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Sample records for abnormal sex development

  1. Abnormal human sex chromosome constitutions

    SciTech Connect

    1993-12-31

    Chapter 22, discusses abnormal human sex chromosome constitution. Aneuploidy of X chromosomes with a female phenotype, sex chromosome aneuploidy with a male phenotype, and various abnormalities in X chromosome behavior are described. 31 refs., 2 figs.

  2. Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development.

    PubMed

    Fukami, Maki; Homma, Keiko; Hasegawa, Tomonobu; Ogata, Tsutomu

    2013-04-01

    We review the current knowledge about the "backdoor" pathway for the biosynthesis of dihydrotestosterone (DHT). While DHT is produced from cholesterol through the conventional "frontdoor" pathway via testosterone, recent studies have provided compelling evidence for the presence of an alternative "backdoor" pathway to DHT without testosterone intermediacy. This backdoor pathway is known to exist in the tammar wallaby pouch young testis and the immature mouse testis, and has been suggested to be present in the human as well. Indeed, molecular analysis has identified pathologic mutations of genes involved in the backdoor pathway in genetic male patients with undermasculinized external genitalia, and urine steroid profile analysis has argued for the relevance of the activated backdoor pathway to abnormal virilization in genetic females with cytochrome P450 oxidoreductase deficiency and 21-hydroxylase deficiency. It is likely that the backdoor pathway is primarily operating in the fetal testis in a physiological condition to produce a sufficient amount of DHT for male sex development, and that the backdoor pathway is driven with a possible interaction between fetal and permanent adrenals in pathologic conditions with increased 17-hydroxyprogesterone levels. These findings provide novel insights into androgen biosynthesis in both physiological and pathological conditions.

  3. Baseline sacroiliac joint magnetic resonance imaging abnormalities and male sex predict the development of radiographic sacroiliitis.

    PubMed

    Akar, Servet; Isik, Sibel; Birlik, Bilge; Solmaz, Dilek; Sari, Ismail; Onen, Fatos; Akkoc, Nurullah

    2013-10-01

    We evaluated the relationship between the baseline sacroiliac joint (SIJ) magnetic resonance imaging (MRI) findings and the development of radiographic sacroiliitis and tested their prognostic significance in cases of ankylosing spondylitis. Patients who had undergone an SIJ MRI at the rheumatology department were identified. Individuals for whom pelvic X-rays were available after at least 1 year of MRI were included in the analysis. All radiographs and MRI examinations were scored by two independent readers. Medical records of the patients were reviewed to obtain potentially relevant demographic and clinical data. We identified 1,069 SIJ MRIs, and 328 fulfilled our inclusion criteria. Reliability analysis revealed moderate to good inter- and intra-observer agreement. On presentation data, 14 cases were excluded because they had unequivocal radiographic sacroiliitis at baseline. After a mean of 34.8 months of follow-up, 24 patients developed radiographic sacroiliitis. The presence of active sacroiliitis (odds ratio (OR) 15.1) and structural lesions on MRI (OR 8.3), male sex (OR 4.7), fulfillment of Calin's inflammatory back pain criteria (P = 0.001), and total MRI activity score (P < 0.001) were found to be related to the development of radiographic sacroiliitis. By regression modeling, the presence of both active inflammatory and structural damage lesions on MRI and male sex were found to be predictive factors for the development of radiographic sacroiliitis. Our present results suggest that the occurrence of both active inflammatory and structural lesions in SIJs revealed by MRI is a significant risk factor for radiographic sacroiliitis, especially in male patients with early inflammatory back pain.

  4. Sex differences in abnormal white matter development associated with conduct disorder in children

    PubMed Central

    Decety, Jean; Yoder, Keith J.; Lahey, Benjamin B.

    2015-01-01

    Associations between white matter pathway abnormalities and antisocial personality disorder in adults are well replicated, and there is some evidence for an association of white matter abnormalities with conduct disorder (CD) in adolescents. In this study, white matter maturation using diffusion tensor imaging (DTI) was examined in 110 children aged 10.0 ± 0.8 years selected to vary widely in their numbers of CD symptoms. The results replicated age-related increases in fractional anisotropy (FA) found in previous studies. There was not a significant association between the number of CD symptoms and FA, but CD symptoms were found to be significantly associated with greater axial and radial diffusivity in a broad range of white matter tracts, particularly in girls. In complementary analyses, there were similar significant differences in axial and radial diffusivity between children who met diagnostic criteria for CD and healthy children with no symptoms of CD, particularly in girls. Brain structural abnormalities may contribute to the emergence of CD in childhood, perhaps playing a greater role in girls. PMID:26195297

  5. Sex differences in abnormal white matter development associated with conduct disorder in children.

    PubMed

    Decety, Jean; Yoder, Keith J; Lahey, Benjamin B

    2015-08-30

    Associations between white matter pathway abnormalities and antisocial personality disorder in adults are well replicated, and there is some evidence for an association of white matter abnormalities with conduct disorder (CD) in adolescents. In this study, white matter maturation using diffusion tensor imaging (DTI) was examined in 110 children aged 10.0 ± 0.8 years selected to vary widely in their numbers of CD symptoms. The results replicated age-related increases in fractional anisotropy (FA) found in previous studies. There was not a significant association between the number of CD symptoms and FA, but CD symptoms were found to be significantly associated with greater axial and radial diffusivity in a broad range of white matter tracts, particularly in girls. In complementary analyses, there were similar significant differences in axial and radial diffusivity between children who met diagnostic criteria for CD and healthy children with no symptoms of CD, particularly in girls. Brain structural abnormalities may contribute to the emergence of CD in childhood, perhaps playing a greater role in girls.

  6. Cognitive and Academic Skills in Children with Sex Chromosome Abnormalities.

    ERIC Educational Resources Information Center

    Bender, Bruce G.; And Others

    1991-01-01

    Follows 46 unselected children with various sex chromosome abnormalities using intellectual, language, and achievement testing. Notes that, although most children were not mentally retarded, most received special education help. Finds support for the inference that learning disorders were genetically mediated in this group. (RS)

  7. Parental decisions of prenatally detected sex chromosome abnormality.

    PubMed Central

    Kim, Yon-Ju; Park, So-Yeon; Han, Jung-Heol; Kim, Moon-Young; Yang, Jae-Hyug; Choi, Kyu-Hong; Kim, Young-Mi; Kim, Jin-Mee; Ryu, Hyun-Mee

    2002-01-01

    Because of the widespread use of amniocentesis, the prenatal recognition of sex chromosome abnormality (SCA) has become increasingly common. Recent literature provided an insight into the understanding of the natural history and prognosis for individuals with SCA. Our study was designed to review the parental decision on pregnancy with SCA. Over the last 10 yr, we diagnosed 38 cases (0.50%) with SCA out of 7,498 prenatal cases. We reviewed the records and the results of the pregnancies. We included the cases (n=25) of apparently normal anatomic fetus to analyze the factors influencing parental decision. We excluded 13 cases with obvious anomaly or presumably bad outcome. Fifteen (60%) couples continued their pregnancies and ten (40%) terminated theirs. Nine couples (64%) out of fourteen mosaicism cases continued their pregnancies. All five pregnancies assisted by reproductive technique continued their pregnancies. More pregnancies were continued when counseling was done by an MD geneticist rather than by an obstetrician. A significant trend was observed with a higher rate of pregnancy continuation in recent years. The genetic counseling is important to give appropriate information to the parents. Establishing guidelines and protocols will help both obstetricians and parents to make a decision. PMID:11850589

  8. Limb malformations and abnormal sex hormone concentrations in frogs.

    PubMed Central

    Sower, S A; Reed, K L; Babbitt, K J

    2000-01-01

    Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research. PMID:11102301

  9. Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse.

    PubMed

    Anaya, G; Molina, A; Valera, M; Moreno-Millán, M; Azor, P; Peral-García, P; Demyda-Peyrás, S

    2017-02-22

    Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool. All the microsatellites analyzed were highly polymorphic, with a sizeable number of alleles (polymorphic information content > 0.5). Based on this variability, the methodology showed 100% sensitivity and 99.82% specificity to detect the most important sex chromosomal abnormalities reported in horses (chimerism, Turner's syndrome and sex reversal syndromes). The method was also validated with 100% efficiency in 10 individuals previously diagnosed as chromosomally aberrant. This STR screening panel is an efficient and reliable molecular-cytogenetic tool for the early detection of sex chromosomal abnormalities in equines that could be included in breeding programs to save money, effort and time of veterinary practitioners and breeders.

  10. How Sex Attitudes Develop

    ERIC Educational Resources Information Center

    Arnstein, Helene S.

    1976-01-01

    Excerpt from "The Roots of Love" (Helene S. Arnstein, 1975). Book is concerned with feelings that are part of child's developmental stages. Included in excerpt are: genital self-discovery, masturbation, discovery of sex differences, and birth fantasies. Stresses importance of parent's feelings which are communicated to child.

  11. Developmental abnormalities of the gonad and abnormal sex hormone concentrations in juvenile alligators from contaminated and control lakes in Florida.

    PubMed Central

    Guillette, L J; Gross, T S; Masson, G R; Matter, J M; Percival, H F; Woodward, A R

    1994-01-01

    The reproductive development of alligators from a contaminated and a control lake in central Florida was examined. Lake Apopka is adjacent to an EPA Superfund site, listed due to an extensive spill of dicofol and DDT or its metabolites. These compounds can act as estrogens. Contaminants in the lake also have been derived from extensive agricultural activities around the lake that continue today and a sewage treatment facility associated with the city of Winter Garden, Florida. We examined the hypothesis that an estrogenic contaminant has caused the current failure in recruitment of alligators on Lake Apopka. Supporting data include the following: At 6 months of age, female alligators from Lake Apopka had plasma estradiol-17 beta concentrations almost two times greater than normal females from the control lake, Lake Woodruff. The Apopka females exhibited abnormal ovarian morphology with large numbers of polyovular follicles and polynuclear oocytes. Male juvenile alligators had significantly depressed plasma testosterone concentrations comparable to levels observed in normal Lake Woodruff females but more than three times lower than normal Lake Woodruff males. Additionally, males from Lake Apopka had poorly organized testes and abnormally small phalli. The differences between lakes and sexes in plasma hormone concentrations of juvenile alligators remain even after stimulation with luteinizing hormone. Our data suggest that the gonads of juveniles from Lake Apopka have been permanently modified in ovo, so that normal steroidogenesis is not possible, and thus normal sexual maturation is unlikely. Images p680-a Figure 1. Figure 2. Figure 3. A Figure 3. B Figure 3. C Figure 4. A Figure 4. B Figure 4. C Figure 4. D Figure 5. A Figure 5. B Figure 5. C PMID:7895709

  12. X Chromosome Abnormalities and Cognitive Development: Implications for Understanding Normal Human Development.

    ERIC Educational Resources Information Center

    Walzer, Stanley

    1985-01-01

    Argues that knowledge from studies of individuals with sex chromosome abnormalities can further understanding of aspects of normal human development. Studies of XO girls, XXY boys, XXX girls, and males with a fragile X chromosome are summarized to demonstrate how results contribute to knowledge about normal cognitive development and about…

  13. Age- and sex-dependent thymic abnormalities in NZB × SJL F1 hybrid mice

    PubMed Central

    Dumont, F.; Robert, F.

    1980-01-01

    The cellular organization of the thymus was investigated in 3- and 12-month-old NZB × SJL F1 hybrid (NS) mice. Age-dependent alterations were demonstrated which differed strikingly according to the sex of the animals. In female mice, marked abnormalities of the thymus developed during ageing. They consisted of a more or less pronounced hypertrophy accompanied by histological changes and modifications in the nature of the lymphocyte populations. Three types of qualitative changes were found at 12 months of age: (1) depletion of cortical thymocytes as evidenced by histology, by the evaluation of peanut-agglutinin (PNA) binding and by cell electrophoresis; (2) hyperplasia of the medullary lymphoid tissue, probably reflecting the expansion of a population of mature T lymphocytes. This was further suggested by a rise (up to 60%) in the frequency of lymphocytes lacking both PNA receptor and B cell markers, by an increased proportion (57%) of high electrophoretic mobility (EPM) lymphocytes and by an augmentation of in vitro reactivities to phytohaemagglutinin (PHA) and, although to a lesser extent, to concanavalin A (Con A). (3) The appearance of significant numbers of B lymphocytes (up to 20%) as assessed by surface immunoglobulin (sIg) and complement receptor (CR) detection which was accompanied by a vigorous responsiveness of thymus cells to lipopolysaccharide (LPS). None of these abnormalities was seen in the male mice. Instead, the thymus of NS males displayed a nearly normal age-related involution without major change in the proportions of its lymphocyte subpopulations. NS mice thus provide an interesting model of thymic disease influenced by sex-linked factors. ImagesFig. 3 PMID:7438550

  14. Gonadal and Sex Differentiation Abnormalities of Dogs and Cats

    PubMed Central

    Meyers-Wallen, V.N.

    2012-01-01

    The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although several types of DSD have been reported in the cat and dog, which are often strikingly similar to human DSD, these have been infrequently utilized to contribute to our knowledge of mammalian sexual development. Canine and feline cases of DSD with sufficient evidence to be considered as potential models are summarized in this report. The consensus DSD terminology, and reference to previous terminology, is used to foster adoption of a common nomenclature that will facilitate communication and collaboration between veterinarians, physicians, and researchers. To efficiently utilize these unique resources as molecular tools continue to improve, it will be helpful to deposit samples from valuable cases into repositories where they are available to contribute to our understanding of sexual development, and thus improve human and animal health. PMID:22005097

  15. Disorders of sex development: neonatal diagnosis and management.

    PubMed

    Paris, Françoise; Gaspari, Laura; Philibert, Pascal; Maïmoun, Laurent; Kalfa, Nicolas; Sultan, Charles

    2012-01-01

    The disorders of sex development (DSD) refer to the insufficient virilization of the external genitalia of a 46,XY fetus or the excessive virilization of those of the 46,XX fetus. Some of these disorders are associated with karyotype abnormalities. DSD arise from abnormal gonadal determination or sex differentiation, as in the case of the abnormal testosterone synthesis or androgen insensitivity of 46,XY DSD. The impact of environmental endocrine disrupting chemicals during fetal life requires further investigation. The basic investigations should include SRY gene sequencing and measurement of 17-hydroxyprogesterone, anti-Mullerian hormone, and testosterone. Choosing the sex of rearing is difficult and the decision must be made by an experienced multidisciplinary team.

  16. [Multiple sex drive abnormalities in a patient with Klinefelter's syndrome].

    PubMed

    Lahl, R; Thomas, B; Zernahle, K

    1977-03-01

    The authors report various sexual instinct disturbances and, more specifically, exhibitionism and pedophilia of a 25-year-old patient with Klinefelter's syndrome. The patient had committed several punishable offenses and was referred to our specialty clinic for psychologic and psychiatric examinations. Aspects of psychopathology and causal etiopathogenetic relationships of the authors' own observations are discussed and compared with those reported in the literature. Environmental factors are considered to be primarily responsible for the development of sexual perversions. The Klinefelter syndrome as such may be regarded as being of predispositional importance only.

  17. Disorders of sexual development and abnormal early development in domestic food-producing mammals: the role of chromosome abnormalities, environment and stress factors.

    PubMed

    Favetta, L A; Villagómez, D A F; Iannuzzi, L; Di Meo, G; Webb, A; Crain, S; King, W A

    2012-01-01

    The management of disorders of sexual development (DSD) in humans and domestic animals has been the subject of intense interest for decades. The association between abnormal chromosome constitutions and DSDs in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets and/or the coexistence of cells with different sex chromosome constitutions in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. In recent years, a growing interest has developed around the environmental insults, such as endocrine-disrupting compounds (EDC) and heat stressors, which affect fertility, early embryonic development and, in some instances, directly the sex ratio and/or the development of 1 specific sex versus the other. A variety of chemical compounds present in the environment at low doses has been shown to have major effects on the reproductive functions in human and domestic animals following prolonged exposure. In this review, we present an overview of congenital/chromosomal factors that are responsible for the DSDs and link them and the lack of proper embryonic development to environmental factors that are becoming a major global concern.

  18. Barriers to Follow-Up for Abnormal Papanicolaou Smears among Female Sex Workers in Lima, Peru

    PubMed Central

    Aharon, Devora; Calderon, Martha; Solari, Vicky; Alarcon, Patricia; Zunt, Joseph

    2017-01-01

    Background Cervical cancer is the most prevalent cancer among Peruvian women. Female sex workers (FSW) in Peru are at elevated risk for HPV infection, and receive annual Papanicolaou screening. The objective of this study was to identify barriers to follow-up for abnormal Pap smears among FSW in Peru. Methods 97 FSW attending the Alberto Barton Health Center in Lima were surveyed regarding their STI screening history. 17 women with a history of an abnormal Pap smear were interviewed about their experiences regarding follow-up care. Results Of the 27 HPV-positive women, only 8 (30%) received follow-up treatment. Of the 19 women who did not receive follow-up, 7 (37%) had not been informed of their abnormal result. Qualitative interviews revealed that the major barrier to follow-up was lack of knowledge about HPV and potential health consequences of an abnormal Pap smear. Conclusion HPV infection is highly prevalent in Peruvian FSW, yet only 30% of FSW with abnormal Pap smears receive follow-up care. The predominant barriers to follow-up were lack of standardization in recording and communicating results and insufficient FSW knowledge regarding health consequences of HPV infection. Standardization of record-keeping and distribution of educational pamphlets have been implemented to improve follow-up for HPV. PMID:28060937

  19. Update on the management of disorders of sex development.

    PubMed

    Romao, Rodrigo L P; Salle, Joao L Pippi; Wherrett, Diane K

    2012-08-01

    A number of factors have contributed to a sharp increase in the number of publications related to disorders of sex development (DSD) in the past 5 years, namely: the establishment of a consensus in 2006 about nomenclature, investigations and the need to treat these patients in a multidisciplinary setting; increase of the knowledge base about genetic mechanisms of normal and abnormal sex development; critical appraisal about the timing and nature of genital surgery in patients with DSD. Herein, the authors present a comprehensive review with up-to-date data about the approach to the newborn with ambiguous genitalia as well as the diagnosis and management of the most common DSD.

  20. Sex and the development of Alzheimer's disease.

    PubMed

    Pike, Christian J

    2017-01-02

    Men and women exhibit differences in the development and progression of Alzheimer's disease (AD). The factors underlying the sex differences in AD are not well understood. This Review emphasizes the contributions of sex steroid hormones to the relationship between sex and AD. In women, events that decrease lifetime exposure to estrogens are generally associated with increased AD risk, whereas estrogen-based hormone therapy administered near the time of menopause may reduce AD risk. In men, estrogens do not exhibit age-related reduction and are not significantly associated with AD risk. Rather, normal age-related depletions of testosterone in plasma and brain predict enhanced vulnerability to AD. Both estrogens and androgens exert numerous protective actions in the adult brain that increase neural functioning and resilience as well as specifically attenuating multiple aspects of AD-related neuropathology. Aging diminishes the activational effects of sex hormones in sex-specific manners, which is hypothesized to contribute to the relationship between aging and AD. Sex steroid hormones may also drive sex differences in AD through their organizational effects during developmental sexual differentiation of the brain. Specifically, sex hormone actions during early development may confer inherent vulnerability of the female brain to development of AD in advanced age. The combined effects of organizational and activational effects of sex steroids yield distinct sex differences in AD pathogenesis, a significant variable that must be more rigorously considered in future research. © 2016 Wiley Periodicals, Inc.

  1. Sex Differences in Intellectual and Ego Development.

    ERIC Educational Resources Information Center

    Alishio, Kip C.; Schilling, Karen Maitland

    Perry's scheme of intellectual and ethical development was examined for sex differences with respect to content areas for which sex differences have elsewhere been suggested: occupational choice, interpersonal relationships, and sexual identity. In addition, the content area religion and ego development, as measured by Loevinger's sentence…

  2. Gender identity/role differentiation in adolescents affected by syndromes of abnormal sex differentiation.

    PubMed

    Wisniewski, Amy B; Migeon, Claude J

    2002-02-01

    Adolescents with abnormal sexual differentiation or intersex conditions present a unique challenge to their healthcare providers. While sex refers to the biologic considerations that specify a person as male or female, gender refers to the sex of rearing. For the child with an intersex condition, sex may differ from gender, and as that child grows into adolescence, this may lead to many concerns, questions, and decisions. Although gender is usually fixed by adolescence, there will be those adolescents with intersex conditions wishing a gender reassignment during this period. Often a physician is the best resource for information and counsel to these young adults. Although most infants with ambiguous genitalia will have a karyotype done to determine gender identity, there are occasions when a gender discrepancy is not noticed until an adolescent presents with delayed pubarche. Regardless of the age at diagnosis, at adolescence, the physician must the address the medical consequences of infertility, bone health, and hormone replacement in addition to handling the heightened psychological concerns of gender identity during puberty. It is hoped that adolescents with intersex conditions will have the support and information necessary to allow them to live as normal a life as possible.

  3. Abnormal cingulum bundle development in autism: a probabilistic tractography study.

    PubMed

    Ikuta, Toshikazu; Shafritz, Keith M; Bregman, Joel; Peters, Bart D; Gruner, Patricia; Malhotra, Anil K; Szeszko, Philip R

    2014-01-30

    There is now considerable evidence that white matter abnormalities play a role in the neurobiology of autism. Little research has been directed, however, at understanding (a) typical white matter development in autism and how this relates to neurocognitive impairments observed in the disorder. In this study we used probabilistic tractography to identify the cingulum bundle in 21 adolescents and young adults with Autism Spectrum Disorder (ASD), and 21 age- and sex-matched healthy volunteers. We investigated group differences in the relationships between age and fractional anisotropy, a putative measure of white matter integrity, within the cingulum bundle. Moreover, in a preliminary investigation, we examined the relationship between cingulum fractional anisotropy and executive functioning using the Behavior Rating Inventory of Executive Function (BRIEF). The ASD participants demonstrated significantly lower fractional anisotropy within the cingulum bundle compared to the typically developing volunteers. There was a significant group-by-age interaction such that the ASD group did not show the typical age-associated increases in fractional anisotropy observed among healthy individuals. Moreover, lower fractional anisotropy within the cingulum bundle was associated with worse BRIEF behavioral regulation index scores in the ASD group. The current findings implicate a dysregulation in cingulum bundle white matter development occurring in late adolescence and early adulthood in ASD, and suggest that greater disturbances in this trajectory are associated with executive dysfunction in ASD.

  4. Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study.

    PubMed

    Swerdlow, A J; Hermon, C; Jacobs, P A; Alberman, E; Beral, V; Daker, M; Fordyce, A; Youings, S

    2001-03-01

    Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959-90, and were compared with expectations from national rates. Four hundred patients with Turner's syndrome were followed, of whom 62 died, with a relative risk (RR) of death of 4.16 (95% confidence interval (CI) 3.22-5.39). Turner's syndrome patients had greatly raised risks of death from diseases of the nervous, cardiovascular, respiratory, digestive and genitourinary systems. One hundred and sixty three deaths occurred among 646 patients with Klinefelter's syndrome with a 47,XXY constitution, giving an RR of 1.63 (1.40-1.91). Mortality in these patients was significantly raised from diabetes and diseases of the cardiovascular, respiratory and digestive systems. There was also significantly increased mortality for patients with X polysomy (RR = 2.11 (1.43-3.02)) and Y polysomy (RR = 1.90 (1.20-2.85)), the former with significantly increased mortality from cardiovascular disease and the latter from respiratory disease. The only significantly raised risks of cancer incidence or mortality in the cohort were for lung cancer and breast cancer in patients with Klinefelter's syndrome with a 47,XXY constitution, and non-Hodgkin's lymphoma in men with more than three sex chromosomes.

  5. Human papillomavirus prevalence, cervical abnormalities and risk factors among female sex workers in Lima, Peru

    PubMed Central

    Brown, B; Blas, M M; Cabral, A; Byraiah, G; Guerra-Giraldez, C; Sarabia-Vega, V; Carcamo, C; Gravitt, P E; Halsey, N A

    2015-01-01

    Summary Female sex workers (FSWs) are at high risk of human papillomavirus (HPV) infection. Questionnaires were administered to 200 FSWs aged 18–26 years in Lima, Peru, to gather risk behaviours, and cervical swab samples were collected for Pap smears and HPV DNA testing as part of a longitudinal study. Participants reported a median of 120 clients in the past month, and 99.2% reported using condoms with clients. The prevalence of any HPV in cervical samples was 66.8%; 34 (17.1%) participants had prevalent HPV 16 or 18, and 92 (46.2%) had one or more oncogenic types. Fifteen women had abnormal Pap smears, 13 of which were HPV DNA positive. Fewer years since first sex was associated with oncogenic HPV prevalence in a model adjusted for previous sexually transmitted infection (STI) status and condom use with partners (prevalence ratio = 0.77, 95% confidence interval [CI] = 0.60–0.97). Our data confirm the high rates of HPV transmission among FSWs in Peru, highlighting the need for early and effective strategies to prevent cervical cancer. PMID:22581946

  6. Human papillomavirus prevalence, cervical abnormalities and risk factors among female sex workers in Lima, Peru.

    PubMed

    Brown, B; Blas, M M; Cabral, A; Byraiah, G; Guerra-Giraldez, C; Sarabia-Vega, V; Carcamo, C; Gravitt, P E; Halsey, N A

    2012-04-01

    Female sex workers (FSWs) are at high risk of human papillomavirus (HPV) infection. Questionnaires were administered to 200 FSWs aged 18-26 years in Lima, Peru, to gather risk behaviours, and cervical swab samples were collected for Pap smears and HPV DNA testing as part of a longitudinal study. Participants reported a median of 120 clients in the past month, and 99.2% reported using condoms with clients. The prevalence of any HPV in cervical samples was 66.8%; 34 (17.1%) participants had prevalent HPV 16 or 18, and 92 (46.2%) had one or more oncogenic types. Fifteen women had abnormal Pap smears, 13 of which were HPV DNA positive. Fewer years since first sex was associated with oncogenic HPV prevalence in a model adjusted for previous sexually transmitted infection (STI) status and condom use with partners (prevalence ratio = 0.77, 95% confidence interval [CI] = 0.60-0.97). Our data confirm the high rates of HPV transmission among FSWs in Peru, highlighting the need for early and effective strategies to prevent cervical cancer.

  7. Genetics Home Reference: 46,XX testicular disorder of sex development

    MedlinePlus

    ... of sex development 46,XX testicular disorder of sex development Enable Javascript to view the expand/collapse ... Close All Description 46,XX testicular disorder of sex development is a condition in which individuals with ...

  8. [Therapeutic problems in disorders of sex development].

    PubMed

    Bajszczak, Katarzyna; Słowikowska-Hilczer, Jolanta

    2016-01-01

    The compatibility between genetic, gonadal, genital, somatic and psychic sex should be present for the proper sexual development. If there is no such compatibility, disorders of sex development (DSD) appear. Medical procedure in such cases leads to many problems which mainly come from the lack of sufficient knowledge about the pathophysiology of the disorders. The main difficulties met by diagnostic and therapeutic team are: determination of the official sex, prediction of gender identity, hormonal activity of gonads and fertility, as well as the decision to undertake surgical procedures involving the genitals and gonads. Disorders of sex development lead also to psychological problems of patients and their families, because they disturb the proper social functioning.

  9. Sex ratio of congenital abnormalities in the function of maternal age: a population-based study.

    PubMed

    Csermely, Gyula; Urbán, Robert; Czeizel, Andrew E; Veszprémi, Béla

    2015-05-01

    Maternal age effect is well-known in the origin of numerical chromosomal aberrations and some isolated congenital abnormalities (CAs). The sex ratio (SR), i.e. number of males divided by the number of males and females together, of most CAs deviates from the SR of newborn population (0.51). The objective of this analysis was to evaluate the possible association of maternal age with the SR of isolated CAs in a population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. First, SR of 24 CA entities/groups was estimated in 21,494 patients with isolated CA. In the next step SR of different maternal age groups was compared to the mean SR of the given CA-groups. The SR of four CA-groups showed some deviation in certain maternal age groups. Cases with anencephaly had female excess in young mothers (<25 years). Cases with skull's CAs particularly craniosynostosis had a male excess in cases born to women over 30 years. Two other CA groups (cleft lip ± palate and valvar pulmonic stenosis within the group of right-sided obstructive defect of heart) had significant deviation in SR of certain maternal age groups from the mean SR, but these deviations were not harmonized with joining age groups and thus were considered as a chance effect due to multiple testing. In conclusion, our study did not suggest that in general SR of isolated CAs might be modified by certain maternal age groups with some exception such as anencephaly and craniosynostosis.

  10. Gross Motor Development, Movement Abnormalities, and Early Identification of Autism

    PubMed Central

    Young, Gregory S.; Goldring, Stacy; Greiss-Hess, Laura; Herrera, Adriana M.; Steele, Joel; Macari, Suzanne; Hepburn, Susan; Rogers, Sally J.

    2015-01-01

    Gross motor development (supine, prone, rolling, sitting, crawling, walking) and movement abnormalities were examined in the home videos of infants later diagnosed with autism (regression and no regression subgroups), developmental delays (DD), or typical development. Group differences in maturity were found for walking, prone, and supine, with the DD and Autism-No Regression groups both showing later developing motor maturity than typical children. The only statistically significant differences in movement abnormalities were in the DD group; the two autism groups did not differ from the typical group in rates of movement abnormalities or lack of protective responses. These findings do not replicate previous investigations suggesting that early motor abnormalities seen on home video can assist in early identification of autism. PMID:17805956

  11. The surgical challenges of disorders of sex development (DSD).

    PubMed

    Gorduza, Daniela; Vidal, Isabelle; Birraux, Jacques; Gay, Claire-Lise; Demède, Delphine; Mure, Pierre-Yves; Mouriquand, Pierre

    2010-09-01

    Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal genitalia. The main current techniques of masculinization and feminization are reviewed with their progress and their problems. The tools of decision used to assign a gender in some newborns with complex DSD are discussed showing that at the dawn of the third millenium, one still does not know why a boy is a boy, and a girl is a girl.

  12. Anal cytological abnormalities and epidemiological correlates among men who have sex with men at risk for HIV-1 infection

    PubMed Central

    2012-01-01

    Background The incidence of anal cancer, a Human Papillomavirus (HPV)-related neoplasia, has been increasing in recent decades, mainly in men who have sex with men (MSM). Cytological changes of the anal epithelium induced by HPV can be detected through an anal pap smear. This study aimed to evaluate the prevalence and epidemiological correlates of anal cytological abnormalities among relatively young MSM at risk for HIV-1 infection, to help clarify whether or not this population deserves further investigation to assess the presence of anal cancer precursor lesions. Methods MSM were recruited among attendees of a large STI clinic for a HIV-1 screening program. Anal samples, collected with a Dracon swab in PreservCyt, were used both for liquid-based cytology and HPV testing by the Linear Array HPV Genotyping Test. Data regarding socio-demographic characteristics and sexual behavior were collected in face-to-face interviews. Results A total of 346 MSM were recruited (median age 32 years). Overall, 72.5% of the individuals had an anal HPV infection, with 56.1% of them being infected by oncogenic HPV genotypes. Anal cytological abnormalities were found in 29.8% of the cases (16.7% ASC-US and 13.1% L-SIL). Presence of ASC-US+ was strongly associated with infection by any HPV type (OR=4.21, 95% CI: 1.97-9.23), and particularly by HPV 16 and/or 18 (OR=5.62, 95% CI: 2.33-13.81). A higher proportion of ASC-US+ was found in older MSM, in those with a higher number of lifetime partners and in those with a history of ano-genital warts. However, none of these variables or the others analyzed showed any significant association with abnormal cytological findings. Conclusions The presence of anal cytological abnormalities in about one third of the recruited MSM and their strong association with HPV infection, in particular that caused by HPV 16 and/or 18, might provide a further complement to the data that now support the introduction of HPV vaccination among MSM to protect them

  13. Abnormalities occurring during female gametophyte development result in the diversity of abnormal embryo sacs and leads to abnormal fertilization in indica/japonica hybrids in rice.

