li, Chun; Tian, Wen; Tian, Mengmeng

    2011-07-01

    To report on 5 patients who had acute brachial neuritis (Parsonage-Turner syndrome) with hourglass-like constriction in the affected nerves. We retrospectively reviewed 5 patients who were treated in our department from December 2003 to December 2008. Acute, intense pain around the shoulder girdle and upper arm was the first symptom and was followed by muscle weakness and atrophy. Clinical and EMG examinations showed involvement of 2 or more nerves in the affected extremity. Those severely affected nerves that had no response to conservative treatment were explored, and an hourglass-like constriction was identified. Neurolysis was performed at the sites of constrictions in 2 radial nerves and 1 median nerve. The constricted portion was resected, and direct coaptation was performed in 1 radial nerve and 1 musculocutaneous nerve. The constricted portion was resected, and nerve graft was performed in 2 radial nerves and 1 median nerve. All patients were followed up for 24 to 84 months after surgery. Of 3 nerves treated with external neurolysis, all attained full recovery. Of 2 nerves treated with resection and neurorrhaphy, 1 attained full recovery, and the other had an incomplete recovery. Of 3 nerves treated with resection and nerve graft, 1 (4-cm nerve graft) attained full recovery, and 2 (4-cm and 13-cm nerve graft, respectively) had incomplete recovery. The site of nerve lesion of brachial neuritis was not necessarily within the brachial plexus. Our finding of hourglass-like constrictions in individual peripheral nerves suggest that multifocal involvement of terminal branch lesions may underlie the complex patterns of paralysis often encountered clinically. Prognostic IV. Copyright © 2011 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  2. Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.

    PubMed

    Gilbert, B; Yardin, C; Briault, S; Belin, V; Lienhardt, A; Aubard, Y; Battin, J; Servaud, M; Philippe, H J; Lacombe, D

    2002-08-01

    We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood.

  3. The relationship of periaortic fat thickness and cardiovascular risk factors in children with Turner syndrome.

    PubMed

    Akyürek, Nesibe; Atabek, Mehmet Emre; Eklioglu, Beray Selver; Alp, Hayrullah

    2015-06-01

    Children with Turner syndrome (TS) have a broad range of later health problems, including an increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the relationship between periaortic fat thickness (PAFT) and metabolic and cardiovascular profiles in children with TS. Twenty-nine TS and 29 healthy children and adolescents were enrolled in the study. Anthropometric measurements, pubertal staging, and blood pressure measurements were performed. Fasting serum glucose, insulin, and lipid profile were measured. Periaortic fat thickness was measured using an echocardiography method, which has not previously been applied in children with TS. No difference was found between TS and control subject (CS) in age, weight, waist/hip ratio, HDL cholesterol and LDL cholesterol levels. However, in TS subjects, total cholesterol (p = 0.045) was greater than that in controls. It was determined that 13.7 % (N: 4) of TS subjects had dyslipidemia. Mean fasting glucose, fasting insulin, QUICK-I, HOMA, and FGIR index were similar in TS and in CS, whereas 17.2 % (N: 5) of TS subjects had insulin resistance (IR) and 13.7 % (N: 4) had impaired glucose tolerance. Six subjects (20.6 %) were diagnosed as hypertensive. Periaortic fat thickness was significantly higher in the TS group (p < 0.001) (0.1694 ± 0.025 mm in the TS group and 0.1416 ± 0.014 mm in the CS group) In children with TS, PAFT was positively correlated with fasting insulin, body mass index, and diastolic blood pressure. Our results provide additional evidence for the presence of subclinical cardiovascular disease in TS. In addition to existing methods, we recommend the measurement of periaortic fat thickness in children with TS to reveal the presence of early atherosclerosis.

  4. Face perception in women with Turner syndrome and its underlying factors.

    PubMed

    Anaki, David; Zadikov Mor, Tal; Gepstein, Vardit; Hochberg, Ze'ev

    2016-09-01

    Turner syndrome (TS) is a chromosomal condition that affects development in females. It is characterized by short stature, ovarian failure and other congenital malformations, due to a partial or complete absence of the sex chromosome. Women with TS frequently suffer from various physical and hormonal dysfunctions, along with impairments in visual-spatial processing and social cognition difficulties. Previous research has also shown difficulties in face and emotion perception. In the current study we examined two questions: First, whether women with TS, that are impaired in face perception, also suffer from deficits in face-specific processes. The second question was whether these face impairments in TS are related to visual-spatial perceptual dysfunctions exhibited by TS individuals, or to impaired social cognition skills. Twenty-six women with TS and 26 control participants were tested on various cognitive and psychological tests to assess visual-spatial perception, face and facial expression perception, and social cognition skills. Results show that women with TS were less accurate in face perception and facial expression processing, yet they exhibited normal face-specific processes (configural and holistic processing). They also showed difficulties in spatial perception and social cognition capacities. Additional analyses revealed that their face perception impairments were related to their deficits in visual-spatial processing. Thus, our results do not support the claim that the impairments in face processing observed in TS are related to difficulties in social cognition. Rather, our data point to the possibility that face perception difficulties in TS stem from visual-spatial impairments and may not be specific to faces. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. Abnormal aortic arch morphology in Turner syndrome patients is a risk factor for hypertension.

    PubMed

    De Groote, Katya; Devos, Daniël; Van Herck, Koen; Demulier, Laurent; Buysse, Wesley; De Schepper, Jean; De Wolf, Daniël

    2015-09-01

    Hypertension in Turner syndrome (TS) is a multifactorial, highly prevalent and significant problem that warrants timely diagnosis and rigorous treatment. The objective of this study was to investigate the association between abnormal aortic arch morphology and hypertension in adult TS patients. This was a single centre retrospective study in 74 adult TS patients (age 29.41 ± 8.91 years) who underwent a routine cardiac MRI. Patients were assigned to the hypertensive group (N = 31) if blood pressure exceeded 140/90 mmHg and/or if they were treated with antihypertensive medication. Aortic arch morphology was evaluated on MRI images and initially assigned as normal (N = 54) or abnormal (N = 20), based on the curve of the transverse arch and the distance between the left common carotid-left subclavian artery. We additionally used a new more objective method to describe aortic arch abnormality in TS by determination of the relative position of the highest point of the transverse arch (AoHP). Logistic regression analysis showed that hypertension is significantly and independently associated with age, BMI and abnormal arch morphology, with a larger effect size for the new AoHP method than for the classical method. TS patients with hypertension and abnormal arch morphology more often had dilatation of the ascending aorta. There is a significant association between abnormal arch morphology and hypertension in TS patients, independent of age and BMI, and not related to other structural heart disease. We suggest that aortic arch morphology should be included in the risk stratification for hypertension in TS and propose a new quantitative method to express aortic arch morphology.

  6. First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

    PubMed

    Wagner, P; Sonek, J; Hoopmann, M; Abele, H; Kagan, K O

    2016-10-01

    To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, triploidy and Turner syndrome based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a detailed fetal anomaly scan at 11-13 weeks' gestation. This was a retrospective case-matched study involving pregnant women at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, trisomy 13, triploidy or Turner syndrome. For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, maternal age (MA); second, MA and fetal NT; third, MA, NT and one of the markers NB, TV flow or DV flow; fourth, MA, NT and all these markers combined; fifth, MA, NT and fetal anomalies; and, finally, MA, NT, all markers and fetal anomalies. The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8 mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0 mm in fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on MA and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on MA, fetal NT and a detailed anomaly scan, the detection rate was 94.5% and increased to 95

  7. Dysgerminoma in a female with turner syndrome and Y chromosome material: A case-based review of literature.

    PubMed

    Kota, Sunil Kumar; Gayatri, Kotni; Pani, Jaya Prakash; Kota, Siva Krishna; Meher, Lalit Kumar; Modi, Kirtikumar D

    2012-05-01

    We report a 17-year-old girl evaluated for primary amenorrhea. Cytogenetic analysis of the peripheral blood lymphocytes revealed normal autosomes with 46X inv (Y) confirming the diagnosis of Turner's syndrome with Y cell line. Treatment was initiated with conjugated estrogen while recommending bilateral prophylactic oophorectomy to the patient. One year later the patient presented with abdominal mass, biopsy of the specimen following resection confirmed dysgerminoma originating from right ovary with no invasion or metastasis. The literature is reviewed with regard to the various pathogenetic mechanisms proposed for the development of germ cell tumors in ovary, the cytogenetic findings and recommendations to handle such scenario.

  8. Growth Hormone Treatment Increases Plasma Irisin Concentration in Patients with Turner Syndrome.

    PubMed

    Wikiera, B; Zawadzka, K; Łaczmański, Ł; Słoka, N; Bolanowski, M; Basiak, A; Noczyńska, A; Daroszewski, J

    2017-02-01

    Irisin (Ir) deficiency may be a contributing factor in metabolic disease. This study aimed to investigate the effect of supraphysiological doses of recombinant human growth hormone (rhGH) on Ir plasma concentration in relation to metabolic disorders, including obesity and other components of metabolic syndrome. We studied 36 girls with Turner syndrome (mean age 8.2 years) treated with rhGH (0.05 mg/kg/day). Anthropometric data and fasting blood levels [e. g., Ir, insulin, glucose, glycated hemoglobin (HbA1c), IGF-1, IGFBP-3, cholesterol, insulin resistance (HOMA-IR), and β-cell function (HOMA-β)] were analyzed prior to and following rhGH therapy [mean (SD) follow-up of 1.47 (0.89) years]. Insulin sensitivity (Matsuda index) was calculated before and after the glucose load. Following rhGH therapy, an increase in IGF-1 [mean (SD) of 119.40 (62.47) ng/ml to 439.08 (209.91) ng/ml, p=0.000], Ir [2.10 (1.03) μg/ml to 2.48 (0.78) μg/ml, p=0.036], HOMA-IR [median (IQR) of 0.64 (0.45-1.30) to 0.92 (0.67-2.36), p=0.0206], and HOMA-β values [45.00 (27.69-72.00) to 81.53 (51.43-132.00), p=0.0447] were observed. Multiple regression analysis yielded no associations between Ir and metabolic and hormonal parameters before rhGH treatment; however, on rhGH, the model (R(2)=0.56, adjusted R(2=)0.45) showed positive associations between Ir and IGF-1 standard deviation score and HbA1c, and negative associations between Ir and fasting blood glucose, HDL-cholesterol, and triglycerides. Despite manifestation of insulin resistance, rhGH application had a positive effect on Ir regulation, and restored physiological conditions of lipid and glucose metabolism.

  9. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

    PubMed Central

    Yeşilkaya, Ediz; Bereket, Abdullah; Darendeliler, Feyza; Baş, Firdevs; Poyrazoğlu, Şükran; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Sarı, Erkan; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Abalı, Saygın; Akın, Leyla; Selver Eklioğlu, Beray; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Fidancı, Kürşat; Polat, Adem; Gül, Davut; Açıkel, Cengizhan; Demirbilek, Hüseyin; Cinaz, Peyami; Bondy, Carolyn

    2015-01-01

    Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. PMID:25800473

  10. Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome.

    PubMed

    Onder, Asan; Aycan, Zehra; Cetinkaya, Semra; Kendirci, Havva Nur Peltek; Bas, Veysel Nijat; Agladioglu, Sebahat Yilmaz

    2012-01-01

    There are few reports of an association between Turner syndrome (TS) and 21-hydroxylase deficiency. However, this association is more frequent in some populations. The aim of this study was to evaluate the incidence of 21-hydroxylase deficiency in patients with TS in our population. 21-hydroxylase deficiency was evaluated in 44 TS cases with 45X (n=20) and 24 mosaic cases. A standard dose adrenocorticotropic (ACTH) stimulation test (Synacthen, Novartis, Basel, Switzerland) was performed, and 17 hydroxyprogesterone (17OHP), dehydroepiandrosterone sulfate (DHEAS) and cortisol responses were evaluated. Patients with increased 17OHP responses in the stimulation test also underwent 21-hydroxylase gene analysis. The mean age was 14.6 +/- 4 (2.6-22.4); 37 patients were on growth hormone (GH) treatment. Nine patients were at prepubertal stage, whereas 35 were pubertal (24 on gonadal steroids and 11 spontaneously). Six patients were obese. Only one of our patients had a level of 7.5 ng/mL of 17OHP, and there was no mutation found in congenital adrenal hyperplasia (CAH) genetic analysis. In other cases, peak 17OHP levels were < or = 6 ng/mL. The mean peak 17OHP was 2.62 +/- 1.48 (1.19-7.5) ng/mL, the cortisol level was 37.6 +/- 8.43 (23.9-56.2) microg/dL and the DHEAS was 135.2+/- 87.3 (15-413) microg/dL. The increased mean basal and peak cortisol levels (20.5 +/- 10.2 and 37.6 +/- 8.4 microg/dL) were remarkable findings. Whereas basal cortisol was above 20 microg/dL in 38.7% of patients, exaggerated results up to 56.2 microg/dL were obtained in peak cortisol levels. The basal and peak 17OHP cortisol levels were not correlated with the presence of puberty, chromosome structure, gonadal steroid use, obesity or growth hormone use. This trial suggested that 21-hydroxylase deficiency was not common among patients with TS in our population. Adrenal function should be assessed, at least in the presence of clitoral enlargement in patients with TS, particularly if their karyotype

  11. Long-term safety of recombinant human growth hormone in turner syndrome.

    PubMed

    Bolar, Katrina; Hoffman, Andrew R; Maneatis, Thomas; Lippe, Barbara

    2008-02-01

    Turner syndrome (TS) affects more than 50,000 girls and women in the United States. The National Cooperative Growth Study (NCGS) has collected efficacy and safety data for 5220 TS children treated with recombinant human GH (rhGH) during the last 20 yr. Our objective was to determine frequencies of specific targeted adverse events (AEs) and additional AEs of interest in TS patients. Corresponding safety data in non-TS patients or normal populations were compared for selected AEs. Patients may be enrolled at rhGH initiation and followed until discontinuation. Investigators submit AE reports describing any event that is potentially rhGH related or is a targeted event. The Genentech Drug Safety department received 442 AE reports for TS NCGS patients as of June 30, 2006, including 117 serious AEs. Seven deaths occurred; five resulted from aortic dissections/ruptures. The incidence of certain events known to be associated with rhGH (targeted events), including intracranial hypertension, slipped capital femoral epiphysis, scoliosis, and pancreatitis, was increased compared with other non-TS patients in NCGS. There were 10 new-onset malignancies that occurred, including six in patients without known risk factors. Type 1 diabetes also appeared to be increased compared with other NCGS groups. Children with TS who were treated with rhGH exhibit an increased underlying risk for selected AEs associated with rhGH and for type 1 diabetes, which is likely unrelated to rhGH. The aortic dissection/rupture incidence reflects the higher baseline risk for these events in TS, was consistent with current epidemiological data in smaller TS populations, and is likely unrelated to rhGH. It is not known whether the reported malignancies represent an inherently increased risk in TS patients. Twenty years of experience in 5220 patients indicates no new rhGH-related safety signals in the TS population. The NCGS and similar registries, although focused on the years during rhGH treatment, may

  12. Unusual association of Turner syndrome and Mayer-Rokitansky-Küster-Hauser syndrome.

    PubMed

    Meena, Alpana; Daga, Mradul Kumar; Dixit, Rashmi

    2016-05-20

    Gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) are the most common causes of primary amenorrhoea. Patients with gonadal dysgenesis present with primary amenorrhoea and lack of secondary sexual characteristics, which, in contrast, are present in patients with MRKHS. The coexistence of the 2 syndromes has been reported in only a few studies so far. We describe a case of a 15-year-old girl who presented with short stature and primary amenorrhoea. Investigations revealed hypergonadotropic hypogonadism, and absence of the uterus, and upper two-thirds of the vagina, with presence of the rudimentary lower third of the vagina and non-visualised bilateral ovaries on imaging. Karyotyping obtained by lymphocyte culture GTG banding revealed 45X/46XX. The patient was diagnosed as having a rare case of gonadal dysgenesis with MRKH. She was started on growth hormone therapy. The association of these syndromes is uncommon, and has further implications on fertility and pregnancy, affecting the quality of life. 2016 BMJ Publishing Group Ltd.

  13. Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome

    SciTech Connect

    Letterie, G.S.

    1995-12-04

    This is a report of a patient with delayed puberty and a previously unreported translocation 46,X,-X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. 6 refs., 3 figs.

  14. Parsonage-Turner syndrome and a localised swelling around the extensor tendons of the hand: a clinical sign indicating increased risk of rupture of the tendon.

    PubMed

    Vedung, Torbjörn

    2012-10-01

    Two patients presented with intense pain in the shoulder followed by weakness and paralysis of muscles in the shoulder and arm, together with a peculiar swelling on the hand. The swelling seems to predispose to rupture of the extensor tendon. If this tumour is a regular finding in Parsonage-Turner syndrome, it may also help in making a definitive diagnosis.

  15. The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females.

    PubMed

    Kubota, T; Wakui, K; Nakamura, T; Ohashi, H; Watanabe, Y; Yoshino, M; Kida, T; Okamoto, N; Matsumura, M; Muroya, K; Ogata, T; Goto, Y; Fukushima, Y

    2002-01-01

    Turner syndrome females (45,X) do not have mental retardation (MR), whereas some mosaic ring X Turner syndrome females, with 45,X/46,X,r(X), have severe MR. The MR is believed to be caused by a failure of X chromosome inactivation (XCI) of the small ring X chromosome, which leads to functional X disomy (FXD), To explore this hypothesis, we examined the proportion of FXD cells in the peripheral blood of four ring X Turner syndrome females with various levels of MR, using two newly developed XCI assays based on DNA methylation of X-linked genes. As a result, the two patients with extremely severe MR showed complete FXD patterns, whereas the remaining two patients with relatively milder MR showed partial FXD patterns. These results indicate that the proportion of FXD cells may be associated with the severity of MR in mosaic ring X Turner syndrome females, although this association should be confirmed by examining brain cells during development. One of the cases with severe MR and a complete FXD pattern neither lacked the XIST gene nor had uniparental X isodisomy, and we discuss the mechanism of the failure of XCI in this case.

  16. Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome.

    PubMed

    Letterie, G S

    1995-12-04

    This is a report of a patient with delayed puberty and a previously unreported translocation 46,X -X, +der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed.

  17. Asthma-COPD overlap syndrome (ACOS): A diagnostic challenge.

    PubMed

    Tho, Nguyen Van; Park, Hye Yun; Nakano, Yasutaka

    2016-04-01

    Asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) is characterized by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD. ACOS may be a special phenotype of a spectrum of chronic obstructive airway diseases, in which asthma and COPD are at the two opposite ends. The prevalence of ACOS varies considerably due to differing criteria being applied for diagnosis. Patients with ACOS utilize a large proportion of medical resources. They are associated with more frequent adverse outcomes than those with asthma or COPD alone. ACOS is currently a diagnostic challenge for physicians because there are no specific biomarkers to differentiate ACOS from asthma or COPD. The approach to diagnosing ACOS depends on the population from which the patient originated. The management of ACOS should be individualized to ensure the most effective treatment with minimal side effects. In this paper, we review the diagnostic criteria of ACOS used in previous studies, propose practical approaches to diagnosing and managing ACOS and raise some research questions related to ACOS.

  18. Understanding asthma-chronic obstructive pulmonary disease overlap syndrome.

    PubMed

    Wurst, Keele E; Kelly-Reif, Kaitlin; Bushnell, Greta A; Pascoe, Steven; Barnes, Neil

    2016-01-01

    Asthma-chronic obstructive pulmonary disease overlap syndrome (ACOS) is a loosely-defined clinical entity referring to patients who exhibit characteristics of both asthma and chronic obstructive pulmonary disease (COPD). Clinical definitions and classifications for ACOS vary widely, which impacts our understanding of prevalence, diagnosis and treatment of the condition. This literature review was therefore conducted to characterize the prevalence of ACOS and the effect of different disease definitions on these estimates, as this has not previously been explored. From an analysis of English language literature published from 2000 to 2014, the estimated prevalence of ACOS ranges from 12.1% to 55.2% among patients with COPD and 13.3%-61.0% among patients with asthma alone. This variability is linked to differences in COPD and asthma diagnostic criteria, disease ascertainment methods (spirometry-based versus clinical or symptom-based diagnoses and claims data), and population characteristics including age, gender and smoking. Understanding the reasons for differences in prevalence estimates of ACOS across the literature may help guide decision making on the most appropriate criteria for defining ACOS and aid investigators in designing future ACOS clinical studies aimed at effective treatment.

  19. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.

    PubMed

    Bernard, Valérie; Donadille, Bruno; Zenaty, Delphine; Courtillot, Carine; Salenave, Sylvie; Brac de la Perrière, Aude; Albarel, Frédérique; Fèvre, Anne; Kerlan, Véronique; Brue, Thierry; Delemer, Brigitte; Borson-Chazot, Françoise; Carel, Jean-Claude; Chanson, Philippe; Léger, Juliane; Touraine, Philippe; Christin-Maitre, Sophie

    2016-04-01

    What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)? Amongst 480 women with TS, 27 women (5.6%) had a total of 52 SP, with 30 full-term deliveries for 18 women. Primary ovarian insufficiency is a classic feature of TS. So far, few studies have evaluated the rate of SP in these patients. The French Ministry of Health set up a National Reference Centre for Rare Growth Disorders (CRMERC), including TS. We studied a cohort of adult TS patients from seven endocrine units (Saint-Antoine, Pitié-Salpêtrière, Bicêtre, Lyon, Marseille, Brest, Reims Hospitals) belonging to this centre, between January 1999 and January 2014. A total of 480 adult patients with TS were included. The patients' clinical characteristics, karyotypes and reproductive histories had been collected, after informed consent, in a web database called CEMARA. Our reference population was issued from a database belonging to the French Health Ministry, collecting pregnancy outcomes in the French general population. In order to find predictive characteristics of SP, TS with spontaneous pregnancies were compared with non-pregnant TS patients from our cohort. There were 27 patients (5.6%) who had a total of 52 SP. The two predictive factors which correlated with occurrence of a SP were spontaneous menarche and mosaic karyotype. The median delay to conception was 6 months (range 0-84). Miscarriage occurred in 16 pregnancies, 30.8% versus 15% in the general French population (P < 0.01). The remaining pregnancy outcomes were legal abortion (n = 2), medical interruption (n = 3), intrauterine fetal death (n = 1) and delivery at term (n = 30). Caesarean section rates were higher than in the general population, respectively 46.7% versus 21% (P < 0.001). Pregnancy-induced hypertensive disorders (PHDs) occurred in four cases (13.3%), including two cases of mild pre-eclampsia (6.7%). Neither aortic root dilatation nor aortic dissection

  20. What pulmonologists think about the asthma–COPD overlap syndrome

    PubMed Central

    Miravitlles, Marc; Alcázar, Bernardino; Alvarez, Francisco Javier; Bazús, Teresa; Calle, Myriam; Casanova, Ciro; Cisneros, Carolina; de-Torres, Juan P; Entrenas, Luis M; Esteban, Cristóbal; García-Sidro, Patricia; Cosio, Borja G; Huerta, Arturo; Iriberri, Milagros; Izquierdo, José Luis; López-Viña, Antolín; López-Campos, José Luis; Martínez-Moragón, Eva; Pérez de Llano, Luis; Perpiñá, Miguel; Ros, José Antonio; Serrano, José; Soler-Cataluña, Juan José; Torrego, Alfons; Urrutia, Isabel; Plaza, Vicente

    2015-01-01

    Background Some patients with COPD may share characteristics of asthma; this is the so-called asthma–COPD overlap syndrome (ACOS). There are no universally accepted criteria for ACOS, and most treatments for asthma and COPD have not been adequately tested in this population. Materials and methods We performed a survey among pulmonology specialists in asthma and COPD aimed at collecting their opinions about ACOS and their attitudes in regard to some case scenarios of ACOS patients. The participants answered a structured questionnaire and attended a face-to-face meeting with the Metaplan methodology to discuss different aspects of ACOS. Results A total of 26 pulmonologists with a mean age of 49.7 years participated in the survey (13 specialists in asthma and 13 in COPD). Among these, 84.6% recognized the existence of ACOS and stated that a mean of 12.6% of their patients might have this syndrome. In addition, 80.8% agreed that the diagnostic criteria for ACOS are not yet well defined. The most frequently mentioned characteristics of ACOS were a history of asthma (88.5%), significant smoking exposure (73.1%), and postbronchodilator forced expiratory volume in 1 second/forced vital capacity <0.7 (69.2%). The most accepted diagnostic criteria were eosinophilia in sputum (80.8%), a very positive bronchodilator test (69.2%), and a history of asthma before 40 years of age (65.4%). Up to 96.2% agreed that first-line treatment for ACOS was the combination of a long-acting β2-agonist and inhaled steroid, with a long-acting antimuscarinic agent (triple therapy) for severe ACOS. Conclusion Most Spanish specialists in asthma and COPD agree that ACOS exists, but the diagnostic criteria are not yet well defined. A previous history of asthma, smoking, and not fully reversible airflow limitation are considered the main characteristics of ACOS, with the most accepted first-line treatment being long-acting β2-agonist/inhaled corticosteroids. PMID:26270415

  1. Characterization of sputum biomarkers for asthma–COPD overlap syndrome

    PubMed Central

    Gao, Jing; Iwamoto, Hiroshi; Koskela, Jukka; Alenius, Harri; Hattori, Noboru; Kohno, Nobuoki; Laitinen, Tarja; Mazur, Witold; Pulkkinen, Ville

    2016-01-01

    Asthma–COPD overlap syndrome (ACOS) is a commonly encountered chronic airway disease. However, ACOS is still a consensus-based clinical phenotype and the underlying inflammatory mechanisms are inadequately characterized. To clarify the inflammatory mediatypical for ACOS, five biomarkers, namely interleukin (IL)-13, myeloperoxidase (MPO), neutrophil gelatinase-associated lipocalin (NGAL), chitinase-like protein (YKL-40), and IL-6, were selected. This study hypothesized that sputum biomarkers relevant for airway inflammation in asthma (IL-13), COPD (MPO, NGAL), or in both asthma and COPD (YKL-40, IL-6) could be used to differentiate ACOS from COPD and asthma. The aim of this study was to characterize the inflammatory profile and improve the recognition of ACOS. Induced sputum levels of IL-13, MPO, NGAL, YKL-40, and IL-6 were measured by enzyme-linked immunosorbent assay/Luminex assay in a Finnish discovery cohort (n=90) of nonsmokers, smokers, and patients with asthma, COPD, and ACOS and validated in a Japanese cohort (n=135). The classification accuracy of potential biomarkers was compared with area under the receiver operating characteristic curves. Only sputum NGAL levels could differentiate ACOS from asthma (P<0.001 and P<0.001) and COPD (P<0.05 and P=0.002) in the discovery and replication cohorts, respectively. Sputum NGAL levels were independently correlated with the percentage of pre-bronchodilator forced expiratory volume in 1 second predicted in multivariate analysis in the discovery and replication cohorts (P=0.001 and P=0.002, respectively). In conclusion, sputum biomarkers reflecting both airway inflammation and remodeling of the tissue show potential in differentiation between asthma, COPD, and ACOS. PMID:27757028

  2. A Critical Appraisal of Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome Patients in Turkey

    PubMed Central

    Yavaş Abalı, Zehra; Darendeliler, Feyza; Neyzi, Olcay

    2016-01-01

    Early detection of abnormal growth, identification of the underlying cause, and appropriate treatment of the medical condition is an important issue for children with short stature. Growth hormone (GH) therapy is widely used in GH-deficient children and also in non-GH-deficient short stature cases who have findings conforming to certain indications. Efficacy of GH therapy has been shown in a multitude of short- and long-term studies. Age at onset of GH therapy is the most important factor for a successful treatment outcome. Optimal dosing is also essential. The aim of this review was to focus on challenges in the early diagnosis and appropriate management of short stature due to GH deficiency (GHD) and Turner syndrome. These are the most frequent two indications for GH therapy in Turkey approved by the Ministry of Health for coverage by the national insurance system. PMID:27354120

  3. Anti-AMPA-Receptor Encephalitis Presenting as a Rapid-Cycling Bipolar Disorder in a Young Woman with Turner Syndrome

    PubMed Central

    Quaranta, Giuseppe; Maremmani, Angelo Giovanni Icro; Perugi, Giulio

    2015-01-01

    Background. Autoimmune encephalitis is a disorder characterised by the subacute onset of seizures, short-term memory loss, and psychiatric and behavioural symptoms. Initially, it was recognised as a paraneoplastic disorder, but recently a subgroup of patients without systemic cancer was identified. Case Description. We describe a 20-year-old woman with Turner syndrome presenting with a treatment-resistant rapid cycling bipolar disorder with cognitive impairment. She was diagnosed with anti-AMPA-receptor encephalitis. She showed marked improvement after starting memantine and valproic acid. Conclusion. This case description emphasises the importance of timely recognition of autoimmune limbic encephalitis in patients with psychiatric manifestations and a possible predisposition to autoimmune conditions, in order to rule out malignancy and to quickly initiate treatment. PMID:26495149

  4. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature

    PubMed Central

    Carlson, M; Silberbach, M

    2009-01-01

    Patients with Turner syndrome (TS) are at risk for aortic dissection, but the clinical profile for those at risk is not well described. In addition to reporting two new cases, we performed an electronic search to identify all reported cases of aortic dissection associated with TS. In total, 85 cases of aortic dissection in TS were reported between 1961 and 2006. Dissection occurred at a young age, 30.7 (range 4–64) years, which is significantly earlier than its occurrence in the general female population (68 years). Importantly, in 11% of the cases, neither hypertension nor congenital heart disease were identified, suggesting that TS alone is an independent risk factor for aortic dissection; however, the cases where no risk factors were identified were very poorly documented. A TS aortic dissection registry has been established to determine the natural history and risk factors better (http://www.turnersyndrome.org/). PMID:21731587

  5. Agenesis of the corpus callosum in Turner's syndrome: report of a case and review of the literature.

    PubMed

    Lee, Ying-Ying; Hung, June; Chang, Ting-Yu; Huang, Chin-Chang

    2008-09-01

    Turner's syndrome (TS) is a genetic disorder caused by loss of entire or a substantial part of the X-chromosome, but association with central nervous system (CNS) abnormalities is rarely reported. A 32-year-old female with TS was found to have agenesis of the corpus callosum (ACC) and various clinical features including coarctation of aorta, hypertelorism, small jaw, short and webbed neck, cubitus valgus, and absence of the uterus. Karyotype analysis revealed X monosomy cell line (45, X). There have been only three other cases of TS associated with ACC. High prenatal lethality of TS fetuses with congenital CNS malformations may decrease the incidence of this association. Neuropsychological studies showed a normal intelligence neither prominent learning disability nor discrepancy between verbal and non-verbal items.

  6. Renal denervation for severe hypertension in a small child with Turner syndrome: miniaturisation of the procedure and results

    PubMed Central

    Bonanni, Alice; Pasetti, Francesco; Ghiggeri, Gian Marco; Gandolfo, Carlo

    2015-01-01

    Sympathetic nervous system hyperactivity plays a role in development and progression of hypertension. While renal denervation employing radiofrequency devices has been used therapeutically in treating severe hypertension with alternate results in adults, few data are available regarding children. We treated a 6-year-old girl affected by Turner syndrome presenting severe hypertension and an episode of stroke, in spite of treatment with four antihypertensive drugs, with sympathetic ablation. The Simplicity device (Medtronic, Minneapolis, USA) was adapted to the smaller vessels, allowing a tailored approach. After 3 and 6 months of treatment, and β-blocker discontinuation, blood pressure values were set between the 90th and 95th centiles for sex and age, and normalised at 12 months. We confirm that renal denervation can be used to treat severe hypertension in children; miniaturisation of catheter and tailoring the procedure for small vessels allowed a safe approach. Progressive improvement of blood pressure had a satisfactory clinical impact. PMID:25759273

  7. Spontaneous uterine rupture at 14 weeks gestation during a pregnancy consecutive to an oocyte donation in a woman with Turner's syndrome.

    PubMed

    Masia, Florent; Zoric, Lana; Ripart-Neveu, Sylvie; Marès, Pierre; Ripart, Jacques

    2015-04-01

    We describe a spontaneous uterine rupture at 14 weeks gestation in a Turner patient. A 39 year-old patient was admitted for abdominal pain and hypotension at 14 weeks of pregnancy. The pregnancy had been obtained by oocyte donation and in vitro fertilization (IVF) because of Turner's syndrome. The abdominal ultrasound scan showed a normal pregnancy and a conserved foetal cardiac activity. It also showed a large amount of free fluid in the perihepatic space. Haemoglobin was 11.2 g/dL. After hemodynamic degradation, urgent laparoscopy showed an unrepairable uterine rupture with partial exteriorisation of the pregnancy, and placenta percreta. Urgent conversion to laparotomy allowed haemostatic hysterectomy. Uterine rupture during pregnancy obtained by oocyte donation in Turner's syndrome may be life threatening. The possibility of such a complication should be considered before oocyte donation for IVF in Turner's patients. Early spontaneous uterine rupture (second trimester) is a challenging diagnostic that should be evoked in case of non-specific abdominal pain in the presence of risk factors.

  8. Primary biliary cirrhosis--autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.

    PubMed

    Pamfil, Cristina; Candrea, Elisabeta; Berki, Emese; Popov, Horațiu I; Radu, Pompilia I; Rednic, Simona

    2015-03-01

    Autoimmune liver diseases may be associated with extrahepatic autoimmune pathology. We report the case of a 52-year old woman who initially presented to the gastroenterology department for extreme fatigue, pale stools, dark urine and pruritus. Laboratory tests showed significant cholestasis and elevation of aminotransferase levels. Immunological tests revealed positive antinuclear (ANA=1:320) and antimitochondrial antibodies (AMA=1:40) with negative anti-smooth muscle and liver kidney microsomal type 1 antibodies. The biopsy was compatible with overlap syndrome type 1. The patient was commenced on immunosuppressive therapy according to standard of care (azathioprine 50mg, ursodeoxycholic acid and prednisone 0.5mg/kg), with moderate biochemical improvement. She subsequently developed proximal symmetrical weakness and cutaneous involvement and was diagnosed with biopsy-proven dermatomyositis. The immunosuppressive regimen was intensified to 150 mg azathioprine. At the three-month follow-up, her symptoms subsided and aminotransferases and muscle enzymes normalized. Upon further investigation the patient was diagnosed with autoimmune thyroiditis and antiphospholipid syndrome. To our knowledge, this is the first case of primary biliary cirrhosis - autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.

  9. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

    PubMed

    Killoran, C E; Abbott, M; McKusick, V A; Biesecker, L G

    2000-07-01

    The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say and Gerald in 1968 (Say B, Gerald PS. Lancet 1968: 2: 688). We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, renal anomalies, imperforate anus, and hypothalamic hamartoma. Truncation mutations in GL13, a zinc finger transcription factor gene, have been shown to cause PHS. We performed a molecular evaluation on a patient diagnosed with PIV, whose mother, grandfather, and maternal aunt had similar malformations. We sequenced the GLI3 gene in the patient to determine if she had a mutation. The patient was found to have a deletion in nucleotides 2188-2207 causing a frameshift mutation that predicts a truncated protein product of the gene. Later clinical studies demonstrated that the patient also has a hypothalamic hamartoma, a finding in PHS. We concluded that this family had atypical PHS and not PIV. This result has prompted us to re-evaluate the PIV literature to see if PIV is a valid entity. Based on these data and our examination of the literature, we conclude that PIV is not a valid diagnostic entity. We conclude that patients diagnosed with PIV should be reclassified as having VACTERL, or PHS, or another syndrome with overlapping malformations.

  10. Detection of Turner syndrome using X-chromosome inactivation specific differentially methylated CpG sites: A pilot study.

    PubMed

    Zhang, Qiang; Guo, Xiaohong; Tian, Tian; Wang, Teng; Li, Qiaoli; Wang, Lei; Liu, Yun; Xing, Qinghe; He, Lin; Zhao, Xinzhi

    2017-05-01

    Early diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. The candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay. X chromosome dosage was calculated according to the methylation level of multiple XIDMSs. Overall, 108 candidate XIDMSs were screened by the 450k array. Validations indicated that XIDMSs gathered and formed the X-chromosome inactivation specific differentially methylated regions (XIDMRs). Using 3 XIDMRs at SAT1, UXT and UTP14A loci, 36 TS, 22 normal female and 6 male samples were analyzed. Methylation levels of the 20 XIDMSs in the XIDMRs could distinguish between TS and normal female DNA samples, the X chromosome dosage was consistent with karyotyping data. Analyzing samples of 2 triple X syndrome and 3 Klinefelter syndrome patients suggested that this method could be used to detect X chromosome aneuploids other than TS. XIDMSs are widely spread along the X chromosome and might be effective markers for detection of TS and other X chromosome aneuploids. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Klippel–Trenaunay and Sturge–Weber overlap syndrome with phakomatosis pigmentovascularis

    PubMed Central

    Chhajed, Monika; Pandit, Sadbhavna; Dhawan, Neeraj; Jain, Amit

    2010-01-01

    Klippel–Trenaunay syndrome and Sturge–Weber syndrome are rare disorders with neurologic and cutaneous signs of vascular origin. Phakomatosis pigmentovascularis represents the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. We describe a case with features suggestive of overlap between them. A ten-month-old boy presented with seizures, developmental delay, skin lesions on face, trunk and legs, buphthalmos and right lower limb hypertrophy. CT scan of head showed atrophy of brain and calcification. Our case had overlap of Klippel–Trenaunay syndrome and Sturge–Weber syndrome with phakomatosis pigmentovascularis PMID:21559162

  12. Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene

    PubMed Central

    Nitschke, M; Steinberger, D; Heberlein, I; Otto, V; Muller, U; Vieregge, P

    1998-01-01

    A 26 year old woman with dopa responsive dystonia and cytogenetically confirmed Turner's syndrome had bilateral globus pallidus hypointensity on brain MRI. Among the living members of a five generation pedigree the patient's mother and the mother's sister also had dopa responsive dystonia; a maternal grandfather had senile parkinsonism, his niece isolated postural tremor. No other family member had Turner's syndrome. A new missense mutation in exon I of the gene of GTP-cyclohydrolase I was found in the three family members with dopa responsive dystonia. With levodopa substitution the patients with dopa responsive dystonia improved clinically as well as in quantitative tests on hand tapping, verbal and performance IQ, concept formation, and set shifting abilities.

 PMID:9647318

  13. Identification of a de novo inv dup(X)(pter--> q22) by multicolor banding in a girl with Turner syndrome.

    PubMed

    Burégio-Frota, P; Valença, L; Leal, G F; Duarte, A R; Bispo-Brito, A V S; Soares-Ventura, E M; Marques-Salles, T J; Nogueira, M T M C; Muniz, M T C; Silva, M L M; Hunstig, F; Liehr, T; Santos, N

    2010-04-27

    We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic karyotype of 46,X,dup(X)(q22)[35]/45,X[15], confirming the clinical suspicion of Turner syndrome. Molecular cytogenetics using a multicolor banding probe set for the X-chromosome characterized an inverted dup(X). The karyotype of the patient was therefore interpreted as 46,X,inv dup(X) (pter --> q22::q22 --> pter). This patient had a mosaic Turner syndrome with a cell line comprising partial trisomy Xpter to Xq22 and partial monosomy Xq22 to Xqter.

  14. [Mosaic isochromosome Xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract].

    PubMed

    Rojas Martínez, Jorge A; Acosta Guio, Johanna C

    2015-01-01

    The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.

  15. Elevated second-trimester maternal serum β-human chorionic gonadotropin and amniotic fluid alpha-fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome.

    PubMed

    Alvarez-Nava, Francisco; Soto, Marisol; Lanes, Roberto; Pons, Hector; Morales-Machin, Alisandra; Bracho, Ana

    2015-12-01

    The objective of this study was to determine the ability of biochemical analytes to identify adverse outcomes in pregnancies with Turner syndrome. Maternal serum and amniotic fluid (AF) marker concentrations were measured in 73 singleton pregnancies with Turner syndrome (10-22 weeks of gestation). Fetal Turner syndrome was definitively established by cytogenetic analysis. Two subgroups, fetuses with hydrops fetalis versus fetuses with cystic hygroma, were compared. Receiver operating characteristic curves and relative risk were established for a cut-off multiples of the median ≥3.5 for β-subunit of human chorionic gonadotropin (hCG) or AF alpha-fetoprotein (AFP). Forty-nine (67%) of 73 pregnant women had an abnormal maternal serum. While levels of pregnancy-associated plasma protein-A and free β-subunit (fβ)-hCG were not different to those of the control group, AFP, unconjugated estriol and β-hCG concentrations were significantly different in the study group (P < 0.05), when compared to those of unaffected pregnancies. Levels of β-hCG in pregnancies with hydrops fetalis were significantly higher than in those with cystic hygroma (P <0.0001), as were AF-AFP concentrations (P <0.0015). In addition, abnormalities in both maternal serum β-hCG and AF-AFP predicted fetal death. The relative risk of adverse obstetric outcome was 10.667 (P = 0.0004; 95% confidence interval [CI]: 1.554-73.203) for β-hCG and 2.19 (P = 0.0256; 95% CI: 1.001 to 4.779), for AF-AFP. Maternal serum β-hCG and AF-AFP levels may preferentially identify those Turner syndrome pregnancies with the highest risk of fetal death. © 2015 Japan Society of Obstetrics and Gynecology.

  16. [Chronic hepatitis C/autoimmune hepatitis overlap syndrome: report of two cases].