    PubMed

    Zeng, Yu-Xiang; Hu, Chao-Yue; Lu, Yong-Gen; Li, Jin-Quan; Liu, Xiang-Dong

    2009-01-01

    Embryo sac abortion is one of the major reasons for sterility in indica/japonica hybrids in rice. To clarify the causal mechanism of embryo sac abortion, we studied the female gametophyte development in two indica/japonica hybrids via an eosin B staining procedure for embryo sac scanning using confocal laser scanning microscope. Different types of abnormalities occurred during megasporogenesis and megagametogenesis were demonstrated. The earliest abnormality was observed in the megasporocyte. A lot of the chalazal-most megaspores were degenerated before the mono-nucleate embryo sac stage. Disordered positioning of nucleus and abnormal nucellus tissue were characteristics of the abnormal female gametes from the mono-nucleate to four-nucleate embryo sac stages. The abnormalities that occurred from the early stage of the eight-nucleate embryo sac development to the mature embryo sac stage were characterized by smaller sizes and wrinkled antipodals. Asynchronous nuclear migration, abnormal positioning of nucleus, and degeneration of egg apparatus were also found at the eight-nucleate embryo sac stage. The abnormalities that occurred during female gametophyte development resulted in five major types of abnormal embryo sacs. These abnormal embryo sacs led to abnormal fertilization. Hand pollination using normal pollens on the spikelets during anthesis showed that normal pollens could not exclude the effect of abnormal embryo sac on seed setting.

  14. Moral Development of Solo Juvenile Sex Offenders

    ERIC Educational Resources Information Center

    Van Vugt, Eveline; Stams, Geert Jan; Dekovic, Maja; Brugman, Daan; Rutten, Esther; Hendriks, Jan

    2008-01-01

    This study compared the moral development of solo juvenile male sex offenders (n = 20) and juvenile male non-offenders (n = 76), aged 13-19 years, from lower socioeconomic and educational backgrounds. The Moral Orientation Measure (MOM) was used to assess punishment- and victim-based moral orientation in sexual and non-sexual situations. Moral…

  15. Gross Motor Development, Movement Abnormalities, and Early Identification of Autism

    ERIC Educational Resources Information Center

    Ozonoff, Sally; Young, Gregory S.; Goldring, Stacy; Greiss-Hess, Laura; Herrera, Adriana M.; Steele, Joel; Macari, Suzanne; Hepburn, Susan; Rogers, Sally J.

    2008-01-01

    Gross motor development (supine, prone, rolling, sitting, crawling, walking) and movement abnormalities were examined in the home videos of infants later diagnosed with autism (regression and no regression subgroups), developmental delays (DD), or typical development. Group differences in maturity were found for walking, prone, and supine, with…

  16. Management of disorders of sex development.

    PubMed

    Hiort, Olaf; Birnbaum, Wiebke; Marshall, Louise; Wünsch, Lutz; Werner, Ralf; Schröder, Tatjana; Döhnert, Ulla; Holterhus, Paul-Martin

    2014-09-01

    The medical term disorders of sex development (DSDs) is used to describe individuals with an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to differences in the development of the urogenital tract and reproductive system. A variety of genetic factors have been identified that affect sex development during gonadal differentiation or in specific disorders associated with altered androgen biosynthesis or action. The diagnosis of DSDs in individuals and the subsequent management of patients and their families requires a targeted and structured approach, involving a multidisciplinary team with effective communication between the disciplines. This approach includes distinct clinical, imaging, laboratory and genetic evaluations of patients with DSDs. Although treatment of patients with DSDs can include endocrine and surgical options, many patients have concerns that arise from past incorrect treatments that were founded on the traditional binary concept of the sexes. To dispel these concerns, it is necessary to create centres of expertise for DSDs that include physicians, surgeons, psychologists and specialists in diagnostic procedures to manage patients and their families. Additionally, the inclusion of trained peer support in the multidisciplinary DSD team seems to be integral to the supportive management of patients with DSDs. Most importantly, dealing with DSDs requires acceptance of the fact that deviation from the traditional definitions of gender is not necessarily pathologic.

  17. The roles of Dmrt (Double sex/Male-abnormal-3 Related Transcription factor) genes in sex determination and differentiation mechanisms: Ubiquity and diversity across the animal kingdom.

    PubMed

    Picard, Marion Anne-Lise; Cosseau, Céline; Mouahid, Gabriel; Duval, David; Grunau, Christoph; Toulza, Ève; Allienne, Jean-François; Boissier, Jérôme

    2015-07-01

    The Dmrt (Double sex/Male-abnormal-3 Related Transcription factor) genes have been intensively studied because they represent major transcription factors in the pathways governing sex determination and differentiation. These genes have been identified in animal groups ranging from cnidarians to mammals, and some of the genes functionally studied. Here, we propose to analyze (i) the presence/absence of various Dmrt gene groups in the different taxa across the animal kingdom; (ii) the relative expression levels of the Dmrt genes in each sex; (iii) the specific spatial (by organ) and temporal (by developmental stage) variations in gene expression. This review considers non-mammalian animals at all levels of study (i.e. no particular importance is given to animal models), and using all types of sexual strategy (hermaphroditic or gonochoric) and means of sex determination (i.e. genetic or environmental). To conclude this global comparison, we offer an analysis of the DM domains conserved among the different DMRT proteins, and propose a general sex-specific pattern for each member of the Dmrt gene family.

  18. Prenatal management of disorders of sex development.

    PubMed

    Chitty, Lyn S; Chatelain, Pierre; Wolffenbuttel, Katja P; Aigrain, Yves

    2012-12-01

    Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues. In this brief review, we present an overview of the prenatal presentation and management of DSD, including the sonographic appearance of normal genitalia and methods of determining genetic sex, the prenatal management of pregnancies with the unexpected finding of genital ambiguity on prenatal ultrasound and a review of the prenatal management of pregnancies at high risk of DSD. As this is a rapidly developing field, management options will change over time, making the involvement of clinical geneticists, paediatric endocrinologists and urologists, as well as fetal medicine specialists, essential in the care of these complex pregnancies. The reader should also bear in mind that local social, ethical and legal aspects may also influence management.

  19. Review and management of 46,XY disorders of sex development.

    PubMed

    Massanyi, Eric Z; Dicarlo, Heather N; Migeon, Claude J; Gearhart, John P

    2013-06-01

    Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization during development. Phenotypic appearance and timing of presentation are quite variable. The focus of treatment has shifted from early gender assignment and corrective surgery to careful diagnosis, proper education of patients and their families, and individualized treatment by a multi-disciplinary team. The modern management of these patients is difficult and controversial. Conflicting data on long-term outcomes of these individuals have been reported in the literature. The various etiologies of 46,XY DSD, current approaches to diagnosis and treatment, and reported long-term results are reviewed.

  20. Pulmonary vascular development goes awry in congenital lung abnormalities.

    PubMed

    Kool, Heleen; Mous, Daphne; Tibboel, Dick; de Klein, Annelies; Rottier, Robbert J

    2014-12-01

    Pulmonary vascular diseases of the newborn comprise a wide range of pathological conditions with developmental abnormalities in the pulmonary vasculature. Clinically, pulmonary arterial hypertension (PH) is characterized by persistent increased resistance of the vasculature and abnormal vascular response. The classification of PH is primarily based on clinical parameters instead of morphology and distinguishes five groups of PH. Congenital lung anomalies, such as alveolar capillary dysplasia (ACD) and PH associated with congenital diaphragmatic hernia (CDH), but also bronchopulmonary dysplasia (BPD), are classified in group three. Clearly, tight and correct regulation of pulmonary vascular development is crucial for normal lung development. Human and animal model systems have increased our knowledge and make it possible to identify and characterize affected pathways and study pivotal genes. Understanding of the normal development of the pulmonary vasculature will give new insights in the origin of the spectrum of rare diseases, such as CDH, ACD, and BPD, which render a significant clinical problem in neonatal intensive care units around the world. In this review, we describe normal pulmonary vascular development, and focus on four diseases of the newborn in which abnormal pulmonary vascular development play a critical role in morbidity and mortality. In the future perspective, we indicate the lines of research that seem to be very promising for elucidating the molecular pathways involved in the origin of congenital pulmonary vascular disease.

  1. Abnormal retinal development associated with FRMD7 mutations

    PubMed Central

    Thomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Araki, Masasuke; Leroy, Bart P.; McLean, Rebecca J.; Sheth, Viral; Maconachie, Gail; Thomas, Shery; Moore, Anthony T.; Gottlob, Irene

    2014-01-01

    Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder, often associated with FRMD7 mutations. As the appearance of the retina is reported to be normal based on conventional fundus photography, IIN is postulated to arise from abnormal cortical development. To determine whether the afferent visual system is involved in FRMD7 mutations, we performed in situ hybridization studies in human embryonic and fetal stages (35 days post-ovulation to 9 weeks post-conception). We show a dynamic retinal expression pattern of FRMD7 during development. We observe expression within the outer neuroblastic layer, then in the inner neuroblastic layer and at 9 weeks post-conception a bilaminar expression pattern. Expression was also noted within the developing optic stalk and optic disk. We identified a large cohort of IIN patients (n = 100), and performed sequence analysis which revealed 45 patients with FRMD7 mutations. Patients with FRMD7 mutations underwent detailed retinal imaging studies using ultrahigh-resolution optical coherence tomography. The tomograms were compared with a control cohort (n = 60). The foveal pit was significantly shallower in FRMD7 patients (P < 0.0001). The optic nerve head morphology was abnormal with significantly decreased optic disk area, retinal nerve fiber layer thickness, cup area and cup depth in FRMD7 patients (P < 0.0001). This study shows for the first time that abnormal afferent system development is associated with FRMD7 mutations and could be an important etiological factor in the development of nystagmus. PMID:24688117

  2. Abnormal retinal development associated with FRMD7 mutations.

    PubMed

    Thomas, Mervyn G; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Araki, Masasuke; Leroy, Bart P; McLean, Rebecca J; Sheth, Viral; Maconachie, Gail; Thomas, Shery; Moore, Anthony T; Gottlob, Irene

    2014-08-01

    Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder, often associated with FRMD7 mutations. As the appearance of the retina is reported to be normal based on conventional fundus photography, IIN is postulated to arise from abnormal cortical development. To determine whether the afferent visual system is involved in FRMD7 mutations, we performed in situ hybridization studies in human embryonic and fetal stages (35 days post-ovulation to 9 weeks post-conception). We show a dynamic retinal expression pattern of FRMD7 during development. We observe expression within the outer neuroblastic layer, then in the inner neuroblastic layer and at 9 weeks post-conception a bilaminar expression pattern. Expression was also noted within the developing optic stalk and optic disk. We identified a large cohort of IIN patients (n = 100), and performed sequence analysis which revealed 45 patients with FRMD7 mutations. Patients with FRMD7 mutations underwent detailed retinal imaging studies using ultrahigh-resolution optical coherence tomography. The tomograms were compared with a control cohort (n = 60). The foveal pit was significantly shallower in FRMD7 patients (P < 0.0001). The optic nerve head morphology was abnormal with significantly decreased optic disk area, retinal nerve fiber layer thickness, cup area and cup depth in FRMD7 patients (P < 0.0001). This study shows for the first time that abnormal afferent system development is associated with FRMD7 mutations and could be an important etiological factor in the development of nystagmus.

  3. Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.

    PubMed

    Kahr, Walter H A; Lo, Richard W; Li, Ling; Pluthero, Fred G; Christensen, Hilary; Ni, Ran; Vaezzadeh, Nima; Hawkins, Cynthia E; Weyrich, Andrew S; Di Paola, Jorge; Landolt-Marticorena, Carolina; Gross, Peter L

    2013-11-07

    Gray platelet syndrome (GPS) is an inherited bleeding disorder associated with macrothrombocytopenia and α-granule-deficient platelets. GPS has been linked to loss of function mutations in NEABL2 (neurobeachin-like 2), and we describe here a murine GPS model, the Nbeal2(-/-) mouse. As in GPS, Nbeal2(-/-) mice exhibit splenomegaly, macrothrombocytopenia, and a deficiency of platelet α-granules and their cargo, including von Willebrand factor (VWF), thrombospondin-1, and platelet factor 4. The platelet α-granule membrane protein P-selectin is expressed at 48% of wild-type levels and externalized upon platelet activation. The presence of P-selectin and normal levels of VPS33B and VPS16B in Nbeal2(-/-) platelets suggests that NBEAL2 acts independently of VPS33B/VPS16B at a later stage of α-granule biogenesis. Impaired Nbeal2(-/-) platelet function was shown by flow cytometry, platelet aggregometry, bleeding assays, and intravital imaging of laser-induced arterial thrombus formation. Microscopic analysis detected marked abnormalities in Nbeal2(-/-) bone marrow megakaryocytes, which when cultured showed delayed maturation, decreased survival, decreased ploidy, and developmental abnormalities, including abnormal extracellular distribution of VWF. Our results confirm that α-granule secretion plays a significant role in platelet function, and they also indicate that abnormal α-granule formation in Nbeal2(-/-) mice has deleterious effects on megakaryocyte survival, development, and platelet production.

  4. Increased sex chromosome expression and epigenetic abnormalities in spermatids from male mice with Y chromosome deletions.

    PubMed

    Reynard, Louise N; Turner, James M A

    2009-11-15

    During male meiosis, the X and Y chromosomes are transcriptionally silenced, a process termed meiotic sex chromosome inactivation (MSCI). Recent studies have shown that the sex chromosomes remain substantially transcriptionally repressed after meiosis in round spermatids, but the mechanisms involved in this later repression are poorly understood. Mice with deletions of the Y chromosome long arm (MSYq-) have increased spermatid expression of multicopy X and Y genes, and so represent a model for studying post-meiotic sex chromosome repression. Here, we show that the increase in sex chromosome transcription in spermatids from MSYq- mice affects not only multicopy but also single-copy XY genes, as well as an X-linked reporter gene. This increase in transcription is accompanied by specific changes in the sex chromosome histone code, including almost complete loss of H4K8Ac and reduction of H3K9me3 and CBX1. Together, these data show that an MSYq gene regulates sex chromosome gene expression as well as chromatin remodelling in spermatids.

  5. Consanguinity and disorders of sex development.

    PubMed

    Bashamboo, Anu; McElreavey, Ken

    2014-01-01

    Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births. There are indications that the prevalence of DSD is higher in endogamous communities. The incidence of ambiguous genitalia in Saudi Arabia has been estimated at 1:2,500 live births; whilst in Egypt, it has been estimated at 1:3,000 live births. This may be due in part to an increase in disorders of androgen synthesis associated with 46,XX DSD. There is clearly a need for further studies to address the frequency of DSD in communities with high levels of consanguinity. This will be challenging, as an accurate diagnosis is difficult and expensive even in specialized centres. In developing countries with high levels of consanguinity, these limitations can be compounded by cultural, social and religious factors. Overall there is an indication that consanguinity may lead to an increase in incidences of both 46,XY and 46,XX DSD, and a co-ordinated study of populations with higher incidences of consanguinity/endogamy is needed to resolve this.

  6. Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis.

    PubMed

    Moshiri, Mariam; Chapman, Teresa; Fechner, Patricia Y; Dubinsky, Theodore J; Shnorhavorian, Margarett; Osman, Sherif; Bhargava, Puneet; Katz, Douglas S

    2012-10-01

    Various disorders of sex development (DSD) result in abnormal development of genitalia, which may be recognized at prenatal ultrasonography, immediately after birth, or later in life. Current methods for diagnosing DSD include a thorough physical examination, laboratory tests to determine hormone levels and identify chromosomal abnormalities, and radiologic imaging of the genitourinary tract and adjacent organs. Because of the complex nature of DSD, the participation of a multidisciplinary team is required to address the patient's medical needs as well as any psychosocial issues that the patient or the family may encounter after the diagnosis. The first step in the management of DSD is sex assignment, which is based on factors such as the genotype; the presence, location, and appearance of reproductive organs; the potential for fertility; and the cultural background and beliefs of the patient's family. The primary goal of sex assignment is to achieve the greatest possible consistency between the patient's assigned sex and his or her gender identity. Once the sex is assigned, the next step in management might be surgery, hormone therapy, or no intervention at all. Patients with ovotesticular DSD and gonadal dysgenesis may require a gonadectomy, followed by reconstructive surgery. Some patients may need hormone replacement therapy during puberty. An understanding of the immediacy of families' need for sex assignment and clinicians' need for reliable diagnostic imaging results will help radiologists participate effectively in the prenatal and postnatal assessment of patients with DSD.

  7. Emotion processes in normal and abnormal development and preventive intervention.

    PubMed

    Izard, Carroll E; Fine, Sarah; Mostow, Allison; Trentacosta, Christopher; Campbell, Jan

    2002-01-01

    We present an analysis of the role of emotions in normal and abnormal development and preventive intervention. The conceptual framework stems from three tenets of differential emotions theory (DET). These principles concern the constructs of emotion utilization; intersystem connections among modular emotion systems, cognition, and action; and the organizational and motivational functions of discrete emotions. Particular emotions and patterns of emotions function differentially in different periods of development and in influencing the cognition and behavior associated with different forms of psychopathology. Established prevention programs have not emphasized the concept of emotion as motivation. It is even more critical that they have generally neglected the idea of modulating emotions, not simply to achieve self-regulation, but also to utilize their inherently adaptive functions as a means of facilitating the development of social competence and preventing psychopathology. The paper includes a brief description of a theory-based prevention program and suggestions for complementary targeted interventions to address specific externalizing and internalizing problems. In the final section, we describe ways in which emotion-centered preventions can provide excellent opportunities for research on the development of normal and abnormal behavior.

  8. Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

    PubMed Central

    2011-01-01

    Background Monosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found. This report is to describe the cytogenetic characteristics of 45,X individuals. To the best of our knowledge, there were no large series of 45,X cases has been reported from Indonesia. Results Ninety five cases with 45,X cell line found, of which 60 were detected by karyotyping, 4 by FISH for sex chromosomes, and 31 by both karyotyping and FISH. Using karyotyping 37 out of 91 cases(40.6%) were identified as 45,X individuals, while cases who underwent FISH only 4 out of 35 cases (11.4%) showed 45,X result, resulting in total of 39 45,X cases (41.1%), and the rest 56 (58.9%) cases are mosaic. Among these cases, 21 out of 95 (22.1%) have Y or part of Y as the second or third sex chromosome in their additional cell lines. Result discrepancies revealed in 22 out of 31 cases who underwent both FISH and karyotyping, of which 7 showed normal 46,XX or 46,XY karyotypes, but by FISH, additional monosomy × cell line was found. Most of the cases were referred at the age of puberty (8-13 years old) or after that (14-18 years old), 31 and 21 cases respectively, and there were 14 cases were sent in adulthood. Conclusion Wide variations of sex chromosome aberrations have been detected using the combination of conventional cytogenetic and FISH, including detection of low level of mosaicism and Y-chromosome fragments. Result discrepancies using both techniques were found in 22/31 cases, and in order to obtain a more details of sex chromosome constitution of individuals with 45,X cell line both FISH and karyotyping should be carried out simultaneously. PMID:21992692

  9. Sex-specific development of cortical monoamine levels in mouse.

    PubMed

    Connell, Shelley; Karikari, Collins; Hohmann, Christine F

    2004-07-19

    Several mental health disorders exhibit sex differences in monoamine levels associated with dimorphic cortical ontogeny. Studies in rodents support the notion that monoamines can profoundly modulate morphogenesis. Here, we show significant sex and hemisphere differences in BALB/cByJ mice on postnatal day 3 for dopamine (DA) and serotonin (5-TH), supporting the notion that sex differences in early monoaminergic ontogeny may result in dimorphic cortical development. Such sex differences may also influence differential behavioral and/or clinical outcomes.

  10. The Phenomenology of Delusions in a Patient with Disorders of Sex Development

    PubMed Central

    GÖĞCEGÖZ GÜL, Işıl; HIZLI SAYAR, Gökben; ÖZTEN, Eylem; ERYILMAZ, Gül

    2015-01-01

    Abnormal development of the external and internal genital organs and male pseudohermaphrodite-type disorders of sex development is one of the conditions that creates problem in determination of gender. In this case report, our aim is to discuss how disorders with psychotic symptoms may affect different cultural life styles, circumstances, experience, delusion contents of identification and acceptance in a patient diagnosed with bipolar affective disorder, and with male-pseudohermaphroditism during adulthood.

  11. Dopamine D3 receptor knockout mice exhibit abnormal nociception in a sex-different manner.

    PubMed

    Liu, Peng; Xing, Bo; Chu, Zheng; Liu, Fei; Lei, Gang; Zhu, Li; Gao, Ya; Chen, Teng; Dang, Yong-Hui

    2016-09-26

    Pain is a complex and subjective experience. Previous studies have shown that mice lacking the dopamine D3 receptor (D3RKO) exhibit hypoalgesia, indicating a role of the D3 receptor in modulation of nociception. Given that there are sex differences in pain perception, there may be differences in responses to nociceptive stimuli between male and female D3RKO mice. In the current study, we examined the role of the D3 receptor in modulating nociception in male and female D3RKO mice. Acute thermal pain was modeled by hot-plate test. This test was performed at different temperatures including 52°C, 55°C, and 58°C. The von Frey hair test was applied to evaluate mechanical pain. And persistent pain produced by peripheral tissue injury and inflammation was modeled by formalin test. In the hot-plate test, compared with wild-type (WT) mice, D3RKO mice generally exhibited longer latencies at each of the three temperatures. Specially, male D3RKO mice showed hypoalgesia compared with male WT mice when the temperature was 55°C, while for the female mice, there was a statistical difference between genotypes when the test condition was 52°C. In the von Frey hair test, both male and female D3RKO mice exhibited hypoalgesia. In the formalin test, the male D3RKO mice displayed a similar nociceptive behavior as their sex-matched WT littermates, whereas significantly depressed late-phase formalin-induced nociceptive behaviors were observed in the female mutants. These findings indicated that the D3 receptor affects nociceptive behaviors in a sex-specific manner and that its absence induces more analgesic behavior in the female knockout mice. © 2016 Wiley Periodicals, Inc.

  12. Malignancy in disorders of sex development.

    PubMed

    Kathrins, Martin; Kolon, Thomas F

    2016-10-01

    Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500-5,000 live births. The diagnosis of DSD raises concerns of tumor risk and treatment as well as future fertility preservation. We review the current understanding of the types of gonadal tumors that arise in DSD patients as well as possible markers and treatment. The goal is to inform the members of the DSD team (urologist, endocrinologist, geneticist, psychologist) of the latest findings regarding malignancy in DSD. PubMed(®) and Google Scholar(TM) literature searches were performed of current and past peer-reviewed literature on DSD (intersex) regarding gonadal development and tumor formation/treatment. Relevant reviews and original research articles were examined, including cited references, and a synopsis of the data was generated. DSD patients are at increased risk for the development of testicular carcinoma in-situ (CIS) and germ cell tumors (GCT), including seminoma, non-seminoma, juvenile granulosa cell, gonadoblastoma, and dysgerminoma. Cancer risk factors include Y-chromosomal material and gonadal position, especially for streak gonads. The 46 XX DSD patients [congenital adrenal hyperplasia (CAH)] with no genetic Y-chromosomal material are not at higher risk of cancer. Post-pubertal complete androgen insensitivity syndrome (AIS) patients remain prone to tumor development if the testes remain in the abdomen. Estimates of the risk of GCT in partial AIS for untreated undescended testes may be as high as 50%. The cancer risk of scrotal testes in partial AIS is unknown. CIS occurs almost exclusively in patients with hypovirilization, most notably in AIS. Persistent Mullerian Duct Syndrome (PMDS) confers the usual cancer risk associated with cryptorchidism, but also a possible tumor risk of the Mullerian remnant. Several markers are under investigation for tumor evaluation in the DSD population beyond hCG and

  13. Malignancy in disorders of sex development

    PubMed Central

    Kathrins, Martin

    2016-01-01

    Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500–5,000 live births. The diagnosis of DSD raises concerns of tumor risk and treatment as well as future fertility preservation. We review the current understanding of the types of gonadal tumors that arise in DSD patients as well as possible markers and treatment. The goal is to inform the members of the DSD team (urologist, endocrinologist, geneticist, psychologist) of the latest findings regarding malignancy in DSD. PubMed® and Google ScholarTM literature searches were performed of current and past peer-reviewed literature on DSD (intersex) regarding gonadal development and tumor formation/treatment. Relevant reviews and original research articles were examined, including cited references, and a synopsis of the data was generated. DSD patients are at increased risk for the development of testicular carcinoma in-situ (CIS) and germ cell tumors (GCT), including seminoma, non-seminoma, juvenile granulosa cell, gonadoblastoma, and dysgerminoma. Cancer risk factors include Y-chromosomal material and gonadal position, especially for streak gonads. The 46 XX DSD patients [congenital adrenal hyperplasia (CAH)] with no genetic Y-chromosomal material are not at higher risk of cancer. Post-pubertal complete androgen insensitivity syndrome (AIS) patients remain prone to tumor development if the testes remain in the abdomen. Estimates of the risk of GCT in partial AIS for untreated undescended testes may be as high as 50%. The cancer risk of scrotal testes in partial AIS is unknown. CIS occurs almost exclusively in patients with hypovirilization, most notably in AIS. Persistent Mullerian Duct Syndrome (PMDS) confers the usual cancer risk associated with cryptorchidism, but also a possible tumor risk of the Mullerian remnant. Several markers are under investigation for tumor evaluation in the DSD population beyond hCG and AFP

  14. CHRONIC PERCHLORATE EXPOSURE CAUSES MORPHOLOGICAL ABNORMALITIES IN DEVELOPING STICKLEBACK

    PubMed Central

    Bernhardt, Richard R.; Von Hippel, Frank A.; O’Hara, Todd M.

    2011-01-01

    Few studies have examined the effects of chronic perchlorate exposure during growth and development, and fewer still have analyzed the effects of perchlorate over multiple generations. We describe morphological and developmental characteristics for threespine stickleback (Gasterosteus aculeatus) that were spawned and raised to sexual maturity in perchlorate-treated water (G1,2003) and for their offspring (G2,2004) that were not directly treated with perchlorate. The G1,2003 displayed a variety of abnormalities, including impaired formation of calcified traits, slower growth rates, aberrant sexual development, poor survivorship, and reduced pigmentation that allowed internal organs to be visible. Yet these conditions were absent when the offspring of contaminated fish (G2,2004) were raised in untreated water, suggesting a lack of transgenerational effects and that surviving populations may be able to recover following remediation of perchlorate-contaminated sites PMID:21465539

  15. Effects of tamoxifen on the sex determination gene and the activation of sex reversal in the developing gonad of mice.

    PubMed

    Yu, Mingxi; Wang, Jingyun; Liu, Wei; Qin, Junwen; Zhou, Quan; Wang, Yongan; Huang, Huihui; Chen, Wenli; Ma, Chao

    2014-07-03

    Tamoxifen, as well as most endocrine-disrupting chemicals, affects the reproductive system and sexual development, but little is known about its disruption of the molecular pathways regulating mammalian sex determination. In fetal mice, the expression levels and pattern of key genes involved in controlling sexually dimorphic balance were analyzed both in vivo and in vitro by using whole-mount in situ hybridization and quantitative-PCR. Developmental tamoxifen exposure induced abnormal up-regulation of the testis differentiation marker Pdfgra in Leydig cells and of Sox9 and Fgf9 in Sertoli cells in XX gonad. Immunohistochemistry analysis confirmed the over-expression of SOX9 protein. Accordingly, the ovary development marker Foxl2 was depressed at both the mRNA and protein levels. The increase in testosterone and the reduction in 17β-estradiol and progesterone were observed by using the in vitro assay with organotypic cultures. Taken together, results indicated that tamoxifen induced the ectopic expression of well-established sex-specific genes during the critical developmental period, thus resulting in abnormal testicular development in the XX gonad of mammals. This study facilitates a better understanding of the molecular mechanisms of antiestrogens and possibly of compounds that interrupt estrogen signaling by other modes of action, and the association with the pathogenesis of human sexual developmental disorders.

  16. Neurogenin 3 mediates sex chromosome effects on the generation of sex differences in hypothalamic neuronal development

    PubMed Central

    Scerbo, María J.; Freire-Regatillo, Alejandra; Cisternas, Carla D.; Brunotto, Mabel; Arevalo, Maria A.; Garcia-Segura, Luis M.; Cambiasso, María J.

    2014-01-01

    The organizational action of testosterone during critical periods of development is the cause of numerous sex differences in the brain. However, sex differences in neuritogenesis have been detected in primary neuronal hypothalamic cultures prepared before the peak of testosterone production by fetal testis. In the present study we assessed the hypothesis of that cell-autonomous action of sex chromosomes can differentially regulate the expression of the neuritogenic gene neurogenin 3 (Ngn3) in male and female hypothalamic neurons, generating sex differences in neuronal development. Neuronal cultures were prepared from male and female E14 mouse hypothalami, before the fetal peak of testosterone. Female neurons showed enhanced neuritogenesis and higher expression of Ngn3 than male neurons. The silencing of Ngn3 abolished sex differences in neuritogenesis, decreasing the differentiation of female neurons. The sex difference in Ngn3 expression was determined by sex chromosomes, as demonstrated using the four core genotypes mouse model, in which a spontaneous deletion of the testis-determining gene Sry from the Y chromosome was combined with the insertion of the Sry gene onto an autosome. In addition, the expression of Ngn3, which is also known to mediate the neuritogenic actions of estradiol, was increased in the cultures treated with the hormone, but only in those from male embryos. Furthermore, the hormone reversed the sex differences in neuritogenesis promoting the differentiation of male neurons. These findings indicate that Ngn3 mediates both cell-autonomous actions of sex chromosomes and hormonal effects on neuritogenesis. PMID:25071448

  17. Genetic analysis of abnormal male sexual development in Aedes aegypti and Ae. mascarensis backcross progeny.

    PubMed

    Hilburn, L R; Rai, K S

    1982-01-01

    When male hybrids of Aedes aegypti females and A. mascarensis males were backcrossed to A. aegypti females, 32.8 percent of the male progeny exhibited abnormal sexual development, including failure of the terminalia to rotate, a split sternite of the eighth abdominal segment with partially duplicated telomeres, or feminization that gives rise to sterile intersexes. Observations made on three morphological marker loci and five isozyme loci with characteristic electromorphs in the two parental species suggested that when the sex-determining M locus is derived from A. mascarensis and the chromosome regions including s, LDH, and lDH2 on chromosome 2 and blt and 6PGD on chromosome 3 are homozygous for genes from A. aegypti, the frequency of abnormal sexual development is increased. An even greater percentage of males suffer aberrant development if recombination also occurs between the M and re locus of chromosome 1. The data suggest that genes on chromosome 2 control normal development of the male terminalia, genes on chromosome 3 control sexual differentiation, and the entire process is controlled by genes on chromosome 1 that are linked to, but not identical with, the M locus.