    PubMed

    Vella, Francesco Saverio; Simone, Barbara; Orlando, Pierluigi; Simone, Olivia; Antonaci, Salvatore

    2004-10-01

    The coexistence of non-organ specific autoantibodies and chronic hepatitis C features raises the dilemma as to whether the pathogenesis is viral or autoimmune and consequently to be treated with interferon or corticosteroids. Two cases with autoimmune characteristics and chronic hepatitis C are reported. We discuss the possibility of classifying this overlap form in three distinct entities: viral disease with an autoimmune epiphenomenon ("false hepatitis C/autoimmune hepatitis overlap syndrome"), viral disease associated to an autoimmune pathogenic component ("true hepatitis C/autoimmune hepatitis overlap syndrome") and false serological anti-HCV positivity in classical autoimmune hepatitis. In our experience the interferon/corticosteroid association was successful.

  17. Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk.

    PubMed

    Baer, Tamar G; Freeman, Christopher E; Cujar, Claudia; Mansukhani, Mahesh; Singh, Bahadur; Chen, Xiaowei; Abellar, Rosanna; Oberfield, Sharon E; Levy, Brynn

    2017-06-15

    Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du-plicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue. © 2017 S. Karger AG, Basel.

  18. Case report: a successful pregnancy outcome in a patient with non-mosaic Turner syndrome (45, X) via in vitro fertilization.

    PubMed

    Sugawara, Nobuo; Kimura, Yasuyuki; Araki, Yasuhisa

    2013-03-01

    We describe a successful pregnancy outcome in a patient with non-mosaic Turner syndrome (45, X) via in vitro fertilization. The patient achieved a second pregnancy at 35 years of age. The her blood lymphocyte karyotype was examined by G-band and FISH. Furthermore, cumulus cells and her elbow skin cells were evaluated via FISH. Non-mosaic Turner syndrome was determined by G-banding [100 % (50/50) 45, X]. Lymphocytes were shown as 478/500 (95.6 %) cells of X sex chromosome signal, 15/500 (3.0 %) cells of XXX signal, and 7/500 (1.4 %) cells of XX signal. The cumulus cells were mosaic: 152/260 (58.5 %) were X; 84/260 (32.3 %) were XXX, 20/260 (7.7 %) were XX, and 4/260 (1.5 %) were XY. Moreover, skin cells included a mosaic karyotype [47, XXX(29)/46, XX(1)]. We conclude that the collection of a large number of blood lymphocytes can reveal different mosaic patterns (X, XX and XXX) by FISH in spite of non-mosaic Turner syndrome.

  19. Turner syndrome and schizophrenia: a further hint for the role of the X-chromosome in the pathogenesis of schizophrenic disorders.

    PubMed

    Roser, Patrik; Kawohl, Wolfram

    2010-03-01

    Abnormalities of sex chromosomes are associated with various forms of neuropsychiatric disorders, such as schizophrenia. Turner syndrome occurs approximately threefold more frequently in female schizophrenics compared to the general female population. A single case is reported. We report on a case of a 41-year-old woman with Turner syndrome, schizophrenia, mental retardation, and hypothyroidism. A polymorphism of the HOPA gene within Xq13 termed HOPA(12bp) is associated with schizophrenia, mental retardation, and hypothyroidism. Interestingly, Xq13 is the X-chromosome region that contains the X-inactivation center and a gene escaping X-inactivation whose gene product may be involved in the X-inactivation process as well as in the pathogenesis of sex chromosome anomalies such as Turner syndrome. These genes that escape X-inactivation may produce their gene products in excess, influencing normal brain growth and differentiation. Our case gives a further hint for an involvement of the X-chromosome in the pathogenesis of schizophrenia.

  20. Overlap syndromes: the International Autoimmune Hepatitis Group (IAIHG) position statement on a controversial issue.

    PubMed

    Boberg, Kirsten Muri; Chapman, Roger W; Hirschfield, Gideon M; Lohse, Ansgar W; Manns, Michael P; Schrumpf, Erik

    2011-02-01

    Some patients present with overlapping features between disorders within the spectrum of autoimmune liver diseases (i.e. autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC)) and are commonly classified as having an "overlap syndrome". Standardized definitions of "overlap syndromes" are lacking. The aim of this report by the International Autoimmune Hepatitis Group (IAIHG) is to evaluate if there are important reasons to classify conditions with overlapping features between autoimmune liver diseases as separate diagnostic entities. Definition of diagnostic criteria for overlap conditions can only be arbitrary. The IAIHG scoring system for diagnosis of AIH has been widely used to diagnose "overlap syndromes", but was not intended for such use and has not proven to be an efficient tool for this purpose. Some patients with overlapping features between a cholestatic and hepatitic disorder appear to benefit from treatment with a combination of ursodeoxycholic acid and immunosuppressants, but this strategy is not evidence-based, and it seems unjustified to define new diagnostic groups in this regard. The IAIHG suggests that patients with autoimmune liver disease should be categorized according to the predominating feature(s) as AIH, PBC, and PSC/small duct PSC, respectively, and that those with overlapping features are not considered as being distinct diagnostic entities. The IAIHG scoring system should not be used to establish subgroups of patients. Patients with PBC and PSC with features of AIH should be considered for immunosuppressive treatment. Due to the low prevalence of such "overlap syndromes", prospective interventional therapeutic trials cannot be expected in the foreseeable future.

  1. Innumerable Liver Masses in a Patient with Autoimmune Hepatitis and Primary Sclerosing Cholangitis Overlap Syndrome.

    PubMed

    Gharibpoor, Alireza; Mansour-Ghanaei, Fariborz; Sadeghi, Mahbobe; Gharibpoor, Faeze; Joukar, Farahnaz; Mavaddati, Sara

    2017-02-07

    BACKGROUND In patients with the diagnosis of autoimmune hepatitis (AIH), the presence of cholestatic features raise the possibility of an overlap syndrome with primary sclerosing cholangitis (PSC). Here, we present a unique case with AIH-PSC overlap syndrome and innumerable liver masses. CASE REPORT A 26-year-old man presented with generalized icterus. Based on the serological findings of hypergamainmunoglobulinemia and positive anti-nuclear antibody tests, together with an abnormal cholangiogram, he was diagnosed with overlap syndrome (AIH-PSC). Liver imaging revealed innumerable liver masses with a benign appearance in the pathological evaluation. To rule out the colon abnormalities that usually coexist with such liver masses, colonoscopy was performed and showed no significant changes. The liver masses were nonmalignant and were resolved after immunosuppressant therapy. CONCLUSIONS Because AIH-PSC overlap syndrome is rare, it is suggested that radiological evaluation of the biliary tree should be performed routinely in adults diagnosed with AIH to reduce the missed diagnosis of overlap syndrome and liver masses.

  2. The clinical and genetic features of the COPD asthma overlap syndrome

    PubMed Central

    Hardin, Megan; Cho, Michael; McDonald, Merry-Lynn; Beaty, Terri; Ramsdell, Joe; Bhatt, Surya; van Beek, Edwin J. R.; Make, Barry J.; Crapo, James D.; Silverman, Edwin K.; Hersh, Craig P.

    2014-01-01

    Background Individuals with COPD and asthma are an important but poorly characterized group. The genetic determinants of COPD-asthma overlap have not been studied. Objective Identify clinical features and genetic risk factors for COPD-asthma overlap. Methods Subjects were current or former smoking non-Hispanic whites (NHW) or African-Americans (AA) with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the NHW and AA populations, and combined these results in a meta-analysis. Results More women and African Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema, and greater airway wall thickness compared to subjects with COPD alone. The NHW GWAS identified SNPs in CSMD1 (rs11779254, P=1.57×10−6) and SOX5(rs59569785, P=1.61×10−6) and the meta-analysis identified SNPs in the gene GPR65 (rs6574978, P=1.18×10−7) associated with COPD-asthma overlap. Conclusions Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD-asthma overlap is an important syndrome and may require distinct clinical management. PMID:24876173

  3. PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome

    SciTech Connect

    Coto, E.; Menendez, M.J.; Lopez-Larrea, C.

    1995-07-03

    The presence of Y chromosome sequences in Ullrich-Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with several Y chromosome probes and PCR of specific sequences) identified the presence of Y chromosome material in about 40% of 45, X patients. We have developed a very sensitive, PCR-based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carrying a Y sequence among 10{sup 5} Y-negative cells. We studied 18 UTS patients with 4 Y-specific sequences. In 11 patients we detected a positive amplification for at least one Y sequence. The existence of a simple and sensitive method for the detection of Y sequences has important implications for UTS patients, in view of the risk for some of the females carrying Y chromosome material of developing gonadoblastoma and virilization. Additionally, some of the UTS-associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome-specific sequences. 27 refs., 2 figs., 1 tab.

  4. Cardiac MRI and 3D contrast-enhanced MR angiography in pediatric and young adult patients with Turner syndrome.

    PubMed

    Yiğit, Hasan; Önder, Aşan; Özgür, Senem; Aycan, Zehra; Karademir, Selmin; Doğan, Vehbi

    2017-02-27

    This study aimed to describe the spectrum and frequency of cardiovascular abnormalities in pediatric and young adult patients with Turner syndrome (TS) using cardiac MRI and MR angiography. This prospective study consisted of 47 female patients of pediatric age and young adults with a karyotypically confirmed diagnosis of TS. All patients underwent cardiac MRI and contrast-enhanced MR angiography. A second examination after 9-26 months was performed for 28 of these patients. Elongation of the transverse aortic arch (ETA) was the most frequent abnormality with a rate of 37%. The rate of partial anomalous pulmonary venous connection (PAPVC) was 21.7%, bicuspid aortic valve (BAV) was 19.6%, coarctation was 6.5%, ascending aorta dilatation was 28.3%, and descending aorta dilatation was 15.2%. The diameters of the aorta and the rate of aortic dilatation per unit of time was greater in the patients with BAV (P < 0.05). ETA was less observed in the patients who were receiving growth hormone therapy (P < 0.05). The most common cardiovascular abnormalities in TS patients are aortic arch anomalies such as ETA and coarctation, aortic dilatation, PAPVCs, and BAV. The presence of BAV is an important risk factor for the aortic dilatation.

  5. The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype.

    PubMed

    Aversa, Tommaso; Messina, Maria Francesca; Mazzanti, Laura; Salerno, Mariacarolina; Mussa, Alessandro; Faienza, Maria Felicia; Scarano, Emanuela; De Luca, Filippo; Wasniewska, Malgorzata

    2015-12-01

    Only few studies have investigated to now whether the association with Turner syndrome (TS) may affect the course of Hashimoto's thyroiditis (HT) in children. Aim of this study was to ascertain whether the presentation and long-term course of HT in TS children may be characterized by a peculiar and atypical pattern. The clinical and biochemical findings at HT diagnosis in 90 TS children (group A) were compared with those recorded in 449 girls with HT but without TS (group B); in group A patients, thyroid function tests were re-evaluated after a median time interval of 4.9 years. At HT diagnosis median TSH levels and the rate of cases presenting with a thyroid dysfunction picture were significantly lower in group A, irrespective of karyotype abnormalities. In group A only 34.8 % of the girls who had initially presented with euthyroidism remained euthyroid even at re-evaluation, whilst 67.7 % of those who had presented with subclinical hypothyroidism became overtly hypothyroid over time; also such evolutive pattern was irrespective of karyotype abnormalities. (1) In TS girls, HT presents with a milder hormonal pattern, which often deteriorates over time; (2) these biochemical features are not necessarily linked with a specific karyotype.

  6. Effects of X-Monosomy and X-Linked Imprinting on Superior Temporal Gyrus Morphology in Turner Syndrome

    PubMed Central

    Kesler, Shelli R.; Blasey, Christine M.; Brown, Wendy E.; Yankowitz, Jerome; Zeng, She Min; Bender, Bruce G.; Reiss, Allan L.

    2011-01-01

    Background Turner syndrome (TS) results from complete or partial monosomy X. The cognitive phenotype of TS involves preservation of verbal skills with visuospatial functioning deficits. The superior temporal gyrus (STG), which is involved in language capacities, has not been investigated in TS. Methods The STG was measured in 30 female subjects (mean age = 14.73 ± 6.41; range = 7.56 –33.30) with TS and 30 age-matched control subjects (mean age = 14.63 ± 5.90; range = 6.35–32.65) using volumetric magnetic resonance imaging analyses. Results Right STG, including both gray and white matter volumes, was significantly larger in TS compared with control subjects. Overall left STG volume was not significantly different between groups, although left white matter volume was increased in the TS subjects. The TS subgroup with a maternally derived X chromosome (Xm) demonstrated more aberrant STG volumes compared with subjects with a paternally (Xp) derived X and control subjects. The difference in STG volumes between Xm and control subjects involved both white and gray matter. The Xm subjects differed from Xp subjects only in terms of gray matter. Conclusions These findings suggest that X-monosomy and X-linked imprinting negatively affect STG development, possibly by disrupting neural pruning mechanisms. PMID:13129659

  7. Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.

    PubMed

    MacMahon, Jayne M; O'Sullivan, Maureen J; McDermott, Michael; Quinn, Feargal; Morris, Thomas; Green, Andrew J; Betts, David R; O'Connell, Susan M

    2017-01-01

    Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed. However, interphase FISH of buccal cells showed only the presence of the 45,X cell line. Due to the presence of Y chromosome material, elective gonadectomy was performed at 13 months of age. There were bilateral streak ovaries with early evidence of GB bilaterally, a rudimentary uterus and bilateral fallopian tubes with unilateral ectopic adrenal tissue identified histologically. Interphase FISH of the gonadal tissue was similar to the blood findings with 45,X in 86% of cells and 47,XY,+18 in 14% of cells analysed. This case highlights a rare karyotype of TSM and trisomy 18 in the same patient and is the first reporting the associated finding of bilateral GB. © 2016 S. Karger AG, Basel.

  8. The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome

    PubMed Central

    Noël, Marie-Pascale; Nassogne, Marie-Cécile; Rousselle, Laurence

    2017-01-01

    Most studies on magnitude representation have focused on the visual modality with no possibility of disentangling the influence of visuo-spatial skills and short-term memory (STM) abilities on quantification processes. This study examines this issue in patients with Turner syndrome (TS), a genetic condition characterized by a specific cognitive profile frequently associating poor mathematical achievement, low spatial skills and reduced STM abilities. In order to identify the influence of visuo-spatial and STM processing on numerical magnitude abilities, twenty female participants with TS and twenty control female participants matched for verbal IQ and education level were administered a series of magnitude comparison tasks. The tasks differed on the nature of the magnitude to be processed (continuous, discrete and symbolic magnitude), on visuo-spatial processing requirement (no/high) and on STM demands (low in simultaneous presentation vs. high in sequential presentation). Our results showed a lower acuity when participants with TS compared the numerical magnitudes of stimuli presented sequentially (low visuo-spatial processing and high STM load: Dot sequence and Sound sequence) while no difference was observed in the numerical comparison of sets presented simultaneously. In addition, the group difference in sequential tasks disappeared when controlling for STM abilities. Finally, both groups demonstrated similar performance when comparing continuous or symbolic magnitude stimuli and they exhibited comparable subitizing abilities. These results highlight the importance of STM abilities in extracting numerosity through a sequential presentation and underline the importance of considering the impact of format presentation on magnitude judgments. PMID:28222116

  9. Amygdala and hippocampal volumes in Turner syndrome: a high-resolution MRI study of X-monosomy.

    PubMed

    Kesler, Shelli R; Garrett, Amy; Bender, Bruce; Yankowitz, Jerome; Zeng, She Min; Reiss, Allan L

    2004-01-01

    Turner syndrome (TS) results from partial or complete X-monosomy and is characterized by deficits in visuospatial functioning as well as social cognition and memory. Neuroimaging studies have demonstrated volumetric differences in the parietal region of females with TS compared to controls. The present study examined amygdala and hippocampus morphology in an attempt to further understand the neural correlates of psychosocial and memory functioning in TS. Thirty females with TS age 7.6-33.3 years (mean = 14.7 +/- 6.4) and 29 age-matched controls (mean age = 14.8 +/- 5.9; range = 6.4-32.7) were scanned using high resolution MRI. Volumetric analyses of the MRI scans included whole brain segmentation and manual delineation of the amygdala and hippocampus. Compared to controls, participants with TS demonstrated significantly larger left amygdala gray matter volumes, irrespective of total cerebral tissue and age. Participants with TS also showed disproportionately reduced right hippocampal volumes, involving both gray and white matter. Amygdala and hippocampal volumes appear to be impacted by X-monosomy. Aberrant morphology in these regions may be related to the social cognition and memory deficits often experienced by individuals with TS. Further investigations of changes in medial temporal morphology associated with TS are warranted.

  10. Analysis of Turner syndrome patients within the Jordanian population, with a focus on four patients with Y chromosome abnormalities.

    PubMed

    Daggag, H; Srour, W; El-Khateeb, M; Ajlouni, K

    2013-01-01

    This study presents findings in Turner syndrome (TS) patients from the Jordanian population, with focus on 4 patients with Y chromosomal abnormalities. From 1989 to 2011, 504 patients with TS stigmata were referred to our institute for karyotyping, resulting in 142 positive TS cases. Of these, 62 (43.7%) had the typical 45,X karyotype and the remaining individuals (56.3%) were found to be mosaics. Fifteen TS patients (10.5%) carried a structural abnormality of the Y chromosome and presented with the mosaic 45,X/46,XY karyotype. From these, 4 TS cases were investigated further. Karyotyping revealed that 1 patient carried a small supernumerary marker chromosome, whereas cytogenetic and molecular analyses showed that 3 patients carried 2 copies of the SRY gene. Further analysis by SRY sequencing revealed no mutations within the gene. The analyzed patients were found to be phenotypically either females or males, depending on the predominance of the cell line carrying the Y chromosome. This study demonstrates the importance of detailed cytogenetic analysis (such as FISH) in TS patients, and it also emphasizes the need for molecular analysis (such as PCR and sequencing) when fragments of the Y chromosome are present.

  11. Moving toward an understanding of hormone replacement therapy in adolescent girls: looking through the lens of Turner syndrome.

    PubMed

    Davenport, Marsha L

    2008-01-01

    Turner syndrome (TS) is a relatively common disorder of phenotypic females caused by loss of all or part of the second sex chromosome. Most individuals with TS have short stature and gonadal dysgenesis and are at risk for many other medical and learning problems. In the 45,X ovary, germs cells multiply quite normally during fetal development, but there is accelerated atresia of oocytes in the second half of pregnancy that produces gonadal insufficiency by birth. In girls with other karyotypes, especially those mosaic for 45,X/46,XX, gonadal function may be normal or near-normal. In this chapter, management goals for gonadal insufficiency in girls with TS are presented. The effects of estrogen deficiency and its replacement on three specific problems associated with TS-short stature, cardiovascular disease, and developmental differences in brain structure and function-are explored. General guidelines for estrogen replacement therapy using transdermal estrogen, the most physiologic option, are provided and future research goals are outlined.

  12. The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome.

    PubMed

    Attout, Lucie; Noël, Marie-Pascale; Nassogne, Marie-Cécile; Rousselle, Laurence

    2017-01-01

    Most studies on magnitude representation have focused on the visual modality with no possibility of disentangling the influence of visuo-spatial skills and short-term memory (STM) abilities on quantification processes. This study examines this issue in patients with Turner syndrome (TS), a genetic condition characterized by a specific cognitive profile frequently associating poor mathematical achievement, low spatial skills and reduced STM abilities. In order to identify the influence of visuo-spatial and STM processing on numerical magnitude abilities, twenty female participants with TS and twenty control female participants matched for verbal IQ and education level were administered a series of magnitude comparison tasks. The tasks differed on the nature of the magnitude to be processed (continuous, discrete and symbolic magnitude), on visuo-spatial processing requirement (no/high) and on STM demands (low in simultaneous presentation vs. high in sequential presentation). Our results showed a lower acuity when participants with TS compared the numerical magnitudes of stimuli presented sequentially (low visuo-spatial processing and high STM load: Dot sequence and Sound sequence) while no difference was observed in the numerical comparison of sets presented simultaneously. In addition, the group difference in sequential tasks disappeared when controlling for STM abilities. Finally, both groups demonstrated similar performance when comparing continuous or symbolic magnitude stimuli and they exhibited comparable subitizing abilities. These results highlight the importance of STM abilities in extracting numerosity through a sequential presentation and underline the importance of considering the impact of format presentation on magnitude judgments.

  13. Estradiol levels in girls with Turner's syndrome compared to normal prepubertal girls as determined by an ultrasensitive assay.

    PubMed

    Wilson, Courtnay A; Heinrichs, Claudine; Larmore, Kimberly A; Craen, Marguerita; Brown-Dawson, Jacquelyn; Shaywitz, Sally; Ross, Judith; Klein, Karen Oerter

    2003-01-01

    Based on growing evidence that estradiol is produced in small amounts even in the prepubertal ovary, we hypothesized that estradiol levels in girls with Turner's syndrome (TS) are lower than in normal prepubertal girls secondary to the lack of normally functioning ovaries. Estradiol levels in untreated girls with TS have not been previously well defined because of the lack of adequate sensitivity of previously available estradiol assays. We utilized an ultrasensitive assay to study estradiol levels in 34 girls with TS and 34 normal age-matched prepubertal girls between the ages of 5 and 12 years. The average estradiol level in the girls with TS (6.4 +/- 4.9 pmol/l estradiol equivalents) was significantly lower than in the normal prepubertal girls (12.7 +/- 10.8 pmol/l estradiol equivalents; p < 0.01). Girls with TS were significantly shorter, and weighed less than the normal prepubertal girls, as expected. The estradiol level was not significantly correlated with height, bone age, or degree of bone age delay. In conclusion, girls with TS have significantly lower estradiol levels than normal age-matched prepubertal girls. This report is consistent with the hypothesis that the lack of normal ovarian function in girls with TS is evident even before puberty.