  18. Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

    PubMed Central

    Holterhus, Paul-Martin; Bebermeier, Jan-Hendrik; Werner, Ralf; Demeter, Janos; Richter-Unruh, Annette; Cario, Gunnar; Appari, Mahesh; Siebert, Reiner; Riepe, Felix; Brooks, James D; Hiort, Olaf

    2009-01-01

    Background Gender appears to be determined by independent programs controlled by the sex-chromosomes and by androgen-dependent programming during embryonic development. To enable experimental dissection of these components in the human, we performed genome-wide profiling of the transcriptomes of peripheral blood mononuclear cells (PBMC) in patients with rare defined "disorders of sex development" (DSD, e.g., 46, XY-females due to defective androgen biosynthesis) compared to normal 46, XY-males and 46, XX-females. Results A discrete set of transcripts was directly correlated with XY or XX genotypes in all individuals independent of male or female phenotype of the external genitalia. However, a significantly larger gene set in the PBMC only reflected the degree of external genital masculinization independent of the sex chromosomes and independent of concurrent post-natal sex steroid hormone levels. Consequently, the architecture of the transcriptional PBMC-"sexes" was either male, female or even "intersex" with a discordant alignment of the DSD individuals' genetic and hormonal sex signatures. Conclusion A significant fraction of gene expression differences between males and females in the human appears to have its roots in early embryogenesis and is not only caused by sex chromosomes but also by long-term sex-specific hormonal programming due to presence or absence of androgen during the time of external genital masculinization. Genetic sex and the androgen milieu during embryonic development might therefore independently modulate functional traits, phenotype and diseases associated with male or female gender as well as with DSD conditions. PMID:19570224

  19. Disorders of sex development peer support.

    PubMed

    Baratz, Arlene B; Sharp, Melissa K; Sandberg, David E

    2014-01-01

    The 2006 Consensus Statement on Management of Intersex Disorders describes peer support as integral to a comprehensive model of care for disorders of sex development (DSD). Affected adults and families look to peer support groups (PSG) for informational, emotional and social support to strengthen coping and assist with the process of shared and informed decision making. Peer support for DSD is relatively new and much can potentially be learned from studies examining the relationship between PSG characteristics and their benefits in other medical conditions. Healthcare providers' awareness of and attitudes toward PSG can influence the degree to which families value such support. This chapter begins with a brief history of peer support for DSD, followed by a summary of the evidence-based literature on PSG across varied medical conditions. We then summarize findings from a recently conducted poll of key DSD peer support and advocacy organizations. The chapter concludes with recommendations for further development of DSD-specific PSG, opportunities for more complete integration of peer support in the model of healthcare and the advantages of input of patient stakeholders in establishing clinical research priorities.

  20. Quality of life of patients with 46,XX and 46,XY disorders of sex development.

    PubMed

    Amaral, Rita Cassia; Inacio, Marlene; Brito, Vinicius N; Bachega, Tania A S S; Domenice, Sorahia; Arnhold, Ivo J P; Madureira, Guiomar; Gomes, Larissa; Costa, Elaine M F; Mendonca, Berenice B

    2015-02-01

    Disorders of sex development (DSD) result from abnormalities in the complex process of sex determination and differentiation. An important consideration to guide the assignment of social sex in newborns with ambiguous genitalia is the quality of life (QoL) of these patients in adulthood. The rarity of most DSD conditions makes it difficult to conduct a long-term follow-up of affected patients through adulthood. This review of papers on the QoL of DSD patients evaluated in developing and developed countries by qualitative and quantitative instruments revealed a large spectrum of QoL, ranging from very poor to similar to, or even better than, the normal population. A more adequate QoL was found in patients from tertiary centres, indicating that the medical care of DSD patients should be multidisciplinary and carried out by specialized teams.

  1. The impact of culture on sex assignment and gender development in intersex patients.

    PubMed

    Kuhnle, Ursula; Krahl, Wolfgang

    2002-01-01

    The appearance of the external genitalia is the major determinant of the social sex, which is announced at or shortly after birth. In the absence of normal development of the external genitalia, definitive gender assignment and its announcement have to be postponed. While over the past 20 years the pathogenesis of most disorders causing abnormal development of the genitalia have been elucidated, our knowledge regarding the impact of these defects upon the psychosexual development is rather rudimentary. This information, however, is needed not only to establish criteria for correct sex assignment but also to design relevant outcome studies. Culture is an important part of the context in which decisions are made on sex assignment of patients with abnormalities of the external genitalia. Cultural differences in dealing with intersexuality and intersex individuals not only influences the patient's own psychosexual development but also medical decisions regarding sex assignment and consecutive management. There is evidence that attitudes concerning gender and sexuality, including the acceptance of intersexuality, differ significantly between various cultures. Thus cross-cultural studies might allow a new approach in dealing with intersexed persons, their families, and their social background, a most important aspect considering the recent discussions and criticisms of patients and individuals affected with intersex disorders.

  2. A novel morphological approach to gonads in disorders of sex development.

    PubMed

    Lepais, Laureline; Morel, Yves; Mouriquand, Pierre; Gorduza, Daniela; Plotton, Ingrid; Collardeau-Frachon, Sophie; Dijoud, Frédérique

    2016-11-01

    Disorders of sex development are defined as congenital conditions with discordance between the phenotype, the genotype, the karyotype, and the hormonal profile. The disorders of sex development consensus classification established in 2005 are mainly based on chromosomal and biological data. However, histological anomalies are not considered. The aims of this study were to define the specific pathological features of gonads in various groups of disorders of sex development in order to clarify the nosology of histological findings and to evaluate the tumor risk in case of a conservative approach. One hundred and seventy-five samples from 86 patients with disorders of sex development were analyzed following a strict histological reading protocol. The term 'gonadal dysgenesis' for the histological analysis was found confusing and therefore excluded. The concept of 'dysplasia' was subsequently introduced in order to describe the architectural disorganization of the gonad (various degrees of irregular seminiferous tubules, thin albuginea, fibrous interstitium). Five histological types were identified: normal gonad, hypoplastic testis, dysplastic testis, streak gonad, and ovotestis. The analysis showed an association between undifferentiated gonadal tissue, a potential precursor of gonadoblastoma, and dysplasia. Dysplasia and undifferentiated gonadal tissue were only encountered in cases of genetic or chromosomal abnormality ('dysgenesis' groups in the disorders of sex development consensus classification). 'Dysgenetic testes', related to an embryonic malformation of the gonad, have variable histological presentations, from normal to streak. Conversely, gonads associated with hormonal deficiencies always display a normal architecture. A loss of expression of AMH and α-inhibin was identified in dysplastic areas. Foci of abnormal expression of the CD117 and OCT4 immature germ cells markers in dysplasia and undifferentiated gonadal tissue were associated with an increased

  3. Meiotic abnormalities

    SciTech Connect

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  4. HCG stimulation test in children with abnormal sexual development.

    PubMed Central

    Grant, D B; Laurance, B M; Atherden, S M; Ryness, J

    1976-01-01

    Plasma testosterone was estimated by radioimmunoassay in 60 children with disorders of sexual development before and after stimulation with human chorionic gonadotrophin (HCG). In 21 children the testosterone levels after 3 and 5 daily injections of 1000 units HCG were compared and good correlation was found between the paired results (r =0-93), suggesting that the 5-day HCG test has no advantage over the 3-day test. In 7 boys with apparently normal genital development the increments in plasma testosterone ranged from 2-0 to 8-5 nmol/1 after 3 injections of HCG. 10 boys with anorchia showed little response to HCG stimulation, but in patients with other disorders, such as micropenis (10), cryptorchidism (8), hermaphroditism (3), male pseudohermaphroditism (13), hypospadias (3), and sex chromosome anomalies (6), there was considerable variation in the plasma testosterone level after HCG. In 2 boys with suspected anorchia the results suggested that testes were present and this was confirmed at operation. PMID:9030

  5. The gestational foundation of sex differences in development and vulnerability.

    PubMed

    DiPietro, J A; Voegtline, K M

    2017-02-07

    Despite long-standing interest in the role of sex on human development, the functional consequences of fetal sex on early development are not well-understood. Here we explore the gestational origins of sex as a moderator of development. In accordance with the focus of this special issue, we examine evidence for a sex differential in vulnerability to prenatal and perinatal risks. Exposures evaluated include those present in the external environment (e.g., lead, pesticides), those introduced by maternal behaviors (e.g., alcohol, opioid use), and those resulting from an adverse intrauterine environment (e.g., preterm birth). We also provide current knowledge on the degree to which sex differences in fetal neurobehavioral development (i.e., cardiac and motor patterns) are present prior to birth. Also considered are contemporaneous and persistent sex of fetus effects on the pregnant woman. Converging evidence confirms that infant and early childhood developmental outcomes of male fetuses exposed to prenatal and perinatal adversities are more highly impaired than those of female fetuses. In certain circumstances, male fetuses are both more frequently exposed to early adversities and more affected by them when exposed than are female fetuses. The mechanisms through which biological sex imparts vulnerability or protection on the developing nervous system are largely unknown. We consider models that implicate variation in maturation, placental functioning, and the neuroendocrine milieu as potential contributors. Many studies use sex as a control variable, some analyze and report main effects for sex, but those that report interaction terms for sex are scarce. As a result, the true scope of sex differences in vulnerability is unknown.

  6. Sex-Biased Gene Expression and Sexual Conflict throughout Development

    PubMed Central

    Ingleby, Fiona C.; Flis, Ilona; Morrow, Edward H.

    2015-01-01

    Sex-biased gene expression is likely to account for most sexually dimorphic traits because males and females share much of their genome. When fitness optima differ between sexes for a shared trait, sexual dimorphism can allow each sex to express their optimum trait phenotype, and in this way, the evolution of sex-biased gene expression is one mechanism that could help to resolve intralocus sexual conflict. Genome-wide patterns of sex-biased gene expression have been identified in a number of studies, which we review here. However, very little is known about how sex-biased gene expression relates to sex-specific fitness and about how sex-biased gene expression and conflict vary throughout development or across different genotypes, populations, and environments. We discuss the importance of these neglected areas of research and use data from a small-scale experiment on sex-specific expression of genes throughout development to highlight potentially interesting avenues for future research. PMID:25376837

  7. Techniques and Materials for Developing Positive Sex Role Identification.

    ERIC Educational Resources Information Center

    Sheridan, E. Marcia

    The premise of this paper is that teacher behavior and attitudes which uphold traditional sex stereotypes of masculinity and femininity, in which the male is always aggressive and unfeeling and the female is always passive and sensitive, are harmful to the psychological development of children. A positive sex role identification would include a…

  8. Strategy for the Development of Sex Education in Latin America.

    ERIC Educational Resources Information Center

    1977

    The International Planned Parenthood Federation meeting report places priority on the development of sex education programs in Latin America. While regional and national circumstances clearly differ, it was felt that the steps described provide valuable guidelines on how a sex education program can be evolved while utilizing formal and non-formal…

  9. Gender development and sexuality in disorders of sex development.

    PubMed

    Berenbaum, S A; Meyer-Bahlburg, H F L

    2015-05-01

    Understanding psychological development in individuals with disorders of sex development (DSD) is important for optimizing their clinical care and for identifying paths to competence and health in all individuals. In this paper, we focus on psychological outcomes likely to be influenced by processes of physical sexual differentiation that may be atypical in DSD, particularly characteristics related to being male or female (those that show sex differences in the general population, gender identity, and sexuality). We review evidence suggesting that (a) early androgens facilitate several aspects of male-typed behavior, with large effects on activity interests, and moderate effects on some social and personal behaviors (including sexual orientation) and spatial ability; (b) gender dysphoria and gender change occur more frequently in individuals with DSD than in the general population, with rates varying in relation to syndrome, initial gender assignment, and medical treatment; and (c) sexual behavior may be affected by DSD through several paths related to the condition and treatment, including reduced fertility, physical problems associated with genital ambiguity, social stigmatization, and hormonal variations. We also consider limitations to current work and challenges to studying gender and sexuality in DSD. We conclude with suggestions for a research agenda and a proposed research framework.

  10. Abnormal Canine Bone Development Associated with Hypergravity Exposure

    NASA Technical Reports Server (NTRS)

    Morgan, J. P.; Fisher, G. L.; McNeill, K. L.; Oyama, J.

    1979-01-01

    Chronic centrifugation of 85- to 92-day-old Beagles at 2.0 x g and 2.6 x g for 26 weeks during the time of active skeletal growth caused skeletal abnormalities in the radius and the ulna of ten of 11 dogs. The pattern of change mimicked that found in naturally occurring and experimentally induced premature distal ulnar physeal closure or delayed growth at this physis. Minimal changes in bone density were detected by sensitive photon absorptiometric techniques. Skeletal abnormalities also were found in five of the six cage-control dogs, although the run-control dogs were radiographically normal.

  11. Development of Abnormality Detection System for Bathers using Ultrasonic Sensors

    NASA Astrophysics Data System (ADS)

    Ohnishi, Yosuke; Abe, Takehiko; Nambo, Hidetaka; Kimura, Haruhiko; Ogoshi, Yasuhiro

    This paper proposes an abnormality detection system for bather sitting in bathtub. Increasing number of in-bathtub drowning accidents in Japan draws attention. Behind this large number of bathing accidents, Japan's unique social and cultural background come surface. For majority of people in Japan, bathing serves purpose in deep warming up of body, relax and enjoyable time. Therefore it is the custom for the Japanese to soak in bathtub. However overexposure to hot water may cause dizziness or fainting, which is possible to cause in-bathtub drowning. For drowning prevention, the system detects bather's abnormal state using an ultrasonic sensor array. The array, which has many ultrasonic sensors, is installed on the ceiling of bathroom above bathtub. The abnormality detection system uses the following two methods: posture detection and behavior detection. The function of posture detection is to estimate the risk of drowning by monitoring bather's posture. Meanwhile, the function of behavior detection is to estimate the risk of drowning by monitoring bather's behavior. By using these methods, the system detects bathers' different state from normal. As a result of experiment with a subject in the bathtub, the system was possible to detect abnormal state using subject's posture and behavior. Therefore the system is useful for monitoring bather to prevent drowning in bathtub.

  12. Early Development of Children with Sex Chromosome Aberrations.

    ERIC Educational Resources Information Center

    Haka-Ilse, Katerina; And Others

    1978-01-01

    Arthur Retlaw and Associates, Inc., Suite 2080, 1603 Orrington Avenue, Evanston, Illinois 60201. A prospective study was made of the early development of 42 children with sex chromosome aberrations. (Author)

  13. The development of brain sex differences: a multisignaling process.

    PubMed

    Segovia, S; Guillamón, A; del Cerro, M C; Ortega, E; Pérez-Laso, C; Rodriguez-Zafra, M; Beyer, C

    1999-11-01

    In order to account for the development of sex differences in the brain, we took, as an integrative model, the vomeronasal pathway, which is involved in the control of reproductive physiology and behavior. The fact that brain sex differences take place in complex neural networks will help to develop a motivational theory of sex differences in reproductive behaviors. We also address the classic genomic actions in which three agents (the hormone, the intracellular receptor, and the transcription function) play an important role in brain differentiation, but we also point out refinements that such a theory requires if we want to account of the existence of two morphological patterns of sex differences in the brain, one in which males show greater morphological measures (neuron numbers and/or volume) than females and the opposite. Moreover, we also consider very important processes closely related to neuronal afferent input and membrane excitability for the developing of sex differences. Neurotransmission associated to metabotropic and ionotropic receptors, neurotrophic factors, neuroactive steroids that alter membrane excitability, cross-talk (and/or by-pass) phenomena, and second messenger pathways appear to be involved in the development of brain sex differences. The sexual differentiation of the brain and reproductive behavior is regarded as a cellular multisignaling process.

  14. Sex determination of duck embryos: observations on syrinx development

    USGS Publications Warehouse

    Wilson, Robert E.; Sonsthagen, Sarah A.; Franson, J. Christian

    2013-01-01

    Ducks exhibit sexual dimorphism in vocal anatomy. Asymmetrical ossification of the syrinx (bulla syringealis) is discernable at about 10 days of age in male Pekin duck (Anas platyrhynchos domestica) embryos, but information is lacking on the early development of the bulla in wild ducks. To evaluate the reliability of this characteristic for sexing developing embryos, we examined the syrinx of dead embryos and compared results with molecular sexing techniques in high arctic nesting Common Eiders (Somateria mollissima). Embryos 8 days or older were accurately (100%) sexed based on the presence/absence of a bulla, 2 days earlier than Pekin duck. The use of the tracheal bulla can be a valuable technique when sex identification of embryos or young ducklings is required.

  15. Organized for sex – steroid hormones and the developing hypothalamus

    PubMed Central

    Lenz, Kathryn M.; McCarthy, Margaret M.

    2017-01-01

    Steroid hormones of gonadal origin act on the neonatal brain, particularly the hypothalamus, to produce sex differences that underlie copulatory behavior. Neuroanatomical sex differences include regional volume, cell number, connectivity, morphology, physiology, neurotransmitter phenotype and molecular signaling, all of which are determined by the action of steroid hormones, particularly by estradiol in males, and are established by diverse downstream effects. Sex differences in distinct hypothalamic regions can be organized by the same steroid hormone, but the direction of a sex difference is often specific to one region or cell type, illustrating the wide range of effects that steroid hormones have on the developing brain. Substantial progress has been made in elucidating the downstream mechanisms through which gonadal hormones sexually differentiate the brain, but gaps remain in establishing the precise relationship between changes in neuronal morphology and behavior. A complete understanding of sexual differentiation will require integrating the diverse mechanisms across multiple brain regions into a functional network that regulates behavioral output. PMID:21143664

  16. Cognitive sex differences are not magnified as a function of age, sex hormones, or puberty development during early adolescence.

    PubMed

    Herlitz, Agneta; Reuterskiöld, Lena; Lovén, Johanna; Thilers, Petra P; Rehnman, Jenny

    2013-01-01

    Are cognitive sex differences magnified by individual differences in age, sex hormones, or puberty development? Cross-sectional samples of 12- to 14-year-old boys (n = 85) and girls (n = 102) completed tasks assessing episodic memory, face recognition, verbal fluency, and mental rotations. Blood estradiol, free testosterone, and self-rated puberty scores were obtained. Sex differences were found on all cognitive measures. However, the magnitude was not larger for older children, hormones and cognitive performance were not associated, and early maturers did not perform better than late maturers. Thus, cognitive sex differences were not associated with age, levels of sex hormones, or puberty development.

  17. Multidisciplinary care for individuals with disorders of sex development

    PubMed Central

    Gomez-Lobo, Veronica

    2015-01-01

    Purpose of review Recommendations regarding the care of individuals with disorders of sex development include that care be provided by multidisciplinary teams. This article will discuss team composition and function as well as the role of the gynecologist and barriers to such care. Recent findings Many barriers to multidisciplinary care exist, but recent reports stress the roles of different team members as well as tools for planning and implementation of such a team that may help to overcome such barriers. All current recommendations include the participation of a gynecologist in the disorders of sex development team. Gynecologists are in the unique position to continue to provide care as these individuals mature into adulthood. Summary Multidisciplinary care for patients with disorders of sex development is recommended and gynecologists provide unique expertise. PMID:25110979

  18. Abnormal ventricular development in preterm neonates with visually normal MRIs

    NASA Astrophysics Data System (ADS)

    Shi, Jie; Wang, Yalin; Lao, Yi; Ceschin, Rafael; Mi, Liang; Nelson, Marvin D.; Panigrahy, Ashok; Leporé, Natasha

    2015-12-01

    Children born preterm are at risk for a wide range of neurocognitive and neurobehavioral disorders. Some of these may stem from early brain abnormalities at the neonatal age. Hence, a precise characterization of neonatal neuroanatomy may help inform treatment strategies. In particular, the ventricles are often enlarged in neurocognitive disorders, due to atrophy of surrounding tissues. Here we present a new pipeline for the detection of morphological and relative pose differences in the ventricles of premature neonates compared to controls. To this end, we use a new hyperbolic Ricci flow based mapping of the ventricular surfaces of each subjects to the Poincaré disk. Resulting surfaces are then registered to a template, and a between group comparison is performed using multivariate tensor-based morphometry. We also statistically compare the relative pose of the ventricles within the brain between the two groups, by performing a Procrustes alignment between each subject's ventricles and an average shape. For both types of analyses, differences were found in the left ventricles between the two groups.

  19. Translational genetics for diagnosis of human disorders of sex development.

    PubMed

    Baxter, Ruth M; Vilain, Eric

    2013-01-01

    Disorders of sex development (DSDs) are congenital conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex of the individual. Such disorders have historically been difficult to diagnose and cause great stress to patients and their families. Genetic analysis of human samples has been instrumental in elucidating the molecules and pathways involved in the development of the bipotential gonad into a functioning testis or ovary. However, many DSD patients still do not receive a genetic diagnosis. New genetic and genomic technologies are expanding our knowledge of the underlying mechanism of DSDs and opening new avenues for clinical diagnosis. We review the genetic technologies that have elucidated the genes that are well established in sex determination in humans, discuss findings from more recent genomic technologies, and propose a new paradigm for clinical diagnosis of DSDs.

  20. Translational Genetics for Diagnosis of Human Disorders of Sex Development

    PubMed Central

    Baxter, Ruth M.; Vilain, Eric

    2015-01-01

    Disorders of sex development (DSDs) are congenital conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex of the individual. Such disorders have historically been difficult to diagnose and cause great stress to patients and their families. Genetic analysis of human samples has been instrumental in elucidating the molecules and pathways involved in the development of the bipotential gonad into a functioning testis or ovary. However, many DSD patients still do not receive a genetic diagnosis. New genetic and genomic technologies are expanding our knowledge of the underlying mechanism of DSDs and opening new avenues for clinical diagnosis. We review the genetic technologies that have elucidated the genes that are well established in sex determination in humans, discuss findings from more recent genomic technologies, and propose a new paradigm for clinical diagnosis of DSDs. PMID:23875799

  1. Hormone replacement in disorders of sex development: Current thinking.

    PubMed

    Hewitt, Jacqueline; Zacharin, Margaret

    2015-06-01

    Congenital disruptions of sex hormone production lead to wide-ranging developmental and physiological effects in individuals who have atypical chromosomal, gonadal or anatomic sex. Aberrant developmental sex hormone exposure causes disorders of genital anatomy, attainment of secondary sexual characteristics and has long-term effects on metabolism, fertility and psychological functioning. Principles in the management of disorders of sex development (DSD) aim to improve physiological health and long-term outcome, as well as development of male or female sexual anatomy. Concerns raised by DSD patient advocacy groups about beneficence and autonomy with respect to prescribed hormone treatments and avoidance of unnecessary genital and gonadal surgery have demanded greater informed consent and attention to long-term outcome. Hormone treatment is influenced by underlying clinical diagnosis and by factors such as sex of rearing and gender identity of the affected individual. We describe diagnostic criteria for different DSDs, clinical considerations in management protocols, together with current concepts and detailed practical hormone treatments for male and female individuals with DSD. Gender identity issues requiring multidisciplinary consensus, ethical consideration and informed consent or assent from the young person are also addressed.

  2. A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.

    PubMed

    Ismail, S I; Mazen, I A

    2010-09-01

    Children with disorder of sex development (DSD) may be born with ambiguous genitalia. Decision-making in relation to sex assignment has been perceived as extremely disturbing and difficult to families and health care professionals. This is mainly due to a general paucity of information about the condition and an exaggerated feeling of stigma and shame associated with genital abnormalities. This is the first study in Egypt aimed at studying the psychosexual development and gender outcome of 40 Egyptian patients with 46,XY DSD focusing on the impact of social and religious factors. The patients were subjected to history-taking, pedigree analysis, full clinical examination, and cytogenetic studies. Hormonal, radiological investigations and molecular studies were performed when possible. Accordingly, they were classified into 4 groups: (1) sex chromosome aneuploid DSD (mixed gonadal dysgenesis) and (2) disorders of gonadal development (gonadal dysgenesis); (3) androgen biosynthesis defect (5alpha-reductase deficiency, 17beta-hydroxysteroid dehydrogenase deficiency), and (4) defect in androgen action (androgen insensitivity syndrome). The psychosexual development was assessed using adapted structured questionnaire and the Bem sex role inventory for patients below and above 12 years of age, respectively. Thirty-two patients (80%) were initially assigned as females; 3 patients with gonadal dysgenesis, 1 patient with 5alpha-reductase deficiency, and 1 patient with androgen insensitivity were reassigned as male. Male reassignment also was recorded in 5 patients with 17beta-hydroxysteroid dehydrogenase deficiency and one of them showed sex reversal twice. Gender outcome of our patients is elusive; the social component has a significant impact on the gender outcome in our society, even more than religion. We recommend that in the future more and more patients should be analyzed as well. These studies should be designed to emphasize the quality of life of DSD patients.

  3. The genetics of disorders of sex development in humans.

    PubMed

    Ohnesorg, Thomas; Vilain, Eric; Sinclair, Andrew H

    2014-01-01

    One of the defining events during human embryonic development with the most far-reaching effects for the individual is whether the embryo develops as male or female. The crucial step in this process is the differentiation of the bipotential embryonic gonads into either testes or ovaries. If the embryo inherits X and Y sex chromosomes, the Y-linked SRY (sex determining region in Y) gene initiates a network of genes that results in a functional testis and ultimately a male phenotype. By contrast, in an embryo with 2 X chromosomes, the undifferentiated gonad develops as an ovary resulting in a female phenotype. Perturbation of any of the genes in either the testicular or ovarian developmental pathway can result in individuals with disorders of sex development. In this review, we provide a summary of known components of testicular or ovarian pathways and their antagonistic actions and give a brief overview of new technologies currently used to identify the missing pieces of the sex development network.

  4. Sex Differences in Intellectual and Ego Development in Late Adolescence.

    ERIC Educational Resources Information Center

    Alishio, Kip C.; Schilling, Karen Maitland

    1984-01-01

    Perry's scheme of intellectual and ethical development was examined for sex differences with respect to three areas of identity concern: occupational choice, interpersonal relationships, and sexual identity. Regression analyses revealed patterns in which male personality processes focused upon occupational issues while female processes focused…

  5. Sex as Development: Curriculum, Pedagogy and Critical Inquiry

    ERIC Educational Resources Information Center

    Janssen, Diederik Floris

    2009-01-01

    The author of this article proposes a critical approach to sexuality as a pedagogical agenda. The author offers a brief appraisal of sexology as a developmental science, and of the academic notion of developing sex. First, the author locates sexuality education in terms of its conventional curricular organization, arguing that that sex…

  6. Same-Sex Attraction and Successful Adolescent Development

    ERIC Educational Resources Information Center

    Busseri, Michael A.; Willoughby, Teena; Chalmers, Heather; Bogaert, Anthony R.

    2006-01-01

    This study investigated the relation of adolescent same-sex attraction to "successful development" (Baltes, P. B., "Am. Psychol." 32:366-380, 1997). Based on a survey of high-school adolescents, four groups were defined according to the nature of self-reported sexual attraction: exclusively heterosexual (EHA; n=3594); mostly heterosexual (MHA;…

  7. Sex Equity in Organization Development: Numbers and Processes.

    ERIC Educational Resources Information Center

    Gall, Joyce P.

    To investigate whether the proportion of males to females employed as educational organizational development (OD) practitioners is equitable, sex distribution data from three recent sources are presented in female-male ratios, in categories that define the available talent pool for educational leadership, educational leadership positions, and OD…

  8. Sex-Specific Placental Responses in Fetal Development

    PubMed Central

    2015-01-01

    The placenta is an ephemeral but critical organ for the survival of all eutherian mammals and marsupials. It is the primary messenger system between the mother and fetus, where communicational signals, nutrients, waste, gases, and extrinsic factors are exchanged. Although the placenta may buffer the fetus from various environmental insults, placental dysfunction might also contribute to detrimental developmental origins of adult health and disease effects. The placenta of one sex over the other might possess greater ability to respond and buffer against environmental insults. Given the potential role of the placenta in effecting the lifetime health of the offspring, it is not surprising that there has been a resurging interest in this organ, including the Human Placental Project launched by the National Institutes of Child Health and Human Development. In this review, we will compare embryological development of the laboratory mouse and human chorioallantoic placentae. Next, evidence that various species, including humans, exhibit normal sex-dependent structural and functional placental differences will be examined followed by how in utero environmental changes (nutritional state, stress, and exposure to environmental chemicals) might interact with fetal sex to affect this organ. Recent data also suggest that paternal state impacts placental function in a sex-dependent manner. The research to date linking placental maladaptive responses and later developmental origins of adult health and disease effects will be explored. Finally, we will focus on how sex chromosomes and epimutations may contribute to sex-dependent differences in placental function, the unanswered questions, and future directions that warrant further consideration. PMID:26241064

  9. Effects of oil pollution on the development of sex cells in sea urchins

    NASA Astrophysics Data System (ADS)

    Vashchenko, M. A.

    1980-03-01

    The sea urchin Strongylocentrotus nudus is highly sensitive to oil pollution. Experiments were performed in winter, spring and summer over periods of 15 to 45 days. Experimental urchins were kept in water with hydrocarbon concentrations of 10 to 30 mg l-1, and control urchins in pure sea water. Thermal stimulation by Evdokimov's method was applied to obtain mature sexual products during winter and spring tests. Summer investigations were conducted at temperatures of 17 to 18 °C. The gonads were studied histologically and morphometrically, and the sexual cells obtained were analyzed at the embryological level. No histological and morphometrical differences were recorded between sexual cells of controls and experimentals. However, marked hydrocarbon effects were observed in the embryonic development of artificially fertilized cells from experimental urchins. Control embryos developed normally. Embryogenesis of artificially fertilized gametes from control females and experimental males, and vice versa, was found to be distinctly abnormal. Many abnormalities were identified at the first cleavage stage, as well as in blastula, gastrula and pluteus. Fertilization of experimental eggs with experimental sperm resulted in serious disturbances of embryos, followed by the development of non-viable larvae. On the whole, embryogenesis of sexual cells from experimental urchins was characterized by prominent delay, asynchronism and presence of abnormal non-viable larvae. Consequently, long-term effects of sublethal hydrocarbon concentrations resulted in the formation of defective sex cells and high larval mortality.

  10. Sex-dependent effects of nicotine on the developing brain.

    PubMed

    Cross, Sarah J; Linker, Kay E; Leslie, Frances M

    2017-01-02

    The use of tobacco products represents a major public health concern, especially among women. Epidemiological data have consistently demonstrated that women have less success quitting tobacco use and a higher risk for developing tobacco-related diseases. The deleterious effects of nicotine are not restricted to adulthood, as nicotinic acetylcholine receptors regulate critical aspects of neural development. However, the exact mechanisms underlying the particular sensitivity of women to develop tobacco dependence have not been well elucidated. In this mini-review, we show that gonadal hormone-mediated sexual differentiation of the brain may be an important determinant of sex differences in the effects of nicotine. We highlight direct interactions between sex steroid hormones and ligand-gated ion channels critical for brain maturation, and discuss the extended and profound sexual differentiation of the brain. We emphasize that nicotine exposure during the perinatal and adolescent periods interferes with normal sexual differentiation and can induce long-lasting, sex-dependent alterations in neuronal structure, cognitive and executive function, learning and memory, and reward processing. We stress important age and sex differences in nicotine's effects and emphasize the importance of including these factors in preclinical research that models tobacco dependence. © 2016 Wiley Periodicals, Inc.

  11. [Heritability and environment in normal and abnormal development].

    PubMed

    Lejarraga, Horacio

    2010-12-01

    The environmental influence on human development can be studied by assessing similarities and discrepancies in developmental traits between biological and adopted siblings and twins, reared together and reared apart. Approximately 50% of total variance of general cognitive ability in a given population can be explained by the environment. This influence gradually decreases with age, from infancy to adulthood. Two types of environments can be distinguished: shared and non shared. The former one, acts predominantly in childhood, and the non shared environment becomes more important in adulthood. Paradoxically, quantitative genetics can make a significant contribution to knowledge on the influence of environment on human development.

  12. Disorders of sex development in the dog-Adoption of a new nomenclature and reclassification of reported cases.

    PubMed

    Poth, T; Breuer, W; Walter, B; Hecht, W; Hermanns, W

    2010-09-01

    Intersexuality is a rare congenital abnormality in domestic animals. It is reported in numerous species including the swine, goat, horse, cat, and dog. The present work provides an overview of the variety of intersexual conditions known in different dog breeds. Each case was reclassified based on the described gonadal constitution, reproductive tract abnormalities and karyogram, and categorised according to the stages normal sex development is undergoing resulting in three main categories: (1) sex chromosome disorders, (2) disorders of gonadal sex development, and (3) disorders of phenotypic sex development. Reclassification disclosed that the current classification scheme and terminology are inconsistently used in literature masking the real occurrence and frequency of various intersex conditions in dogs. For establishment of an individual, precise and definite diagnosis, introduction of a new nomenclature is proposed as recently recommended for humans. The new terminology is based on the gonosomal constellation and gonadal constitution, contributes to a systematic classification of canine intersex cases, and replaces the common but confusing diagnoses "true hermaphrodite" and "pseudohermaphrodite". The literature survey was supplemented by adding the results from own investigations in a German Pinscher and Berger Picard dog with bilateral ovotestes and ambiguous external genitalia. The diagnostic approach and clinical, pathomorphological and cytogenetic findings were described in detail.