  14. Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case.

    PubMed

    Bispo, Adriana Valéria Sales; Burégio-Frota, Pollyanna; Oliveira dos Santos, Luana; Leal, Gabriela Ferraz; Duarte, Andrea Rezende; Araújo, Jacqueline; Cavalcante da Silva, Vanessa; Muniz, Maria Tereza Cartaxo; Liehr, Thomas; Santos, Neide

    2014-10-01

    Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.

  15. The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.

    PubMed Central

    Mathur, A; Stekol, L; Schatz, D; MacLaren, N K; Scott, M L; Lippe, B

    1991-01-01

    We have used X- and Y-linked RFLPs to determine the origin of the single X chromosome in 25 live-born individuals with Turner syndrome. We determined that 18 individuals retained a maternal X (Xm) and that seven retained the paternal X (Xp). No occult mosaicism was detected. We found no differences in either maternal or paternal ages for the two groups. The ratio of maternal X to paternal X is just over 2:1, which is consistent with the expected proportion of meiotic or mitotic products, with equal loss at each step, given the nonviability of 45,Y. Six phenotypic or physiologic characteristics were assessed: (1) birth weight, (2) height percentile at time of testing, (3) presence of a webbed neck, (4) cardiovascular abnormalities, (5) renal abnormalities, and (6) thyroid autoimmunity. There were no significant differences in birth weights or heights between the girls who retained the maternal X or the paternal X. In addition, no differences between the groups could be appreciated in the incidence of the physical, anatomic, or physiologic parameters assessed. Images Figure 1 PMID:1673045

  16. Comparison of body surface area versus weight-based growth hormone dosing for girls with Turner syndrome.

    PubMed

    Schrier, Lenneke; de Kam, Marieke L; McKinnon, Rachel; Che Bakri, Amalina; Oostdijk, Wilma; Sas, Theo C J; Menke, Leonie A; Otten, Barto J; de Muinck Keizer-Schrama, Sabine M P F; Kristrom, Berit; Ankarberg-Lindgren, Carina; Burggraaf, Jacobus; Albertsson-Wikland, Kerstin; Wit, Jan M

    2014-01-01

    Growth Hormone (GH) dosage in childhood is adjusted for body size, but there is no consensus whether body weight (BW) or body surface area (BSA) should be used. We aimed at comparing the biological effect and cost-effectiveness of GH treatment dosed per m2 BSA in comparison with dosing per kg BW in girls with Turner syndrome (TS). Serum IGF-I, GH dose, and adult height gain (AHG) from girls participating in two Dutch and five Swedish studies on the efficacy of GH were analyzed, and the cumulative GH dose and costs were calculated for both dose adjustment methods. Additional medication included estrogens (if no spontaneous puberty occurred) and oxandrolone in some studies. At each GH dose, the serum IGF-I standard deviation score remained stable over time after an initial increase after the start of treatment. On a high dose (at 1 m2 equivalent to 0.056-0.067 mg/kg/day), AHG was at least equal on GH dosed per m2 BSA compared with dosing per kg BW. The cumulative dose and cost were significantly lower if the GH dose was adjusted for m2 BSA. Dosing GH per m2 BSA is at least as efficacious as dosing per kg BW, and is more cost-effective. © 2014 S. Karger AG, Basel.

  17. Orthostatic intolerance: postural orthostatic tachycardia syndrome with overlapping vasovagal syncope.

    PubMed

    Skerk, Vedrana; Pintarić, Hrvoje; Delić-Brkljacić, Diana; Popović, Zvonimir; Hećimović, Hrvoje

    2012-03-01

    A 28-year-old female with a history of situational syncope and a new-onset right sided hemiparesis is described. Tilt-up table test revealed the postural orthostatic tachycardia syndrome followed by vasovagal syncope. Neurological and internal medicine tests showed no particular disorders. The patient underwent autonomic physical training and the tilt-up test performed three months later showed improvement of the autonomic system in terms of lower heart beat rate of the postural orthostatic tachycardia syndrome and longer duration of the test. This case report describes longstanding idiopathic dysautonomia that can be improved by nonpharmacological treatment, while reminding that this medical condition may also be the cause of syncope.

  18. Innumerable Liver Masses in a Patient with Autoimmune Hepatitis and Primary Sclerosing Cholangitis Overlap Syndrome

    PubMed Central

    Gharibpoor, Alireza; Mansour-Ghanaei, Fariborz; Sadeghi, Mahbobe; Gharibpoor, Faeze; Joukar, Farahnaz; Mavaddati, Sara

    2017-01-01

    Patient: Male, 26 Final Diagnosis: AIH-PSC overlap syndrome Symptoms: Palpable liver more than 5 cm below the costal margin and both firm and nodular • 8-kg weight loss during the last 2 months • clay-colored stool • dark urine • general fatigue • generalized icterus • light abdominal tenderness in the right upper quadrant with isolated hepatomegaly • loss of appetite • neither spider angioma nor stigmata • no clinical evidence of ascites or lymphadenopathy • non-specific abdominal discomfort • normoactive bowel sound • pruritus Medication: — Clinical Procedure: Lab tests • MRCP • Pathological analysis Specialty: Gastroenterology and Hepatology Objective: Challenging differential diagnosis Background: In patients with the diagnosis of autoimmune hepatitis (AIH), the presence of cholestatic features raise the possibility of an overlap syndrome with primary sclerosing cholangitis (PSC). Here, we present a unique case with AIH-PSC overlap syndrome and innumerable liver masses. Case Report: A 26-year-old man presented with generalized icterus. Based on the serological findings of hypergamainmunoglobulinemia and positive anti-nuclear antibody tests, together with an abnormal cholangiogram, he was diagnosed with overlap syndrome (AIH-PSC). Liver imaging revealed innumerable liver masses with a benign appearance in the pathological evaluation. To rule out the colon abnormalities that usually coexist with such liver masses, colonoscopy was performed and showed no significant changes. The liver masses were nonmalignant and were resolved after immunosuppressant therapy. Conclusions: Because AIH-PSC overlap syndrome is rare, it is suggested that radiological evaluation of the biliary tree should be performed routinely in adults diagnosed with AIH to reduce the missed diagnosis of overlap syndrome and liver masses. PMID:28167813

  19. Association of Primary Biliary Cirrhosis-autoimmune Hepatitis Overlap Syndrome with Immune Thrombocytopenia and Graves' Disease.

    PubMed

    Koyamada, Ryosuke; Higuchi, Takakazu; Kitada, Ayako; Nakagawa, Tomoko; Ikeya, Takashi; Okada, Sadamu; Fujita, Yoshiyuki

    2015-01-01

    A 54-year-old woman suffering from pruritus for five years was diagnosed to have Graves' disease and immune thrombocytopenia (ITP) associated with primary biliary cirrhosis (PBC)-autoimmune hepatitis (AIH) overlap syndrome, which was confirmed histologically after a prompt recovery in the platelet count number following steroid therapy. The association between PBC-AIH overlap syndrome and ITP has been rarely reported and the additional association with Graves' disease has not yet been reported. An underlying global derangement of autoimmunity or shared genetic susceptibility was suspected.

  20. Diagnostic Dilemmas: Overlapping Features of Brugada Syndrome and Arrhythmogenic Right Ventricular Cardiomyopathy

    PubMed Central

    Hoogendijk, Mark G.

    2012-01-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Brugada syndrome are distinct clinical entities which diagnostic criteria exclude their coexistence in individual patients. ARVC is a myocardial disorder characterized by fibro-fatty replacement of the myocardium and ventricular arrhythmias. In contrast, the Brugada syndrome has long been considered a functional cardiac disorder: no gross structural abnormalities can be identified in the majority of patients and its electrocardiographic hallmark of coved-type ST-segment elevation in right precordial leads is dynamic. Nonetheless, a remarkable overlap in clinical features has been demonstrated between these conditions. This review focuses on this overlap and discusses its potential causes and consequences. PMID:22654761

  1. Therapeutic approaches in myelofibrosis and myelodysplastic/myeloproliferative overlap syndromes

    PubMed Central

    Sochacki, Andrew L; Fischer, Melissa A; Savona, Michael R

    2016-01-01

    The discovery of JAK2V617F a decade ago led to optimism for a rapidly developing treatment revolution in Ph− myeloproliferative neoplasms. Unlike BCR–ABL, however, JAK2 was found to have a more heterogeneous role in carcinogenesis. Therefore, for years, development of new therapies was slow, despite standard treatment options that did not address the overwhelming symptom burden in patients with primary myelofibrosis (MF), post-essential thrombocythemia MF, post-polycythemia vera MF, and myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) syndromes. JAK–STAT inhibitors have changed this, drastically ameliorating symptoms and ultimately beginning to show evidence of impact on survival. Now, the genetic foundations of myelofibrosis and MDS/MPN are rapidly being elucidated and contributing to targeted therapy development. This has been empowered through updated response criteria for MDS/MPN and refined prognostic scoring systems in these diseases. The aim of this article is to summarize concisely the current and rationally designed investigational therapeutics directed at JAK–STAT, hedgehog, PI3K–Akt, bone marrow fibrosis, telomerase, and rogue epigenetic signaling. The revolution in immunotherapy and novel treatments aimed at previously untargeted signaling pathways provides hope for considerable advancement in therapy options for those with chronic myeloid disease. PMID:27143923

  2. Paracetamol induced Stevens-Johnson syndrome--toxic epidermal necrolysis overlap syndrome.

    PubMed

    Biswal, Sasmita; Sahoo, Swayam Sourav

    2014-08-01

    Though any drug can be a potential cause of such hypersensitivity reactions, paracetamol, an over-the-counter drug used extensively as an analgesic and antipyretic agent, is considered to be relatively safe, with hepatotoxicity as a major adverse effect only in large doses. We report an instance of a severe case of SJS-TEN overlap syndrome in a 12-year-old girl, induced by three over-the-counter doses of 500 mg of paracetamol taken at 8-hour intervals for fever. Stevens-Johnson Syndrome and its severe variant toxic epidermal necrolysis (TEN) are idiosyncratic, delayed hypersensitivity inflammatory adverse drug reactions that are associated with increased morbidity and mortality. However, treatment with antibiotics and intravenous corticosteroids along with supportive therapy improved the course of the disorder. This case report addresses the fact that severe hypersensitivity reactions can occur with paracetamol, which can be potentially dangerous and life threatening. It is hence important for the clinicians to be alert to such severe hypersensitivity reactions even with drugs which are considered to be potentially safe such as paracetamol. © 2013 The International Society of Dermatology.

  3. Risk of Malignancy and Need for Surgery in Pediatric Patients with Morris or Y-chromosome Turner Syndrome: A Multicenter Survey.

    PubMed

    Esposito, Ciro; Escolino, Maria; Bagnara, Vincenzo; Eckoldt-Wolke, Felicitas; Baglaj, Maciej; Saxena, Amulya; Patkowski, Dariusz; Schier, Felix; Settimi, Alessandro; Martelli, Helene; Savanelli, Antonio

    2015-10-01

    The management of intersex patients with Y-chromosome Turner or Morris syndrome remains a challenge. We report our experience with a multicenter European survey. We collected the data on 18 patients (mean age 10.2 years, range 2-17 years) with Morris (10 patients) or Turner (8 patients) syndrome harboring the Y chromosome who were treated in 1 of 6 European centers of pediatric surgery between 1997 and 2013. All patients were evaluated by use of a multidisciplinary diagnostic protocol. All patients received a bilateral gonadectomy via laparoscopy; only 1 center performed ovarian cryopreservation. Seven patients received a concomitant genitoplasty. Operative notes and histology were reviewed for details. No conversions to laparotomy and no complications were recorded. For the patients receiving only the gonadectomy, the length of hospital stay was 24-48 hours, whereas for the patients receiving an associated genitoplasty, it was 6-10 days. Specimens were negative for tumors in 83.3% of cases, whereas in 3 patients (16.6%), benign abnormalities (Sertoli cell hyperplasia in 1 patient and ovotestis in 2 patients) were recorded. A malignant tumor was not recorded in our series. If the risk of malignancy is considered as the main indication for surgery in case of Turner or Morris syndrome, on the basis of our study, this indication should be reevaluated. However, based on the non-negligible rate of benign abnormalities reported in our series (16.6%), the performance of cryopreservation to preserve fertility and the possibility of performing genitoplasty during the same anesthetic procedure represent additional valid indications for surgery. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  4. Effect of estrogen replacement therapy on bone and cardiovascular outcomes in women with turner syndrome: a systematic review and meta-analysis.

    PubMed

    Cintron, Dahima; Rodriguez-Gutierrez, Rene; Serrano, Valentina; Latortue-Albino, Paula; Erwin, Patricia J; Murad, Mohammad Hassan

    2017-02-01

    Patients with Turner syndrome have adverse bone and cardiovascular outcomes from chronic estrogen deficiency. Hence, long-term estrogen replacement therapy is the cornerstone treatment. The estimates of its effect and optimal use, however, remain uncertain. We aimed to summarize the benefits and harms of estrogen replacement therapy on bone, cardiovascular, vasomotor and quality of life outcomes in patients with Turner syndrome. A comprehensive search of four databases was performed from inception through January 2016. Randomized clinical trials and observational cohort studies studying the effect of estrogen replacement therapy in patients with Turner syndrome under the age of 40 were included. Independently and in duplicate reviewers selected studies, extracted data and assessed risk of bias. Subgroup analyses were based on route of administration and type of estrogen formulation. Twenty-five studies at moderate to high risk of bias (12 randomized trials, 13 cohort studies) with 771 patients were included. Using random-effects models, estrogen replacement therapy showed an increase in bone mineral density [weighted mean change from baseline 0.09 g/cm2 (0.04-0.14)] that differed by type of estrogen but not route of administration. Oral estrogen replacement therapy showed a higher increase in high density lipoprotein cholesterol levels when compared to transdermal [weighted mean difference 9.33 mg/dl (4.82-13.85)] with no significant effect on other lipid fractions. The current evidence suggests possible benefit of estrogen replacement therapy on bone mineral density and high density lipoprotein cholesterol. Whether this improvement translates into changes in patient important outcomes (cardiovascular events or fractures) remains uncertain. Larger randomized clinical trials with direct comparisons on patient important outcomes are necessary.

  5. Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study

    PubMed Central

    2010-01-01

    Background To investigate aortic dimensions in women with Turner syndrome (TS) in relation to aortic valve morphology, blood pressure, karyotype, and clinical characteristics. Methods and results A cross sectional study of 102 women with TS (mean age 37.7; 18-62 years) examined by cardiovascular magnetic resonance (CMR- successful in 95), echocardiography, and 24-hour ambulatory blood pressure. Aortic diameters were measured by CMR at 8 positions along the thoracic aorta. Twenty-four healthy females were recruited as controls. In TS, aortic dilatation was present at one or more positions in 22 (23%). Aortic diameter in women with TS and bicuspid aortic valve was significantly larger than in TS with tricuspid valves in both the ascending (32.4 ± 6.7 vs. 26.0 ± 4.4 mm; p < 0.001) and descending (21.4 ± 3.5 vs. 18.8 ± 2.4 mm; p < 0.001) aorta. Aortic diameter correlated to age (R = 0.2 - 0.5; p < 0.01), blood pressure (R = 0.4; p < 0.05), a history of coarctation (R = 0.3; p = 0.01) and bicuspid aortic valve (R = 0.2-0.5; p < 0.05). Body surface area only correlated with descending aortic diameter (R = 0.23; p = 0.024). Conclusions Aortic dilatation was present in 23% of adult TS women, where aortic valve morphology, age and blood pressure were major determinants of the aortic diameter. PMID:20222980

  6. Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.

    PubMed

    Frelich, Agnieszka; Frelich, Jakub; Jeż, Wacław; Irzyniec, Tomasz

    2017-01-01

    A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it. Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014. Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups. With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47-52).

  7. Telomeric fusion and chromosome instability in multiple tissues of a patient with mosaic Ullrich-Turner syndrome

    SciTech Connect

    Sawyer, J.R.; North, P.E.; Hassed, S.J.

    1997-04-14

    We describe the cytogenetic evolution of multiple cell lines in the gonadal tissue of a 10-year-old girl with mosaic Ullrich-Turner syndrome (UTS) involving clonal telomeric associations (tas) of the Y chromosome. G-band analysis of all tissues showed at least 2 cell lines; 45,X and 46,X,tas(Y;21)(q12;p13). However, analysis of left gonadal tissue of this patient showed the evolution of 2 additional cell lines, one designated 45,X,tas(Y;21)(q12;p13),-22 and the other 46,X,tas(Y;21)(q12;p13),+tas(Y;14)(q12;p13),-22. Fluorescence in situ hybridization (FISH) analysis of interphase nuclei from uncultured gonadal tissue confirmed the findings of aneuploidy in the left gonadal tissue and extended the findings of aneuploidy to the tissue of the right gonad. The chromosome findings in the gonadal tissue of this patient suggest a preneoplastic karyotype relating to several distinct tumor associations. The clonal evolution of telomeric fusions indicates chromosome instability and suggests the extra copy of the Y chromosome may have resulted from a fusion-related malsegregation. In addition, the extra Y suggests low-level amplification of a putative gonadoblastoma gene, while the loss of chromosome 22 suggests the loss of heterozygosity for genes on chromosome 22. This case demonstrates the utility of the study of gonadal tissue in 45X46,XY UTS patients, and provides evidence that clonal telomeric fusions may, in rare cases, be associated with chromosomal malsegregation and with the subsequent evolution of unstable karyotypes. 27 refs., 3 figs.

  8. Aberrant parietal cortex developmental trajectories in girls with Turner syndrome and related visual-spatial cognitive development: a preliminary study.

    PubMed

    Green, Tamar; Chromik, Lindsay C; Mazaika, Paul K; Fierro, Kyle; Raman, Mira M; Lazzeroni, Laura C; Hong, David S; Reiss, Allan L

    2014-09-01

    Turner syndrome (TS) arises from partial or complete absence of the X-chromosome in females. Girls with TS show deficits in visual-spatial skills as well as reduced brain volume and surface area in the parietal cortex which supports these cognitive functions. Thus, measuring the developmental trajectory of the parietal cortex and the associated visual-spatial cognition in TS may provide novel insights into critical brain-behavior associations. In this longitudinal study, we acquired structural MRI data and assessed visual-spatial skills in 16 (age: 8.23 ± 2.5) girls with TS and 13 age-matched controls over two time-points. Gray and white matter volume, surface area and cortical thickness were calculated from surfaced based segmentation of bilateral parietal cortices, and the NEPSY Arrows subtest was used to assess visual-spatial ability. Volumetric and cognitive scalars were modeled to obtain estimates of age-related change. The results show aberrant growth of white matter volume (P = 0.011, corrected) and surface area (P = 0.036, corrected) of the left superior parietal regions during childhood in girls with TS. Other parietal sub-regions were significantly smaller in girls with TS at both time-points but did not show different growth trajectories relative to controls. Furthermore, we found that visual-spatial skills showed a widening deficit for girls with TS relative to controls (P = 0.003). Young girls with TS demonstrate an aberrant trajectory of parietal cortical and cognitive development during childhood. Elucidating aberrant neurodevelopmental trajectories in this population is critical for determining specific stages of brain maturation that are particularly dependent on TS-related genetic and hormonal factors.