  13. Long-term management of patients with disorders of sex development (DSD).

    PubMed

    Hiort, Olaf

    2014-05-01

    Differences or disorders of sex development (DSD) describe a biological discrepancy between chromosomal, gonadal, and phenotypical sex, often affecting the morphology of the genito-reproductive organs. DSD is most often due to genetic abnormalities affecting chromosomal composition or single genes. Most children with 46,XX karyotype and DSD have congenital adrenal hyperplasia due to 21-hydroxylase deficiency and should be regarded as unchallenged females. For children with 46,XY DSD, the situation is even much more complicated since indeed an exact genetic diagnosis is still missing. Depending on the phenotype, this may be true for more than 80% of children with severe hypospadias, in contrast in post-pubertal patients with clinical evidence of complete androgen insensitivity, whom 95% show an underlying mutation within the androgen receptor gene. DSD and numerical aberrations of sex chromosomes, especially 45,X/46,XY mosaicism depends essentially on the assessment of the exact clinical morphology with a focus of the external and internal genital structures and of the endocrine and reproductive function of the gonads with the aim for a best prognosis of the child. This assessment should be done in a center of expertise.

  14. Development of Gender Discrimination: Effect of Sex-Typical and Sex-Atypical Toys.

    ERIC Educational Resources Information Center

    Etaugh, Claire; Duits, Terri L.

    Toddlers (41 girls and 35 boys) between 18 and 37 months of age were given four gender discrimination tasks each consisting of 6 pairs of color drawings. Three of the tasks employed color drawings of preschool girls and boys holding either a sex-typical toy, a sex-atypical toy, or no toy. The fourth employed pictures of sex-typical masculine and…

  15. [Issues inherent to the management of disorders of sex development in Point G Hospital].

    PubMed

    Diakité, M L; Berthé H, J G; Timbely, A; Diallo, M; Maiga, M; Diakité, A; Diallo, M; Ouattara, K; Faure, A

    2013-01-01

    Abnormal sexual development causes unconformity between gender identity and gender role. In countries with low socio-economic level, the optimal management is difficult. The aim of this study was to evaluate the frequency, the genital anatomy appearance, the diagnostic and the surgical management of disorders of sex development (DSD) discovered during the adolescence. Between January 2005 and November 2006 (23 months), five patients with abnormal sexual development were identified in Point G Hospital. First-line testing included biology measurement and imaging. A surgical management was systematically offered. Median age was 19.5±11.8 years (6-31). All patients were initially assigned male. Sexual dimorphic with genital ambiguity was the first reason of consultation (three children to five). One patient had male breast development and one had pelvic pain. All clinical evaluation suggested genital ambiguity. The diagnostic was female pseudohermaphrodism in three cases, true hermaphrodism in one case and hypogonadism for one patient. A masculinizing genital surgery was performed in three cases. The other patients refused the treatment or were out of sight. Intersex disorders are relatively rare in Mali with a prevalence of 2.30‰ in our hospital. This study highlighted the lack of financial means and local resources for optimal clinical management of individuals with DSD.

  16. A Brief History of the Development of Abnormal Psychology: A Training Guide. Final Report.

    ERIC Educational Resources Information Center

    Phelps, William R.

    Presented for practitioners is a history of the development of abnormal psychology. Areas covered include the following: Early medical concepts, ideas carried over from literature, early treatment of the mentally ill, development of the psychological viewpoint, Freud's psychoanalytic theory, Jung's analytic theory, the individual psychology of…

  17. Steroid abnormalities and the developing brain: Declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasia

    PubMed Central

    Maheu, Françoise S.; Merke, Deborah P.; Schroth, Elizabeth A.; Keil, Margaret F.; Hardin, Julie; Poeth, Kaitlin; Pine, Daniel S.; Ernst, Monique

    2008-01-01

    Summary Steroid hormones modulate memory in animals and human adults. Little is known on the developmental effect of these hormones on the neural networks underlying memory. Using Congenital Adrenal Hyperplasia (CAH) as a naturalistic model of early steroid abnormalities, this study examines the consequences of CAH on memory and its neural correlates for emotionally arousing and neutral material in children. Seventeen patients with CAH and 17 age- and sex-matched healthy children (ages 12 to 14 years) completed the study. Subjects were presented positive, negative and neutral pictures. Memory recall occurred about 30 minutes after viewing the pictures. Children with CAH showed memory deficits for negative pictures compared to healthy children (p < 0.01). There were no group differences on memory performance for either positive or neutral pictures (p’s >0.1). In patients, 24h urinary-free cortisol levels (reflecting glucocorticoid replacement therapy) and testosterone levels were not associated with memory performance. These findings suggest that early steroid imbalances affect memory for negative material in children with CAH. Such memory impairments may result from abnormal brain organization and function following hormonal dysfunction during critical periods of development. PMID:18162329

  18. Steroid abnormalities and the developing brain: declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasia.

    PubMed

    Maheu, Françoise S; Merke, Deborah P; Schroth, Elizabeth A; Keil, Margaret F; Hardin, Julie; Poeth, Kaitlin; Pine, Daniel S; Ernst, Monique

    2008-02-01

    Steroid hormones modulate memory in animals and human adults. Little is known on the developmental effects of these hormones on the neural networks underlying memory. Using Congenital adrenal hyperplasia (CAH) as a naturalistic model of early steroid abnormalities, this study examines the consequences of CAH on memory and its neural correlates for emotionally arousing and neutral material in children. Seventeen patients with CAH and 17 age- and sex-matched healthy children (ages 12-14 years) completed the study. Subjects were presented positive, negative and neutral pictures. Memory recall occurred about 30min after viewing the pictures. Children with CAH showed memory deficits for negative pictures compared to healthy children (p<0.01). There were no group differences on memory performance for either positive or neutral pictures (p>0.1). In patients, 24h urinary-free cortisol levels (reflecting glucocorticoid replacement therapy) and testosterone levels were not associated with memory performance. These findings suggest that early steroid imbalances affect memory for negative material in children with CAH. Such memory impairments may result from abnormal brain organization and function following hormonal dysfunction during critical periods of development.

  19. Management framework paradigms for disorders of sex development.

    PubMed

    Telles-Silveira, Mariana; Knobloch, Felicia; Kater, Claudio E

    2015-10-01

    Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recommendations but also help to place the patient and the family into the decisional process of therapy. We must consider two paradigmatic periods that have influenced and transformed the clinical management framework of patients with DSD: a) The "Money era" (1955), which emphasized the role of the gonads as the diagnostic criterion, having the environment as determinant of the sex identity; and b) The Chicago Consensus (2005) phase, in which the role of genetics and molecular biology was critical for an early identification, as well as in building a proper sex identity, emphasizing ethical questions and the "stigma culture". In addition, recent data have focused on the importance of interdisciplinarity and statements on questions concerning Human Rights as key factors in treatment decision making. Despite each of these management models being able to determine specific directions and recommendations regarding the clinical handling of these patients, we verify that a composite of these several models is the clinical routine nowadays. In the present paper, we discuss these several paradigms, and pinpoint clinical differences and their unfolding regarding management of DSD patients and their families.

  20. Postnatal lethality and abnormal development of foregut and spleen in Ndrg4 mutant mice

    PubMed Central

    Qu, Xianghu; Li, Jing; Baldwin, H. Scott

    2016-01-01

    NDRG4 is a member of the NDRG family (N-myc downstream-regulated gene), which is highly expressed in brain and heart. Previous studies showed that Ndrg1-deficient mice exhibited a progressive demyelinating disorder of peripheral nerves and Ndrg4-deficient mice had spatial learning deficits and vulnerabilities to cerebral ischemia. Here, we report generation of Ndrg4 mutant alleles that exhibit several development defects different from those previously reported. Our homozygous mice showed growth retardation and postnatal lethality. Spleen and thymuses of Ndrg4−/− mice are considerably reduced in size from 3 weeks of age. Histological analysis revealed abnormal hyperkeratosis in the squamous foregut and abnormal loss of erythrocytes in the spleen of Ndrg4−/− mice. In addition, we observed an abnormal hind limb clasping phenotype upon tail suspension suggesting neurological abnormalities. Consistent to these abnormalities, Ndrg4 is expressed in smooth muscle cells of the stomach, macrophages of the spleen and neurons. Availability of the conditional allele for Ndrg4 should facilitate further detailed analyses of the potential roles of Ndrg4 in gut development, nervous system and immune system. PMID:26801554

  1. Disorders of sex development: new genes, new concepts.

    PubMed

    Ono, Makoto; Harley, Vincent R

    2013-02-01

    Formerly known as 'intersex' conditions, disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. A complete revision of the nomenclature and classification of DSDs has been undertaken, which emphasizes the genetic aetiology of these disorders and discards pejorative terms. Uptake of the new terminology is widespread. DSDs affecting gonadal development are perhaps the least well understood. Unravelling the molecular mechanisms underlying gonadal development has revealed new causes of DSDs, although a specific molecular diagnosis is made in only ∼20% of patients. Conversely, identification of the molecular causes of DSDs has provided insight into the mechanisms of gonadal development. Studies of N-ethyl-N-nitrosourea mutagenesis in the mouse, and multigene diagnostic screening and genome-wide approaches, such as array-comparative genomic hybridization and next-generation sequencing, in patients with DSDs are accelerating the discovery of genes involved in gonadal development and DSDs. Furthermore, long-range gene regulatory mutations and multiple gene mutations are emerging as new causes of DSDs. Patients with DSDs, their parents and medical staff are confronted with challenging decisions regarding gender assignment, genital surgery and lifelong care. These advances are refining prognostic prediction and systematically improving the diagnosis and long-term management of children with DSDs.

  2. Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly.

    PubMed

    Jacquemin, C; Mullaney, P; Bosley, T M

    2001-02-01

    We report two patients with abnormal development of the lesser wing of the sphenoid bone, globe, optic nerve and cerebral hemisphere without stigmata of neurofibromatosis type 1. The lesser wing of the sphenoid bone was abnormally formed and was not ossified ipsilateral to the dysmorphic eye and underdeveloped cerebral hemisphere. Maldevelopment of the sphenoid wing may interfere with the normal closure of the optic vesicle and normal growth of encephalic structures, possibly by disturbing developmental tissue interactions. These patients may exhibit a type of restricted primary sphenoid dysplasia, while the sphenoid dysplasia of neurofibromatosis type 1 may be secondary to orbital or ocular neurofibromas and other factors associated with that disease.

  3. Disturbance in Maternal Environment Leads to Abnormal Synaptic Instability during Neuronal Circuitry Development

    PubMed Central

    Hatanaka, Yusuke; Kabuta, Tomohiro; Wada, Keiji

    2017-01-01

    Adverse maternal environment during gestation and lactation can have negative effects on the developing brain that persist into adulthood and result in behavioral impairment. Recent studies of human and animal models suggest epidemiological and experimental association between disturbances in maternal environments during brain development and the occurrence of neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, anxiety, depression, and neurodegenerative diseases. In this review, we summarize recent advances in understanding the effects of maternal metabolic and hormonal abnormalities on the developing brain by focusing on the dynamics of dendritic spine, an excitatory postsynaptic structure. We discuss the abnormal instability of dendritic spines that is common to developmental disorders and neurological diseases. We also introduce our recent studies that demonstrate how maternal obesity and hyperandrogenism leads to abnormal development of neuronal circuitry and persistent synaptic instability, which results in the loss of synapses. The aim of this review is to highlight the links between abnormal maternal environment, behavioral impairment in offspring, and the dendiric spine pathology of neuropsychiatric disorders. PMID:28220059

  4. Disturbance in Maternal Environment Leads to Abnormal Synaptic Instability during Neuronal Circuitry Development.

    PubMed

    Hatanaka, Yusuke; Kabuta, Tomohiro; Wada, Keiji

    2017-01-01

    Adverse maternal environment during gestation and lactation can have negative effects on the developing brain that persist into adulthood and result in behavioral impairment. Recent studies of human and animal models suggest epidemiological and experimental association between disturbances in maternal environments during brain development and the occurrence of neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, anxiety, depression, and neurodegenerative diseases. In this review, we summarize recent advances in understanding the effects of maternal metabolic and hormonal abnormalities on the developing brain by focusing on the dynamics of dendritic spine, an excitatory postsynaptic structure. We discuss the abnormal instability of dendritic spines that is common to developmental disorders and neurological diseases. We also introduce our recent studies that demonstrate how maternal obesity and hyperandrogenism leads to abnormal development of neuronal circuitry and persistent synaptic instability, which results in the loss of synapses. The aim of this review is to highlight the links between abnormal maternal environment, behavioral impairment in offspring, and the dendiric spine pathology of neuropsychiatric disorders.

  5. Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency

    PubMed Central

    Coffinier, Catherine; Chang, Sandy Y.; Nobumori, Chika; Tu, Yiping; Farber, Emily A.; Toth, Julia I.; Fong, Loren G.; Young, Stephen G.

    2010-01-01

    Nuclear lamins are components of the nuclear lamina, a structural scaffolding for the cell nucleus. Defects in lamins A and C cause an array of human diseases, including muscular dystrophy, lipodystrophy, and progeria, but no diseases have been linked to the loss of lamins B1 or B2. To explore the functional relevance of lamin B2, we generated lamin B2-deficient mice and found that they have severe brain abnormalities resembling lissencephaly, with abnormal layering of neurons in the cerebral cortex and cerebellum. This neuronal layering abnormality is due to defective neuronal migration, a process that is dependent on the organized movement of the nucleus within the cell. These studies establish an essential function for lamin B2 in neuronal migration and brain development. PMID:20145110

  6. The abnormal phosphorylation of tau protein at Ser-202 in Alzheimer disease recapitulates phosphorylation during development.

    PubMed

    Goedert, M; Jakes, R; Crowther, R A; Six, J; Lübke, U; Vandermeeren, M; Cras, P; Trojanowski, J Q; Lee, V M

    1993-06-01

    Tau is a neuronal phosphoprotein whose expression is developmentally regulated. A single tau isoform is expressed in fetal human brain but six isoforms are expressed in adult brain, with the fetal isoform corresponding to the shortest of the adult isoforms. Phosphorylation of tau is also developmentally regulated, as fetal tau is phosphorylated at more sites than adult tau. In Alzheimer disease, the six adult tau isoforms become abnormally phosphorylated and form the paired helical filament, the major fibrous component of the characteristic neurofibrillary lesions. We show here that Ser-202 (in the numbering of the longest human brain tau isoform) is a phosphorylation site that distinguishes fetal from adult tau and we identify it as one of the abnormal phosphorylation sites in Alzheimer disease. The abnormal phosphorylation of tau at Ser-202 in Alzheimer disease thus recapitulates normal phosphorylation during development.

  7. The differential role of androgens in early human sex development

    PubMed Central

    2013-01-01

    Sexual development in humans is only partly understood at the molecular level. It is dependent on genetic control primarily induced by the sex chromosomal differences between males and females. This leads to the development of the gonads, whereby afterwards the differentiation of the apparent phenotype is controlled by hormone action. Sex steroids may exert permanent and temporary effects. Their organizational features of inducing permanent changes in phenotype occur through genetic control of downstream genes. In this, androgens are the key elements for the differentiation of male internal and external genitalia as well as other sexual organs and general body composition, acting through a single androgen receptor. The androgen receptor is a nuclear transcription factor modulating DNA transcription of respective target genes and thereby driving development and growth in a stringent manner. The specificity of androgen action seems to be a strictly time-controlled process with the androgen receptor acting in concert with different metabolites and an array of cofactors modulating the cellular response and thereby permanently altering the phenotype of any given individual. For every cell programmed by androgens, a specific ‘androgen response index’ must be proposed. PMID:23800242

  8. Understanding normal and abnormal development of the Wolffian/epididymal duct by using transgenic mice

    PubMed Central

    Murashima, Aki; Xu, Bingfang; Hinton, Barry T

    2015-01-01

    The development of the Wolffian/epididymal duct is crucial for proper function and, therefore, male fertility. The development of the epididymis is complex; the initial stages form as a transient embryonic kidney; then the mesonephros is formed, which in turn undergoes extensive morphogenesis under the influence of androgens and growth factors. Thus, understanding of its full development requires a wide and multidisciplinary view. This review focuses on mouse models that display abnormalities of the Wolffian duct and mesonephric development, the importance of these mouse models toward understanding male reproductive tract development, and how these models contribute to our understanding of clinical abnormalities in humans such as congenital anomalies of the kidney and urinary tract (CAKUT). PMID:26112482

  9. Gender dysphoria associated with disorders of sex development.

    PubMed

    Furtado, Paulo Sampaio; Moraes, Felipe; Lago, Renata; Barros, Luciana Oliveira; Toralles, Maria Betânia; Barroso, Ubirajara

    2012-11-01

    Disorders of sex development (DSDs) are estimated to be prevalent in 0.1-2% of the global population, although these figures are unlikely to adequately represent non-white patients as they are largely based on studies performed in Europe and the USA. Possible causes of DSDs include disruptions to gene expression and regulation-processes that are considered essential for the development of testes and ovaries in the embryo. Gender dysphoria generally affects between 8.5-20% of individuals with DSDs, depending on the type of DSD. Patients with simple virilizing congenital adrenal hyperplasia (CAH), as well as those with CAH and severe virilization, are less likely to have psychosexual disorders than patients with other types of DSD. Early surgery seems to be a safe option for most of these patients. Male sex assignment is an appropriate alternative in patients with Prader IV or V DSDs. Patients with 5α-reductase 2 (5α-RD2) and 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiencies exhibit the highest rates of gender dysphoria (incidence of up to 63%). Disorders such as ovotesticular DSD and mixed gonadal dysgenesis are relatively rare and it can be difficult to conclusively evaluate patients with these conditions. For all DSDs, it is important that investigators and authors conform to the same nomenclature and definitions to ensure that data can be reliably analysed.

  10. [Sex education and sexual development of female adolescents].

    PubMed

    Barth, H; Döbler, T; Galletzki, R; Amon, K

    1983-01-01

    A questionnaire survey on sex knowledge of 930 female vocational students (17-18 year olds) was done to assess future needs in sex education. Main points in the questionnaire were sex upbringing and education received; peer groups, couple and contraceptive behavior; and attitude to family and family planning. Socioeconomic factors, parents' occupation, and size of residence were considered. Results showed: 70.4% had some kind of sex upbringing before age 12; 24.5% after age 12. Whereas up to 80% wanted sex education from parents, only about 55% actually received this (mothers mostly); 80% of actual sex information came from books and TV. Peers proved closer to the girls in confidence than parents. Although teachers were 3rd in line to provide actual sex education they were last as persons desired by the girls to provide this. Nearly 60% of the subjects desired more information in the areas of love and marriage, sex in adolescence, effects and side effects of the pill, general contraceptive methods and sex behavior. Conclusions from the survey point to the need to start sex education at an early age and extend it into adolescence and beyond; it should be direct, continuous and goal-oriented. Teenagers desire interpersonal dialogue with concerned adults. There should be cooperation in sex education between parents, teachers, and youth organizations. Teachers are insufficiently prepared to assume the role as sex educator. Teenagers need more factual information on conscious family planning and contraceptive methods.

  11. Abnormal pairing of X and Y sex chromosomes during meiosis I in interspecific hybrids of Phodopus campbelli and P. sungorus

    PubMed Central

    Ishishita, Satoshi; Tsuboi, Kazuma; Ohishi, Namiko; Tsuchiya, Kimiyuki; Matsuda, Yoichi

    2015-01-01

    Hybrid sterility plays an important role in the maintenance of species identity and promotion of speciation. Male interspecific hybrids from crosses between Campbell's dwarf hamster (Phodopus campbelli) and the Djungarian hamster (P. sungorus) exhibit sterility with abnormal spermatogenesis. However, the meiotic phenotype of these hybrids has not been well described. In the present work, we observed the accumulation of spermatocytes and apoptosis of spermatocyte-like cells in the testes of hybrids between P. campbelli females and P. sungorus males. In hybrid spermatocytes, a high frequency of asynapsis of X and Y chromosomes during the pachytene-like stage and dissociation of these chromosomes during metaphase I (MI) was observed. No autosomal univalency was observed during pachytene-like and MI stages in the hybrids; however, a low frequency of synapsis between autosomes and X or Y chromosomes, interlocking and partial synapsis between autosomal pairs, and γ-H2AFX staining in autosomal chromatin was observed during the pachytene-like stage. Degenerated MI-like nuclei were frequently observed in the hybrids. Most of the spermatozoa in hybrid epididymides exhibited head malformation. These results indicate that the pairing of X and Y chromosomes is more adversely affected than that of autosomes in Phodopus hybrids. PMID:25801302

  12. Abnormalities of gonadal differentiation.

    PubMed

    Berkovitz, G D; Seeherunvong, T

    1998-04-01

    Gonadal differentiation involves a complex interplay of developmental pathways. The sex determining region Y (SRY) gene plays a key role in testis determination, but its interaction with other genes is less well understood. Abnormalities of gonadal differentiation result in a range of clinical problems. 46,XY complete gonadal dysgenesis is defined by an absence of testis determination. Subjects have female external genitalia and come to clinical attention because of delayed puberty. Individuals with 46,XY partial gonadal dysgenesis usually present in the newborn period for the valuation of ambiguous genitalia. Gonadal histology always shows an abnormality of seminiferous tubule formation. A diagnosis of 46,XY true hermaphroditism is made if the gonads contain well-formed testicular and ovarian elements. Despite the pivotal role of the SRY gene in testis development, mutations of SRY are unusual in subjects with a 46,XY karyotype and abnormal gonadal development. 46,XX maleness is defined by testis determination in an individual with a 46,XX karyotype. Most affected individuals have a phenotype similar to that of Klinefelter syndrome. In contrast, subjects with 46,XX true hermaphroditism usually present with ambiguous genitalia. The majority of subjects with 46,XX maleness have Y sequences including SRY in genomic DNA. However, only rare subjects with 46,XX true hermaphroditism have translocated sequences encoding SRY. Mosaicism and chimaerism involving the Y chromosome can also be associated with abnormal gonadal development. However, the vast majority of subjects with 45,X/46,XY mosaicism have normal testes and normal male external genitalia.

  13. Abnormal development of sensory-motor, visual temporal and parahippocampal cortex in children with learning disabilities and borderline intellectual functioning.

    PubMed

    Baglio, Francesca; Cabinio, Monia; Ricci, Cristian; Baglio, Gisella; Lipari, Susanna; Griffanti, Ludovica; Preti, Maria G; Nemni, Raffaello; Clerici, Mario; Zanette, Michela; Blasi, Valeria

    2014-01-01

    Borderline intellectual functioning (BIF) is a condition characterized by an intelligence quotient (IQ) between 70 and 85. BIF children present with cognitive, motor, social, and adaptive limitations that result in learning disabilities and are more likely to develop psychiatric disorders later in life. The aim of this study was to investigate brain morphometry and its relation to IQ level in BIF children. Thirteen children with BIF and 14 age- and sex-matched typically developing (TD) children were enrolled. All children underwent a full IQ assessment (WISC-III scale) and a magnetic resonance (MR) examination including conventional sequences to assess brain structural abnormalities and high resolution 3D images for voxel-based morphometry analysis. To investigate to what extent the group influenced gray matter (GM) volumes, both univariate and multivariate generalized linear model analysis of variance were used, and the varimax factor analysis was used to explore variable correlations and clusters among subjects. Results showed that BIF children, compared to controls have increased regional GM volume in bilateral sensorimotor and right posterior temporal cortices and decreased GM volume in the right parahippocampal gyrus. GM volumes were highly correlated with IQ indices. The present work is a case study of a group of BIF children showing that BIF is associated with abnormal cortical development in brain areas that have a pivotal role in motor, learning, and behavioral processes. Our findings, although allowing for little generalization to the general population, contribute to the very limited knowledge in this field. Future longitudinal MR studies will be useful in verifying whether cortical features can be modified over time even in association with rehabilitative intervention.

  14. Normal and abnormal development of pulmonary veins: state of the art and correlation with clinical entities.

    PubMed

    Douglas, Yvonne L; Jongbloed, Monique R M; Deruiter, Marco C; Gittenberger-de Groot, Adriana C

    2011-02-17

    Interest for the pulmonary veins has increased in the past decade after the potential arrhythmogenicity of the myocardial sleeve surrounding these structures has been recognized. Furthermore, there are several clinical entities, such as anomalous connection pattern and pulmonary vein stenosis, that are related to abnormal pulmonary vein development. In this review, we will describe current literature and aim to elucidate and reorganize current opinions on normal and abnormal pulmonary vein development in relation to clinical (management of) diseases. Several unresolved questions will be addressed, as well as current conceptual controversies. First, a general overview of development of structures at the venous pole of the heart, including normal development of the pulmonary vein from a primitive Anlage, will be provided. Recent insights indicate an important contributory role of the mesoderm behind the heart, the so-called second heart field, to this area. Subsequently, the formation of a myocardial and smooth muscle vascular wall of the pulmonary veins and the left atrium is described, as well as current insights in the mechanisms involved in the differentiation of these different cell types in this area. Next, developmental concepts of normal pulmonary venous drainage patterns are reviewed, and an overview is provided of clinical entities related to abnormal development at several anatomical levels. Lastly, attention is paid to arrhythmogenesis in relation to pulmonary vein development, as well the consequences for clinical management.

  15. Transition of care for adolescents with disorders of sex development.

    PubMed

    Crouch, Naomi S; Creighton, Sarah M

    2014-07-01

    Disorders of sex development (DSDs) continue to present many challenges. A clear consensus among clinicians has emerged in paediatric care; however, the same cannot be said of adult care services. Moreover, transition to adult care is a process that takes many years. Although evidence-based models of transitional care do exist in other medical specialities, few studies have been conducted in adolescents with DSDs, and a clear and pressing need exists for further research to guide the care of these patients. A general move towards independence and self-responsibility is common to all transition programmes, but specific issues for those with a DSD include disclosure, genital examinations and potential vaginal treatments. Psychological support underpins the whole transition process for patients with a DSD and encourages an individual approach to develop. In this Perspectives article, we describe the barriers to successful transition in this setting and outline suggestions to overcome them.

  16. Disorders of sex development: a new definition and classification.

    PubMed

    Hughes, Ieuan A

    2008-02-01

    A newborn infant with ambiguous genitalia is a complex enough problem to unravel without any further clouding by confusing terms. The nomenclature 'intersex', 'hermaphrodite' and 'pseudohermaphrodite' is anachronistic, unhelpful, and perceived to be pejorative by some affected families. In its place, a consensus statement recommends the term 'disorder of sex development' (DSD), a generic definition encompassing any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads. The karyotype is used as a prefix to define the category of DSD, replacing the arcane terminology of male or female pseudohermaphroditism (now known as XY DSD or XX DSD, respectively). The new nomenclature has spawned a simple and logical classification of the causes of DSD. In this chapter new facets of gonadal dysgenesis and novel defects in steroid biosynthesis are reviewed in relation to the DSD classification, and options for early, non-invasive fetal sexing are described. Future research to determine many causes of DSD will benefit from the use of this universal language of scientific communication.

  17. Sex Differences in Binge Eating: Gonadal Hormone Effects Across Development.

    PubMed

    Klump, Kelly L; Culbert, Kristen M; Sisk, Cheryl L

    2017-03-16

    Eating disorders are highly sexually differentiated disorders that exhibit a female predominance in risk. Most theories focus on psychosocial explanations to the exclusion of biological/genetic influences. The purpose of this descriptive review is to evaluate evidence from animal and human studies in support of gonadal hormone effects on sex differences in binge eating. Although research is in its nascent stages, findings suggest that increased prenatal testosterone exposure in males appears to protect against binge eating. Although pubertal testosterone may exert additional protective effects, the prenatal period is likely critical for the decreased risk observed in males. By contrast, studies indicate that in females it is the lack of prenatal testosterone coupled with the organizational effects of pubertal ovarian hormones that may lead to increased binge eating. Finally, twin data suggest that changes in genetic risk may underlie these hormone influences on sex differences across development. Expected final online publication date for the Annual Review of Clinical Psychology Volume 13 is May 7, 2017. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

  18. Overexpression of Anti-Müllerian Hormone Disrupts Gonadal Sex Differentiation, Blocks Sex Hormone Synthesis, and Supports Cell Autonomous Sex Development in the Chicken.

    PubMed

    Lambeth, Luke S; Morris, Kirsten; Ayers, Katie L; Wise, Terry G; O'Neil, Terri; Wilson, Susanne; Cao, Yu; Sinclair, Andrew H; Cutting, Andrew D; Doran, Timothy J; Smith, Craig A

    2016-03-01

    The primary role of Anti-Müllerian hormone (AMH) during mammalian development is the regression of Müllerian ducts in males. This highly conserved function is retained in birds and is supported by the high levels of AMH expression in developing testes. Mammalian AMH expression is regulated by a combination of transcription factors, the most important being Sry-type high-mobility-group box transcription factor-9 (SOX9). In the chicken embryo, however, AMH mRNA expression precedes that of SOX9, leading to the view that AMH may play a more central role in avian testicular development. To define its role in chicken gonadal development, AMH was overexpressed using the RCASBP viral vector. AMH caused the gonads of both sexes to develop as small and undeveloped structures at both embryonic and adult stages. Molecular analysis revealed that although female gonads developed testis-like cords, gonads lacked Sertoli cells and were incapable of steroidogenesis. A similar gonadal phenotype was also observed in males, with a complete loss of both Sertoli cells, disrupted SOX9 expression and gonadal steroidogenesis. At sexual maturity both sexes showed a female external phenotype but retained sexually dimorphic body weights that matched their genetic sexes. These data suggest that AMH does not operate as an early testis activator in the chicken but can affect downstream events, such as sex steroid hormone production. In addition, this study provides a unique opportunity to assess chicken sexual development in an environment of sex hormone deficiency, demonstrating the importance of both hormonal signaling and direct cell autonomous factors for somatic sex identity in birds.

  19. Sex-specific gonadal and gene expression changes throughout development in fathead minnow

    EPA Science Inventory

    Although fathead minnows (Pimephales promelas) are commonly used as a model fish in endocrine disruption studies, none have characterized sex-specific baseline expression of genes involved in sex differentiation during development in this species. Using a sex-linked DNA marker t...

  20. Links Between Sex-Typed Time Use in Middle Childhood and Gender Development in Early Adolescence

    ERIC Educational Resources Information Center

    McHale, Susan M.; Kim, Ji-Yeon; Whiteman, Shawn; Crouter, Ann C.