  9. C677T and A1298C Polymorphisms of MTHFR Gene and Their Relation to Homocysteine Levels in Turner Syndrome

    PubMed Central

    Oliveira, Kelly C.; Verreschi, Ieda T.N.; Sugawara, Eduardo K.; Silva, Vanessa C.; Galera, Bianca B.; Galera, Marcial Francis; Bianco, Bianca

    2012-01-01

    Aims: To determine the frequency of C677T and A1298C polymorphisms of the MTHFR gene and correlate them with homocysteine serum levels in patients with Turner syndrome (TS) and controls. Methods: This case–control study included 78 women with TS and a control group of 372 healthy individuals without personal or family history of cardiovascular disease and cancer. C677T (rs1801133) and A1298C (rs1801131) polymorphisms were detected by polymerase chain reaction–restriction fragment-length polymorphism and the TaqMan system, respectively. Homocysteine serum levels were determined by high-performance liquid chromatography. The results were analyzed statistically, and p<0.05 was considered to represent a significant difference. Results: The homocysteine levels change was 13.9+3.3 nM in patients with TS and 8.8+3.2 nM in the control group. No significant difference between groups was found (p=0.348). Single-marker analysis revealed no association between MTHFR C677T polymorphism and TS when genotype (p=0.063) or allelic (p=0.277) distribution was considered. Regarding MTHFR A1298C polymorphism, a statistical difference was found between the TS group and the control group, for both genotype (p<0.0001) and allele (p<0.0001) distribution. Haplotype analysis of 2 MTHFR polymorphisms identified 2 haplotypes—CC and TC—associated with TS (p<0.001 and p=0.0165, respectively). However, homocysteine levels were not higher in patients with haplotype risk. Conclusion: The results suggest that the C677T and A1298C polymorphisms of the MTHFR gene are not related to homocysteine levels in Brazilian patients with TS, despite the differential distribution of the mutated allele C (A1298C) in these patients. Further studies are needed to investigate the possible genetic interaction with homocysteine levels in TS. PMID:22283972

  10. Impact of Growth Hormone on Adult Bone Quality in Turner Syndrome: A HR-pQCT Study.

    PubMed

    Nour, Munier A; Burt, Lauren A; Perry, Rebecca J; Stephure, David K; Hanley, David A; Boyd, Steven K

    2016-01-01

    Women with Turner syndrome (TS) are known to be at risk of osteoporosis. While childhood growth hormone (GH) treatment is common in TS, the impact of this therapy on bone health has been poorly understood. The objective of this study was to determine the influence of childhood GH treatment on adult bone quality in women with TS. 28 women aged 17-45 with confirmed TS (12 GH-treated) agreed to participate in this cross-sectional study. Dual X-ray absorptiometry (DXA) of lumbar spine, hip, and radius and high-resolution peripheral quantitative computed tomography (HR-pQCT) scans of the radius and tibia were used to determine standard morphological and micro-architectural parameters of bone health. Finite element (FE) analysis and polar moment of inertia (pMOI) were used to estimate bone strength. GH-treated subjects were +7.4 cm taller (95% CI 2.5-12.3 cm, p = 0.005). DXA-determined areal BMD of hip, spine, and radius was similar between treatment groups. Both tibial and radial total bone areas were greater among GH-treated subjects (+20.4 and +21.2% respectively, p < 0.05), while other micro-architectural results were not different between groups. pMOI was significantly greater among GH-treated subjects (radius +35.0%, tibia +34.0%, p < 0.05). Childhood GH treatment compared to no treatment in TS was associated with an increased height, larger bones, and greater pMOI, while no significant difference in DXA-derived BMD, HR-pQCT micro-architectural parameters, or FE-estimated bone strength was detected. The higher pMOI and greater bone size may confer benefit for fracture reduction in these GH-treated patients.

  11. Psychogenetics of Turner syndrome: an investigation of 28 subjects and respective controls using the Bender test and Piagetian scales.

    PubMed

    Ricardi, F C F; Zaia, L L; Pellegrino-Rosa, I; Rosa, J T; Mantovani de Assis, O Z; Saldanha, P H

    2010-08-31

    Piagetian scales and the Bender visual motor gestalt test (BT) were applied to 28 subjects with universal 45,X Turner syndrome (TS), and their respective controls, in order to investigate their cognitive performance. Dermatoglyphics were also analyzed to obtain clues concerning embryological changes that may have appeared during development of the nervous system and could be associated with cognitive performance of TS patients. Dermatoglyphic pattern distribution was similar to that reported in previous studies of TS individuals: ulnar loops in the digital patterns and finger ridge, a-b, and A'-d counts were more frequent, while arch and whorl patterns were less frequent compared to controls. However, we did not find higher frequencies of hypothenar pattern, maximum atd angle, and ulnarity index in our TS subjects, unlike other investigations. Furthermore, we found significant differences between TS and control T line index values. The BT scores were also lower in probands, as has been previously reported, revealing a neurocognitive deficit of visual motor perception in TS individuals, which could be due to an absence of, or deficiency in, cerebral hemispheric lateralization. However, TS subjects seemed to improve their performance on BT with age. Cognitive performance of the TS subjects was not significantly different from that of controls, confirming a previous study in which TS performance was found to be similar to that of the normal Brazilian population. There were significant correlations between BT scores and Piagetian scale levels with dermatoglyphic parameters. This association could be explained by changes in the common ectodermal origin of the epidermis and the central nervous system. TS subjects seem to succeed in compensating their spatial impairments in adapting their cognitive and social contacts. We concluded that genetic counseling should consider cognitive and psychosocial difficulties presented by TS subjects, providing appropriate treatment and

  12. A 6-year Follow-up survey of health status in middle-aged women with Turner syndrome.

    PubMed

    Fjermestad, Krister W; Naess, Eva E; Bahr, David; Gravholt, Claus H

    2016-09-01

    Studies suggest younger women with Turner syndrome (TS) have good quality of life. Less is known about everyday functioning in adults with TS. In a 6-year follow-up study, multiple areas of functioning were compared between TS women and controls. Women with TS and controls were mailed a self-report survey 6 years after a baseline study. Fifty-seven women with TS (M age 40·6 ± 11·1 years) and 101 controls (M age 38·8 ± 10·6 years, ns) responded. Measures of background information, experienced life strain and presence/impact of health conditions were developed for this study. The QPS Nordic measured perceived workload challenges. The LiSat-9 measured life satisfaction. The Rosenberg Self-Esteem Scale measured self-esteem. More TS women lived alone, fewer had biological children, and more had adoptive children. TS women reported fewer sex partners and less sexual confidence. Controls had higher education. There was no difference in employment status. More TS women received disability pensions. TS women reported their work as more physically challenging, less positively challenging and requiring less knowledge skills. TS women experienced more life strain in school, adolescence and late working life. Controls reported higher overall life satisfaction, with no difference between samples on specific domains. TS women reported lower self-esteem. For TS women only, physical health at baseline predicted length of education and mental health at baseline predicted self-esteem. Women with TS face more challenges than controls on several domains of functioning. Early physical and mental health may influence later educational achievement and self-esteem for women with TS. © 2016 John Wiley & Sons Ltd.

  13. X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome.

    PubMed

    Fiot, Elodie; Zenaty, Delphine; Boizeau, Priscilla; Haigneré, Jeremy; Dos Santos, Sophie; Léger, Juliane

    2016-03-01

    Short stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to investigate the effect of X-chromosome gene dosage on anthropometric parameters at birth, spontaneous height, and adult height (AH) after growth hormone (GH) treatment. We conducted a national observational multicenter study. Birth parameter SDS for gestational age, height, and AH before and after GH treatment respectively, and height deficit with respect to target height (SDS) were classified by karyotype subgroup in a cohort of 1501 patients with TS: 45,X (36%), isoXq (19%), 45,X/46,XX (15%), XrX (7%), presence of Y (6%), or other karyotypes (17%). Birth weight, length (P<0.0001), and head circumference (P<0.001), height and height deficit with respect to target height (SDS) before GH treatment, at a median age of 8.8 (5.3-11.8) years and after adjustment for age and correction for multiple testing (P<0.0001), and AH deficit with respect to target height at a median age of 19.3 (18.0-21.8) years and with additional adjustment for dose and duration of GH treatment (P=0.006), were significantly associated with karyotype subgroup. Growth retardation tended to be more severe in patients with XrX, isoXq, and, to a lesser extent, 45,X karyotypes than in patients with 45,X/46,XX karyotypes or a Y chromosome. These data suggest that haploinsufficiency for an unknown Xp gene increases the risk of fetal and postnatal growth deficit and short AH with respect to target height after GH therapy. © 2016 European Society of Endocrinology.

  14. Efficacy of estrogen replacement therapy (ERT) on uterine growth and acquisition of bone mass in patients with Turner syndrome.

    PubMed

    Nakamura, Tomomi; Tsuburai, Taku; Tokinaga, Aya; Nakajima, Izumi; Kitayama, Reiko; Imai, Yuichi; Nagata, Tomoko; Yoshida, Hiroshi; Hirahara, Fumiki; Sakakibara, Hideya

    2015-01-01

    Estrogen replacement therapy (ERT) is necessary for uterine development and bone mass acquisition in women with Turner syndrome (TS) suffering from ovarian insufficiency. However, adequate ERT regimens have not yet been established. The aim of this study was to evaluate the efficacy of ERT for both uterine development and bone mass acquisition. One hundred TS patients from Yokohama City University Hospital (88 with primary amenorrhea (PA) and 12 patients with spontaneous menstrual cycles (MC)) were enrolled after obtaining consent. Clinical profiles, uterine length (UL) measured by ultrasonic examination, and bone mineral density (BMD) of the lumbar vertebrae (L2-4) assessed by DEXA were evaluated. At the time of the first visit, the ULs of patients in the PA group were significantly shorter than those in the MC group. After receiving ERT, there were no significant differences in UL between patients with PA and MC. Forty-seven patients for whom the ERT initiation age was known were investigated to clarify the influence on BMD. The results showed that the BMD in the late initiation (18 years or older) group at the latest visit (0.770 ± 0.107 g/cm2: n = 16) was significantly lower than that in the early initiation (under 18 years) group (0.858 ± 0.119 g/cm2: n = 21) or the MC group (0.941 ± 0.118 g/cm2: n = 10). No significant differences were seen between the early initiation and MC group. ERT was effective in increasing UL and BMD. However, early initiation of ERT is necessary to increase BMD.

  15. Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

    PubMed

    Sari, Erkan; Bereket, Abdullah; Yeşilkaya, Ediz; Baş, Firdevs; Bundak, Rüveyde; Aydın, Banu Küçükemre; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Unuvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Fidancı, Kürşat; Gül, Davut; Polat, Adem; Acıkel, Cengizhan; Cinaz, Peyami; Darendeliler, Feyza

    2016-04-01

    To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.

  16. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation.

    PubMed

    Kagan, K O; Valencia, C; Livanos, P; Wright, D; Nicolaides, K H

    2009-01-01

    To investigate the performance of first-trimester screening for aneuploidies by including assessment of tricuspid blood flow in the combined test of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein A (PAPP-A). Screening by the combined test was performed in singleton pregnancies, including 19 614 with chromosomally normal fetuses or the delivery of a phenotypically normal baby (euploid group), 122 with trisomy 21, 36 with trisomy 18, 20 with trisomy 13 and eight with Turner syndrome. In all cases tricuspid flow was assessed to determine if there was tricuspid regurgitation. We examined the performance of two screening strategies: firstly, assessment of tricuspid flow in all patients and secondly, first-stage screening using the combined test in all patients followed by second-stage assessment of tricuspid flow only in those with an intermediate risk of 1 in 51 to 1 in 1000 after the first stage. Tricuspid regurgitation was observed in 0.9% of the euploid fetuses and 55.7%, 33.3% and 30% of the fetuses with trisomies 21, 18 and 13, respectively, and in 37.5% of those with Turner syndrome. In a screening policy based on maternal age, fetal NT, FHR, serum free beta-hCG and PAPP-A, for a fixed false positive rate of 3% the standardized detection rates were 91% for trisomy 21 and 100% for trisomy 18, trisomy 13 and Turner syndrome. Assessment of tricuspid flow in all pregnancies would increase the detection rate of trisomy 21 to 96%, and the detection rates of trisomy 18, trisomy 13 and Turner syndrome would be 92%, 100% and 100%, respectively. The same detection rates were achieved with the two-stage strategy-in which it was necessary to assess tricuspid flow in only 15% of the total population-at a false positive rate of 2.4%. Assessment of tricuspid flow improves the performance of first-trimester screening for trisomy 21. Copyright (c

  17. Novel karyotype in the Ullrich-Turner syndrome - 45,X/46,X,r(X)/46,X,dic(X) - investigated with fluorescence in situ hybridization

    SciTech Connect

    Robson, L.; Jackson, J.; Cowell, C.; Sillence, D.; Smith, A.

    1994-04-15

    A 10-year-old girl with Ullrich-Turner syndrome was found to have the novel karyotype 45,X/46,X,r(X)(p11q11)/46,X,dic(X)(p11). Fluorescence in situ hybridization (FISH) with the {alpha} satellite X centromere probe established the origin of the small ring chromosome. Scanning a large number of cells by interphase FISH showed that the dicentric (X) was the least prevalent cell line. The common breakpoint of Xp11 suggests a sequence of errors as the mechanism whereby these 3 distinct cell lines have arisen. 11 refs., 4 figs., 1 tab.

  18. Esophageal achalasia compressing left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome.

    PubMed

    Park, Man Je; Song, Bong Gun; Lee, Hyoun Soo; Kim, Ki Hoon; Ok, Hea Sung; Kim, Byeong Ki; Park, Yong Hwan; Kang, Gu Hyun; Chun, Woo Jung; Oh, Ju Hyeon

    2012-01-01

    Extrinsic compression of the left atrium by the esophagus, the stomach, or both is an uncommon but important cause of hemodynamic compromise. Achalasia is a motility disorder characterized by impaired relaxation of the lower esophageal sphincter and dilatation of the distal two thirds of the esophagus. Echocardiographic imaging after oral ingestion of liquid containing carbon dioxide allowed for differentiation between a compressive vascular structure and the esophagus. We report a rare case of esophageal achalasia compressing the left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome.

  19. Overlapping demyelinating syndromes and anti-NMDA receptor encephalitis

    PubMed Central

    Titulaer, Maarten J.; Höftberger, Romana; Iizuka, Takahiro; Leypoldt, Frank; McCracken, Lindsey; Cellucci, Tania; Benson, Leslie A.; Shu, Huidy; Irioka, Takashi; Hirano, Makito; Singh, Gagandeep; Calvo, Alvaro Cobo; Kaida, Kenichi; Morales, Pamela S.; Wirtz, Paul W.; Yamamoto, Tomotaka; Reindl, Markus; Rosenfeld, Myrna R.; Graus, Francesc; Saiz, Albert; Dalmau, Josep

    2014-01-01

    Objective To report the clinical, radiological, and immunological association of demyelinating disorders with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. Methods Clinical and radiological analysis of a cohort of 691 patients with anti-NMDAR encephalitis. Determination of antibodies to NMDAR, aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) was performed using brain immunohistochemistry and cell-based assays. Results Twenty-three of 691 patients with anti-NMDAR encephalitis had prominent MRI and/or clinical features of demyelination. Group 1 included 12 patients in whom anti-NMDAR encephalitis was preceded or followed by independent episodes of NMO-spectrum disorder (5 cases, 4 anti-AQP4-positive), or brainstem or multifocal demyelinating syndromes (7 cases, all anti-MOG-positive). Group 2 included 11 patients in whom anti-NMDAR encephalitis occurred simultaneously with MRI and symptoms compatible with demyelination (5 AQ4-positive, 2 MOG-positive). Group 3 (136 controls) included 50 randomly selected patients with typical anti-NMDAR encephalitis, 56 with NMO, and 30 with multiple sclerosis: NMDAR-antibodies were detected only in the 50 anti-NMDAR patients, MOG-antibodies in 3/50 anti-NMDAR and 1/56 NMO patients, and AQP4-antibodies in 48/56 NMO and 1/50 anti-NMDAR patients (p<0.0001 for all comparisons with Groups 1 and 2). Most patients improved with immunotherapy, but compared with anti-NMDAR encephalitis the demyelinating episodes required more intensive therapy and resulted in more residual deficits. Only 1/23 NMDAR patients with signs of demyelination had ovarian teratoma compared with 18/50 anti-NMDAR controls (p=0.011) Interpretation Patients with anti-NMDAR encephalitis may develop concurrent or separate episodes of demyelinating disorders, and conversely patients with NMO or demyelinating disorders with atypical symptoms (e.g., dyskinesias, psychosis) may have anti-NMDAR encephalitis. PMID:24700511

  20. The clinical and genetic features of COPD-asthma overlap syndrome.

    PubMed

    Hardin, Megan; Cho, Michael; McDonald, Merry-Lynn; Beaty, Terri; Ramsdell, Joe; Bhatt, Surya; van Beek, Edwin J R; Make, Barry J; Crapo, James D; Silverman, Edwin K; Hersh, Craig P

    2014-08-01

    Individuals with chronic obstructive pulmonary disease (COPD) and asthma are an important but poorly characterised group. The genetic determinants of COPD and asthma overlap have not been studied. The aim of this study was to identify clinical features and genetic risk factors for COPD and asthma overlap. Subjects were current or former smoking non-Hispanic whites or African-Americans with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40 years. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the non-Hispanic whites and African-American populations, and combined these results in a meta-analysis. More females and African-Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema and greater airway wall thickness compared to subjects with COPD alone. The non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap. Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD and asthma overlap is an important syndrome and may require distinct clinical management.

  1. Oocyte cryopreservation for fertility preservation in postpubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner syndrome or cancer treatments.

    PubMed

    Oktay, K; Bedoschi, G

    2014-12-01

    To preliminarily study the feasibility of oocyte cryopreservation in postpubertal girls aged between 13 and 15 years who were at risk for premature ovarian failure due to the accelerated follicle loss associated with Turner syndrome or cancer treatments. Retrospective cohort and review of literature. Academic fertility preservation unit. Three girls diagnosed with Turner syndrome, 1 girl diagnosed with germ-cell tumor. and 1 girl diagnosed with lymphoblastic leukemia. Assessment of ovarian reserve, ovarian stimulation, oocyte retrieval, in vitro maturation, and mature oocyte cryopreservation. Response to ovarian stimulation, number of mature oocytes cryopreserved and complications, if any. Mean anti-müllerian hormone, baseline follical stimulating hormone, estradiol, and antral follicle counts were 1.30 ± 0.39, 6.08 ± 2.63, 41.39 ± 24.68, 8.0 ± 3.2; respectively. In Turner girls the ovarian reserve assessment indicated already diminished ovarian reserve. Ovarian stimulation and oocyte cryopreservation was successfully performed in all female children referred for fertility preservation. A range of 4-11 mature oocytes (mean 8.1 ± 3.4) was cryopreserved without any complications. All girls tolerated the procedure well. Oocyte cryopreservation is a feasible technique in selected female children at risk for premature ovarian failure. Further studies would be beneficial to test the success of oocyte cryopreservation in young girls. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  2. How often and when Fisher syndrome is overlapped by Guillain-Barré syndrome or Bickerstaff brainstem encephalitis?

    PubMed

    Sekiguchi, Y; Mori, M; Misawa, S; Sawai, S; Yuki, N; Beppu, M; Kuwabara, S

    2016-06-01

    Fisher syndrome (FS) may overlap with Guillain-Barré syndrome (GBS), in particular the pharyngeal-cervical-brachial variant form (PCB-GBS), or Bickerstaff brainstem encephalitis (BBE). Our aim was to elucidate the frequency of this overlap and the patterns of clinical progression in patients with FS. Sixty consecutive patients with FS were studied. FS/PCB-GBS was diagnosed when the patients developed pharyngeal, cervical and/or brachial weakness. Patients with flaccid tetraparesis were diagnosed as having FS/conventional GBS. FS/BBE was defined as the development of consciousness disturbances. All 60 patients initially developed the FS clinical triad alone (pure FS). Of these, 30 (50%) patients had pure FS throughout their course, whereas the remaining 50% of patients showed an overlap: PCB-GBS in 14 (23%) patients, conventional GBS in nine (15%) patients and BBE in seven (12%) patients. The median (range) durations from FS onset to progression to FS/PCB-GBS, FS/GBS or FS/BBE were 5 (1-7), 3 (1-4) and 3 (1-5) days, respectively. Patients with overlap syndromes more frequently received immune-modulating treatment, and the outcomes were generally favourable. The frequencies of positivity for anti-GQ1b, GT1a, GD1a, GD1b, GalNAc-GD1a and GM1 antibodies were not significantly different amongst the four groups. Of the patients with pure FS, 50% later developed an overlap with PCB-GBS, conventional GBS or BBE. The overlap occurred within 7 days of FS onset; thus, physicians should pay attention to the possible development of this overlap during the first week after FS onset. © 2016 EAN.

  3. Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)

    SciTech Connect

    1996-07-12

    The gene for this syndrome of X-linked mental retardation with gynecomastia, obesity, speech difficulties, tapering fingers and small feet was mapped between Xp21.1 and Xq22. Linkage to DXS255 at Xp11 was firmly established, with no recombination. Subsequent characterization of numerous microsatellite markers and development of the background genetic map in this region of the X chromosome has enabled significant reduction to the localization of the gene for WTS in the one family so far reported. The new linkage data were obtained as described previously and are presented in Table I. The closest flanking markers are DXS426 at Xp11.3 and DXS990 at Xq21.3. The regional localization is significantly reduced from the previous interval of 66 cM to an interval of 25 cM. The maximum two-point lod score is now 6.07 at AR. 6 refs., 1 tab.

  4. [Symptom overlaps between functional heartburn, functional dyspepsia, and irritable bowel syndrome].