    2004-01-01

    The authors studied sex-typing in the kinds (e.g., sports, handicrafts) and social contexts (same- vs. other-sex companions) of children's free time activities, and the links between sex-typed activities and gender development over 2 years. Participants were 200 White, working- and middle-class children (103 girls, 97 boys; mean age = 10.86…

  1. Cranial index of children with normal and abnormal brain development in Sokoto, Nigeria: A comparative study

    PubMed Central

    Musa, Muhammad Awwal; Zagga, Abdullahi Daudu; Danfulani, Mohammed; Tadros, Aziz Abdo; Ahmed, Hamid

    2014-01-01

    Background: Abnormal brain development due to neurodevelopmental disorders in children has always been an important concern, but yet has to be considered as a significant public health problem, especially in the low- and middle-income countries including Nigeria. Aims: The aim of this study is to determine whether abnormal brain development in the form of neurodevelopmental disorders causes any deviation in the cranial index of affected children. Materials and Methods: This is a comparative study on the head length, head width, and cranial index of 112 children (72 males and 40 females) diagnosed with at least one abnormal problem in brain development, in the form of a neurodevelopmental disorder (NDD), in comparison with that of 218 normal growing children without any form of NDD (121 males and 97 females), aged 0-18 years old seen at the Usmanu Danfodiyo University Teaching Hospital, Sokoto, over a period of six months, June to December, 2012. The head length and head width of the children was measured using standard anatomical landmarks and cranial index calculated. The data obtained was entered into the Microsoft excel worksheet and analyzed using SPSS version 17. Results: The mean Cephalic Index for normal growing children with normal brain development was 79.82 ± 3.35 and that of the children with abnormal brain development was 77.78 ± 2.95 and the difference between the two groups was not statistically significant (P > 0.05). Conclusion: It can be deduced from this present study that the cranial index does not change in children with neurodevelopmental disorders. PMID:24966551

  2. The development of Akabane virus-induced congenital abnormalities in cattle.

    PubMed

    Kirkland, P D; Barry, R D; Harper, P A; Zelski, R Z

    1988-06-11

    A prospective study of the incidence and severity of congenital deformities of calves, attributable to maternal infection by Akabane virus, was carried out on a population of 174 susceptible animals that were between one and nine months pregnant at the time of infection. The study was carried out in the Hunter Valley of New South Wales during 1983, after an epidemic of Akabane virus infection in late February to early March 1983. The incidence of virus-induced abnormalities in calves and fetuses was 17.8 per cent (31/174). The highest incidence of abnormalities occurred during the third and sixth months of gestation (27 to 29 per cent). The earliest abnormality was observed after infection at 76 days of gestation, and the last after infection at 249 days. The development of the pathological entities of hydranencephaly/porencephaly and arthrogryposis were found to be quite distinct. Cases of hydranencephaly and porencephaly developed after infection between 76 and 104 days of gestation whereas arthrogryposis developed after infection between 103 and 174 days of infection. It was concluded that the type of congenital deformity produced by maternal infection with Akabane virus was dependent on the stage of fetal development at the time of infection. The data suggest that the infection was transplacental and that fetuses of less than two months of age were protected from infection.

  3. mTOR signaling and its roles in normal and abnormal brain development.

    PubMed

    Takei, Nobuyuki; Nawa, Hiroyuki

    2014-01-01

    Target of rapamycin (TOR) was first identified in yeast as a target molecule of rapamycin, an anti-fugal and immunosuppressant macrolide compound. In mammals, its orthologue is called mammalian TOR (mTOR). mTOR is a serine/threonine kinase that converges different extracellular stimuli, such as nutrients and growth factors, and diverges into several biochemical reactions, including translation, autophagy, transcription, and lipid synthesis among others. These biochemical reactions govern cell growth and cause cells to attain an anabolic state. Thus, the disruption of mTOR signaling is implicated in a wide array of diseases such as cancer, diabetes, and obesity. In the central nervous system, the mTOR signaling cascade is activated by nutrients, neurotrophic factors, and neurotransmitters that enhances protein (and possibly lipid) synthesis and suppresses autophagy. These processes contribute to normal neuronal growth by promoting their differentiation, neurite elongation and branching, and synaptic formation during development. Therefore, disruption of mTOR signaling may cause neuronal degeneration and abnormal neural development. While reduced mTOR signaling is associated with neurodegeneration, excess activation of mTOR signaling causes abnormal development of neurons and glia, leading to brain malformation. In this review, we first introduce the current state of molecular knowledge of mTOR complexes and signaling in general. We then describe mTOR activation in neurons, which leads to translational enhancement, and finally discuss the link between mTOR and normal/abnormal neuronal growth during development.

  4. Disorders of sex development presenting as unilateral cryptorchidism.

    PubMed

    Østergren, Peter; Juul, Anders; Azawi, Nessn H

    2013-10-01

    Disorders of sex development (DSD) present in different forms but, in most cases, with visible anomalies of the external genitalia. The diagnosis of DSD can have a vast impact on an individual; in addition to concerns about fertility and a higher risk of neoplasia, it may have severe psychosocial impact on the patient. This report presents two apparently healthy cases referred for operation because of unilateral undescended testis. In these two patients, uterine remnants were found during the operation, and underlying DSD conditions were unexpectedly diagnosed. One patient had a 45,X/46,XY mosaic karyotype, while the second patient had persistent müllerian duct syndrome, probably due to an anti-müllerian hormone receptor defect. Both conditions are extremely rare, but the findings reinforce that DSD should be considered in patients with cryptorchidism, especially if other clinical signs are present.

  5. Inhibitors of sex hormones: development of experimental models.

    PubMed

    Frost, P; Gomez, E C

    1972-01-01

    Inhibitors of sex hormones and the development of experimental models are discussed. Compounds that inhibit the action of androgens and estrogens are defined, and the possible mechanisms of action presented are: 1) inhibition of hormone synthesis; 2) inhibition of uptake of hormone into target tissues; 3) inhibition of the retention of hormone in target tissues; 4) inhibition of the binding of hormone to nonenzyme macromolecules; and 5) inhibition of the metabolism of a hormone to a more active form. Effects of antiandrogen on skin such as hirsutism, sebum production, and acne are briefly covered. Methods of study included inhibition of in vitro metabolism of testosterone by human foreskin and the use of the hamster flank organ for the bioassay of antiandrogens.

  6. The development of sex role stereotypes in the third year: relationships to gender labeling, gender identity, sex-typed toy preference, and family characteristics.

    PubMed

    Weinraub, M; Clemens, L P; Sockloff, A; Ethridge, T; Gracely, E; Myers, B

    1984-08-01

    The onset and development of preschoolers' awareness of sex role stereotypes, gender labeling, gender identity, and sex-typed toy preference were explored in 26-, 31-, and 36-month-old children. Gender labeling, gender identity, sex-typed toy preferences, and awareness of adult sex role differences were observed in significantly more 26-month-old children than would have been expected by chance. Verbal gender labeling was observed in a majority of 26-month-olds, while verbal and nonverbal gender identity were observed in a majority of 31-month-olds. Nonverbal gender labeling and awareness of adult sex role differences were observed in a majority of children by 36 months. No evidence of awareness of sex differences in children's toys was found in the majority of children at any age. Awareness of sex role differences in children's toys was not related to awareness of adult sex role differences. Brighter children were more aware of adult sex role differences. Sex-typed toy preference was not related to awareness of sex role differences but was related to gender identity. Predictors of sex role development included the mothers' employment, and the father's personality traits, attitudes toward women, and sex-typed activities in the home. Implications for theories of early sex role development are discussed.

  7. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

    PubMed

    White, Stefan; Ohnesorg, Thomas; Notini, Amanda; Roeszler, Kelly; Hewitt, Jacqueline; Daggag, Hinda; Smith, Craig; Turbitt, Erin; Gustin, Sonja; van den Bergen, Jocelyn; Miles, Denise; Western, Patrick; Arboleda, Valerie; Schumacher, Valerie; Gordon, Lavinia; Bell, Katrina; Bengtsson, Henrik; Speed, Terry; Hutson, John; Warne, Garry; Harley, Vincent; Koopman, Peter; Vilain, Eric; Sinclair, Andrew

    2011-03-07

    Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identified in these developmental pathways, the causative mutations have not been identified in more than 50% 46,XY DSD cases. We used the Affymetrix Genome-Wide Human SNP Array 6.0 to analyse copy number variation in 23 individuals with unexplained 46,XY DSD due to gonadal dysgenesis (GD). Here we describe three discrete changes in copy number that are the likely cause of the GD. Firstly, we identified a large duplication on the X chromosome that included DAX1 (NR0B1). Secondly, we identified a rearrangement that appears to affect a novel gonad-specific regulatory region in a known testis gene, SOX9. Surprisingly this patient lacked any signs of campomelic dysplasia, suggesting that the deletion affected expression of SOX9 only in the gonad. Functional analysis of potential SRY binding sites within this deleted region identified five putative enhancers, suggesting that sequences additional to the known SRY-binding TES enhancer influence human testis-specific SOX9 expression. Thirdly, we identified a small deletion immediately downstream of GATA4, supporting a role for GATA4 in gonad development in humans. These CNV analyses give new insights into the pathways involved in human gonad development and dysfunction, and suggest that rearrangements of non-coding sequences disturbing gene regulation may account for significant proportion of DSD cases.

  8. Human sex-determination and disorders of sex-development (DSD).

    PubMed

    Bashamboo, Anu; McElreavey, Ken

    2015-09-01

    Several new genes and pathways have been identified in recent years associated with human errors of sex-determination or DSD. SOX family gene mutations, as well as mutations involving GATA4, FOG2 and genes involved in MAP kinase signaling have been associated with virilization in 46,XX individuals or with 46,XY gonadal dysgenesis. Furthermore, mutations involving another key gene in sex-determination, NR5A1, are now known to be an important cause spermatogenic failure in the male and ovarian insufficiency in the female. These new findings offer insights into human sex-determination and highlight important differences between the human and mouse model. This review will critically examine the evidence linking gene mutations, especially MAP3K1, to non-syndromic forms of human 46,XY gonadal dysgenesis or XX testicular/ovotesticular.

  9. Thoughts on the nature of identity: disorders of sex development and gender identity.

    PubMed

    Reiner, William G; Reiner, D Townsend

    2011-10-01

    Children with disorders of sex development have similarities to, but also marked contrasts with, children with normal anatomy but who have gender dysphoria. Understanding gender identity development in children with sex disorders will probably help us understand typical gender identity development more than in understanding gender development in children with gender identity disorder.

  10. Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice

    PubMed Central

    Borghesani, Paul R.; Alt, Frederick W.; Bottaro, Andrea; Davidson, Laurie; Aksoy, Saime; Rathbun, Gary A.; Roberts, Thomas M.; Swat, Wojciech; Segal, Rosalind A.; Gu, Yansong

    2000-01-01

    Motor incoordination, immune deficiencies, and an increased risk of cancer are the characteristic features of the hereditary disease ataxia–telangiectasia (A-T), which is caused by mutations in the ATM gene. Through gene targeting, we have generated a line of Atm mutant mice, Atmy/y mice. In contrast to other Atm mutant mice, Atmy/y mice show a lower incidence of thymic lymphoma and survive beyond a few months of age. Atmy/y mice exhibit deficits in motor learning indicative of cerebellar dysfunction. Even though we found no gross cerebellar degeneration in older Atmy/y animals, ectopic and abnormally differentiated Purkinje cells were apparent in mutant mice of all ages. These findings establish that some neuropathological abnormalities seen in A-T patients also are present in Atm mutant mice. In addition, we report a previously unrecognized effect of Atm deficiency on development or maintenance of CD4+8+ thymocytes. We discuss these findings in the context of the hypothesis that abnormal development of Purkinje cells and lymphocytes contributes to the pathogenesis of A-T. PMID:10716718

  11. The Development of Sex-Related Differences in Achievement.

    ERIC Educational Resources Information Center

    Petersen, Anne C.

    Although sex differences in research have received considerable attention, few researchers have examined the bias, social context, and process of that research. In analyzing sex differences in academic achievement over the past 10 years, three areas (mathematics, spatial ability, and verbal ability) would appear to establish consistent sex…

  12. Adolescents' Lifetime Experience of Selling Sex: Development over Five Years

    ERIC Educational Resources Information Center

    Fredlund, Cecilia; Svensson, Frida; Svedin, Carl Goran; Priebe, Gisela; Wadsby, Marie

    2013-01-01

    Lifetime experience of selling sex among adolescents was investigated together with sociodemographic correlates, parent-child relationship, and the existence of people to confide in. Changes over time regarding the selling of sex were investigated through a comparison of data from 2004 and 2009. This study was carried out using 3,498 adolescents…

  13. Sex chromosome complement determines sex differences in aromatase expression and regulation in the stria terminalis and anterior amygdala of the developing mouse brain.

    PubMed

    Cisternas, Carla D; Tome, Karina; Caeiro, Ximena E; Dadam, Florencia M; Garcia-Segura, Luis M; Cambiasso, María J

    2015-10-15

    Aromatase, which converts testosterone in estradiol, is involved in the generation of brain sex dimorphisms. Here we used the "four core genotypes" mouse model, in which the effect of gonadal sex and sex chromosome complement is dissociated, to determine if sex chromosomes influence the expression of brain aromatase. The brain of 16 days old XY mouse embryos showed higher aromatase expression in the stria terminalis and the anterior amygdaloid area than the brain of XX embryos, independent of gonadal sex. Furthermore, estradiol or dihydrotestosterone increased aromatase expression in cultures of anterior amygdala neurons derived from XX embryos, but not in those derived from XY embryos. This effect was also independent of gonadal sex. The expression of other steroidogenic molecules, estrogen receptor-α and androgen receptor was not influenced by sex chromosomes. In conclusion, sex chromosomes determine sex dimorphisms in aromatase expression and regulation in the developing mouse brain.

  14. [Intersex and differences of sex development: background, diagnostics, and concepts of care].

    PubMed

    Holterhus, P-M

    2013-12-01

    Intersex is an inherited incongruence of chromosomal, gonadal, and genital sexual characteristics. A typical clinical situation of intersex is the ambiguous genitalia in the newborn. Diagnostics, counseling, and therapy should be offered by specialized multidisciplinary health-care teams. The focus is not only on medical issues but also on psychological, social, and ethical aspects. In the international literature, intersex is now termed "disorders of sex development" (DSD). Alternatively, some authors use "differences of sex development" to underline that patients do not necessarily feel they have a "disorder" but rather a "difference" of sex development compared with normal sex development.

  15. Sleep and Sex: What Can Go Wrong? A Review of the Literature on Sleep Related Disorders and Abnormal Sexual Behaviors and Experiences

    PubMed Central

    Schenck, Carlos H.; Arnulf, Isabelle; Mahowald, Mark W.

    2007-01-01

    stage 1 sleep/wakefulness in one case (with sex provoked by the bed partner). Confusional arousals (CAs) were diagnosed as the cause of “sleepsex” (“sexsomnia”) in 26 cases (with obstructive sleep apnea [OSA] comorbidity in 4 cases), and sleepwalking in 2 cases, totaling 90.3% (28/31) of cases being NREM sleep parasomnias. REM behavior disorder was the presumed cause in the other 3 cases. Bedtime clonazepam therapy was effective in 90% (9/10) of treated parasomnia cases; nasal continuous positive airway pressure therapy was effective in controlling comorbid OSA and CAs in both treated cases. All five treated patients with sleep related sexual seizures responded to anticonvulsant therapy. The hypersexuality in KLS, which was twice as common in males compared to females, had no reported effective therapy. Conclusions: A broad range of sleep related disorders associated with abnormal sexual behaviors and experiences exists, with major clinical and forensic consequences. Citation: Schenck CH; Arnulf I; Mahowald MW et al. Sleep and sex: what can go wrong? A review of the literature on sleep related disorders and abnormal sexual behaviors and experiences. SLEEP 2007;30(6):683-702. PMID:17580590

  16. Next generation sequencing for disorders of sex development.

    PubMed

    Tobias, Edward S; McElreavey, Ken

    2014-01-01

    Advances in sequencing technologies are having a major impact on our understanding of the genetic causes of many human congenital disorders. Next generation sequencing (NGS) approaches are particularly important for determining the inherited genetic changes leading to disorders of sex development (DSD). Knowledge of the genetic pathways involved in ovary or testis development is incomplete and, currently, a molecular diagnosis is made in a minority of DSD cases. Here, we review the different NGS strategies applied to the analysis of rare diseases and highlight the potential pitfalls and advantages that are associated with each approach. We also discuss the problems of variant calling as well as the challenges involved in the identification and interpretation of pathogenic mutations from NGS datasets. As clinics start to use NGS on a routine basis, a close collaboration between the molecular and clinical geneticists is essential. This is particularly relevant in the context of unsolicited genetic findings, where clear guidelines regarding counseling, truly informed consent and precise data interpretation will be invaluable.

  17. Disorders of Sex Development (DSD): Networking and Standardization Considerations.

    PubMed

    Sandberg, D E; Callens, N; Wisniewski, A B

    2015-05-01

    Syndromes resulting in Disorders of Sex Development (DSD) are individually rare. Historically, this fact has hindered both clinical research and the delivery of evidence-based care. Recognizing the need for advancement, members of European and North American medical societies produced policy statements, notably the Consensus Statement on Management of Intersex Disorders, which recognize that optimal healthcare in DSD requires multidisciplinary teams in conjunction with networking of treatment centers and continued development of patient registries. This paper summarizes efforts in Europe and the U.S. toward creating networks focused on expanding discovery and improving healthcare and quality of life outcomes in DSD. The objectives and function of registry-based networks (EuroDSD/I-DSD), learning collaboratives (DSD-net), clinical outcomes research (DSD-Life), and networking hybrids (DSD-TRN) are reviewed. Opportunities for, and barriers to standardization in research and care are highlighted in light of practical considerations, for example, limitations in reliably classifying anatomic phenotypes and gaps in behavioral health staffing resources. The role of patient-reported outcomes is considered, with emphasis on integrating patient perspectives, given findings of limited agreement in outcome ratings by healthcare providers and patients. Finally, the characteristics of clinical centers likely to deliver the highest quality outcomes are discussed.

  18. Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development.

    PubMed

    Bramble, Matthew S; Lipson, Allen; Vashist, Neerja; Vilain, Eric

    2017-01-02

    Sex differences in brain development and postnatal behavior are determined largely by genetic sex and in utero gonadal hormone secretions. In humans however, determining the weight that each of these factors contributes remains a challenge because social influences should also be considered. Cases of disorders of sex development (DSD) provide unique insight into how mutations in genes responsible for gonadal formation can perturb the subsequent developmental hormonal milieu and elicit changes in normal human brain maturation. Specific forms of DSDs such as complete androgen insensitivity syndrome (CAIS), congenital adrenal hyperplasia (CAH), and 5α-reductase deficiency syndrome have variable effects between males and females, and the developmental outcomes of such conditions are largely dependent on sex chromosome composition. Medical and psychological works focused on CAH, CAIS, and 5α-reductase deficiency have helped form the foundation for understanding the roles of genetic and hormonal factors necessary for guiding human brain development. Here we highlight how the three aforementioned DSDs contribute to brain and behavioral phenotypes that can uniquely affect 46,XY and 46,XX individuals in dramatically different fashions. © 2016 Wiley Periodicals, Inc.

  19. People with Intellectual Disabilities Talk About Sexuality: Implications for the Development of Sex Education.

    PubMed

    Schaafsma, D; Kok, G; Stoffelen, J M T; Curfs, L M G

    2017-01-01

    Existing sex education programmes have failed in involving people with intellectual disabilities in the development of these programmes. Not involving the target population decreases the likelihood that the sex education programme will be effective. This study was conducted to assess the perspectives of people with intellectual disabilities on several sexuality-related topics. Semi-structured interviews were held with 20 people with intellectual disabilities covering topics such as: sex education, relationships, sex, social media, parenthood and support. The reported frequency of sex education the participants receive is low. Their knowledge regarding sex education is mainly limited to topics such as safe sex, contraception and STI's and tends to be superficial. Additionally, knowledge on safe sex does not always translate to safe sex behaviour. Finally, relationships are important for most participants; mainly because they don't want to be alone. Findings from both this study and literature shows that there seems to be a need for high quality sex education. Topics to consider to include are: online relationships, social media and parenthood. It would also be beneficial to focus on sexuality-related skills. Finally, to increase the effectiveness of a sex education programme, it is advisable that a theory-and evidence-based framework, such as Intervention Mapping, is used for its development.

  20. Sex role identity in young adults: its parental antecedents and relation to ego development.

    PubMed

    Costos, D

    1986-03-01

    This study, inspired by Block's (1973) work, was designed to enable one to examine how ego development and socialization experience interact in relation to sex role identity. Sex role identity was measured via the Bem Sex Role Inventory, and socialization practices were measured via the Block Child-Rearing Practices Report. Both measures were scaled so as to yield scores on agency, communion, and androgyny. Ego development was assessed via Loevinger's Sentence Completion Test of Ego Development. The sample consisted of 120 young adult men and women, married and single. Analyses revealed that the predictive power of the variables differed by sex. Ego development was predictive of sex role identity in men but not women, whereas socialization practices were predictive of sex role identity in women but not men. The results were seen as supporting Chodorow's (1974) position regarding the differing socialization experiences of men and women.

  1. The development of hepatic stellate cells in normal and abnormal human fetuses – an immunohistochemical study

    PubMed Central

    Loo, Christine K C; Pereira, Tamara N; Pozniak, Katarzyna N; Ramsing, Mette; Vogel, Ida; Ramm, Grant A

    2015-01-01

    The precise embryological origin and development of hepatic stellate cells is not established. Animal studies and observations on human fetuses suggest that they derive from posterior mesodermal cells that migrate via the septum transversum and developing diaphragm to form submesothelial cells beneath the liver capsule, which give rise to mesenchymal cells including hepatic stellate cells. However, it is unclear if these are similar to hepatic stellate cells in adults or if this is the only source of stellate cells. We have studied hepatic stellate cells by immunohistochemistry, in developing human liver from autopsies of fetuses with and without malformations and growth restriction, using cellular Retinol Binding Protein-1 (cRBP-1), Glial Fibrillary Acidic Protein (GFAP), and α-Smooth Muscle Actin (αSMA) antibodies, to identify factors that influence their development. We found that hepatic stellate cells expressing cRBP-1 are present from the end of the first trimester of gestation and reduce in density throughout gestation. They appear abnormally formed and variably reduced in number in fetuses with abnormal mesothelial Wilms Tumor 1 (WT1) function, diaphragmatic hernia and in ectopic liver nodules without mesothelium. Stellate cells showed similarities to intravascular cells and their presence in a fetus with diaphragm agenesis suggests they may be derived from circulating stem cells. Our observations suggest circulating stem cells as well as mesothelium can give rise to hepatic stellate cells, and that they require normal mesothelial function for their development. PMID:26265759

  2. Sry and SoxE genes: How they participate in mammalian sex determination and gonadal development?

    PubMed

    She, Zhen-Yu; Yang, Wan-Xi

    2017-03-01

    In mammals, sex determination defines the differentiation of the bipotential genital ridge into either testes or ovaries. Sry, the mammalian Y-chromosomal testis-determining gene, is a master regulator of male sex determination. It acts to switch the undifferentiated genital ridge towards testis development, triggering the adoption of a male fate. Sry initiates a cascade of gene networks through the direct regulation of Sox9 expression and promotes supporting cell differentiation, Leydig cell specification, vasculature formation and testis cord development. In the absence of Sry, alternative genetic cascades, including female sex-determining genes RSPO1, Wnt4/β-catenin and Foxl2, are involved in the formation of female genitalia and the maintenance of female ovarian development. The mutual antagonisms between male and female sex-determining pathways are crucial in not just the initiation but also the maintenance of the somatic sex of the gonad throughout the organism's lifetime. Any imbalances in above sex-determining genes can cause disorders of sex development in humans and mice. In this review, we provide a detailed summary of the expression profiles, biochemical properties and developmental functions of Sry and SoxE genes in embryonic testis development and adult gonadal development. We also briefly summarize the dedicate balances between male and female sex-determining genes in mammalian sex development, with particular highlights on the molecular actions of Sry and Sox9 transcription factors.

  3. Stochastic anomaly of methylome but persistent SRY hypermethylation in disorder of sex development in canine somatic cell nuclear transfer

    PubMed Central

    Jeong, Young-Hee; Lu, Hanlin; Park, Chi-Hun; Li, Meiyan; Luo, Huijuan; Kim, Joung Joo; Liu, Siyang; Ko, Kyeong Hee; Huang, Shujia; Hwang, In Sung; Kang, Mi Na; Gong, Desheng; Park, Kang Bae; Choi, Eun Ji; Park, Jung Hyun; Jeong, Yeon Woo; Moon, Changjong; Hyun, Sang-Hwan; Kim, Nam Hyung; Jeung, Eui-Bae; Yang, Huanming; Hwang, Woo Suk; Gao, Fei

    2016-01-01

    Somatic cell nuclear transfer (SCNT) provides an excellent model for studying epigenomic reprogramming during mammalian development. We mapped the whole genome and whole methylome for potential anomalies of mutations or epimutations in SCNT-generated dogs with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of sex development (DSD). Whole genome sequencing revealed no potential genomic variations that could explain the pathogenesis of DSD. However, extensive but stochastic anomalies of genome-wide DNA methylation were discovered in these SCNT DSD dogs. Persistent abnormal hypermethylation of the SRY gene was observed together with its down-regulated mRNA and protein expression. Failure of SRY expression due to hypermethylation was further correlated with silencing of a serial of testis determining genes, including SOX9, SF1, SOX8, AMH and DMRT1 in an early embryonic development stage at E34 in the XYDSD gonad, and high activation of the female specific genes, including FOXL2, RSPO1, CYP19A1, WNT4, ERα and ERβ, after one postnatal year in the ovotestis. Our results demonstrate that incomplete demethylation on the SRY gene is the driving cause of XYDSD in these XY DSD dogs, indicating a central role of epigenetic regulation in sex determination. PMID:27501986

  4. Stochastic anomaly of methylome but persistent SRY hypermethylation in disorder of sex development in canine somatic cell nuclear transfer.

    PubMed

    Jeong, Young-Hee; Lu, Hanlin; Park, Chi-Hun; Li, Meiyan; Luo, Huijuan; Kim, Joung Joo; Liu, Siyang; Ko, Kyeong Hee; Huang, Shujia; Hwang, In Sung; Kang, Mi Na; Gong, Desheng; Park, Kang Bae; Choi, Eun Ji; Park, Jung Hyun; Jeong, Yeon Woo; Moon, Changjong; Hyun, Sang-Hwan; Kim, Nam Hyung; Jeung, Eui-Bae; Yang, Huanming; Hwang, Woo Suk; Gao, Fei

    2016-08-09

    Somatic cell nuclear transfer (SCNT) provides an excellent model for studying epigenomic reprogramming during mammalian development. We mapped the whole genome and whole methylome for potential anomalies of mutations or epimutations in SCNT-generated dogs with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of sex development (DSD). Whole genome sequencing revealed no potential genomic variations that could explain the pathogenesis of DSD. However, extensive but stochastic anomalies of genome-wide DNA methylation were discovered in these SCNT DSD dogs. Persistent abnormal hypermethylation of the SRY gene was observed together with its down-regulated mRNA and protein expression. Failure of SRY expression due to hypermethylation was further correlated with silencing of a serial of testis determining genes, including SOX9, SF1, SOX8, AMH and DMRT1 in an early embryonic development stage at E34 in the XY(DSD) gonad, and high activation of the female specific genes, including FOXL2, RSPO1, CYP19A1, WNT4, ERα and ERβ, after one postnatal year in the ovotestis. Our results demonstrate that incomplete demethylation on the SRY gene is the driving cause of XY(DSD) in these XY DSD dogs, indicating a central role of epigenetic regulation in sex determination.

  5. A mechanical model predicts morphological abnormalities in the developing human brain.

    PubMed

    Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

    2014-07-10

    The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism.

  6. A mechanical model predicts morphological abnormalities in the developing human brain

    PubMed Central

    Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

    2014-01-01

    The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism. PMID:25008163

  7. A mechanical model predicts morphological abnormalities in the developing human brain

    NASA Astrophysics Data System (ADS)

    Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

    2014-07-01

    The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism.

  8. Disorders of sex development: effect of molecular diagnostics.

    PubMed

    Achermann, John C; Domenice, Sorahia; Bachega, Tania A S S; Nishi, Mirian Y; Mendonca, Berenice B

    2015-08-01

    Disorders of sex development (DSDs) are a diverse group of conditions that can be challenging to diagnose accurately using standard phenotypic and biochemical approaches. Obtaining a specific diagnosis can be important for identifying potentially life-threatening associated disorders, as well as providing information to guide parents in deciding on the most appropriate management for their child. Within the past 5 years, advances in molecular methodologies have helped to identify several novel causes of DSDs; molecular tests to aid diagnosis and genetic counselling have now been adopted into clinical practice. Occasionally, genetic profiling of embryos prior to implantation as an adjunct to assisted reproduction, prenatal diagnosis of at-risk pregnancies and confirmatory testing of positive results found during newborn biochemical screening are performed. Of the available genetic tests, the candidate gene approach is the most popular. New high-throughput DNA analysis could enable a genetic diagnosis to be made when the aetiology is unknown or many differential diagnoses are possible. Nonetheless, concerns exist about the use of genetic tests. For instance, a diagnosis is not always possible even using new molecular approaches (which can be worrying for the parents) and incidental information obtained during the test might cause anxiety. Careful selection of the genetic test indicated for each condition remains important for good clinical practice. The purpose of this Review is to describe advances in molecular biological techniques for diagnosing DSDs.

  9. Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice

    PubMed Central

    Zhang, Jian-Hua; Pandey, Mritunjay; Seigneur, Erica M.; Panicker, Leelamma M.; Koo, Lily; Schwartz, Owen M.; Chen, Weiping; Chen, Ching-Kang; Simonds, William F.

    2011-01-01

    Gβ5 is a divergent member of the signal-transducing G protein β subunit family encoded by GNB5 and expressed principally in brain and neuronal tissue. Among heterotrimeric Gβ isoforms, Gβ5 is unique in its ability to heterodimerize with members of the R7 subfamily of the regulator of G protein signaling (RGS) proteins that contain G protein-γ like domains. Previous studies employing Gnb5 knockout (KO) mice have shown that Gβ5 is an essential stabilizer of such RGS proteins and regulates the deactivation of retinal phototransduction and the proper functioning of retinal bipolar cells. However, little is known of the function of Gβ5 in the brain outside the visual system. We show here that mice lacking Gβ5 have a markedly abnormal neurologic phenotype that includes impaired development, tiptoe-walking, motor learning and coordination deficiencies, and hyperactivity. We further show that Gβ5-deficient mice have abnormalities of neuronal development in cerebellum and hippocampus. We find that the expression of both mRNA and protein from multiple neuronal genes is dysregulated in Gnb5 KO mice. Taken together with previous observations from Gnb5 KO mice, our findings suggest a model in which Gβ5 regulates dendritic arborization and/or synapse formation during development, in part by effects on gene expression. PMID:21883221

  10. Transcriptome Analysis for Abnormal Spike Development of the Wheat Mutant dms

    PubMed Central

    Zhu, Xin-Xin; Li, Qiao-Yun; Shen, Chun-Cai; Duan, Zong-Biao; Yu, Dong-Yan; Niu, Ji-Shan; Ni, Yong-Jing; Jiang, Yu-Mei

    2016-01-01

    Background Wheat (Triticum aestivum L.) spike development is the foundation for grain yield. We obtained a novel wheat mutant, dms, characterized as dwarf, multi-pistil and sterility. Although the genetic changes are not clear, the heredity of traits suggests that a recessive gene locus controls the two traits of multi-pistil and sterility in self-pollinating populations of the medium plants (M), such that the dwarf genotype (D) and tall genotype (T) in the progeny of the mutant are ideal lines for studies regarding wheat spike development. The objective of this study was to explore the molecular basis for spike abnormalities of dwarf genotype. Results Four unigene libraries were assembled by sequencing the mRNAs of the super-bulked differentiating spikes and stem tips of the D and T plants. Using integrative analysis, we identified 419 genes highly expressed in spikes, including nine typical homeotic genes of the MADS-box family and the genes TaAP2, TaFL and TaDL. We also identified 143 genes that were significantly different between young spikes of T and D, and 26 genes that were putatively involved in spike differentiation. The result showed that the expression levels of TaAP1-2, TaAP2, and other genes involved in the majority of biological processes such as transcription, translation, cell division, photosynthesis, carbohydrate transport and metabolism, and energy production and conversion were significantly lower in D than in T. Conclusions We identified a set of genes related to wheat floral organ differentiation, including typical homeotic genes. Our results showed that the major causal factors resulting in the spike abnormalities of dms were the lower expression homeotic genes, hormonal imbalance, repressed biological processes, and deficiency of construction materials and energy. We performed a series of studies on the homeotic genes, however the other three causal factors for spike abnormal phenotype of dms need further study. PMID:26982202

  11. Early Childhood Sexual Development and Sex Education: A Survey of Attitudes of Nursery School Teachers.

    ERIC Educational Resources Information Center

    Kakavoulis, Alexandros

    1998-01-01

    Administered a questionnaire with closed and open questions on sexual development and sex education to 284 experienced preschool teachers in Greece. Findings indicated that the teachers feel that sexual development constitutes an important aspect of children's personality, and that sex education should start at an early age. (EV)

  12. Female Early Adolescent Sex Role Attitude and Behavior Development: A Life Span, Ecosystem Approach.

    ERIC Educational Resources Information Center

    Nelson, Christine Seipke; Keith, Joanne

    Theory and research related to early adolescent sex role development needs to be addressed from both a life-span and an ecological perspective. A study was conducted to examine the development of female early adolescent sex role attitudes and behaviors in an ecological context as defined by Urie Bronfenbrenner. Data were the results of a…

  13. Congenital Abnormalities

    MedlinePlus

    ... Listen Español Text Size Email Print Share Congenital Abnormalities Page Content Article Body About 3% to 4% ... of congenital abnormalities earlier. 5 Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic ...