    PubMed

    2014-05-01

    To determine symptom overlaps between functional heartburn (FH), functional dyspepsia (FD), and irritable bowel syndrome (IBS). One hundred and ten patients with frequent heartburn but no mucosa breakage under endoscopy were enrolled consecutively. They were required to fill out a questionnaire. The overlapped symptoms of FD and IBS symptoms were screened using Rome ill criteria. The participants were also examined using Hamilton anxiety scale/Hamilton depression scale. All of the participants were followed with 24 h esophageal multichannel intra-luminal impedance monitoring with pH sensor (MII-pH) monitoring and proton pump inhibitor (PPI) trials. The participants were divided into non-erosive reflux disease (NERD) and FH groups. The prevalence of symptom overlaps FD and IBS, between NERD and FH groups was analyzed. Women were more likely to present with FH than with NERD (P < 0.05). The participants with FH had higher prevalence of anxiety and depression than those with NERD (92% vs. 75%, 88% vs. 65% respectively, P < 0.05). Fifty-two (47.3%) patients with heartburn symptom had FD symptoms; 31 (28.2%) had IBS symptoms, and 10 (9.09%) had both FD and IBS symptoms. Patients with FH were more likely to have symptom overlaps of FD and IBS than those with NERD (62% vs. 35%, 48% vs. 11.7%, respectively; P < 0.01). Epigastric pain syndrome (EPS), a subtype of FD, was slightly more likely to have overlapped NERD and FH symptoms than postprandial discomfort symdrome (PDS). But the difference was not significant (29. 1% vs. 18.2%, P > 0.05). IBS-diarrhea was also slightly more likely to have overlapped NERD and FH symptoms than IBS-constipation. Again, the difference was not significant (16.4% vs. 11.8%, P > 0.05). Female, higher prevalence of anxiety and depression, overlapped FD and IBS symptoms are more likely to appear in FH patients than in NERD patients.

  5. [Autoimmune hepatitis/primary sclerosing cholangitis overlap syndrome in adults: report of three cases].

    PubMed

    Santos, Oscar Mauricio; Muñoz Ortiz, Edison; Pérez, Camilo; Restrepo, Juan Carlos

    2012-04-01

    Overlap syndromes are cases of liver diseases that share clinical, serological, histological and radiological criteria of autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) or primary sclerosing cholangitis (PSC). No definitions have been fully established and therefore there is no solid evidence on the diagnosis and treatment. This article presents the cases of three adult patients with overlapping features of AIH and PSC. Orthotopic liver transplantation was considered the best therapeutic alternative due to advanced disease progression in one patient, while medical treatment was provided in the remaining two patients.

  6. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

    PubMed

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cavé, Hélène; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C M; Wilson, Louise C; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yoichi

    2007-04-15

    Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome. The purpose of this study was to perform comprehensive mutation analysis in 56 patients with CFC syndrome and to investigate genotype-phenotype correlation. We analyzed KRAS, BRAF, and MAP2K1/2 (MEK1/2) in 13 new CFC patients and identified five BRAF and one MAP2K1 mutations in nine patients. We detected one MAP2K1 mutation in three patients and four new MAP2K2 mutations in four patients out of 24 patients without KRAS or BRAF mutations in the previous study [Niihori et al., 2006]. No mutations were identified in MAPK3/1 (ERK1/2) in 21 patients without any mutations. In total, 35 of 56 (62.5%) patients with CFC syndrome had mutations (3 in KRAS, 24 in BRAF, and 8 in MAP2K1/2). No significant differences in clinical manifestations were found among 3 KRAS-positive patients, 16 BRAF-positive patients, and 6 MAP2K1/2-positive patients. Wrinkled palms and soles, hyperpigmentation and joint hyperextension, which have been commonly reported in Costello syndrome but not in CFC syndrome, were observed in 30-40% of the mutation-positive CFC patients, suggesting a significant clinical overlap between these two syndromes. Copyright 2007 Wiley-Liss, Inc.

  7. Herpes Viral Origin of the Parsonage-Turner Syndrome: Highlighting of Serological Immune Anti-Herpes Deficiency Cured by Anti-Herpes Therapy.

    PubMed

    Goaster, Jacqueline Le; Bourée, Patrice; Ifergan, Charles; Tangy, Frederic; Olivier, René; Haenni, Anne-Lise

    2015-01-01

    In 2012, a 50 year-old athletic male presented with weakness, pain and unilateral phrenic paralysis, followed by bilateral phrenic paralysis with deep dyspnea. In 2013, the Parsonage-Turner syndrome was diagnosed. When the patient was seen in September 2014 for the first time, he was facing phrenic neuromuscular failure, which led to the hypothesis of neurotropic herpes viruses. A control of the global serological anti-Herpes immunity to analyze his antibody (Ab) levels confirmed herpes immune genetic deficiency. An appropriate herpes chemotherapy treatment was proposed. Immediately, a spectacular recovery of the patient was observed, and after a few weeks, the respiratory function tests showed normal values. The hypothesis of the inductive role of viruses of the herpes family in the Parsonage-Turner syndrome was thus substantiated. The patient's immune deficiency covers the HSV2, HHV3, HHV4, HHV5 and HHV6 Ab levels. This led to the control of herpes in the family lineage: indeed, his daughter presented alterations of her serological herpes Ab levels.

  8. Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.

    PubMed

    Rajpathak, Shriram N; Vellarikkal, Shamsudheen Karuthedath; Patowary, Ashok; Scaria, Vinod; Sivasubbu, Sridhar; Deobagkar, Deepti D

    2014-01-01

    Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s) in the establishment of Turner syndrome phenotypes.

  9. Human 45,X Fibroblast Transcriptome Reveals Distinct Differentially Expressed Genes Including Long Noncoding RNAs Potentially Associated with the Pathophysiology of Turner Syndrome

    PubMed Central

    Patowary, Ashok; Scaria, Vinod; Sivasubbu, Sridhar; Deobagkar, Deepti D.

    2014-01-01

    Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s) in the establishment of Turner syndrome phenotypes. PMID:24932682

  10. del(X)(p22.1)/r(X)(p22.1q28) Dynamic mosaicism in a Turner syndrome patient.

    PubMed

    Gutiérrez-Angulo, Melva; Lazalde, Brissia; Vasquez, Ana I; Leal, Caridad; Corral, Elisa; Rivera, Horacio

    2002-01-01

    We report on a 16-year-old patient with Turner syndrome who presented a mos 46,X,del(X)(p22.1)[35]/45,X [19]/46,X,r(X)(p22.1q28)[6]GTG-band karyotype. The R-banding showed that the abnormal X-chromosome was inactive in all 61 cells analyzed. Fluorescence in situ hybridization with a Xp/Yp subtelomeric probe revealed that both abnormal chromosomes lacked the complementary sequences, a fact consistent with a terminal deletion. Besides, the molecular analysis of the human androgen receptor gene showed that the rearranged chromosome was paternal in origin. Since the deleted and the ring chromosomes had the same size and banding pattern, and because the former was the predominant cell line, it was inferred that the Xp- formed a ring in some cells apparently without further loss of genetic material. However, the reverse sequence and even a simultaneous origin due to a complex intrachromosomal exchange are also conceivable. The mild Turner syndrome phenotype is explained by the mosaicism and by the size of the deleted segment.

  11. Pregnancy after oocyte donation in 45, X Turner syndrome women, complicated by gestational diabetes and polyhydramnios. Case report and mini-review of literature.

    PubMed

    Czyzyk, Adam; Podfigurna-Stopa, Agnieszka; Katulski, Krzysztof; Breborowicz, Grzegorz H; Genazzani, Andrea R; Meczekalski, Blazej

    2016-08-01

    Patients suffering from Turner syndrome (TS) demonstrate characteristic clinical features, with a short stature and gonadal dysgenesis causing infertility in most patients. Spontaneous pregnancies in women with TS are quite rare and pregnancy outcomes involving an increased risk of miscarriage and stillbirths are observed. In this case report, we present a 28 years old pregnant woman with the diagnosis of TS. Due to hypergonadotrophic hypogonadism, she was proposed an in vitro fertilization (IVF) program with an oocyte donor from unrelated anonymous women. After the second transfer, implantation occurred. In the 24th week of gestation, gestational diabetes class 1 was diagnosed. In the 31st week of gestation, polyhydramnios was diagnosed, although other parameters were reassuring. Considering the polyhydramnios, along with the diagnosis of Turner syndrome in the mother, we decided to perform an elective cesarean section. Subsequently, a healthy term male was born. For most women with the diagnosis of TS, the only way to become pregnant is through oocyte donation. The aim of this work was to characterize the course of pregnancy in TS patient and review literature addressing this issue.

  12. Uterus and ovaries in girls and young women with Turner syndrome evaluated by ultrasound and magnetic resonance imaging.

    PubMed

    Cleemann, Line; Holm, Kirsten; Fallentin, Eva; Skouby, Svend Oluf; Smedegaard, Heidi; Møller, Nini; Borch-Christensen, Hanne; Jeppesen, Eva Mosfeldt; Wieslander, Steen Bo; Andersson, Anna-Maria; Cohen, Arieh; Højbjerg Gravholt, Claus

    2011-06-01

    To determine uterine and ovarian size in Turner syndrome (TS) and to compare uterine and ovarian size evaluated by transabdominal ultrasound (US) and magnetic resonance imaging (MRI) in girls with TS and two groups of controls. A cross-sectional study. Forty-one girls with TS (17·0 ± 3·3 years, range 11·2-24·9 years), 50 healthy age-matched controls (16·9 ± 3·2 years, range 12·5-25·0 years) and 107 Tanner-stage-matched controls (15·0 ± 3·2 years, range 10·1-24·2). Uterine and ovarian volume by US and MRI. Ovaries were detected in 37% in TS by US and in 55% in TS by MRI (P = 0·1). Total ovarian volume was lower in TS compared to both groups of controls (TS vs C-US: median 1·1 ml (range 0·1-29·3) vs 11·52 ml (1·9-77·9), P = 0·001, TS vs C-MRI: 1·0 ml (0·1-34·2) vs 13·2 ml (2·4-30·1), P < 0·0005). Mean difference in total ovarian volume measured by MRI and US in patients with TS was 2·3 ± 3·8 ml (P = 0·01). Mean uterine volume by MRI was lower in TS compared to controls (29·5 ± 25·1 vs 54·3 ± 23·3 ml, P < 0·0005). Uterine volume by US was lower in TS at Tanner stage B5 compared to controls (TS vs C: 33·6 ± 18·2 vs 50·2 ± 18·0 ml, P = 0·007). A larger ovarian volume was detected by MRI in TS compared to US. This finding is important with the advancements of performing ovarian biopsies for cryopreservation and later reimplantation. Mean uterine volumes by MRI and US in fully matured TS were lower compared to controls despite appropriate hormonal replacement therapy in TS. © 2011 Blackwell Publishing Ltd.

  13. In young patients with Turner or Down syndrome, Graves' disease presentation is often preceded by Hashimoto's thyroiditis.

    PubMed

    Aversa, Tommaso; Lombardo, Fortunato; Corrias, Andrea; Salerno, Mariacarolina; De Luca, Filippo; Wasniewska, Malgorzata

    2014-04-01

    It is known that, in the general population, there exists a continuum between Hashimoto's thyroiditis (HT) and Graves' disease (GD) within the spectrum of autoimmune thyroid diseases, although the mechanisms involved in the metamorphosis from HT to GD or vice versa have not been elucidated as of yet. The aim of this study was to ascertain whether the association with Down or Turner syndromes (DS and TS) may affect the switching process from HT to GD. Thirty-five young GD patients with either DS or TS (group A) and 109 age-matched GD patients with neither DS nor TS were retrospectively investigated in order to either confirm or exclude antecedents of HT. The investigations were based on either clinical records or questionnaires addressed to family pediatricians. Retrospective investigations also aimed to ascertain how many patients in each group exhibited a biochemical picture of either subclinical or overt hypothyroidism at the time of HT diagnosis, and how many had received levothyroxine (L-T4) therapy prior to the onset of GD. In both groups, all the patients with documented antecedents of HT underwent an assessment of their iodine status after GD diagnosis. Antecedents of HT were significantly more common in group A than in group B (25.7% vs. 3.7%, p=0.0004), with a time interval between HT and GD that was significantly higher in group A (p=0.003). Both thyroid function and autoimmunity tests at HT presentation and the prevalence of patients who underwent L-T4 therapy prior to GD diagnosis were not significantly different in the two groups, nor was the iodine status after GD diagnosis. In young patients with TS or DS, GD presentation is often (25.7% of cases) preceded by HT. This evolution trend does not seem to be conditioned by either thyroid tests at HT diagnosis, or L-T4 treatment, or iodine status alterations. Patients with these chromosomopathies and coexisting HT may be at high risk of progressing to GD. The pathophysiological bases of these findings need

  14. Chronic pain and fatigue syndromes: overlapping clinical and neuroendocrine features and potential pathogenic mechanisms.

    PubMed

    Clauw, D J; Chrousos, G P

    1997-01-01

    Patients with unexplained chronic pain and/or fatigue have been described for centuries in the medical literature, although the terms used to describe these symptom complexes have changed frequently. The currently preferred terms for these syndromes are fibromyalgia and chronic fatigue syndrome, names which describe the prominent clinical features of the illness without any attempt to identify the cause. This review delineates the definitions of these syndromes, and the overlapping clinical features. A hypothesis is presented to demonstrate how genetic and environmental factors may interact to cause the development of these syndromes, which we postulate are caused by central nervous system dysfunction. Various components of the central nervous system appear to be involved, including the hypothalamic pituitary axes, pain-processing pathways, and autonomic nervous system. These central nervous system changes lead to corresponding changes in immune function, which we postulate are epiphenomena rather than the cause of the illnesses.

  15. Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.

    PubMed

    Inage, Eisuke; Suzuki, Mitsuyoshi; Minowa, Kei; Akimoto, Nahoko; Hisata, Ken; Shoji, Hiromichi; Okumura, Akihisa; Shimojima, Keiko; Shimizu, Toshiaki; Yamamoto, Toshiyuki

    2010-01-01

    Trisomy of 12p is a rare chromosomal abnormality, which sometimes coexists with other chromosomal anomalies. We report on a patient with a supernumerary chromosome involving chromosomes 12 and 14, which was confirmed by array-comparative genomic hybridization (aCGH). He had developmental delay and dysmorphic features overlapped with those of Pallister-Killian syndrome, which is derived from an isodicentric chromosome 12. The microblepharon identified in our patient is a characteristic feature of 12p trisomy. Further patients are needed to establish the phenotypic difference between trisomy 12p and Pallister-Killian syndrome.

  16. Cutaneous amyloidosis associated with autoimmune hepatitis-primary biliary cirrhosis overlap syndrome.

    PubMed

    González-Moreno, Emmanuel I; Cámara-Lemarroy, Carlos R; Borjas-Almaguer, David O; Martínez-Cabriales, Sylvia A; Paz-Delgadillo, Jonathan; Gutiérrez-Udave, Rodrigo; Ayala-Cortés, Ana S; Ocampo-Candiani, Jorge; Cortéz-Hernández, Carlos A; Maldonado-Garza, Héctor J

    2015-01-01

    Cutaneous amyloidosis is a rare disease characterized by the deposition of amyloid in the dermis. It can be primary or secondary, depending on associated diseases. It has been linked to various autoimmune diseases, including primary biliary cirrhosis. We present the case of a patient with an autoimmune hepatitis-primary biliary cirrhosis overlap syndrome with concomitant cutaneous amyloidosis, a very unusual association, and discuss similar cases and possible pathophysiological implications.

  17. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

    PubMed

    Parenti, Ilaria; Teresa-Rodrigo, María E; Pozojevic, Jelena; Ruiz Gil, Sara; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pié, Juan; Deardorff, Matthew A; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J

    2017-03-01

    The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex. Herein, we report on the clinical and molecular characterization of seven patients with features overlapping with CdLS who were found to carry mutations in chromatin regulators previously associated to other neurodevelopmental disorders that are frequently considered in the differential diagnosis of CdLS. The identified mutations affect the methyltransferase-encoding genes KMT2A and SETD5 and different subunits of the SWI/SNF chromatin-remodeling complex. Complementary to this, a patient with Coffin-Siris syndrome was found to carry a missense substitution in NIPBL. Our findings indicate that mutations in a variety of chromatin-associated factors result in overlapping clinical phenotypes, underscoring the genetic heterogeneity that should be considered when assessing the clinical and molecular diagnosis of neurodevelopmental syndromes. It is clear that emerging molecular mechanisms of chromatin dysregulation are central to understanding the pathogenesis of these clinically overlapping genetic disorders.

  18. Overlap of symptoms of gastroesophageal reflux disease, dyspepsia and irritable bowel syndrome in the general population.

    PubMed

    Rasmussen, Sanne; Jensen, Trine Holm; Henriksen, Susanne Lund; Haastrup, Peter Fentz; Larsen, Pia Veldt; Søndergaard, Jens; Jarbøl, Dorte Ejg

    2015-02-01

    Gastroesophageal reflux disease (GERD), functional dyspepsia (FD) and irritable bowel syndrome (IBS) are common functional gastrointestinal conditions with significant impact on the daily lives of individuals. The objective was to investigate the prevalence and overlap of the three conditions in a Western general population. A nationwide study of 100,000 individuals 20 years and above, randomly selected in the general population. A web-based questionnaire survey formed the basis of this study. Questions regarding FD and IBS were extracted from the ROME III adult questionnaire. Questions regarding GERD were developed based on the Montreal definition. Prevalence estimates for GERD, FD IBS were calculated in total and for each sex separately and for four age groups. A Venn diagram was constructed, illustrating the overlap between the three conditions. The overall response rate was 52.2%. The prevalence of GERD, FD and IBS was 11.2%, 7.7% and 10.5%, respectively, and overlap between two or three of these conditions was seen among 6.5% of the respondents. Among individuals meeting the criteria of one or more of the conditions GERD, FD and IBS, 30.7% had overlap between two or all three conditions. GERD, FD and IBS are common conditions in the general population and the overlap between these conditions is also quite common. When diagnosing patients with GERD, FD and IBS, physicians should keep in mind that these patients could be suffering from more than one of these conditions.

  19. Is there an overlap between Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy/dysplasia?

    PubMed Central

    Riera, Andrés Ricardo Pérez; Antzelevitch, Charles; Schapacknik, Edgardo; Dubner, Sergio; Ferreira, Celso

    2006-01-01

    The Brugada syndrome is a congenital syndrome displaying an autosomal dominant mode of transmission in patients with a structurally normal heart. The disease has been linked to mutations in SCN5A, a gene located on the short arm of chromosome 3 (p21-24) that encodes for the α subunit of the sodium channel. The syndrome is characterized by a dynamic ST-segment elevation (accentuated J wave) in leads V1 to V3 of the ECG followed by negative T wave. Right bundle-branch block of varying degrees is observed in some patients. The syndrome is associated with syncope and a relatively high incidence of sudden cardiac death secondary to the development of polymorphic ventricular tachycardia that may degenerate into ventricular fibrillation. An acquired form of the Brugada syndrome is also recognized, caused by a wide variety of drugs and conditions that alter the balance of currents active during the early phases of the action potential. Among patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia, there is a subpopulation with a clinical and electrocardiographic pattern similar to that of the Brugada syndrome. These cases of arrhythmogenic right ventricular cardiomyopathy/dysplasia are thought to represent an early or concealed form of the disease. This review examines the overlap between these 2 syndromes. PMID:16003713

  20. Autoimmune hepatitis-primary biliary cirrhosis overlap syndrome concomitant with immune hemolytic anemia and immune thrombocytopenic purpura (Evans syndrome).

    PubMed

    Korkmaz, Huseyin; Bugdaci, Mehmet Sait; Temel, Tuncer; Dagli, Mehmet; Karabagli, Pinar

    2013-04-01

    Autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) associated with Evans syndrome; combination of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenic purpura (ITP) has rarely been reported. We report the case of a 53-year-old patient who presented with weakness, myalgia, arthralgia, shortness of breath and purpura. Initial laboratory investigations revealed liver dysfunction, anemia and thrombocytopenia. Anti-nuclear (ANA) and antimitochondrial M2 (AMA M2) antibodies were positive. Diagnose of PBC-AIH overlap was made by clinical, serological and histological investigations. AIHA and ITP was identified with clinical-laboratory findings and bone marrow puncture. She was treated with IVIG followed by prednisolone and ursodeoxycholic acid. Hemoglobin-thrombocytes increased rapidly and transaminases improved at day 8. We have reported the first case in the literature with AIH-PBC overlap syndrome concurrent by ITP and AIHA which suggest the presence of shared genetic susceptibility factors in multiple autoimmune conditions including AIH, PBC, ITP and AIHA.

  1. A regression method including chronological and bone age for predicting final height in Turner's syndrome, with a comparison of existing methods.

    PubMed

    van Teunenbroek, A; Stijnen, T; Otten, B; de Muinck Keizer-Schrama, S; Naeraa, R W; Rongen-Westerlaken, C; Drop, S

    1996-04-01

    A total of 235 measurement points of 57 Dutch women with Turner's syndrome (TS), including women with spontaneous menarche and oestrogen treatment, served to develop a new Turner-specific final height (FH) prediction method (PTS). Analogous to the Tanner and Whitehouse mark 2 method (TW) for normal children, smoothed regression coefficients are tabulated for PTS for height (H), chronological age (CA) and bone age (BA), both TW RUS and Greulich and Pyle (GP). Comparison between all methods on 40 measurement points of 21 Danish TS women showed small mean prediction errors (predicted minus observed FH) and corresponding standard deviation (ESD) of both PTSRUS and PTSGP, in particular at the "younger" ages. Comparison between existing methods on the Dutch data indicated a tendency to overpredict FH. Before the CA of 9 years the mean prediction errors of the Bayley and Pinneau and TW methods were markedly higher compared with the other methods. Overall, the simplest methods--projected height (PAH) and its modification (mPAH)--were remarkably good at most ages. Although the validity of PTSRUS and PTSGP remains to be tested below the age of 6 years, both gave small mean prediction errors and a high accuracy. FH prediction in TS is important in the consideration of growth-promoting therapy or in the evaluation of its effects.

  2. Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss.

    PubMed

    Dobkin, Carl; Radu, Gabriel; Ding, Xiao-Hua; Brown, W Ted; Nolin, Sarah L

    2009-10-01

    The fragile X mutation is an expansion of a CGG triplet repeat in the 5' untranslated region of the FMR1 gene. Expansion to >200 repeats (the "full mutation") silences FMR1 transcription and leads to the fragile X mental retardation syndrome in males and in some females. It also affects the structure of the mitotic chromosome as evidenced by a folate sensitive fragile site. Isolated cases of 45,X/46,XX (mosaic Turner syndrome) in full mutation females have been reported but an increased prevalence was not apparent from these reports. PCR and Southern analysis of the CGG repeat in 423 prenatal female samples identified 106 full mutation cases. Surprisingly five of these had 45,X/4,6XX mosaicism while none of the other 317 female fetuses did. In two of the five cases >or=50% of the cells were reported to be 45,X and in the other three, Turner syndrome using polymorphisms and single cell cloning to identify the X chromosome that was lost. Our analysis indicates that at least four of the five full mutation mosaicism cases were due to loss of the maternal, full mutation chromosome. These data indicate that 45,X/46,XX mosaicism is much more common than expected in fragile X full mutation females. Moreover, they suggest that the presence of the fragile X full mutation on a chromosome may predispose it to loss during mitosis, possibly due to the altered structure of the metaphase fragile X chromosome.

  3. Scleroderma renal crisis precipitated by steroid treatment in systemic lupus erythematosus and scleroderma overlap syndrome.

    PubMed

    Alayoud, Ahmed; Qamouss, Ouadie; Hamzi, Amine; Benyahia, Mohammed; Oualim, Zouhir

    2012-09-01

    Connective tissue disorders can overlap in various ways. Patients may present with features of more than one specific disease without satisfying the diagnostic criteria and thereafter evolve into a specific disease entity. Occasionally, patients may fulfil simultaneously the diagnostic criteria of two or more diseases. Several cases of systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) overlap syndrome have been reported. SLE patients often develop lupus nephritis, the treatment of which is based on immunosuppression with corticosteroids (CS) and cytotoxic drugs. However, the use of high dose of CS has been associated with scleroderma renal crisis (SRC) in patient with SSc. a 43-year-old woman presented to the nephrology department of the Military hospital in Rabat, Morocco, in August 2011 with progressive dyspnea and oliguria. She was diagnosed as SLE and scleroderma overlap syndrome based on clinical and serological markers. Renal biopsy showed lupus nephritis. Immunosuppression consisting of high-dose steroid and cyclophosphamide pulses was given. There was response to treatment but 15 days later the course of the disease was complicated by scleroderma renal crisis evidenced by elevated blood pressure, deteriorating kidney function, hemolysis and thrombocytopenia. The patient was treated with perindopril and rapid reduction of steroid doses. This was followed by correction of hemolysis and thrombocytopenia. Two months later, the patient was off dialysis, but had chronic renal insufficiency with an estimated GFR of 25 ml/minute. This report describes the occurrence of SRC in a patient with lupus nephritis and SSc/ SLE overlap syndrome who was treated by CS and cyclophosphamide.

  4. [Catatonia and neuroleptic malignant syndrome in view of a psychopathological and pathophysiological overlap: a brief review].

    PubMed

    Asztalos, Zoltán; Egervári, Luca; Andrássy, Gábor; Faludi, Gábor; Frecska, Ede

    2014-03-01

    Catatonia was first described in the 19th century as a syndrome with motor, affective and behavioral symptoms. During the 20th century it was rather regarded as a rare motoric manifestation of schizophrenia and that classification has almost resulted in the disappearance of catatonia among patients outside of the schizophrenia spectrum. With the introduction of neuroleptics, the incidence of catatonic schizophrenia also declined which was attributed to effective treatment. Simultaneously, neuroleptic malignant syndrome was described, which shows many similarities with catatonia. Recently, several researchers suggested a common origin of the two disorders. In this paper we review case reports of the last five years, in which both neuroleptic malignant syndrome and catatonia had emerged as a diagnosis. Additionally, based on the relevant literature, we propose a common hypothetical pathomechanism with therapeutic implications for the two syndromes. Besides underlining the difficulties of differential diagnosis, the reviewed cases demonstrate a transition between the two illnesses. The similarities and the possible shifts may suggest a neuropathological and pathophysiological overlap in the background of the two syndromes. Electroconvulsive therapy and benzodiazepines seem to be an effective treatment in both syndromes. These two treatment approaches can be highly valuable in clinical practice, especially if one considers the difficulties of differential diagnosis.

  5. Turner Syndrome (For Teens)

    MedlinePlus

    ... girls may have problems with body image or self-esteem. People with TS are all different. Some may ... volunteer work. Helping other people can boost your self-esteem and your confidence, too. Consider talking to a ...

  6. Turner Syndrome (For Parents)

    MedlinePlus

    ... psychological problems, some girls do have problems with body image or self-esteem and some also might be hyperactive. Despite these ... personality. This can help build a more positive body image and self-esteem. Encourage participation in activities in which height isn' ...

  7. Turner Syndrome (For Parents)

    MedlinePlus

    ... skills, and social maturity before enrolling her in kindergarten. If learning problems are identified, early preventive and ... The Nemours Foundation, iStock, Getty Images, Corbis, Veer, Science Photo Library, Science Source Images, Shutterstock, and Clipart. ...

  8. Turner Syndrome (For Teens)

    MedlinePlus

    ... the condition may have learning difficulties, particularly in math. Many have a hard time with tasks that ... The Nemours Foundation, iStock, Getty Images, Corbis, Veer, Science Photo Library, Science Source Images, Shutterstock, and Clipart. ...

  9. Overlap of functional heartburn and gastroesophageal reflux disease with irritable bowel syndrome.

    PubMed

    de Bortoli, Nicola; Martinucci, Irene; Bellini, Massimo; Savarino, Edoardo; Savarino, Vincenzo; Blandizzi, Corrado; Marchi, Santino

    2013-09-21

    Several studies indicate a significant degree of overlap between irritable bowel syndrome (IBS) and gastroesophageal reflux disease (GERD). Likewise, both functional heartburn (FH) and IBS are functional digestive disorders that may occur in the same patients. However, data establishing a solid link between FH and IBS are lacking, mainly because the clinical definition of FH has undergone substantial changes over the years. The available literature on the overlap between GERD or FH and IBS highlights considerable heterogeneity in terms of the criteria and diagnostic procedures used to assess heartburn and IBS. In particular, several epidemiological studies included patients with concomitant IBS and GERD without any attempt to distinguish FH (as defined by the Rome III criteria) from GERD via pathophysiological investigations. Independent of these critical issues, there is preliminary evidence supporting a significant degree of FH-IBS overlap. This underscores the need for studies based on updated diagnostic criteria and accurate pathophysiological classifications, particularly to distinguish FH from GERD. This distinction would represent an essential starting point to achieving a better understanding of pathophysiology in the subclasses of patients with GERD and FH and properly assessing the different degrees of overlap between IBS and the subcategories of heartburn.The present review article intends to appraise and critically discuss current evidence supporting a possible concomitance of GERD or FH with IBS in the same patients and to highlight the pathophysiological relationships between these disorders.

  10. Overlap of functional heartburn and gastroesophageal reflux disease with irritable bowel syndrome

    PubMed Central

    de Bortoli, Nicola; Martinucci, Irene; Bellini, Massimo; Savarino, Edoardo; Savarino, Vincenzo; Blandizzi, Corrado; Marchi, Santino

    2013-01-01

    Several studies indicate a significant degree of overlap between irritable bowel syndrome (IBS) and gastroesophageal reflux disease (GERD). Likewise, both functional heartburn (FH) and IBS are functional digestive disorders that may occur in the same patients. However, data establishing a solid link between FH and IBS are lacking, mainly because the clinical definition of FH has undergone substantial changes over the years. The available literature on the overlap between GERD or FH and IBS highlights considerable heterogeneity in terms of the criteria and diagnostic procedures used to assess heartburn and IBS. In particular, several epidemiological studies included patients with concomitant IBS and GERD without any attempt to distinguish FH (as defined by the Rome III criteria) from GERD via pathophysiological investigations. Independent of these critical issues, there is preliminary evidence supporting a significant degree of FH-IBS overlap. This underscores the need for studies based on updated diagnostic criteria and accurate pathophysiological classifications, particularly to distinguish FH from GERD. This distinction would represent an essential starting point to achieving a better understanding of pathophysiology in the subclasses of patients with GERD and FH and properly assessing the different degrees of overlap between IBS and the subcategories of heartburn.The present review article intends to appraise and critically discuss current evidence supporting a possible concomitance of GERD or FH with IBS in the same patients and to highlight the pathophysiological relationships between these disorders. PMID:24124323

  11. A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma.

    PubMed

    Pillai, Manju R; Hasini, P P; Ahuja, Ashish; Krishnadas, S R

    2017-07-01

    A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes. Despite multiple measures over a 7-year period, her IOP still remained uncontrolled with gradual progression of the glaucomatous damage. This case exhibits a very rare occurrence of overlapping syndromes reported only a handful of times in literature. Most cases with Sturge-Weber syndrome have ipsilateral glaucoma affecting the eye on the same side as the port-wine stain. This case presented with bilateral refractory childhood glaucomas, which is exceedingly rare.

  12. A rare case of overlapping Sturge–Weber syndrome and Klippel–Trenaunay syndrome associated with bilateral refractory childhood glaucoma

    PubMed Central

    Pillai, Manju R; Hasini, P P; Ahuja, Ashish; Krishnadas, S R

    2017-01-01

    A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge–Weber syndrome and Klippel–Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes. Despite multiple measures over a 7-year period, her IOP still remained uncontrolled with gradual progression of the glaucomatous damage. This case exhibits a very rare occurrence of overlapping syndromes reported only a handful of times in literature. Most cases with Sturge–Weber syndrome have ipsilateral glaucoma affecting the eye on the same side as the port-wine stain. This case presented with bilateral refractory childhood glaucomas, which is exceedingly rare. PMID:28724825

  13. Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.

    PubMed

    Polityko, Anna D; Khurs, Olga M; Kulpanovich, Anna I; Mosse, Konstantin A; Solntsava, Angelica V; Rumyantseva, Natalia V; Naumchik, Irina V; Liehr, Thomas; Weise, Anja; Mkrtchyan, Hasmik

    2009-01-01

    An unusual mosaic karyotype was detected in a 6-year-old female patient with clinical diagnosis of Turner syndrome (TS). Cytogenetic and molecular cytogenetic studies revealed besides a cell line with 45,X a second cell line where the short arm of the Y-chromosome was translocated onto the short arm of a chromosome 7; karyotype: 45,X,der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)/45,X. To delineate the mechanisms of rearrangement and karyotypic evolution in this case, further studies were performed. A maternal origin of the X-chromosome and biparental origin of both chromosomes 7 were determined by microsatellite analysis. Furthermore, using parental-origin-determination fluorescence in situ hybridization (pod-FISH) it could be established that the derivative chromosome 7 was of paternal origin. Overall, this is to the best of our knowledge the first report of such a complex mosaic TS karyotype.

  14. Juvenile diffuse systemic sclerosis/systemic lupus erythematosus overlap syndrome--a case report.

    PubMed

    Lin, Heng-Kuei; Wang, Jiaan-Der; Fu, Lin-Shien

    2012-06-01

    We report a rare case of diffuse systemic sclerosis (SSc) evolving into diffuse SSc/systemic lupus erythematosus (SLE) overlap syndrome. A 15-year-old boy was diagnosed as diffuse SSc with initial presentations of Raynaud's phenomenon and skin tightening. He underwent Chinese herbal treatment and clinical symptoms deteriorated in the following 3 years. On admission to our ward, serositis with pleural effusion, severe pulmonary fibrosis with moderate pulmonary hypertension, swallowing difficulty, and polyarthritis were observed. Autoantibody profiles revealed concurrence of anti-double-stranded DNA, anti-Smith, anti-topoisomerase I, and anti-ribonucleoprotein antibodies. The patient fulfills the criteria for both diffuse SSc and SLE. After drainage for pleural effusion accompanied by oral prednisolone and sildenafil, there were improvement of respiratory distress, swallowing difficulty, and pulmonary hypertension. In conclusion, connective tissue diseases may overlap with each other during the disease course. Serial follow-up for clinical symptoms as well as serological changes is recommended.

  15. Respiratory mechanics and ventilatory control in overlap syndrome and obesity hypoventilation

    PubMed Central

    2013-01-01

    The overlap syndrome of obstructive sleep apnoea (OSA) and chronic obstructive pulmonary disease (COPD), in addition to obesity hypoventilation syndrome, represents growing health concerns, owing to the worldwide COPD and obesity epidemics and related co-morbidities. These disorders constitute the end points of a spectrum with distinct yet interrelated mechanisms that lead to a considerable health burden. The coexistence OSA and COPD seems to occur by chance, but the combination can contribute to worsened symptoms and oxygen desaturation at night, leading to disrupted sleep architecture and decreased sleep quality. Alveolar hypoventilation, ventilation-perfusion mismatch and intermittent hypercapnic events resulting from apneas and hypopneas contribute to the final clinical picture, which is quite different from the “usual” COPD. Obesity hypoventilation has emerged as a relatively common cause of chronic hypercapnic respiratory failure. Its pathophysiology results from complex interactions, among which are respiratory mechanics, ventilatory control, sleep-disordered breathing and neurohormonal disturbances, such as leptin resistance, each of which contributes to varying degrees in individual patients to the development of obesity hypoventilation. This respiratory embarrassment takes place when compensatory mechanisms like increased drive cannot be maintained or become overwhelmed. Although a unifying concept for the pathogenesis of both disorders is lacking, it seems that these patients are in a vicious cycle. This review outlines the major pathophysiological mechanisms believed to contribute to the development of these specific clinical entities. Knowledge of shared mechanisms in the overlap syndrome and obesity hypoventilation may help to identify these patients and guide therapy. PMID:24256627

  16. Respiratory mechanics and ventilatory control in overlap syndrome and obesity hypoventilation.

    PubMed

    Verbraecken, Johan; McNicholas, Walter T

    2013-11-20

    The overlap syndrome of obstructive sleep apnoea (OSA) and chronic obstructive pulmonary disease (COPD), in addition to obesity hypoventilation syndrome, represents growing health concerns, owing to the worldwide COPD and obesity epidemics and related co-morbidities. These disorders constitute the end points of a spectrum with distinct yet interrelated mechanisms that lead to a considerable health burden. The coexistence OSA and COPD seems to occur by chance, but the combination can contribute to worsened symptoms and oxygen desaturation at night, leading to disrupted sleep architecture and decreased sleep quality. Alveolar hypoventilation, ventilation-perfusion mismatch and intermittent hypercapnic events resulting from apneas and hypopneas contribute to the final clinical picture, which is quite different from the "usual" COPD. Obesity hypoventilation has emerged as a relatively common cause of chronic hypercapnic respiratory failure. Its pathophysiology results from complex interactions, among which are respiratory mechanics, ventilatory control, sleep-disordered breathing and neurohormonal disturbances, such as leptin resistance, each of which contributes to varying degrees in individual patients to the development of obesity hypoventilation. This respiratory embarrassment takes place when compensatory mechanisms like increased drive cannot be maintained or become overwhelmed. Although a unifying concept for the pathogenesis of both disorders is lacking, it seems that these patients are in a vicious cycle. This review outlines the major pathophysiological mechanisms believed to contribute to the development of these specific clinical entities. Knowledge of shared mechanisms in the overlap syndrome and obesity hypoventilation may help to identify these patients and guide therapy.

  17. Normal growth and normalization of hypergonadotropic hypogonadism in atypical Turner syndrome (45,X/46,XX/47,XXX). Correlation of body height with distribution of cell lines.

    PubMed

    Partsch, C J; Pankau, R; Sippell, W G; Tolksdorf, M

    1994-06-01

    A comparison has been made of a case with 45,X/46,XX/47,XXX mosaicism with some 50 cases in the literature. A significant positive correlation was found between height standard deviation scores of mosaic patients from the literature and the frequency of cells with a normal chromosome constitution (n = 21, rs = 0.552, P < 0.01). In contrast, a significant negative correlation was seen between body height and the frequency of cells with a 45,X constitution (n = 21, rs = -0.594, P < 0.01). There was no significant correlation of height standard deviation score with the 47,XXX cell line (n = 21, rs = -0.353). A patient with a rare chromosomal mosaicism (45,X/46,XX/47,XXX) is described. The diagnosis was first made by chromosome analysis in amniotic cells. The patient showed no symptoms suggestive of Turner syndrome and growth followed the 75th height percentile. Basal and gonadotropin-releasing hormone stimulated gonadotropin levels normalized after age 4.8 years and did not subsequently return to hypergonadotropic levels. In blood lymphocytes, there was an increase in the frequency of cells with a normal chromosome constitution over 9 years. This in vivo cell selection is discussed. Chromosome analysis in skin fibroblasts showed the same triple mosaicism with a similar distribution of cell lines as in blood lymphocytes. In conclusion, statistical evidence was demonstrated that the severity of short stature is correlated with the distribution of cell lines in 45,X/46,XX/47,XXX mosaicism. This finding is of importance for the genetic counselling in cases of prenatal diagnosis of mosaic Turner syndrome.

  18. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    PubMed Central

    Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patıroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet

    2016-01-01

    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID:27612988

  19. A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.

    PubMed

    Lara, Diego A; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

    2017-01-01

    Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1-6.5). Comparing those with HLHS/TS+ to HLHS/TS-, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809-2650) versus 3196 g (IQR 2807-3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS- (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53-5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24-4.73; HR for TS- females versus males: 1.41, 95% CI 1.08-1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS. © 2016 Wiley Periodicals, Inc.

  20. Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children.

    PubMed

    Cabrera, Natalia; Duquesne, Agnes; Desjonquères, Marine; Larbre, Jean-Paul; Lega, Jean-Christophe; Fabien, Nicole; Belot, Alexandre

    2016-01-01

    Arthritis is one of the main manifestations of mixed connective tissue disease (MCTD) and overlap syndrome in children and can be responsible for functional disability. We report on 2 children with arthritis that were dramatically improved by a treatment with interleukin-6 (IL-6) blockers in the context of connective tissue disease. However, in both cases, other systemic autoimmune symptoms were not modified by the treatment and autoantibodies tend to increase, suggesting a differential effect of IL-6 inhibition on articular inflammation and systemic autoimmunity.

  1. Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome: Nothing New Under the Sun.

    PubMed

    Putcha, Nirupama; Wise, Robert A

    2016-08-01

    The debate about whether asthma and chronic obstructive pulmonary disease (COPD) are distinct clinical syndromes is not new; there is heightened interest in understanding the group of individuals with obstructive lung disease who seem to have elements of both conditions because recent studies have demonstrated increased risk for respiratory events and exacerbations. We describe the clinical characteristics of this subtype of disease and suggest 4 working definitions of individuals who would fall into the asthma-COPD overlap category. Understanding the mechanisms underlying these subtypes will hopefully lead into a better understanding of therapeutic strategies that can target specific pathobiologic pathways.