  14. Sex, drugs and sports: prostaglandins, epitestosterone and sexual development.

    PubMed

    Sanders, Bryan K

    2007-01-01

    Amateau and McCarthy's findings published in Nature Neuroscience (June 2004) are noteworthy for suggesting a role for prostaglandins in sexual development. However, evidence suggests that in manipulating PGE2, they unknowingly implicated 3alpha-hydroxysteroid dehydrogenase [E.C. 1.1.1.50], 3(or 17)alpha-hydroxysteroid dehydrogenase [E.C. 1.1.1.209] and their respective products, androsterone (ADT) and epitestosterone (EpiT), in the developmental masculinization of sex behavior. EpiT is generally regarded as a hormonally inactive 17alpha-epimer of testosterone (T). In rats, the kidney is the primary site of EpiT formation, whereas in humans it originates from the gonads, with only a small contribution secreted by the adrenals. Because the ratio of T to EpiT is nearly constant, it is presently used for assessing steroid abuse in competitive sports, where the World Anti-Doping Agency (WADA) considers a T/EpiT ratio >4 evidence of T doping. Despite its central role in the detection of illict anabolic steroid use, our knowledge of factors effecting EpiT production is poor. Clues in the literature, however, reveal that prostaglandin-mediated processes, such as LHRH release, may influence its production. Antimycotics, NSAIDs, and opioid analgesics used in sports medicine are all known to effect prostaglandin E2 synthesis. Primary PGs are potent inhibitors of ADT oxidation, while indomethacin, a prostaglandin blocker, powerfully inhibits 3alpha-HSD reduction and ADT oxidation. This is significant because ADT inhibits the oxidation of EpiT, and may modulate its antiandrogenic and neuroprotective effects. It is hypothesized that the T/EpiT ratio is increased by COX-2 inhibitors and opiod analgesics, and decreased by antimycotics that do not impair testosterone biosynthesis. Given the devastating personal and career consequences that may result from false positive drug tests, substantive research on the effects of PGE2 manipulations on EpiT is warranted.

  15. Unbiased Identification of Patients with Disorders of Sex Development

    PubMed Central

    Hanauer, David A.; Gardner, Melissa; Sandberg, David E.

    2014-01-01

    Disorders of sex development (DSD) represent a collection of rare diseases that generate substantial controversy regarding best practices for diagnosis and treatment. A significant barrier preventing a better understanding of how patients with these conditions should be evaluated and treated, especially from a psychological standpoint, is the lack of systematic and standardized approaches to identify cases for study inclusion. Common approaches include “hand-picked” subjects already known to the practice, which could introduce bias. We implemented an informatics-based approach to identify patients with DSD from electronic health records (EHRs) at three large, academic children’s hospitals. The informatics approach involved comprehensively searching EHRs at each hospital using a combination of structured billing codes as an initial filtering strategy followed by keywords applied to the free text clinical documentation. The informatics approach was implemented to replicate the functionality of an EHR search engine (EMERSE) available at one of the hospitals. At the two hospitals that did not have EMERSE, we compared case ascertainment using the informatics method to traditional approaches employed for identifying subjects. Potential cases identified using all approaches were manually reviewed by experts in DSD to verify eligibility criteria. At the two institutions where both the informatics and traditional approaches were applied, the informatics approach identified substantially higher numbers of potential study subjects. The traditional approaches yielded 14 and 28 patients with DSD, respectively; the informatics approach yielded 226 and 77 patients, respectively. The informatics approach missed only a few cases that the traditional approaches identified, largely because those cases were known to the study team, but patient data were not in the particular children’s hospital EHR. The use of informatics approaches to search electronic documentation can

  16. Development of PCR‐Based Markers to Determine the Sex of Kelps

    PubMed Central

    Lipinska, Agnieszka P.; Ahmed, Sophia; Peters, Akira F.; Faugeron, Sylvain; Cock, J. Mark; Coelho, Susana M.

    2015-01-01

    Sex discriminating genetic markers are commonly used to facilitate breeding programs in economically and ecologically important animal and plant species. However, despite their considerable economic and ecological value, the development of sex markers for kelp species has been very limited. In this study, we used the recently described sequence of the sex determining region (SDR) of the brown algal model Ectocarpus to develop novel DNA-based sex-markers for three commercially relevant kelps: Laminaria digitata, Undaria pinnatifida and Macrocystis pyrifera. Markers were designed within nine protein coding genes of Ectocarpus male and female (U/V) sex chromosomes and tested on gametophytes of the three kelp species. Seven primer pairs corresponding to three loci in the Ectocarpus SDR amplified sex-specific bands in the three kelp species, yielding at least one male and one female marker for each species. Our work has generated the first male sex-specific markers for L. digitata and U. pinnatifida, as well as the first sex markers developed for the genus Macrocystis. The markers and methodology presented here will not only facilitate seaweed breeding programs but also represent useful tools for population and demography studies and provide a means to investigate the evolution of sex determination across this largely understudied eukaryotic group. PMID:26496392

  17. Development of PCR-Based Markers to Determine the Sex of Kelps.

    PubMed

    Lipinska, Agnieszka P; Ahmed, Sophia; Peters, Akira F; Faugeron, Sylvain; Cock, J Mark; Coelho, Susana M

    2015-01-01

    Sex discriminating genetic markers are commonly used to facilitate breeding programs in economically and ecologically important animal and plant species. However, despite their considerable economic and ecological value, the development of sex markers for kelp species has been very limited. In this study, we used the recently described sequence of the sex determining region (SDR) of the brown algal model Ectocarpus to develop novel DNA-based sex-markers for three commercially relevant kelps: Laminaria digitata, Undaria pinnatifida and Macrocystis pyrifera. Markers were designed within nine protein coding genes of Ectocarpus male and female (U/V) sex chromosomes and tested on gametophytes of the three kelp species. Seven primer pairs corresponding to three loci in the Ectocarpus SDR amplified sex-specific bands in the three kelp species, yielding at least one male and one female marker for each species. Our work has generated the first male sex-specific markers for L. digitata and U. pinnatifida, as well as the first sex markers developed for the genus Macrocystis. The markers and methodology presented here will not only facilitate seaweed breeding programs but also represent useful tools for population and demography studies and provide a means to investigate the evolution of sex determination across this largely understudied eukaryotic group.

  18. Assessing attitude toward same-sex marriage: scale development and validation.

    PubMed

    Lannutti, Pamela J; Lachlan, Kenneth A

    2007-01-01

    This paper reports the results of three studies conducted to develop, refine, and validate a scale which assessed heterosexual adults' attitudes toward same-sex marriage, the Attitude Toward Same-Sex Marriage Scale (ASSMS). The need for such a scale is evidenced in the increasing importance of same-sex marriage in the political arena of the United States and other nations, as well as the growing body of empirical research examining same-sex marriage and related issues (e.g., Lannutti, 2005; Solomon, Rothblum, & Balsam, 2004). The results demonstrate strong reliability, convergent validity, and predictive validity for the ASSMS and suggest that the ASSMS may be adapted to measure attitudes toward civil unions and other forms of relational recognition for same-sex couples. Gender comparisons using the validated scale showed that in college and non-college samples, women had a significantly more positive attitude toward same-sex marriage than did men.

  19. Development of an object relation-based typology of adolescent sex offenders.

    PubMed

    Gamache, Dominick; Diguer, Louis; Laverdière, Olivier; Rousseau, Jean-Pierre

    2012-01-01

    The aim of this study was to develop a typology of adolescent sex offenders based on object relations theory and Otto F. Kernberg's model of personality organizations (PO). A secondary objective was to compare the identified subtypes on offense characteristics as well as some psychological variables of adolescent sex offenders. Clinical files from 40 male adolescent sex offenders in treatment were examined. Cluster analysis based on PO and object relations variables identified six subtypes of offenders, in line with Kernberg's PO model. These subtypes differed from one another on various variables pertaining to characteristics of sex offenses, general delinquency, relational/sexual history, and trauma history.

  20. Common and unusual dental development abnormalities in a patient with bicuspid aortic valve.

    PubMed

    Răducanu, Anca Maria; Feraru, Ion Victor; Suciu, Ioana; Teodorescu, Elina; Didilescu, Andreea Cristiana; Ionescu, Ileana; Ionescu, Ecaterina

    2016-01-01

    Bicuspid aortic valve (BAV) is the most common congenital abnormality of the heart. In this condition, instead of three cusps, the aortic valve has two cusps. Children with congenital heart diseases are at increased risk of developing oral diseases, such as: higher number of decayed teeth, developmental anomalies, periodontal disease, malocclusion, dental crowding, as well as susceptibility to develop infective endocarditis from bacteremia caused by chronic poor oral health. However, little information is available regarding oral manifestations and their management in patients with congenital heart defects, despite the importance of these diseases. This paper presents oral manifestations associated with BAV in a young patient, alongside the general features of the condition. The presented case with BAV brings together features of a complex pathology and multidisciplinary treatment, which was conducted over a long period of time and still continues nowadays.

  1. The abnormal distribution of development: policies for southern women and children.

    PubMed

    Burman, E

    1995-03-01

    This paper offers a feminist critique of the relationships between gender and development by exploring the intersections between three sets of debates: firstly, the relations between interventions for women and for children through the anomalous position accorded to 'the girl child' in aid and development policies; secondly, the relations between psychological and economic models of development; and thirdly, the gendered and geographical allocation of attributes and opportunities. Drawing on analyses of the 'psychological complex' the author suggests that the cultural resources that inform developmental psychological models are highly cultural and class-specific (white, middle class, of the northern hemisphere), giving rise to a globalization of development that is reinscribed within international aid and development policies. In homogenizing difference to its norms, this globalization paradoxically reproduces the north-south opposition as an expression of cultural and political imperialism. While northern children 'develop', dominant discourses of children of the South are preoccupied with 'survival'. By such means the cultural hegemony of a unitary psychology remains intact. This paper discusses the 'abnormal distribution' of development to draw attention to the ways cultural and gender inequalities flow from the norms and generalized descriptions central to the current practice of developmental psychology and to urge that this is an important site of intervention for feminists addressing gender and development issues.

  2. Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.

    PubMed

    Wood, Alasdair J; Müller, Juliane S; Jepson, Catherine D; Laval, Steve H; Lochmüller, Hanns; Bushby, Kate; Barresi, Rita; Straub, Volker

    2011-12-15

    Fukutin and fukutin-related protein (FKRP) are involved in the glycosylation of α-dystroglycan, a key receptor for basement membrane proteins. Aberrant α-dystroglycan glycosylation leads to a broad spectrum of disorders, ranging from limb girdle muscular dystrophy to Walker-Warburg syndrome. This is the first study investigating a role of fukutin and FKRP-mediated glycosylation in angiogenesis. Transgenic zebrafish expressing enhanced green fluorescent protein in blood vessels were treated with morpholino antisense oligonucleotides that blocked the expression of fukutin, FKRP and dystroglycan. All morphant fish showed muscle damage and vascular abnormalities at day 1 post-fertilization. Intersegmental vessels of somites failed to reach the dorsal longitudinal anastomosis and in more severe phenotypes retracted further or were in some cases even completely missing. In contrast, the eye vasculature was distorted in both fukutin and FKRP morphants, but not in dystroglycan morphants or control fish. The eye size was also smaller in the fukutin and FKRP morphants when compared with dystroglycan knockdown fish and controls. In general, the fukutin morphant fish had the most severe skeletal muscle and eye phenotype. Our findings suggest that fukutin and FKRP have functions that affect ocular development in zebrafish independently of dystroglycan. Despite anecdotal reports about vascular abnormalities in patients affected by dystroglycanopathies, the clinical relevance of such lesions remains unclear and should be subject to further review and investigations.

  3. The character of abnormalities found in eye development of quail embruos exposed under space flight conditions

    NASA Astrophysics Data System (ADS)

    Grigoryan, E.; Dadheva, O.; Polinskaya, V.; Guryeva, T.

    The avian embryonic eye is used as a model system for studies on the environmental effects on central nervous system development. Here we present results of qualitative investigation of the eye development in quail embryos incubated in micro-"g" environment. In this study we used eyes of Japanese quail (Coturnix coturnix Japonica) embryos "flown" onboard biosatellite Kosmos-1129 and on Mir station within the framework of Mir-NASA Program. Eyes obtained from embryos ranging in age from 3-12 days (E3-E12) were prepared histologically and compared with those of the synchronous and laboratory gound controls. Ther most careful consideration was given to finding and analysis of eye developmental abnormalities. Then they were compared with those already described by experimental teratology for birds and mammals. At the stage of the "eye cup" (E3) we found the case of invalid formation of the inner retina. The latter was represented by disorganized neuroblasts occupying whole posterior chamber of the eye. On the 7th day of quail eye development, at the period of cellular growth activation some cases of small eyes with many folds of overgrowing neural and pigmented retinal layers were detected. In retinal folds of these eyes the normal layering was disturbed as well as the formation of aqueous body and pecten oculi. At this time point the changes were also found in the anterior part of the eye. The peculiarities came out of the bigger width of the cornea and separation of its layers, but were found in synchronous control as well. Few embryos of E10 had also eyes with the abnormities described for E7 but this time they were more vivid because of the completion of eye tissue differentiation. At the stage E12 we found the case evaluated as microphthalmia attending by overgrowth of anterior pigmented tissues - iris and ciliary body attached with the cornea. Most, but not all, of abnormalities we found in eye morphogeneses belonged to the birds "flown" aboard Kosmos- 1129 and

  4. Intergroup Processes in Childhood: Social Categorization and Sex Role Development.

    ERIC Educational Resources Information Center

    Powlishta, Kimberly K.

    1995-01-01

    Using naturalistic methods, examined effect of awareness and valuation of gender on children's social group interactions. Subjects were 96 3rd and 4th graders. Found that children do exaggerate differences and similarities when forming first impressions of new boys and girls and do use gender stereotypes in relating to the other sex. (JW)

  5. Hyperactivity, Shyness, and Sex: Development and Socio-Emotional Functioning

    ERIC Educational Resources Information Center

    Rydell, Ann-Margret; Diamantopoulou, Sofia; Thorell, Lisa B.; Bohlin, Gunilla

    2009-01-01

    Based on formulations about the possible consequences for adaptation of gender non-normative behaviour, we investigated predictive and concurrent relations of hyperactivity and shyness to various aspects of adaptation focusing on possible effects of sex. At ages 5-6, parents and preschool teachers rated hyperactivity and shyness for 151 children…

  6. Decision Processes During Development of Molecular Biomarkers for Gonadal Phenotypic Sex

    EPA Science Inventory

    Molecular biomarkers for determination of gonadal phenotypic sex in the Japanese medaka (Oryzias latipes), will serve as a case study. The medaka has unique features that aid in the development of appropriate molecular biomarkers of gonad phenotype, a) genetic sex can be determin...

  7. Positioning Sex Educators: A Critical Ethnography of a Professional Development Workshop

    ERIC Educational Resources Information Center

    Scott, Brigitte C.

    2013-01-01

    In this ethnographic research, I offer an analysis of a state-sponsored professional development workshop for sex educators. Positioning theory is used to understand how the lived space of the workshop -- including texts, talk and silence -- positions sex education teachers as professionals and practitioners with certain (limited) speaking rights…

  8. Abnormal Mammary Development in 129:STAT1-Null Mice is Stroma-Dependent.

    PubMed

    Chen, Jane Q; Mori, Hidetoshi; Cardiff, Robert D; Trott, Josephine F; Hovey, Russell C; Hubbard, Neil E; Engelberg, Jesse A; Tepper, Clifford G; Willis, Brandon J; Khan, Imran H; Ravindran, Resmi K; Chan, Szeman R; Schreiber, Robert D; Borowsky, Alexander D

    2015-01-01

    Female 129:Stat1-null mice (129S6/SvEvTac-Stat1(tm1Rds) homozygous) uniquely develop estrogen-receptor (ER)-positive mammary tumors. Herein we report that the mammary glands (MG) of these mice have altered growth and development with abnormal terminal end buds alongside defective branching morphogenesis and ductal elongation. We also find that the 129:Stat1-null mammary fat pad (MFP) fails to sustain the growth of 129S6/SvEv wild-type and Stat1-null epithelium. These abnormalities are partially reversed by elevated serum progesterone and prolactin whereas transplantation of wild-type bone marrow into 129:Stat1-null mice does not reverse the MG developmental defects. Medium conditioned by 129:Stat1-null epithelium-cleared MFP does not stimulate epithelial proliferation, whereas it is stimulated by medium conditioned by epithelium-cleared MFP from either wild-type or 129:Stat1-null females having elevated progesterone and prolactin. Microarrays and multiplexed cytokine assays reveal that the MG of 129:Stat1-null mice has lower levels of growth factors that have been implicated in normal MG growth and development. Transplanted 129:Stat1-null tumors and their isolated cells also grow slower in 129:Stat1-null MG compared to wild-type recipient MG. These studies demonstrate that growth of normal and neoplastic 129:Stat1-null epithelium is dependent on the hormonal milieu and on factors from the mammary stroma such as cytokines. While the individual or combined effects of these factors remains to be resolved, our data supports the role of STAT1 in maintaining a tumor-suppressive MG microenvironment.

  9. Abnormal Mammary Development in 129:STAT1-Null Mice is Stroma-Dependent

    PubMed Central

    Cardiff, Robert D.; Trott, Josephine F.; Hovey, Russell C.; Hubbard, Neil E.; Engelberg, Jesse A.; Tepper, Clifford G.; Willis, Brandon J.; Khan, Imran H.; Ravindran, Resmi K.; Chan, Szeman R.; Schreiber, Robert D.; Borowsky, Alexander D.

    2015-01-01

    Female 129:Stat1-null mice (129S6/SvEvTac-Stat1tm1Rds homozygous) uniquely develop estrogen-receptor (ER)-positive mammary tumors. Herein we report that the mammary glands (MG) of these mice have altered growth and development with abnormal terminal end buds alongside defective branching morphogenesis and ductal elongation. We also find that the 129:Stat1-null mammary fat pad (MFP) fails to sustain the growth of 129S6/SvEv wild-type and Stat1-null epithelium. These abnormalities are partially reversed by elevated serum progesterone and prolactin whereas transplantation of wild-type bone marrow into 129:Stat1-null mice does not reverse the MG developmental defects. Medium conditioned by 129:Stat1-null epithelium-cleared MFP does not stimulate epithelial proliferation, whereas it is stimulated by medium conditioned by epithelium-cleared MFP from either wild-type or 129:Stat1-null females having elevated progesterone and prolactin. Microarrays and multiplexed cytokine assays reveal that the MG of 129:Stat1-null mice has lower levels of growth factors that have been implicated in normal MG growth and development. Transplanted 129:Stat1-null tumors and their isolated cells also grow slower in 129:Stat1-null MG compared to wild-type recipient MG. These studies demonstrate that growth of normal and neoplastic 129:Stat1-null epithelium is dependent on the hormonal milieu and on factors from the mammary stroma such as cytokines. While the individual or combined effects of these factors remains to be resolved, our data supports the role of STAT1 in maintaining a tumor-suppressive MG microenvironment. PMID:26075897

  10. Impact of sex and hormones on new cells in the developing rat hippocampus: a novel source of sex dimorphism?

    PubMed Central

    Zhang, Jian-Min; Konkle, Anne T. M.; Zup, Susan L.; McCarthy, Margaret M.

    2009-01-01

    The hippocampus is a key brain region regulating complex cognitive and emotional responses, and is implicated in the etiology of depressive and anxiety disorders, many of which exhibit some degree of sex difference. The male rat hippocampus is consistently reported to be slightly but significantly larger than the female. The majority of studies on the development of volumetric sex differences have focused on the effects of estradiol (E2), with relatively few focusing on androgens. We examined the impact of both E2 and androgens on newly born cells in the developing rat hippocampus, and report that neonatal males have significantly more 5-bromo-2′-deoxyuridine-5′-monophosphate (BrdU)+ cells than females. Both testosterone (T) and dihydrotestosterone treatment of females significantly increased the number of BrdU+ cells, an effect blocked by the androgen receptor antagonist, flutamide. However, only T significantly increased the number of neuronal nuclear antigen+ neurons in the female rat hippocampus. Interestingly, E2 treatment also increased BrdU+ cells in females, but had no effect on neuron number. Instead, E2 and T significantly increased the number of newly born glial fibrillary acidic protein or glutamine synthetase+ glial cells in females, indicating that androgens and E2 may act independently to achieve distinct endpoints. Quantification of pyknotic cells at two different developmental time points indicates no sex difference in the number of cells dying, suggesting, but not proving, that gonadal steroids are promoting cell genesis. PMID:18333959

  11. Normal susceptibility to visual illusions in abnormal development: evidence from Williams syndrome.

    PubMed

    Palomares, Melanie; Ogbonna, Chinyere; Landau, Barbara; Egeth, Howard

    2009-01-01

    The perception of visual illusions is a powerful diagnostic of implicit integration of global information. Many illusions occur when length, size, orientation, or luminance are misjudged because neighboring visuospatial information cannot be ignored. We asked if people with Williams syndrome (WS), a rare genetic disorder that results in severely impaired global visuospatial construction abilities, are also susceptible to the context of visual illusions. Remarkably, we found that illusions influenced WS individuals to the same degree as normal adults, although size discrimination was somewhat impaired in WS. Our results are evidence that illusions are a consequence of the brain's bias to implicitly integrate visual information, even in a population known to have difficulty in explicitly representing spatial relationships among objects. Moreover, these results suggest that implicit and non-implicit integration of spatial information have different vulnerabilities in abnormal development.

  12. Development of abnormal fluid pressures beneath a ramping thrust sheet: Where's the evidence

    SciTech Connect

    Wiltschko, D.V.; Smith, R.E. . Dept. of Geology and Center for Tectonophysics)

    1992-01-01

    Many models for the mechanics of fold and thrust belts hold that fluid pressure is locally, or even everywhere, abnormal, thus aiding both internal deformation and motion along the base. Recent support comes from studies of accretionary prisms where drill-stem measurements of both fluid flow in fault zones and formation pressure are pointed to as evidence for a hydrodynamic system characterized by wide-spread excess fluid pressure. However, despite the general acceptance of high fluid pressure (Pf) as a potentially important controlling mechanism for thrust motion, and despite nearly 30 years of looking, direct evidence for abnormal fluid pressure in ancient continental thrust belts is either rare or ambiguous. The authors have developed a two-dimensional model for the evolution of fluid pressure within and beneath a ramping thrust sheet. In the model, the fluid and heat flow equations are solved and applied at each time step. The model accounts for porosity compaction, thermal pressuring, and fluid flow. Results of this model show, first, that high fluid pressure can be developed during deposition, before thrust motion. The authors used typical rates of deposition, duration of deposition, and a simplified three-layer stratigraphy for North American thrust belts. Second, the models show that high Pf can be maintained and/or further enhanced during thrusting depending upon the permeabilities assigned to the model hydrostratigraphic section. Of the rock properties studied in detail, modes are most sensitive to permeability. Nevertheless, the models show that for best guesses of the relevant rock properties it should be possible to find evidence for high fluid pressure in, (1) the crests of ramp anticlines and, (2) the toe region, especially in the lower plate.

  13. Molecules in pain and sex: a developing story.

    PubMed

    Mapplebeck, Josiane C S; Beggs, Simon; Salter, Michael W

    2017-03-07

    Microglia are dynamic immune cells with diverse roles in maintaining homeostasis of the central nervous system. Dysregulation of microglia has been critically implicated in the genesis of neuropathic pain. Peripheral nerve injury, a common cause of neuropathic pain, engages microglia-neuronal signalling which causes disinhibition and facilitated excitation of spinal nociceptive pathways. However, recent literature indicates that the role of microglia in neuropathic pain is sexually dimorphic, and that female pain processing appears to be independent of microglia, depending rather on T cells. Despite this sex difference, pain signalling in the spinal cord converges downstream of microglia, as NMDAR-mediated facilitated excitation in pain transmitting neurons is consistent between males and females. Determining whether pain signalling is sexually dimorphic in humans and, further, addressing the sex bias in pain research will increase the translational relevance of preclinical findings and advance our understanding of chronic pain in women.

  14. Normal and Abnormal Development of Motor Behavior: Lessons From Experiments in Rats

    PubMed Central

    Gramsbergen, Albert

    2001-01-01

    In this essay a few relevant aspects of the neural and behavioral development of the brain in the human and in the rat are reviewed and related to the consequences of lesions in the central and peripheral nervous system at early and later age. Movements initially are generated by local circuits in the spinal cord and without the involvement of descending projections. After birth, both in humans and in rats it seems that the devlopment of postural control is the limiting factor for several motor behaviors to mature. Strong indications exist that the cerebellum is significantly involved in this control. Lesions in the CNS at early stages interfere with fundamental processes of neural development, such as the establishment of fiber connections and cell death patterns. Consequently, the functional effects are strongly dependent on the stage of development. The young and undisturbed CNS, on the other hand, has a much greater capacity than the adult nervous system for compensating abnormal reinnervation in the peripheral nervous system. Animal experiments indicated that the cerebellar cortex might play an important part in this compensation. This possibility should be investigated further as it might offer important perspectives for treatment in the human. PMID:11530886

  15. Serotonin transporter variant drives preventable gastrointestinal abnormalities in development and function

    PubMed Central

    Margolis, Kara Gross; Li, Zhishan; Stevanovic, Korey; Saurman, Virginia; Anderson, George M.; Snyder, Isaac; Blakely, Randy D.; Gershon, Michael D.

    2016-01-01

    Autism spectrum disorder (ASD) is an increasingly common behavioral condition that frequently presents with gastrointestinal (GI) disturbances. It is not clear, however, how gut dysfunction relates to core ASD features. Multiple, rare hyperfunctional coding variants of the serotonin (5-HT) transporter (SERT, encoded by SLC6A4) have been identified in ASD. Expression of the most common SERT variant (Ala56) in mice increases 5-HT clearance and causes ASD-like behaviors. Here, we demonstrated that Ala56-expressing mice display GI defects that resemble those seen in mice lacking neuronal 5-HT. These defects included enteric nervous system hypoplasia, slow GI transit, diminished peristaltic reflex activity, and proliferation of crypt epithelial cells. An opposite phenotype was seen in SERT-deficient mice and in progeny of WT dams given the SERT antagonist fluoxetine. The reciprocal phenotypes that resulted from increased or decreased SERT activity support the idea that 5-HT signaling regulates enteric neuronal development and can, when disturbed, cause long-lasting abnormalities of GI function. Administration of a 5-HT4 agonist to Ala56 mice during development prevented Ala56-associated GI perturbations, suggesting that excessive SERT activity leads to inadequate 5-HT4–mediated neurogenesis. We propose that deficient 5-HT signaling during development may contribute to GI and behavioral features of ASD. The consequences of therapies targeting SERT during pregnancy warrant further evaluation. PMID:27111230

  16. A Restorative Justice Approach to Empathy Development in Sex Offenders: An Exploratory Study

    ERIC Educational Resources Information Center

    Roseman, Christopher P.; Ritchie, Martin; Laux, John M.

    2009-01-01

    The authors describe an exploratory study in sex offender treatment using a restorative justice approach to examine the shame, guilt, and empathy development of convicted sexual offenders. Implications for clinical practice and future research are highlighted. (Contains 3 tables.)

  17. Ultrastructural and cellular basis for the development of abnormal myocardial mechanics during the transition from hypertension to heart failure.

    PubMed

    Shah, Sanjiv J; Aistrup, Gary L; Gupta, Deepak K; O'Toole, Matthew J; Nahhas, Amanda F; Schuster, Daniel; Chirayil, Nimi; Bassi, Nikhil; Ramakrishna, Satvik; Beussink, Lauren; Misener, Sol; Kane, Bonnie; Wang, David; Randolph, Blake; Ito, Aiko; Wu, Megan; Akintilo, Lisa; Mongkolrattanothai, Thitipong; Reddy, Mahendra; Kumar, Manvinder; Arora, Rishi; Ng, Jason; Wasserstrom, J Andrew

    2014-01-01

    Although the development of abnormal myocardial mechanics represents a key step during the transition from hypertension to overt heart failure (HF), the underlying ultrastructural and cellular basis of abnormal myocardial mechanics remains unclear. We therefore investigated how changes in transverse (T)-tubule organization and the resulting altered intracellular Ca(2+) cycling in large cell populations underlie the development of abnormal myocardial mechanics in a model of chronic hypertension. Hearts from spontaneously hypertensive rats (SHRs; n = 72) were studied at different ages and stages of hypertensive heart disease and early HF and were compared with age-matched control (Wistar-Kyoto) rats (n = 34). Echocardiography, including tissue Doppler and speckle-tracking analysis, was performed just before euthanization, after which T-tubule organization and Ca(2+) transients were studied using confocal microscopy. In SHRs, abnormalities in myocardial mechanics occurred early in response to hypertension, before the development of overt systolic dysfunction and HF. Reduced longitudinal, circumferential, and radial strain as well as reduced tissue Doppler early diastolic tissue velocities occurred in concert with T-tubule disorganization and impaired Ca(2+) cycling, all of which preceded the development of cardiac fibrosis. The time to peak of intracellular Ca(2+) transients was slowed due to T-tubule disruption, providing a link between declining cell ultrastructure and abnormal myocardial mechanics. In conclusion, subclinical abnormalities in myocardial mechanics occur early in response to hypertension and coincide with the development of T-tubule disorganization and impaired intracellular Ca(2+) cycling. These changes occur before the development of significant cardiac fibrosis and precede the development of overt cardiac dysfunction and HF.

  18. Deficiency of the Chromatin Regulator Brpf1 Causes Abnormal Brain Development*

    PubMed Central

    You, Linya; Zou, Jinfeng; Zhao, Hong; Bertos, Nicholas R.; Park, Morag; Wang, Edwin; Yang, Xiang-Jiao

    2015-01-01

    Epigenetic mechanisms are important in different neurological disorders, and one such mechanism is histone acetylation. The multivalent chromatin regulator BRPF1 (bromodomain- and plant homeodomain-linked (PHD) zinc finger-containing protein 1) recognizes different epigenetic marks and activates three histone acetyltransferases, so it is both a reader and a co-writer of the epigenetic language. The three histone acetyltransferases are MOZ, MORF, and HBO1, which are also known as lysine acetyltransferase 6A (KAT6A), KAT6B, and KAT7, respectively. The MORF gene is mutated in four neurodevelopmental disorders sharing the characteristic of intellectual disability and frequently displaying callosal agenesis. Here, we report that forebrain-specific inactivation of the mouse Brpf1 gene caused early postnatal lethality, neocortical abnormalities, and partial callosal agenesis. With respect to the control, the mutant forebrain contained fewer Tbr2-positive intermediate neuronal progenitors and displayed aberrant neurogenesis. Molecularly, Brpf1 loss led to decreased transcription of multiple genes, such as Robo3 and Otx1, important for neocortical development. Surprisingly, elevated expression of different Hox genes and various other transcription factors, such as Lhx4, Foxa1, Tbx5, and Twist1, was also observed. These results thus identify an important role of Brpf1 in regulating forebrain development and suggest that it acts as both an activator and a silencer of gene expression in vivo. PMID:25568313

  19. Deficiency of the chromatin regulator BRPF1 causes abnormal brain development.

    PubMed

    You, Linya; Zou, Jinfeng; Zhao, Hong; Bertos, Nicholas R; Park, Morag; Wang, Edwin; Yang, Xiang-Jiao

    2015-03-13

    Epigenetic mechanisms are important in different neurological disorders, and one such mechanism is histone acetylation. The multivalent chromatin regulator BRPF1 (bromodomain- and plant homeodomain-linked (PHD) zinc finger-containing protein 1) recognizes different epigenetic marks and activates three histone acetyltransferases, so it is both a reader and a co-writer of the epigenetic language. The three histone acetyltransferases are MOZ, MORF, and HBO1, which are also known as lysine acetyltransferase 6A (KAT6A), KAT6B, and KAT7, respectively. The MORF gene is mutated in four neurodevelopmental disorders sharing the characteristic of intellectual disability and frequently displaying callosal agenesis. Here, we report that forebrain-specific inactivation of the mouse Brpf1 gene caused early postnatal lethality, neocortical abnormalities, and partial callosal agenesis. With respect to the control, the mutant forebrain contained fewer Tbr2-positive intermediate neuronal progenitors and displayed aberrant neurogenesis. Molecularly, Brpf1 loss led to decreased transcription of multiple genes, such as Robo3 and Otx1, important for neocortical development. Surprisingly, elevated expression of different Hox genes and various other transcription factors, such as Lhx4, Foxa1, Tbx5, and Twist1, was also observed. These results thus identify an important role of Brpf1 in regulating forebrain development and suggest that it acts as both an activator and a silencer of gene expression in vivo.

  20. Prenatal ketamine exposure causes abnormal development of prefrontal cortex in rat

    PubMed Central

    Zhao, Tianyun; Li, Chuanxiang; Wei, Wei; Zhang, Haixing; Ma, Daqing; Song, Xingrong; Zhou, Libing

    2016-01-01

    Ketamine is commonly used for anesthesia and as a recreational drug. In pregnant users, a potential neurotoxicity in offspring has been noted. Our previous work demonstrated that ketamine exposure of pregnant rats induces affective disorders and cognitive impairments in offspring. As the prefrontal cortex (PFC) is critically involved in emotional and cognitive processes, here we studied whether maternal ketamine exposure influences the development of the PFC in offspring. Pregnant rats on gestational day 14 were treated with ketamine at a sedative dose for 2 hrs, and pups were studied at postnatal day 0 (P0) or P30. We found that maternal ketamine exposure resulted in cell apoptosis and neuronal loss in fetal brain. Upon ketamine exposure in utero, PFC neurons at P30 showed more dendritic branching, while cultured neurons from P0 PFC extended shorter neurites than controls. In addition, maternal ketamine exposure postponed the switch of NR2B/2A expression, and perturbed pre- and postsynaptic protein expression in the PFC. These data suggest that prenatal ketamine exposure impairs neuronal development of the PFC, which may be associated with abnormal behavior in offsprings. PMID:27226073

  1. Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency.

    PubMed

    Geckinli, B B; Toksoy, G; Sayar, C; Soylemez, M A; Yesil, G; Aydın, H; Karaman, A; Devranoglu, B

    2014-11-01

    Our objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian insufficiency (POI). A retrospective study was performed using medical records of 94 patients with PA and 81 patients with POI at the Genetics Department, Zeynep Kamil Women's and Children's Research and Training Hospital, Istanbul, Turkey. G-banded metaphase karyotype analysis were prepared and analyzed. Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 10 were full blown or mosaic X-chromosome structural anomalies (5.7%), one was X-autosome translocation (0.5%), 3 were autosomal anomalies (1.7%), 12 were XY karyotype (6.8%), one was 45,X/46,XY mosaic and 2 were full blown or mosaic structural anomalies of Y chromosome (1.7%). The prevalence of chromosomal abnormalities was 25% in this large series of Turkish women with primary amenorrhea or premature ovarian insufficiency, most cases involving X-aneuploidy or X-structural abnormalities or 46,XY karyotype. High prevalence of chromosomal abnormalities is associated with POI starting at an early age (average age: 26 years).

  2. Researching domestic violence in same-sex relationships--a feminist epistemological approach to survey development.

    PubMed

    Hester, Marianne; Donovan, Catherine

    2009-01-01

    The article draws on recently completed research by the authors, involving a detailed study of love and intimate partner violence in same-sex and heterosexual relationships (funded by the ESRC, award RES-000-23-0650). The research, hitherto the most detailed study of its kind in the United Kingdom, included a national same-sex community survey (n = 800) plus four focus groups and interviews with 67 individuals identifying as lesbian, gay, queer, bisexual, transgender, or heterosexual. The article discusses in particular the development of the same-sex community survey, focusing on the epistemological and methodological implications of using a feminist approach.

  3. Hyperactivity, shyness, and sex: development and socio-emotional functioning.

    PubMed

    Rydell, Ann-Margret; Diamantopoulou, Sofia; Thorell, Lisa B; Bohlin, Gunilla

    2009-09-01

    Based on formulations about the possible consequences for adaptation of gender nonnormative behaviour, we investigated predictive and concurrent relations of hyperactivity and shyness to various aspects of adaptation focusing on possible effects of sex. At ages 5-6, parents and preschool teachers rated hyperactivity and shyness for 151 children (50% boys). At age 9, we obtained teacher ratings of hyperactivity, internalizing and externalizing problems, self-ratings of trait anxiety, and peer nominations of shyness, social preference, and aggression. Several effects of sex were found. Hyperactivity ratings were more strongly related across time and raters for boys than for girls. In the predictive analyses, boys' hyperactivity was more strongly related to aggression than was girls' hyperactivity, and in concurrent analyses, girls' hyperactivity was more strongly associated with low social preference than was boys' hyperactivity. There was a protective effect of shyness with regard to aggression that applied only to boys, that is, at high hyperactivity levels, boys with high shyness levels were less aggressive than boys with low shyness levels. There were also main effects of hyperactivity and shyness. In predictive and concurrent analyses, hyperactivity was associated with low social preference, high levels of externalizing problems and with aggression, whereas shyness was associated with high levels of internalizing problems. Finally, there was an interactive effect of hyperactivity and shyness. In the concurrent analyses, an exacerbating effect was demonstrated insofar as high shyness was associated with low social preference at high, but not at low levels of hyperactivity. The different developmental risks of hyperactivity and shyness were discussed.

  4. Abnormal Sperm Development in pcd3J-/- Mice: the Importance of Agtpbp1 in Spermatogenesis

    PubMed Central

    Kim, Nameun; Xiao, Rui; Choi, Hojun; Kim, Jin-Hoi; Sang-Jun, Uhm; Chankyu, Park

    2011-01-01

    Homozygous Purkinje cell degeneration (pcd) mutant males exhibit abnormal sperm development. Microscopic examination of the testes from pcd3J-/- mice at postnatal days 12, 15, 18 and 60 revealed histological differences, in comparison to wild-type mice, which were evident by day 18. Greatly reduced numbers of spermatocytes and spermatids were found in the adult testes, and apoptotic cells were identified among the differentiating germ cells after day 15. Our immunohistological analysis using an antihuman AGTPBP1 antibody showed that AGTPBP1 was expressed in spermatogenic cells between late stage primary spermatocytes and round spermatids. A global gene expression analysis from the testes of pcd3J-/- mice showed that expression of cyclin B3 and de-ubiquitinating enzymes USP2 and USP9y was altered by >1.5-fold compared to the expression levels in the wild-type. Our results suggest that the pcd mutant mice have defects in spermatogenesis that begin with the pachytene spermatocyte stage and continue through subsequent stages. Thus, Agtpbp1, the gene responsible for the pcd phenotype, plays an important role in spermatogenesis and is important for survival of germ cells at spermatocytes stage onward. PMID:21110128

  5. Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development.

    PubMed

    Ediati, Annastasia; Juniarto, Achmad Zulfa; Birnie, Erwin; Drop, Stenvert L S; Faradz, Sultana M H; Dessens, Arianne B

    2015-07-01

    In most Western countries, clinical management of disorders of sex development (DSD), including ambiguous genitalia, begins at diagnosis soon after birth. For many Indonesian patients born with ambiguous genitalia, limited medical treatment is available. Consequently, affected individuals are raised with ambiguous genitalia and atypical secondary sex characteristics. We investigated gender identity and gender role behavior in 118 Indonesian subjects (77 males, 41 females) with different types of DSD in comparison with 118 healthy controls matched for gender, age, and residential setting (rural, suburban, or urban). In Study 1, we report on methodological aspects of the investigation, including scale adaptation, pilot testing, and determining reliability and validity of measures. In Study 2, we report on gender development in 60 children (42 boys, 18 girls), 24 adolescents (15 boys, 9 girls), and 34 adults (19 men, 15 women) with DSD. The majority of participants with DSD never received any medical or surgical treatment prior to this study. We observed a gender change in all age groups, with the greatest incidence in adults. Among patients who changed, most changed from female to male, possessed a 46,XY karyotype, and had experienced significant masculinization during life. Gender identity confusion and cross-gender behavior was more frequently observed in children with DSD raised as girls compared to boys. Puberty and associated masculinization were related to gender problems in individuals with 46,XY DSD raised female. An integrated clinical and psychological follow-up on gender outcome is necessary prior to puberty and adulthood.

  6. Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

    PubMed Central

    Karra, Vijay Kumar; Jindal, Ankur; Puppala, Madhavi; Singh, Pratiksha; Rawat, Kanchan; Kapoor, Seema

    2016-01-01

    Introduction Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. Aim The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis. Materials and Methods Total of 859 patients ranging from newborn to 37 years of age were referred to the division of genetics, Department of Paediatrics between 2010 and 2015, with a variety of clinical disorders; Down syndrome (DS), Turner’s syndrome (TS) and Klinefelter syndrome; amenorrhea; ambiguous sex and multiple congenital malformations. Chromosomal analysis was performed on lymphocyte culture according to standard methods. Results Of the 859 cases studied, 371 (43.1%) had chromosomal abnormalities. The most common autosomal abnormalities were DS 302 (81.4%) and sex chromosomal abnormalities were TS 51 (13.7%). Numerical abnormalities were accounted for 353 (41.0%) and structural abnormalities 18 (2.0%), respectively. Various other chromosomal anomalies were also reported. Conclusion We have reviewed the incidence and distribution of chromosomal abnormalities and found higher rate of chromosomal abnormalities 43.1% in the referred cases. Our data suggest that chromosomal analysis is important tool in the evaluation of genetic disorders and helps clinicians to provide accurate diagnosis and proper genetic counselling. PMID:27790464

  7. Continuous exposure to bisphenol A during in vitro follicular development induces meiotic abnormalities.

    PubMed

    Lenie, Sandy; Cortvrindt, Rita; Eichenlaub-Ritter, Ursula; Smitz, Johan

    2008-03-12

    Bisphenol A (BPA), a widely used environmental contaminant, may exert weak estrogenic, anti-androgenic and anti-thyroidic activities. BPA is suspected to possess aneugenic properties that may affect somatic cells and mammalian oocytes. Oocyte growth and maturation depend upon a complex bi-directional signaling between the oocyte and its companion somatic cells. Consequently, disturbances in oocyte maturation may originate either from direct effects of BPA at the level of the oocyte or from indirect influences at the follicular level, such as alterations in hormonal homeostasis. This study aimed to analyze the effects of chronic BPA exposure (3 nM to 30 microM) on follicle-enclosed growth and maturation of mouse oocytes in vitro. Oocytes were cultured and their spindle and chromosomes were stained by alpha-tubulin immunofluorescence and ethidium homodimer-2, respectively. Confocal microscopy was utilized for subsequent analysis. Only follicles that were exposed to 30 microM BPA during follicular development showed a slightly reduced granulosa cell proliferation and a lower total estrogen production, but they still developed and formed antral-like cavities. However, 18% of oocytes were unable to resume meiosis after stimulation of oocyte maturation, and 37% arrested after germinal vesicle breakdown, significantly different from controls (p<0.05). Only 45% of the oocytes extruded a first polar body (p < 0.05). 30 microM BPA led also to a significant increase in meiosis I-arrested oocytes with unaligned chromosomes and spindle aberrations. Oocytes that were able to progress beyond meiosis I, frequently arrested at an abnormal telophase I. Additionally, in many oocytes exposed to low chronic BPA that matured to meiosis II chromosomes failed to congress at the spindle equator. In conclusion, mouse follicle culture reveals non-linear dose-dependent effects of BPA on the meiotic spindle in mouse oocytes when exposure was chronic throughout oocyte growth and maturation.

  8. Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive).

    PubMed

    Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Salamon, Sylwia; Kociucka, Beata; Jackowiak, Hanna; Prozorowska, Ewelina; Slaska, Brygida; Rozanska, Dorota; Orzelski, Maciej; Ochota, Malgorzata; Dzimira, Stanislaw; Lipiec, Magdalena; Nizanski, Wojciech; Switonski, Marek

    2014-12-10

    The molecular background of disorders of sex development (DSD) in cats is poorly recognized. In this study we present cytogenetic, molecular and histological analyses of four cats subjected for the analysis due to ambiguous external genitalia. Three cases, with rudimentary penises and an abnormal position of the urethral orifice, represented different types of hypospadias. The fourth case had a normal penis, a blind vulva and spermatogenetically active testes. Histological studies showed structures typical of testes, but spermatogenic activity was observed in two cats only. All the cats had a normal male chromosome complement (38,XY) and the Y-chromosome linked genes (SRY and ZFY) were also detected. Fluorescent in situ hybridization (FISH), with the use of the feline BAC probe harboring the SRY gene, excluded the possibility of chromosome translocation of the Y chromosome fragment carrying the SRY gene onto another chromosome. Sequencing of four candidate genes (SRY--sex determining region Y; AR--androgen receptor; SRD5A2--steroid-5-alfa reductase 2 and MAMLD1--mastermind-like domain containing (1) revealed one SNP in the SRY gene, one common polymorphism in exon 1 of the AR gene (tandem repeat of a tri-nucleotide motif--CAG), six polymorphisms (5 SNPs and 1 indel) in the SRD5A2 gene and one SNP in the MAMLD1 gene. Molecular studies of the candidate genes showed no association with the identified polymorphisms, thus molecular background of the studied DSD phenotypes remains unknown.

  9. Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

    PubMed Central

    Laino, Luigi; Majore, Silvia; Preziosi, Nicoletta; Grammatico, Barbara; De Bernardo, Carmelilia; Scommegna, Salvatore; Rapone, Anna Maria; Marrocco, Giacinto; Bottillo, Irene; Grammatico, Paola

    2014-01-01

    Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of sex development (DSD) are all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex. Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients. In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies. In total, we found a genetic variant in 56 out of 88 of them, leading to the clinical classification of every patient, and we outline the different steps required for a coherent genetic testing approach. In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient. PMID:25248670

  10. Psychological aspects of the treatment of patients with disorders of sex development.

    PubMed

    Sandberg, David E; Gardner, Melissa; Cohen-Kettenis, Peggy T

    2012-10-01

    Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery. This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages.

  11. Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development.

    PubMed

    Ulbright, Thomas M; Young, Robert H

    2014-09-01

    Some patients with disorders of sex development (DSDs), previously known as intersex disorders, have abnormal gonadal development and an increased risk of germ cell tumors. Because of their relative rarity, however, many pathologists are unfamiliar with the morphological findings in the gonads of DSD patients and their clinical significance. This review concentrates on some of the most common DSDs where gonadal specimens may come to the attention of pathologists. It highlights the findings in gonadal dysgenesis, a DSD with a spectrum of clinical, pathologic, and molecular features but with the shared attributes of having both Y chromosomal material (even if in very limited amounts) in the gonad and also having mutations or deletions in genes necessary for normal gonadal development, mostly in those upstream of the SOX9 gene. This situation results in testicular tissue lacking normal Sertoli cells, which are now considered an essential element for the normal maturation of the primordial germ cells that migrate to the gonad from the embryonic yolk sac. Germ cells with delayed maturation mimic neoplastic germ cells, but there are both morphological and immunohistochemical differences. If the gonad having germ cells with delayed maturation also harbors the TSPY gene on the GBY locus of the Y chromosome, the cells may undergo neoplastic transformation and result in the distinctive gonadoblastoma, whose pathologic features are explored at length herein, including its potential for variant morphologies, such as a "dissecting" pattern. Another important DSD, the androgen insensitivity syndrome (AIS), is discussed at length, including the varied appearances of the testis and its distinctive lesions-hamartomas and Sertoli cell adenomas. The potential for germ cell neoplasia in the partial AIS is also discussed and contrasted with that of the complete AIS. A third major topic is ovotesticular DSD (true hermaphroditism). The clinical features and morphology of this condition

  12. IgG (Gm) allotypes and multiple sclerosis in a French population: phenotype distribution and quantitative abnormalities in CSF with respect to sex, disease severity, and presence of intrathecal antibodies.

    PubMed

    Sesboüé, R; Daveau, M; Degos, J D; Martin-Mondiere, C; Goust, J M; Schuller, E; Rivat-Peran, L; Coquerel, A; Dujardin, M; Salier, J P

    1985-11-01

    The association of a given Gm allotype or phenotype with MS susceptibility, as previously described in some Caucasian populations, was not observed in a large French MS group, whether or not considering the possible influence of sex or disease severity. This result could be related to variations in geographical distribution of Gm alleles and MS susceptibility gene(s) or suggests the simultaneous involvement of Gm and other genetic system(s). In contrast, the corresponding CSFs exhibited already known MS-associated abnormalities of IgG1 (G1m) allotype contents, which therefore did not merely result from a Gm-associated MS susceptibility. These quantitative abnormalities were not sex dependent, but may fluctuate with MS severity. The G1m allotype levels in each CSF were not correlated with titers of various intrathecal antibodies but with the number of antibody specificities detected, a picture arguing for a polyclonal, non-antigen-specific activation of G1m allotype-producing B cells present in MS brain.

  13. Alveolar abnormalities

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001093.htm Alveolar abnormalities To use the sharing features on this page, please enable JavaScript. Alveolar abnormalities are changes in the tiny air sacs in ...

  14. Nail abnormalities

    MedlinePlus

    Beau's lines; Fingernail abnormalities; Spoon nails; Onycholysis; Leukonychia; Koilonychia; Brittle nails ... 2012:chap 71. Zaiac MN, Walker A. Nail abnormalities associated with systemic pathologies. Clin Dermatol . 2013;31: ...

  15. Sex differences in behavior and neural development and their role in adolescent vulnerability to substance use.

    PubMed

    Hammerslag, Lindsey R; Gulley, Joshua M

    2016-02-01

    Adolescents are especially prone to risky behavior and to the emergence of psychological disorders like substance abuse, anxiety and depression. However, there is a sex (or gender) difference in this vulnerability, with females being more prone to developing internalizing disorders and males being more likely to engage in risky behavior and drug use. While several researchers have proposed that there is a relationship between corticolimbic circuit development and adolescent vulnerability, the current proposed models do not take sex differences into account. In this review, we explore recent findings from both human and rodent studies of sex differences during adolescence. In particular, we consider epidemiological studies on the factors that contribute to the development of substance abuse and internalizing disorders, laboratory studies on reward-related and decision-making behavior, and neuroanatomical studies on the development of several structures in the corticolimbic circuit (i.e., prefrontal cortex [PFC], amygdala and striatum). We then integrate these recent findings into models of adolescent vulnerability to substance use that have previously not addressed sex differences. Lastly, we discuss methodological considerations for the interpretation and design of studies on sex (or gender) differences during adolescence while highlighting some opportunities for future investigations.

  16. Sex Differences in the Development of Social Relationships in Rhesus Macaques (Macaca mulatta)

    PubMed Central

    Amici, Federica; Langos, Doreen; Widdig, Anja

    2015-01-01

    Several studies have documented the importance of social bonding for the enhancement of individual fitness. However, little is known about how social relationships develop through ontogeny, and whether their development follows the same trajectory in males and females. Here we analyzed affiliative interactions (proximity, social grooming, play) combined with demographic and genetic data in semi-free-ranging rhesus macaques (Macaca mulatta) on Cayo Santiago over their first 4 yr of life (from birth to sexual maturation) to understand how these interactions change through development in both sexes. Generalized linear mixed models revealed that social behaviors mostly followed different developmental trajectories in males and females and were highly dependent on the social context. In particular, sex differences in social behavior varied through development depending on the partner’s sex and age. Females engaged in more social interactions than males, especially with other females, and were more involved in grooming around the time of maturation. In contrast, males interacted more with males and age peers, especially around maturation. Sex differences in social behavior varied through development, but also depended on rank, partner’s rank, and kin line, although not consistently. High-ranking individuals, especially older females, were generally preferred as social partners. Moreover, both male and female individuals interacted mostly with maternal kin, although males also preferred paternal kin over nonkin. Importantly, most developmental changes in sociality happened when individuals were ca. 2 yr old, suggesting that this might be a milestone in the development of sociality in rhesus macaques. The only notable exception to this pattern was play, which was more pronounced in males from the beginning of their lives. We propose that play might serve as a trigger of sex differences in social behavior, with sex differences emerging early in development and

  17. Female-biased sex difference in vasotocin-immunoreactive neural structures in the developing quail brain.

    PubMed

    Aste, Nicoletta; Yoshioka, Naoki; Sakamoto, Emiko; Saito, Noboru

    2016-11-01

    The bed nucleus of the stria terminalis pars medialis (BSTM), medial preoptic nucleus (POM), and lateral septal region (LS) exhibit more vasotocin-immunoreactive (VT-ir) neural structures in male than in female adult quail. VT-ir cells and fibers in these regions are sensitive to gonadal steroids only in males. The insensitivity of adult female VT-ir neural structures to sex steroids is attributed to estradiol exposure during a critical period in embryonic life. Although the VT-ir system has been intensively examined in adult quail, information is limited in embryos and juveniles. Therefore, we herein investigated the development of VT-immunoreactive neural structures from embryonic day (E) 9 to adulthood with a particular focus on the BSTM, POM and LS of both sexes. VT-ir neural structures were more evident in female than in male embryos from E9 (BSTM and POM) and E11 (LS). This sex difference disappeared between E15 and post-hatch day 1 in the BSTM and POM, and during the first week of life in the LS. Male-biased sex differences in VT-ir structures appeared at puberty. Female-biased sexual dimorphism in the density of the VT-ir structures of BSTM was reflected by the stronger expression of VT mRNA in females than in males. However, the density of VT mRNA somata was comparable in the two sexes. The exposure of male embryos to estradiol resulted in the feminization of VT-ir neural structures in the BSTM, but not in the POM or LS at E11. Collectively, these results suggest that sex differences in VT-ir neural structures changes drastically throughout quail life. In embryos, endogenous estradiol may stimulate the expression of VT in females, resulting in a robust sex difference in VT-ir cells and fibers in favor of this sex.

  18. Yolk-albumen testosterone in a lizard with temperature-dependent sex determination: relation with development.

    PubMed

    Huang, Victoria; Bowden, Rachel M; Crews, David

    2013-06-01

    The leopard gecko (Eublepharis macularius) exhibits temperature-dependent sex determination as well as temperature-influenced polymorphisms. Research suggests that in oviparous reptiles with temperature-dependent sex determination, steroid hormones in the yolk might influence sex determination and sexual differentiation. From captive leopard geckos that were all from the same incubation temperature regime, we gathered freshly laid eggs, incubated them at one of two female-biased incubation temperatures (26 or 34°C), and measured testosterone content in the yolk-albumen at early or late development. No differences in the concentration of testosterone were detected in eggs from different incubation temperatures. We report testosterone concentrations in the yolk-albumen were higher in eggs of late development than early development at 26°C incubation temperatures, a finding opposite that reported in other TSD reptiles studied to date.

  19. Character Development in Business Education: A Comparison of Coeducational and Single-Sex Environments

    ERIC Educational Resources Information Center

    Davis, James H.; Ruhe, John; Lee, Monle; Rajadhyaksha, Ujvala

    2011-01-01

    This study questions the widely held assumption, particularly in the United States, that coeducation is best. Previous research supports the development of single-sex education for both female and male students. This study examines how the learning climate of the coeducation environment seems to affect the character development of female business…

  20. Gender Development Research in Sex Roles: Historical Trends and Future Directions

    PubMed Central

    Miller, Cindy Faith; Ruble, Diane N.; Martin, Carol Lynn; Fabes, Richard A.

    2011-01-01

    The late 1960s through the 1970s marked an important turning point in the field of gender research, including theory and research in gender development. The establishment of Sex Roles in 1975 as a forum for this research represented an important milestone in the field. In this article, we celebrate the 35th anniversary of Sex Roles and, in particular, its contributions to the field of research on children’s and adolescents’ gender development. We examine the trends in research on gender development published in Sex Roles since its inception and use this analysis as a vehicle for exploring how the field has grown and evolved over the past few decades. We begin with a brief review of the history of this field of research since 1975. Then, we present a descriptive assessment of articles published on gender development in Sex Roles over time, and link this assessment to general trends that have occurred in the study of gender development over the past 35 years. We conclude with a discussion of future directions for the field of gender development. In particular, we highlight areas in which the journal could play a role in promoting more diversity in topics, methods, and ages employed in gender development research. PMID:21747580

  1. Development of pulmonary arterial hypertension in women: interplay of sex hormones and pulmonary vascular disease

    PubMed Central

    Pugh, Meredith E; Hemnes, Anna R

    2010-01-01

    Pulmonary arterial hypertension (PAH) is a progressive disease of the pulmonary vasculature, ultimately resulting in right heart failure and death. This disease is strongly predominant in females, although little is known regarding how sex influences disease development. Recent developments highlighting the importance of estrogen metabolites in both animal models and human disease have substantially increased our understanding of PAH in women. This review will focus on general knowledge of PAH, translational and basic science data regarding sex hormones in the pulmonary vasculature and on clinical issues that are particular to women with PAH. Future directions for study include the influence of sex hormones on right ventricular responses, improving the understanding of the influence of estrogen exposure in human disease and the study of dehydroepiandrosterone in basic science and human disease. PMID:20187732

  2. Heterosexual experience prevents the development of conditioned same-sex partner preference in male rats.

    PubMed

    Ramírez-Rodríguez, Rodrigo; Tecamachaltzi-Silvaran, Miriam B; Díaz-Estrada, Victor X; Chena-Becerra, Florencia; Herrera-Covarrubias, Deissy; Paredes-Ramos, Pedro; Manzo, Jorge; Garcia, Luis I; Coria-Avila, Genaro A

    2017-03-01

    Sexual partner preferences can be strengthened, weakened or even drastically modified via Pavlovian conditioning. For example, conditioned same-sex partner preference develops in sexually-naïve male rats that undergo same-sex cohabitation under the effects of quinpirole (QNP, D2 agonist). Here, we assessed the effect of prior heterosexual experience on the probability to develop a conditioned same-sex preference. Naïve or Sexually-experienced males received either Saline or QNP and cohabited during 24h with a male partner that bore almond scent on the back as conditioned stimulus. This was repeated every 4days for a total of three trials and resulted in four groups (Saline-naïve, Saline-experienced, QNP-naïve, QNP-experienced). Social and sexual preference were assessed four days after the last conditioning trial in a drug-free test in which experimental males chose between the scented familiar male and a novel sexually receptive female. Results showed that Saline-naïve, Saline-experienced and QNP-experienced displayed a clear preference for the female (opposite-sex). By contrast, only QNP-naïve males displayed a same-sex preference. Accordingly, QNP-experienced males were not affected by the conditioning process and continued to prefer females. We discuss the effects of copulation and D2 agonists on the facilitation and/or disruption of conditioned partner preferences.

  3. A Developing Aptitude Model--Sex Equity. Summary Report.

    ERIC Educational Resources Information Center

    Fox Valley Technical Coll., Appleton, WI.

    During a 2-year period, Fox Valley Technical College (FVTC) in Wisconsin developed a "New Directions" project, funded by the Job Training Partnership Act (JTPA), that successfully identified, enrolled, and graduated 30 women in a training program for nontraditional occupations. Project activities included scheduling morning and evening…

  4. A Meta-Analysis of Sex Differences in Moral Development.

    ERIC Educational Resources Information Center

    Blake, Catherine; Cohen, Henri

    According to Gilligan (1982) there are two different orientations for describing moral development: a justice orientation characteristic of males, and a care orientation characteristic of females. Gilligan claims that the care orientation is confounded with the justice orientation in Kohlberg's (1983) conceptualization of Stage 3: mutual…

  5. Testosterone content of developing eggs and sex reversal in the medaka (Oryzias latipes).

    PubMed

    Iwamatsu, Takashi; Kobayashi, Hirokuni; Sagegami, Reiko; Shuo, Takuya

    2006-01-01

    To understand the effect of testosterone on sex differentiation, the quantities of testosterone (T) and estradiol-17beta (E2) in developing eggs of medaka (Oryzias latipes) were measured by radioimmunoassay, and the influence on sex differentiation of treating embryos with exogenous androgens was also examined. Endogenous T of eggs dispersed into the environmental water at spawning, and precipitously declined to a minimum level during incubation for 2 days post-fertilization (dpf). It did not significantly increase during development. The E2 content of fertilized eggs increased when eggs were incubated in medium containing exogenous T at the concentrations of 100 and 500 ng/ml, but not in low concentrations of 10 ng/ml or less. The presence of 500 ng/ml 17alpha-methyltestosterone (MT) in the incubation medium also induced an increase in the E2 content of embryos. Exposure of embryos to exogenous 1 ng/ml T that corresponded with the level of T in eggs shortly after fertilization was enough to induce sex reversal of genotypic females to functional males. The co-existence of T and aromatase inhibitor in incubation medium inhibited not only the T-induced increase in the embryonic E2 content, but also the estrogenic effect of T in causing the paradoxical sex reversal from genotypic males to phenotypic females. However, treatment of embryos with the non-aromatizable androgen, 17alpha-methyldihydrotestosterone, induced no detectable increase in the E2 content of embryos, but still brought about sex reversal of genotypic males into females. This contradictory result suggests that the conversion of androgens to E2 may not always be the cause for induction of paradoxical sex reversal by T treatment. Consequently, these results on sex reversal induced by treatment of embryos with exogenous androgens suggest that endogenous T of developing medaka embryos may not act as the natural andro-inducer, and that genotypic sex can be modified by exogenous sex steroids at early

  6. [Sex, gender and health: developments in scientific research].

    PubMed

    Lagro-Janssen, A L M

    2007-02-10

    The feminist movement was involved from its start in the struggle for better healthcare for women. The academic discipline 'Women's studies medical sciences', which developed in the 1980's, supported this struggle. Initial points given special attention in this new discipline were the autonomy of the (female) patient, the importance of the psychosocial context of symptoms and the demedicalisation of women's complaints. The focus of research has now shifted from reproductive health to female health during the entire lifespan. Furthermore, research has developed from female health to gender in relation to health, explicitly including men's health and the social constructions of masculinity. The psychosocial context ofgender-related complaints is of importance. Next, the concept 'gender' was replaced by the concept of'diversity', thus facilitating criticism of the ongoing medical concepts of neutrality and universality. In the future, research should be interdisciplinary, with explicit attention for the differences between men and women and the psychosocial context.

  7. Sex differences in fuel use and metabolism during development in fasting juvenile northern elephant seals.

    PubMed

    Kelso, Elizabeth J; Champagne, Cory D; Tift, Michael S; Houser, Dorian S; Crocker, Daniel E

    2012-08-01

    Many polygynous, capital breeders exhibit sexual dimorphism with respect to body size and composition. Sexual dimorphism is often facilitated by sex differences in foraging behavior, growth rates and patterns of nutrient deposition during development. In species that undergo extended fasts during development, metabolic strategies for fuel use have the potential to influence future reproductive success by directly impacting somatic growth and acquisition of traits required for successful breeding. We investigated sexual dimorphism associated with metabolic strategies for fasting in developing northern elephant seals. Thirty-one juvenile seals of both sexes were sampled over extended fasts during annual autumn haul-outs. Field metabolic rate (FMR) and the contribution of protein catabolism to energy expenditure were estimated from changes in mass and body composition over 23±5 days of fasting (mean ± s.d.). Protein catabolism was assessed directly in a subset of animals based on urea flux at the beginning and end of the fast. Regulatory hormones and blood metabolites measured included growth hormone, cortisol, thyroxine, triiodothyronine, insulin, glucagon, testosterone, estradiol, glucose, urea and β-hydroxybutyrate. Males exhibited higher rates of energy expenditure during the fast but spared body protein stores more effectively than females. Rates of protein catabolism and energy expenditure were significantly impacted by hormone levels, which varied between the sexes. These data suggest that sex differences in fuel metabolism and energy expenditure during fasting arise early in juvenile development and may play an important role in the development of adult traits associated with reproductive success.