  2. Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children

    PubMed Central

    Cabrera, Natalia; Duquesne, Agnes; Desjonquères, Marine; Larbre, Jean-Paul; Lega, Jean-Christophe; Fabien, Nicole; Belot, Alexandre

    2016-01-01

    Arthritis is one of the main manifestations of mixed connective tissue disease (MCTD) and overlap syndrome in children and can be responsible for functional disability. We report on 2 children with arthritis that were dramatically improved by a treatment with interleukin-6 (IL-6) blockers in the context of connective tissue disease. However, in both cases, other systemic autoimmune symptoms were not modified by the treatment and autoantibodies tend to increase, suggesting a differential effect of IL-6 inhibition on articular inflammation and systemic autoimmunity. PMID:27738519

  3. Control of breathing in obstructive sleep apnoea and in patients with the overlap syndrome.

    PubMed

    Radwan, L; Maszczyk, Z; Koziorowski, A; Koziej, M; Cieslicki, J; Sliwinski, P; Zielinski, J

    1995-04-01

    In some patients obstructive sleep apnoea (OSA) may co-exist with chronic obstructive pulmonary disease (COPD) and respiratory failure; the so-called "overlap syndrome". Obstructive, hypercapnic patients have both blunted ventilatory and mouth occlusion pressure responses during CO2 stimulation. The purpose of this study was to compare the pattern of breathing and CO2 response between OSA patients and those with the overlap syndrome. Twenty obese men with OSA and normal lung function (Group A), 11 obese men with overlap syndrome (Group B) and 13 healthy nonobese subjects (Group C) were examined. Lung function tests, breathing pattern, mouth occlusion pressure (P0.2) at rest, and respiratory responses during CO2 rebreathing were investigated. Diagnosis of OSA was established by standard polysomnography. There were no statistical differences between Groups A and B in apnoea & hypopnoea index (62 vs 54), mean arterial oxygen saturation (SaO2) during sleep (85 vs 84%) and in body mass index (BMI) 34.3 vs 36.3 kg.m-2. Minute ventilation, mean inspiratory flow and P0.2 at rest were increased in both groups of patients in comparison to controls. During CO2 rebreathing, group A had normal ventilatory and P0.2 responses, similar to controls, (2.7 +/- 1.1 vs 2.1 +/- 0.4 l.min-1.mmHg-1 and 0.7 +/- 0.3 vs 0.71 +/- 0.25 cmH2O.mmHg-1, respectively). However, Group B had significantly decreased ventilatory and P0.2 responses to CO2 (0.71 +/- 0.23 l.min-1.mmHg-1 and 0.34 +/- 0.17 cmH2O.mmHg-1, respectively). This comparison showed that patients with OSA had normal CO2 response when awake, whereas those with overlap syndrome had diminished CO2 response when awake.(ABSTRACT TRUNCATED AT 250 WORDS)

  4. Disappearance of left ventricular hypertrabeculation/noncompaction and sudden death in a patient with Turner mosaic syndrome.

    PubMed

    Altenberger, Johann; Hasenauer, Georg; Granitz, Marcel; Stöllberger, Claudia; Finsterer, Josef

    2012-07-15

    Left ventricular hypertrabeculation/noncompaction is associated with various neuromuscular and other rare genetic disorders. In a 53-year-old man with a Turner mosaic karyotype, regression of left ventricular hypertrabeculation/noncompaction was documented by cardiac magnetic resonance imaging and echocardiography after 7 years. During that time, coronary 3-vessel disease and severe left ventricular dys function developed, necessitating coronary bypass surgery. Postoperatively, left ventricular systolic function recovered to an ejection fraction of 40%. The patient died suddenly 6 months postoperatively. In conclusion, the disappearance of left ventricular hypertrabeculation/noncompaction was most likely due to scar formation.

  5. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.

    PubMed

    Knoll, J H; Asamoah, A; Pletcher, B A; Wagstaff, J

    1995-01-16

    We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The duplication appears to involve 22q11.2-q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome.

  6. Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome

    SciTech Connect

    Knoll, J.H.M.; Asamoah, A.; Wagstaff, J.

    1995-01-16

    We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The duplication appears to involve 22q11.2-q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome. 17 refs., 3 figs., 1 tab.

  7. Autoimmune hepatitis in a teenage boy: 'overlap' or 'outlier' syndrome--dilemma for internists.

    PubMed

    Talukdar, Arunansu; Khanra, Dibbendhu; Mukherjee, Kabita; Saha, Manjari

    2013-02-08

    An 18-year-old boy presented with upper gastrointestinal bleeding and jaundice. Investigations revealed coarse hepatomegaly, splenomegaly and advanced oesophageal varices. Blood reports showed marked rise of alkaline phosphatase and more than twofold rise of transaminases and IgG. Liver histology was suggestive of piecemeal necrosis, interphase hepatitis and bile duct proliferation. Antinuclear antibody was positive in high titre along with positive antismooth muscle antibody and antimitochondrial antibody. The patient was positive for human leukocyte antigen DR3 type. Although an 'overlap' syndrome exists between autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC), a cholestatic variant of AIH, a rare 'outlier' syndrome could not be excluded in our case. Moreover, 'the chicken or the egg', AIH or PBC, the dilemma for the internists continued. The patient was put on steroid and ursodeoxycholic acid with unsatisfactory response. The existing international criteria for diagnosis of AIH are not generous enough to accommodate its variant forms.

  8. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

    PubMed

    Prakash, Siddharth K; Bondy, Carolyn A; Maslen, Cheryl L; Silberbach, Michael; Lin, Angela E; Perrone, Laura; Limongelli, Giuseppe; Michelena, Hector I; Bossone, Eduardo; Citro, Rodolfo; Lemaire, Scott A; Body, Simon C; Milewicz, Dianna M

    2016-12-01

    Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. © 2016 Wiley Periodicals, Inc.

  9. Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry

    PubMed Central

    Prakash, Siddharth K.; Bondy, Carolyn A.; Maslen, Cheryl L.; Silberbach, Michael; Lin, Angela E.; Perrone, Laura; Limongelli, Giuseppe; Michelena, Hector I.; Bossone, Eduardo; Citro, Rodolfo; Lemaire, Scott A.; Body, Simon C.; Milewicz, Dianna M.

    2016-01-01

    Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14 and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. PMID:27604636

  10. Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

    PubMed

    Knopp, C; Rudnik-Schöneborn, S; Zerres, K; Gencik, M; Spengler, S; Eggermann, T

    2015-01-01

    Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson-Golabi-Behmel syndrome (SGBS) and Beckwith-Wiedemann syndrome (BWS) which share pre- and postnatal overgrowth, macroglossia, umbilical hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features. Based on the clinical history of a patient, who was diagnosed with BWS shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing facial dysmorphia. In addition, we delineate further clinical findings that may allow differentiation between both conditions. © 2014 Wiley Periodicals, Inc.

  11. Fibromyalgia and overlapping disorders: the unifying concept of central sensitivity syndromes.

    PubMed

    Yunus, Muhammad B

    2007-06-01

    To discuss fibromyalgia syndrome (FMS) and overlapping conditions, eg, irritable bowel syndrome, headaches, and chronic fatigue syndrome, within the concept of central sensitivity syndromes (CSS). A critical overview of the literature and incorporation of the author's own views. The concept of CSS seems viable. It is based on mutual associations among the CSS conditions as well as the evidence for central sensitization (CS) among several CSS members. However, such evidence is weak or not available in other members at this time, requiring further studies. The biology of CSS is based on neuroendocrine aberrations, including CS, that interact with psychosocial factors to cause a number of symptoms. CSS is an important new concept that embraces the biopsychosocial model of disease. Further critical studies are warranted to fully test this concept. However, it seems to have important significance for new directions for research and patient care involving physician and patient education. Each patient, irrespective of diagnosis, should be treated as an individual considering both the biological and psychosocial contributions to his or her symptoms and suffering.

  12. Causes of death in patients with asthma and asthma–chronic obstructive pulmonary disease overlap syndrome

    PubMed Central

    Harada, Tomoya; Yamasaki, Akira; Fukushima, Takehito; Hashimoto, Kiyoshi; Takata, Miki; Kodani, Masahiro; Okazaki, Ryota; Takeda, Kenichi; Watanabe, Masanari; Kurai, Jun; Shimizu, Eiji

    2015-01-01

    Background The administration of inhaled corticosteroids and worldwide usage of several asthma guidelines have improved asthma mortality. Elderly patients with asthma show high mortality rates, and may have several comorbidities, including overlap with chronic obstructive pulmonary disease (COPD). Among patients showing asthma overlapped with COPD (asthma–COPD overlap syndrome; ACOS), mortality is worse than for asthma alone. Therefore, we investigated comorbidities, malignancies, and causes of death in patients with asthma and ACOS. Methods This was a retrospective study. From January 2000 to March 2012, 650 patients were followed up at Tottori University Hospital. Medical records were reviewed to collect data regarding patient characteristics and comorbidities, and causes of death were recorded for patients who died during the study period. Results Eighty-seven patients died during the study period. The most frequent cause of death was malignancy. The proportion of malignant disease was 21.7% in all patients, 19.4% in patients with asthma alone, and 32.4% in patients with ACOS. One patient died from an asthma attack during this period. Conclusion The most frequent cause of death in patients with asthma and ACOS was malignant disease. It is necessary to control not only asthma but also comorbidities in patients with asthma, especially in those with ACOS. PMID:25834418

  13. Burnout and depression: Label-related stigma, help-seeking, and syndrome overlap.

    PubMed

    Bianchi, Renzo; Verkuilen, Jay; Brisson, Romain; Schonfeld, Irvin Sam; Laurent, Eric

    2016-11-30

    We investigated whether burnout and depression differed in terms of public stigma and help-seeking attitudes and behaviors. Secondarily, we examined the overlap of burnout and depressive symptoms. A total of 1046 French schoolteachers responded to an Internet survey in November-December 2015. The survey included measures of public stigma, help-seeking attitudes and behaviors, burnout and depressive symptoms, self-rated health, neuroticism, extraversion, history of anxiety or depressive disorder, social desirability, and socio-demographic variables. The burnout label appeared to be less stigmatizing than the depression label. In either case, however, fewer than 1% of the participants exhibited stigma scores signaling agreement with the proposed stigmatizing statements. Help-seeking attitudes and behaviors did not differ between burnout and depression. Participants considered burnout and depression similarly worth-treating. A huge overlap was observed between the self-report, time-standardized measures of burnout and depressive symptoms (disattenuated correlation: .91). The overlap was further evidenced in a confirmatory factor analysis. Thus, while burnout and depression as syndromes are unlikely to be distinct, how burnout and depression are socially represented may differ. To our knowledge, this study is the first to compare burnout- and depression-related stigma and help-seeking in the French context. Cross-national, multi-occupational studies examining different facets of stigma are needed.

  14. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

    PubMed

    Wooderchak-Donahue, Whitney L; McDonald, Jamie; O'Fallon, Brendan; Upton, Paul D; Li, Wei; Roman, Beth L; Young, Sarah; Plant, Parker; Fülöp, Gyula T; Langa, Carmen; Morrell, Nicholas W; Botella, Luisa M; Bernabeu, Carmelo; Stevenson, David A; Runo, James R; Bayrak-Toydemir, Pinar

    2013-09-05

    Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in these genes, suggesting that there are undiscovered mutations in other genes for HHT and possibly vascular disorders with overlapping phenotypes. The genetic etiology for 191 unrelated individuals clinically suspected to have HHT was investigated with the use of exome and Sanger sequencing; these individuals had no mutations in ENG, ACVRL1, and SMAD4. Mutations in BMP9 (also known as GDF2) were identified in three unrelated probands. These three individuals had epistaxis and dermal lesions that were described as telangiectases but whose location and appearance resembled lesions described in some individuals with RASA1-related disorders (capillary malformation-arteriovenous malformation syndrome). Analyses of the variant proteins suggested that mutations negatively affect protein processing and/or function, and a bmp9-deficient zebrafish model demonstrated that BMP9 is involved in angiogenesis. These data confirm a genetic cause of a vascular-anomaly syndrome that has phenotypic overlap with HHT. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  15. Therapeutic approaches to asthma-chronic obstructive pulmonary disease overlap syndromes.

    PubMed

    Barnes, Peter J

    2015-09-01

    The recognition that there are some patients with features of asthma and chronic obstructive pulmonary disease (COPD) has highlighted the need to develop more specific treatments for these clinical phenotypes. Some patients with COPD have predominantly eosinophilic inflammation and might respond to high doses of inhaled corticosteroids and newly developed specific antieosinophil therapies, including blocking antibodies against IL-5, IL-13, IL-33, and thymic stromal lymphopoietin, as well as oral chemoattractant receptor-homologous molecule expressed on TH2 cells antagonists. Other patients have severe asthma or are asthmatic patients who smoke with features of COPD-induced inflammation and might benefit from treatments targeting neutrophils, including macrolides, CXCR2 antagonists, phosphodiesterase 4 inhibitors, p38 mitogen-activating protein kinase inhibitors, and antibodies against IL-1 and IL-17. Other patients appear to have largely fixed obstruction with little inflammation and might respond to long-acting bronchodilators, including long-acting muscarinic antagonists, to reduce hyperinflation. Highly selected patients with severe asthma might benefit from bronchial thermoplasty. Some patients with overlap syndromes can be conveniently treated with triple fixed-dose combination inhaler therapy with an inhaled corticosteroid, long-acting β2-agonist, and long-acting muscarinic antagonist, several of which are now in development. Corticosteroid resistance is a feature of asthma-COPD overlap syndrome, and understanding the various molecular mechanisms of this resistance has identified novel therapeutic targets and presented the prospect of therapies that can restore corticosteroid responsiveness.

  16. [Childhood-onset systemic polyarteritis nodosa and systemic lupus erythematosus: an overlap syndrome?

    PubMed

    Marques, Victor L S; Guariento, Andressa; Simões, Marlise S M; Blay, Gabriela; Lotito, Ana Paola N; Silva, Clovis A

    2015-03-04

    We described herein a patient who presented an overlap syndrome of childhood-onset systemic polyarteritis nodosa (c-PAN) and childhood-onset systemic lupus erythematosus (c-SLE). A 9-year-old girl presented tender subcutaneous nodules on feet, arterial hypertension, right hemiplegia and dysarthric speech. She was hospitalized due to stroke and left foot drop. Brain computer tomography showed ischemic stroke. Magnetic resonance angiography revealed stenosis in the middle cerebral and internal carotid arteries. Electroneuromyography identified a mononeuropathy of left posterior tibial nerve and she fulfilled the c-PAN validated criteria. She was treated with intravenous methylprednisolone pulse therapy followed by prednisone, that was progressively tapered, six months of intravenous cyclophosphamide and after that she received azathioprine for 19 months. At the age of 14 years and 9 months, she presented malar rash, photosensitivity, edema in lower limbs and arterial hypertension. The proteinuria was 1.7g/day. Antinuclear antibodies (ANA) were 1/1280 (homogeneous nuclear pattern) and anti-dsDNA antibodies were positive. Renal biopsy showed focal proliferative and membranous glomerulonephritis. Therefore, she fulfilled the American College of Rheumatology classification criteria for SLE and she was treated with prednisone, hydroxychloroquine and mycophenolate mofetil. In conclusion, we described herein a possible overlap syndrome of two autoimmune diseases, where c-PAN occurred five years before the c-SLE diagnosis. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

  17. Irritable bowel syndrome and inflammatory bowel disease overlap syndrome: pieces of the puzzle are falling into place

    PubMed Central

    Abdul Rani, Rafiz; Raja Ali, Raja Affendi

    2016-01-01

    Irritable bowel syndrome (IBS), a common gastrointestinal disorder involving the gut-brain axis, and inflammatory bowel disease (IBD), a chronic relapsing inflammatory disorder, are both increasing in incidence and prevalence in Asia. Both have significant overlap in terms of symptoms, pathophysiology, and treatment, suggesting the possibility of IBS and IBD being a single disease entity albeit at opposite ends of the spectrum. We examined the similarities and differences in IBS and IBD, and offer new thoughts and approaches to the disease paradigm. PMID:27799880

  18. Expiratory Time Constant and Sleep Apnea Severity in the Overlap Syndrome.

    PubMed

    Wiriyaporn, Darunee; Wang, Lu; Aboussouan, Loutfi S

    2016-03-01

    Lung mechanics in the overlap of COPD and sleep apnea impact the severity of sleep apnea. Specifically, increased lung compliance with hyperinflation protects against sleep apnea, whereas increased airway resistance worsens sleep apnea. We sought to assess whether the expiratory time constant, which reflects lung mechanics, is associated with sleep apnea severity in such patients. Polysomnographies in 34 subjects with the overlap syndrome were reviewed. Three time constants were measured for each of up to 5 stages (wake, NREM stages, and REM). The time constants were derived by fitting time and pressure coordinates on the expiratory portion of a nasal pressure signal along an exponentially decaying equation, and solving for the time constant. Demographics, morphometrics, wake end-tidal CO2, right diaphragmatic arc on a chest radiograph, and the apnea-hypopnea index (AHI) were recorded. The time constant was not associated with age, gender, body mass index, right diaphragmatic arc, or wake end-tidal CO2, and was not significantly different between sleep stages. A mean time constant (TC) was therefore obtained. Subjects with a TC > 0.5 seconds had a greater AHI than those with a TC ≤ 0.5 seconds (median AHI 58 vs. 18, respectively, p = 0.003; Odds ratio of severe sleep apnea 10.6, 95% CI 3.9-51.1, p = 0.005). A larger time constant in the overlap syndrome is associated with increased odds of severe sleep apnea, suggesting a greater importance of airway resistance relative to lung compliance in sleep apnea causation in these subjects. © 2016 American Academy of Sleep Medicine.

  19. Systemic Lupus Erythematosus and Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Overlap Syndrome in Patients With Biopsy-Proven Glomerulonephritis

    PubMed Central

    Jarrot, Pierre-Andre; Chiche, Laurent; Hervier, Baptiste; Daniel, Laurent; Vuiblet, Vincent; Bardin, Nathalie; Bertin, Daniel; Terrier, Benjamin; Amoura, Zahir; Andrés, Emmanuel; Rondeau, Eric; Hamidou, Mohamed; Pennaforte, Jean-Loup; Halfon, Philippe; Daugas, Eric; Dussol, Bertrand; Puéchal, Xavier; Kaplanski, Gilles; Jourde-Chiche, Noemie

    2016-01-01

    Abstract The aim of the study was to report the clinical, biological, and pathological characteristics of patients with glomerulonephritis (GN) secondary to systemic lupus erythematosus (SLE)/antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) overlap syndrome. A nationwide survey was conducted to identify cases of SLE/AAV overlap syndrome. Data were collected from SLE and AAV French research groups. Inclusion criteria were diagnosis of both SLE and AAV according to international classification criteria and biopsy-proven GN between 1995 and 2014. Additional cases were identified through a systematic literature review. A cohort of consecutive biopsy-proven GN was used to study the prevalence of overlapping antibodies and/or overlap syndrome. The national survey identified 8 cases of SLE/AAV overlap syndrome. All patients were female; median age was 40 years. AAV occurred before SLE (n = 3), after (n = 3), or concomitantly (n = 2). Six patients had rapidly progressive GN and 3/8 had alveolar hemorrhage. All patients had antinuclear antibodies (ANA); 7/8 had p-ANCA antimyeloperoxidase (MPO) antibodies. Renal biopsies showed lupus nephritis (LN) or pauci-immune GN. Remission was obtained in 4/8 patients. A literature review identified 31 additional cases with a similarly severe presentation. In the GN cohort, ANCA positivity was found in 30% of LN, ANA positivity in 52% of pauci-immune GN, with no correlation with pathological findings. The estimated prevalence for SLE/AAV overlap syndrome was 2/101 (2%). In patients with GN, SLE/AAV overlap syndrome may occur but with a low prevalence. Most patients have an aggressive renal presentation, with usually both ANA and anti-MPO antibodies. Further studies are needed to assess shared pathogenesis and therapeutic options. PMID:27258503

  20. Systemic Lupus Erythematosus and Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Overlap Syndrome in Patients With Biopsy-Proven Glomerulonephritis.

    PubMed

    Jarrot, Pierre-Andre; Chiche, Laurent; Hervier, Baptiste; Daniel, Laurent; Vuiblet, Vincent; Bardin, Nathalie; Bertin, Daniel; Terrier, Benjamin; Amoura, Zahir; Andrés, Emmanuel; Rondeau, Eric; Hamidou, Mohamed; Pennaforte, Jean-Loup; Halfon, Philippe; Daugas, Eric; Dussol, Bertrand; Puéchal, Xavier; Kaplanski, Gilles; Jourde-Chiche, Noemie

    2016-05-01

    The aim of the study was to report the clinical, biological, and pathological characteristics of patients with glomerulonephritis (GN) secondary to systemic lupus erythematosus (SLE)/antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) overlap syndrome.A nationwide survey was conducted to identify cases of SLE/AAV overlap syndrome. Data were collected from SLE and AAV French research groups. Inclusion criteria were diagnosis of both SLE and AAV according to international classification criteria and biopsy-proven GN between 1995 and 2014. Additional cases were identified through a systematic literature review. A cohort of consecutive biopsy-proven GN was used to study the prevalence of overlapping antibodies and/or overlap syndrome.The national survey identified 8 cases of SLE/AAV overlap syndrome. All patients were female; median age was 40 years. AAV occurred before SLE (n = 3), after (n = 3), or concomitantly (n = 2). Six patients had rapidly progressive GN and 3/8 had alveolar hemorrhage. All patients had antinuclear antibodies (ANA); 7/8 had p-ANCA antimyeloperoxidase (MPO) antibodies. Renal biopsies showed lupus nephritis (LN) or pauci-immune GN. Remission was obtained in 4/8 patients. A literature review identified 31 additional cases with a similarly severe presentation. In the GN cohort, ANCA positivity was found in 30% of LN, ANA positivity in 52% of pauci-immune GN, with no correlation with pathological findings. The estimated prevalence for SLE/AAV overlap syndrome was 2/101 (2%).In patients with GN, SLE/AAV overlap syndrome may occur but with a low prevalence. Most patients have an aggressive renal presentation, with usually both ANA and anti-MPO antibodies. Further studies are needed to assess shared pathogenesis and therapeutic options.