  8. Imaging and examination strategies of normal male and female sex development and anatomy.

    PubMed

    Wünsch, Lutz; Schober, Justine M

    2007-09-01

    Over recent years a variety of new details on the developmental biology of sexual differentiation has been discovered. Moreover, important advances have been made in imaging and examination strategies for urogenital organs, and these have added new knowledge to our understanding of the 'normal' anatomy of the sexes. Both aspects contribute to the comprehension of phenotypic sex development, but they are not commonly presented in the same context. This will be attempted in this chapter, which aims to link discoveries in developmental biology to anatomical details shown by modern examination techniques. A review of the literature concerning the link between sexual development and imaging of urogenital organs was performed. Genes, proteins and pathways related to sexual differentiation were related to some organotypic features revealed by clinical examination techniques. Early 'organotypic' patterns can be identified in prostatic, urethral and genital development and followed into postnatal life. New imaging and endoscopy techniques allow for detailed descriptive anatomical studies, hopefully resulting in a broader understanding of sex development and a better genotype-phenotype correlation in defined disorders. Clinical description relying on imaging techniques should be related to knowledge of the genetic and endocrine factors influencing sex development in a specific and stepwise manner.

  9. Tribolium castaneum Transformer-2 regulates sex determination and development in both males and females.

    PubMed

    Shukla, Jayendra Nath; Palli, Subba Reddy

    2013-12-01

    Tribolium castaneum Transformer (TcTra) is essential for female sex determination and maintenance through the regulation of sex-specific splicing of doublesex (dsx) pre-mRNA. In females, TcTra also regulates the sex-specific splicing of its own pre-mRNA to ensure continuous production of functional Tra protein. Transformer protein is absent in males and hence dsx pre-mRNA is spliced in a default mode. The mechanisms by which males inhibit the production of functional Tra protein are not known. Here, we report on functional characterization of transformer-2 (tra-2) gene (an ortholog of Drosophila transformer-2) in T. castaneum. RNA interference-mediated knockdown in the expression of gene coding for tra-2 in female pupae or adults resulted in the production of male-specific isoform of dsx and both female and male isoforms of tra suggesting that Tra-2 is essential for the female-specific splicing of tra and dsx pre-mRNAs. Interestingly, knockdown of tra-2 in males did not affect the splicing of dsx but resulted in the production of both female and male isoforms of tra suggesting that Tra-2 suppresses female-specific splicing of tra pre-mRNA in males. This dual regulation of sex-specific splicing of tra pre-mRNA ensures a tight regulation of sex determination and maintenance. These data suggest a critical role for Tra-2 in suppression of female sex determination cascade in males. In addition, RNAi studies showed that Tra-2 is also required for successful embryonic and larval development in both sexes.

  10. Sex-Specificity of Mineralocorticoid Target Gene Expression during Renal Development, and Long-Term Consequences

    PubMed Central

    Dumeige, Laurence; Storey, Caroline; Decourtye, Lyvianne; Nehlich, Melanie; Lhadj, Christophe; Viengchareun, Say; Kappeler, Laurent; Lombès, Marc; Martinerie, Laetitia

    2017-01-01

    Sex differences have been identified in various biological processes, including hypertension. The mineralocorticoid signaling pathway is an important contributor to early arterial hypertension, however its sex-specific expression has been scarcely studied, particularly with respect to the kidney. Basal systolic blood pressure (SBP) and heart rate (HR) were measured in adult male and female mice. Renal gene expression studies of major players of mineralocorticoid signaling were performed at different developmental stages in male and female mice using reverse transcription quantitative PCR (RT-qPCR), and were compared to those of the same genes in the lung, another mineralocorticoid epithelial target tissue that regulates ion exchange and electrolyte balance. The role of sex hormones in the regulation of these genes was also investigated in differentiated KC3AC1 renal cells. Additionally, renal expression of the 11 β-hydroxysteroid dehydrogenase type 2 (11βHSD2) protein, a regulator of mineralocorticoid specificity, was measured by immunoblotting and its activity was indirectly assessed in the plasma using liquid-chromatography coupled to mass spectrometry in tandem (LC-MSMS) method. SBP and HR were found to be significantly lower in females compared to males. This was accompanied by a sex- and tissue-specific expression profile throughout renal development of the mineralocorticoid target genes serum and glucocorticoid-regulated kinase 1 (Sgk1) and glucocorticoid-induced leucine zipper protein (Gilz), together with Hsd11b2, Finally, the implication of sex hormones in this sex-specific expression profile was demonstrated in vitro, most notably for Gilz mRNA expression. We demonstrate a tissue-specific, sex-dependent and developmentally-regulated pattern of expression of the mineralocorticoid pathway that could have important implications in physiology and pathology. PMID:28230786

  11. The role of age-sex interaction in the development of post-herpetic neuralgia.

    PubMed

    Amicizia, Daniela; Domnich, Alexander; Arata, Lucia; Zoli, Daniela; Zotti, Carla Maria; Cacello, Elena; Gualano, Maria Rosaria; Gasparini, Roberto; Panatto, Donatella

    2017-02-01

    Post-herpetic neuralgia is the most frequent complication of herpes zoster and affects up to 30% of patients. Increased age is a well-recognized risk factor, while the role of gender is highly uncertain. Little research has been performed into a possible combined effect of age and sex in post-herpetic neuralgia. The objective of the study was to study the role of age and sex and their combined effect in the development of post-herpetic neuralgia. This retrospective study enrolled adult subjects with at least one episode of herpes zoster in the previous 10 y. A questionnaire on the patient's socio-demographic, anamnestic and clinical characteristics was administered by general practitioners. Multivariable logistic regression was used to detect relationships between post-herpetic neuralgia and age, sex and their interaction. Fifty-nine of 272 patients reported post-herpetic neuralgia: a prevalence of 21.7%. Subjects with post-herpetic neuralgia (mean age 70.9 years) were significantly older (P = .001) than those without (64.2 years), the standardised mean difference being 0.5; no significant between-sex association was revealed (P = .96). A fully adjusted multivariable logistic analysis, however, revealed a highly significant (P = .007) age-sex interaction, with an odds ratio of 0.92; this also showed that older males were more likely to report post-herpetic neuralgia than younger males, while no obvious age-associated pattern was observed among females. We discerned a significant age-by-sex interaction in the development of post-herpetic neuralgia, which suggests that the effect of age on the development of this condition may differ between men and women.

  12. Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development.

    PubMed

    Jørgensen, Anne; Lindhardt Johansen, Marie; Juul, Anders; Skakkebaek, Niels E; Main, Katharina M; Rajpert-De Meyts, Ewa

    2015-09-01

    Development of human gonads is a sex-dimorphic process which evolved to produce sex-specific types of germ cells. The process of gonadal sex differentiation is directed by the action of the somatic cells and ultimately results in germ cells differentiating to become functional gametes through spermatogenesis or oogenesis. This tightly controlled process depends on the proper sequential expression of many genes and signalling pathways. Disturbances of this process can be manifested as a large spectrum of disorders, ranging from severe disorders of sex development (DSD) to - in the genetic male - mild reproductive problems within the testicular dysgenesis syndrome (TDS), with large overlap between the syndromes. These disorders carry an increased but variable risk of germ cell neoplasia. In this review, we discuss the pathogenesis of germ cell neoplasia associated with gonadal dysgenesis, especially in individuals with 46,XY DSD. We summarise knowledge concerning development and sex differentiation of human gonads, with focus on sex-dimorphic steps of germ cell maturation, including meiosis. We also briefly outline the histopathology of germ cell neoplasia in situ (GCNIS) and gonadoblastoma (GDB), which are essentially the same precursor lesion but with different morphological structure dependent upon the masculinisation of the somatic niche. To assess the risk of germ cell neoplasia in different types of DSD, we have performed a PubMed search and provide here a synthesis of the evidence from studies published since 2006. We present a model for pathogenesis of GCNIS/GDB in TDS/DSD, with the risk of malignancy determined by the presence of the testis-inducing Y chromosome and the degree of masculinisation. The associations between phenotype and the risk of neoplasia are likely further modulated in each individual by the constellation of the gene polymorphisms and environmental factors.

  13. Sex-biased gene expression during head development in a sexually dimorphic stalk-eyed fly.

    PubMed

    Wilkinson, Gerald S; Johns, Philip M; Metheny, Jackie D; Baker, Richard H

    2013-01-01

    Stalk-eyed flies (family Diopsidae) are a model system for studying sexual selection due to the elongated and sexually dimorphic eye-stalks found in many species. These flies are of additional interest because their X chromosome is derived largely from an autosomal arm in other flies. To identify candidate genes required for development of dimorphic eyestalks and investigate how sex-biased expression arose on the novel X, we compared gene expression between males and females using oligonucleotide microarrays and RNA from developing eyestalk tissue or adult heads in the dimorphic diopsid, Teleopsis dalmanni. Microarray analysis revealed sex-biased expression for 26% of 3,748 genes expressed in eye-antennal imaginal discs and concordant sex-biased expression for 86 genes in adult heads. Overall, 415 female-biased and 482 male-biased genes were associated with dimorphic eyestalk development but not differential expression in the adult head. Functional analysis revealed that male-biased genes are disproportionately associated with growth and mitochondrial function while female-biased genes are associated with cell differentiation and patterning or are novel transcripts. With regard to chromosomal effects, dosage compensation occurs by elevated expression of X-linked genes in males. Genes with female-biased expression were more common on the X and less common on autosomes than expected, while male-biased genes exhibited no chromosomal pattern. Rates of protein evolution were lower for female-biased genes but higher for genes that moved on or off the novel X chromosome. These findings cannot be due to meiotic sex chromosome inactivation or by constraints associated with dosage compensation. Instead, they could be consistent with sexual conflict in which female-biased genes on the novel X act primarily to reduce eyespan in females while other genes increase eyespan in both sexes. Additional information on sex-biased gene expression in other tissues and related sexually

  14. The role of age-sex interaction in the development of post-herpetic neuralgia

    PubMed Central

    Cacello, Elena

    2017-01-01

    ABSTRACT Post-herpetic neuralgia is the most frequent complication of herpes zoster and affects up to 30% of patients. Increased age is a well-recognized risk factor, while the role of gender is highly uncertain. Little research has been performed into a possible combined effect of age and sex in post-herpetic neuralgia. The objective of the study was to study the role of age and sex and their combined effect in the development of post-herpetic neuralgia. This retrospective study enrolled adult subjects with at least one episode of herpes zoster in the previous 10 y. A questionnaire on the patient's socio-demographic, anamnestic and clinical characteristics was administered by general practitioners. Multivariable logistic regression was used to detect relationships between post-herpetic neuralgia and age, sex and their interaction. Fifty-nine of 272 patients reported post-herpetic neuralgia: a prevalence of 21.7%. Subjects with post-herpetic neuralgia (mean age 70.9 years) were significantly older (P = .001) than those without (64.2 years), the standardised mean difference being 0.5; no significant between-sex association was revealed (P = .96). A fully adjusted multivariable logistic analysis, however, revealed a highly significant (P = .007) age-sex interaction, with an odds ratio of 0.92; this also showed that older males were more likely to report post-herpetic neuralgia than younger males, while no obvious age-associated pattern was observed among females. We discerned a significant age-by-sex interaction in the development of post-herpetic neuralgia, which suggests that the effect of age on the development of this condition may differ between men and women. PMID:28215122

  15. Disruption of Ah Receptor Signaling during Mouse Development Leads to Abnormal Cardiac Structure and Function in the Adult

    PubMed Central

    Carreira, Vinicius S.; Fan, Yunxia; Kurita, Hisaka; Wang, Qin; Ko, Chia-I; Naticchioni, Mindi; Jiang, Min; Koch, Sheryl; Zhang, Xiang; Biesiada, Jacek; Medvedovic, Mario; Xia, Ying; Rubinstein, Jack; Puga, Alvaro

    2015-01-01

    The Developmental Origins of Health and Disease (DOHaD) Theory proposes that the environment encountered during fetal life and infancy permanently shapes tissue physiology and homeostasis such that damage resulting from maternal stress, poor nutrition or exposure to environmental agents may be at the heart of adult onset disease. Interference with endogenous developmental functions of the aryl hydrocarbon receptor (AHR), either by gene ablation or by exposure in utero to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), a potent AHR ligand, causes structural, molecular and functional cardiac abnormalities and altered heart physiology in mouse embryos. To test if embryonic effects progress into an adult phenotype, we investigated whether Ahr ablation or TCDD exposure in utero resulted in cardiac abnormalities in adult mice long after removal of the agent. Ten-months old adult Ahr-/- and in utero TCDD-exposed Ahr+/+ mice showed sexually dimorphic abnormal cardiovascular phenotypes characterized by echocardiographic findings of hypertrophy, ventricular dilation and increased heart weight, resting heart rate and systolic and mean blood pressure, and decreased exercise tolerance. Underlying these effects, genes in signaling networks related to cardiac hypertrophy and mitochondrial function were differentially expressed. Cardiac dysfunction in mouse embryos resulting from AHR signaling disruption seems to progress into abnormal cardiac structure and function that predispose adults to cardiac disease, but while embryonic dysfunction is equally robust in males and females, the adult abnormalities are more prevalent in females, with the highest severity in Ahr-/- females. The findings reported here underscore the conclusion that AHR signaling in the developing heart is one potential target of environmental factors associated with cardiovascular disease. PMID:26555816

  16. Importance of support groups for intersex (disorders of sex development) patients, families and the medical profession.

    PubMed

    Cull, M L; Simmonds, M

    2010-09-01

    Taboo still surrounds intersex/disorders of sex development, in spite of more openness in society regarding sex. Peer support is valuable in providing information and emotional support to those affected. Support groups also work with clinicians to promote better care, to assist with research studies and to increase clinical awareness and expertise by helping to stage symposia. They also foster greater public understanding via media involvement and training videos; and play an advocacy role, providing one voice to channel the concerns of a scattered population with these rare conditions.

  17. Environmentally relevant concentrations of ammonium perchlorate inhibit thyroid function and alter sex ratios in developing Xenopus laevis.

    PubMed

    Goleman, Wanda L; Carr, James A; Anderson, Todd A

    2002-03-01

    Embryos and larvae of the South African frog Xenopus laevis were exposed to ammonium perchlorate (AP) or control medium for 70 d. The dosage levels (59 ppb, 14,140 ppb) bracketed a range of perchlorate concentrations measured in surface waters at the Longhorn Army Ammunition Plant (LHAAP) in Karnack, Texas, USA. The experiment also included a 28-d nontreatment recovery period to assess the reversibility of AP effects. There were no significant effects of AP on mortality or hatching success. There were no effects of AP on developmental abnormalities such as bent/asymmetric tails or edema. Ammonium perchlorate inhibited forelimb emergence, the percentage of animals completing tail resorption, and hindlimb development during the 70-d exposure period. Only the upper AP concentration reduced whole-body thyroxine content, whereas both concentrations caused significant hypertrophy of the thyroid follicular epithelium. Both concentrations of AP caused a skewed sex ratio, significantly reducing the percentage of males at metamorphosis. The effects of AP on metamorphosis and thyroid function were reversed during the 28-d nontreatment recovery period. We conclude that AP inhibits thyroid activity and alters gonadal differentiation in developing X. laevis. These effects were observed at concentrations at or below concentrations reported in surface waters contaminated with ammonium perchlorate, suggesting that this contaminant may pose a threat to normal development and growth in natural amphibian populations.

  18. An Examination of Three Theories of Sex Role Development in a Sample of Adoptive Parents.

    ERIC Educational Resources Information Center

    Travis, Cheryl; Francis, Becky

    The purpose of the present study was to assess the explanatory powers of three theories of sex role development: secondary reinforcement through parental nurturance; instrumental conditioning by dating partners; and social learning through observations of outcomes for mothers. Subjects' responses to questionnaire items were utilized to measure the…

  19. The Effects of Single-Parenting on Sex-Role Development: The State of the Art.

    ERIC Educational Resources Information Center

    Stevenson, Michael R.

    Current thought about the effects of single-parenting on children's sex-role development has supported (1) the traditional view that being raised in a single-parent home is deleterious to the well-being of children; (2) the conditional view noting that differences exist between children in father-absent and father-present homes (but only in…

  20. Sex Variations in Youth Anxiety Symptoms: Effects of Pubertal Development and Gender Role Orientation

    ERIC Educational Resources Information Center

    Carter, Rona; Silverman, Wendy K.; Jaccard, James

    2011-01-01

    This study evaluated whether pubertal development and gender role orientation (i.e., masculinity and femininity) can partially explain sex variations in youth anxiety symptoms among clinic-referred anxious youth (N = 175; ages 9-13 years; 74% Hispanic; 48% female). Using youth and parent ratings of youth anxiety symptoms, structural equation…

  1. The Treatment of Sex Roles. Guidelines for the Development of Elementary and Secondary Instructional Materials.

    ERIC Educational Resources Information Center

    Holt, Rinehart & Winston, New York, NY.

    Arranged in three sections, this pamphlet outlines publishers' guidelines for developing nonsexist instructional materials for elementary and secondary school use. Section 1 details the following strategies for expanding and balancing the role models of both sexes in instructional literature: illustrations reflecting a variety of dress and…

  2. Adult Development and Life Satisfaction Functions of Sex, Marital Status and Age.

    ERIC Educational Resources Information Center

    Coles, Claire; McCall, Fran

    Quality of life in adulthood (ages 27-47) was investigated; age, marital status and sex were considered the primary variables. Attention was given to the consideration of the current crises-oriented theory of adult development. The interrelationship of the variables was of principle interest in assessing life satisfaction and personality…

  3. Two males with SRY-positive 46,XX testicular disorder of sex development.

    PubMed

    Gunes, Sezgin; Asci, Ramazan; Okten, Gülsen; Atac, Fatih; Onat, Onur E; Ogur, Gonul; Aydin, Oguz; Ozcelik, Tayfun; Bagci, Hasan

    2013-02-01

    The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

  4. Sex differences in the developing brain as a source of inherent risk

    PubMed Central

    McCarthy, Margaret M.

    2016-01-01

    Brain development diverges in males and females in response to androgen production by the fetal testis. This sexual differentiation of the brain occurs during a sensitive window and induces enduring neuroanatomical and physiological changes that profoundly impact behavior. What we know about the contribution of sex chromosomes is still emerging, highlighting the need to integrate multiple factors into understanding sex differences, including the importance of context. The cellular mechanisms are best modeled in rodents and have provided both unifying principles and surprising specifics. Markedly distinct signaling pathways direct differentiation in specific brain regions, resulting in mosaicism of relative maleness, femaleness, and sameness through-out the brain, while canalization both exaggerates and constrains sex differences. Non-neuronal cells and inflammatory mediators are found in greater number and at higher levels in parts of male brains. This higher baseline of inflammation is speculated to increase male vulnerability to developmental neuropsychiatric disorders that are triggered by inflammation. PMID:28179808

  5. Sex differences in the developing brain as a source of inherent risk.

    PubMed

    McCarthy, Margaret M

    2016-12-01

    Brain development diverges in males and females in response to androgen production by the fetal testis. This sexual differentiation of the brain occurs during a sensitive window and induces enduring neuroanatomical and physiological changes that profoundly impact behavior. What we know about the contribution of sex chromosomes is still emerging, highlighting the need to integrate multiple factors into understanding sex differences, including the importance of context. The cellular mechanisms are best modeled in rodents and have provided both unifying principles and surprising specifics. Markedly distinct signaling pathways direct differentiation in specific brain regions, resulting in mosaicism of relative maleness, femaleness, and sameness through-out the brain, while canalization both exaggerates and constrains sex differences. Non-neuronal cells and inflammatory mediators are found in greater number and at higher levels in parts of male brains. This higher baseline of inflammation is speculated to increase male vulnerability to developmental neuropsychiatric disorders that are triggered by inflammation.

  6. IVF affects embryonic development in a sex-biased manner in mice.

    PubMed

    Tan, Kun; Wang, Zhuqing; Zhang, Zhenni; An, Lei; Tian, Jianhui

    2016-04-01

    Increasing evidence indicates that IVF (IVF includes in vitro fertilization and culture) embryos and babies are associated with a series of health complications, and some of them show sex-dimorphic patterns. Therefore, we hypothesized that IVF procedures have sex-biased or even sex-specific effects on embryonic and fetal development. Here, we demonstrate that IVF-induced side effects show significant sexual dimorphic patterns from the pre-implantation to the prenatal stage. During the pre-implantation stage, female IVF embryos appear to be more vulnerable to IVF-induced effects, including an increased percentage of apoptosis (7.22 ± 1.94 vs 0.71 ± 0.76, P<0.01), and dysregulated expression of representative sex-dimorphic genes (Xist, Hprt, Pgk1 and Hsp70). During the mid-gestation stage, IVF males had a higher survival rate than IVF females at E13.5 (male:female=1.33:1), accompanied with a female-biased pregnancy loss. In addition, while both IVF males and females had reduced placental vasculogenesis/angiogenesis, the compensatory placental overgrowth was more evident in IVF males. During the late-gestation period, IVF fetuses had a higher sex ratio (male:female=1.48:1) at E19.5, and both male and female IVF placentas showed overgrowth. After birth, IVF males grew faster than their in vivo (IVO) counterparts, while IVF females showed a similar growth pattern with IVO females. The present study provides a new insight into understanding IVF-induced health complications during embryonic and fetal development. By understanding and minimizing these sex-biased effects of the IVF process, the health of IVF-conceived babies may be improved in the future.

  7. Development and evaluation of deep intra-uterine artificial insemination using cryopreserved sexed spermatozoa in bottlenose dolphins (Tursiops truncatus).

    PubMed

    Robeck, Todd R; Montano, G A; Steinman, K J; Smolensky, P; Sweeney, J; Osborn, S; O'Brien, J K

    2013-06-01

    Since its development in bottlenose dolphins, widespread application of AI with sex-selected, frozen-thawed (FT) spermatozoa has been limited by the significant expense of the sorting process. Reducing the total number of progressively motile sperm (PMS) required for an AI would reduce the sorting cost. As such, this research compared the efficacy of small-dose deep uterine AI with sexed FT spermatozoa (SEXED-SMALL; ~50×10(6)PMS, n=20), to a moderate dose deposited mid-horn (SEXED-STD, ~200×10(6)PMS; n=20), and a large dose of FT non-sexed spermatozoa deposited in the uterine body (NONSEXED-LARGE, 660×10(6)PMS, n=9). Ten of the 11 calves resulting from use of sexed spermatozoa were of the predetermined sex. Similar rates of conception (NONSEXED-LARGE: 78%, SEXED-STD: 60%, SEXED-SMALL: 57%) and total pregnancy loss (TPL: NONSEXED-LARGE: 28.6%; SEXED-STD: 41.0%; SEXED-SMALL: 63.6%) were observed across groups, but early pregnancy loss (EPL, SEXED-SMALL (54.5%) compared to NONSEXED-LARGE (0%). Animals experiencing EPL were older (31.3 y, P=0.007) than those that calved (21.4y) or did not conceive (19.4y). After excluding females ≥25y, SEXED-SMALL (15.4%) had a tendency for having reduced calving rates compared to NONSEXED-LARGE (50.0%; P=0.08), while SEXED-STD did not differ (40.0%, 4/10; P=0.341). Current findings indicate that acceptable conception and calving rates using sexed FT spermatozoa are achieved after mid-horn deposition of 200×10(6) PMS, when used with females aged less than 25 y.

  8. When hormone defects cannot explain it: malformative disorders of sex development.

    PubMed

    Grinspon, Romina P; Rey, Rodolfo A

    2014-12-01

    The birth of a baby with malformations of the genitalia urges medical action. Even in cases where the condition is not life-threatening, the identification of the external genitalia as male or female is emotionally essential for the family, and genital malformations represent one of the most stressful situations around a newborn. The female or male configuration of the genitalia normally evolves during fetal life according to the genetic, gonadal, and hormonal sex. Disorders of sex development occur when male hormone (androgens and anti-Müllerian hormone) secretion or action is insufficient in the 46,XY fetus or when there is an androgen excess in the 46,XX fetus. However, sex hormone defects during fetal development cannot explain all congenital malformations of the reproductive tract. This review is focused on those congenital conditions in which gonadal function and sex hormone target organ sensitivity are normal and, therefore, not responsible for the genital malformation. Furthermore, because the reproductive and urinary systems share many common pathways in embryo-fetal development, conditions associating urogenital malformations are discussed.

  9. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.

    PubMed

    Arboleda, V A; Lee, H; Sánchez, F J; Délot, E C; Sandberg, D E; Grody, W W; Nelson, S F; Vilain, E

    2013-01-01

    Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected patients. We created a novel DSD-genetic diagnostic tool, in which sex development genes are captured using RNA probes and undergo massively parallel sequencing. In the pilot group of 14 patients, we determined sex chromosome dosage, copy number variation, and gene mutations. In the patients with a known genetic diagnosis (obtained either on a clinical or research basis), this test identified the molecular cause in 100% (7/7) of patients. In patients in whom no molecular diagnosis had been made, this tool identified a genetic diagnosis in two of seven patients. Targeted sequencing of genes representing a specific spectrum of disorders can result in a higher rate of genetic diagnoses than current diagnostic approaches. Our DSD diagnostic tool provides for first time, in a single blood test, a comprehensive genetic diagnosis in patients presenting with a wide range of urogenital anomalies.

  10. Exploring the Development of Existing Sex Education Programmes for People with Intellectual Disabilities: An Intervention Mapping Approach

    ERIC Educational Resources Information Center

    Schaafsma, Dilana; Stoffelen, Joke M. T.; Kok, Gerjo; Curfs, Leopold M. G.

    2013-01-01

    Background: People with intellectual disabilities face barriers that affect their sexual health. Sex education programmes have been developed by professionals working in the field of intellectual disabilities with the aim to overcome these barriers. The aim of this study was to explore the development of these programmes. Methods: Sex education…

  11. Psychological Aspects of the Treatment of Patients with Disorders of Sex Development

    PubMed Central

    Sandberg, David E.; Gardner, Melissa; Cohen-Kettenis, Peggy T.

    2013-01-01

    Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery. This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages. PMID:23044882

  12. Skeletal development and abnormalities of the vertebral column and of the fins in hatchery-reared turbot Scophthalmus maximus.

    PubMed

    Tong, X H; Liu, Q H; Xu, S H; Ma, D Y; Xiao, Z Z; Xiao, Y S; Li, J

    2012-03-01

    To describe the skeletal development and abnormalities in turbot Scophthalmus maximus, samples were collected every day from hatching to 60 days after hatching (DAH). A whole-mount cartilage and bone-staining technique was used. Vertebral ontogeny started with the formation of anterior haemal arches at 5·1 mm standard length (L(S) ) c. 11 DAH, and was completed by the full attainment of parapophyses at 16·9 mm L(S) c. 31 DAH. Vertebral centra started to develop at 6·3 mm L(S) c. 16 DAH and ossification in all centra was visible at 11·0 mm L(S) c. 25 DAH. The caudal fin appeared at 5·1 mm L(S) c. 11 DAH and ossification was visible at 20·6 mm L(S) c. 37 DAH. The onset of dorsal and anal fin elements appeared at 5·8 mm L(S) c. 15 DAH and 6·3 mm L(S) c. 16 DAH, respectively. Ossifications of both dorsal fin and anal fin were visible at 20·6 mm L(S) c. 37 DAH. The pectorals were the only fins present before first feeding, their ossifications were completed at 23·5 mm L(S) c. 48 DAH. Pelvic fins began forming at 7·2 mm L(S) c. 19 DAH and calcification of the whole structure was visible at 19·8 mm L(S) c. 36 DAH. In the present study, 24 types of skeletal abnormalities were observed. About 51% of individuals presented skeletal abnormalities, and the highest occurrence was found in the haemal region of the vertebral column. As for each developmental stage, the most common abnormalities were in the dorsal fin during early metamorphic period (stage 2), vertebral fusion during climax metamorphosis (stage 3) and caudal fin abnormality during both late-metamorphic period (stage 4) and post-metamorphic period (stage 5). Such research will be useful for early detection of skeletal malformations during different growth periods of reared S. maximus.

  13. Surgical options in disorders of sex development (dsd) with ambiguous genitalia.

    PubMed

    Vidal, Isabelle; Gorduza, Daniela Brindusa; Haraux, Elodie; Gay, Claire-Lise; Chatelain, Pierre; Nicolino, Marc; Mure, Pierre-Yves; Mouriquand, Pierre

    2010-04-01

    Disorders of sexual development (DSD) include three main groups of patients: (1) The virilised 46,XX DSD essentially represented by congenital adrenal hyperplasia (CAH) ; (2) The undervirilised 46,XY DSD essentially represented by hypospadias; and (3) the chromosomic jigsaws essentially represented by mixed gonadal dysgenesis. It is in this last group that gender assignment remains a difficult decision involving various indicators, which can be split into four categories: (1) the inside sex (i.e., genes, hormones and target tissues); (2) the outside sex (i.e., anatomy of genitalia including size of the genital tubercle, mullerian cavity and potential adult height of the patient); (3) the functional sex (i.e., potential sexuality and fertility); and (4) and the social sex (i.e., the cultural medium in which the child is brought up). The challenge is to outline the future individual identity of the child in the postnatal period using these indicators. Current evolutions of surgical techniques of 'feminisation' and 'masculinisation' are described as well as their outcomes.

  14. Planeando Tu Vida: sex and family life education: fundamentals of development, implementation, and evaluation.

    PubMed

    Pick De Weiss, S; Givaudan, M; Givaudan, S

    1993-01-01

    Misinformation about sexuality, reproduction, and contraception is widespread among Mexican adolescents and existing sex education programs have been limited in both scope and availability. To address this situation, the Instituto Mexicano de Investigacion de Familia y Poblacion (IMIFAP) designed a comprehensive sex education program based on data gathered in a 1986 diagnostic survey of 865 adolescents 12-19 years of age and interviews with 365 pregnant adolescents. As part of this preliminary research, one group of teens was exposed to a traditional sex education course while another participated in a program that used participatory learning techniques and emphasized communication skills, assertiveness training, value clarification, peer support, and decision making processes. The latter, more effective approach served as the basis for design of a course, Planeando Tu Vida. Operational evaluations of this course conducted at completion and four and eight months later indicated significant increases in knowledge about contraception, but no effect on age at first intercourse. On the other hand, adolescent males who took the course before onset of sexual activity were significantly more likely to use contraceptives at first intercourse than those in traditional courses. This finding underscores the importance of early initiation of sex education programs. To date, the curriculum has been used in over 100 public and private schools, reaching more than 30,000 adolescents. IMIFAP has since developed more than 70 additional health education course guides aimed at children from preschool through high school, all of which emphasize a participatory approach to learning.

  15. Effect of rearing temperatures during embryonic development on the phenotypic sex in zebrafish (Danio rerio).

    PubMed

    Abozaid, H; Wessels, S; Hörstgen-Schwark, G

    2011-01-01

    In zebrafish, Danio rerio, a polygenic pattern of sex determination or a female heterogamety with possible influences of environmental factors is assumed. The present study focuses on the effects of an elevated water temperature (35° C) during the embryonic development on sex determination in zebrafish. Eggs derived from 3 golden females were fertilized by the same mitotic gynogenetic male and exposed to a water temperature of 35° C, applied from 5 to 10 h post fertilization (hpf), from 5 to 24 hpf, and from 5 to 48 hpf, which correspond to the following developmental stages: gastrula, gastrula to segmentation, and gastrula to pharyngula stage, respectively. Hatching and survival rates decreased with increasing exposure to high water temperatures. Reductions in the hatching and survival rates were not responsible for differences in sex ratios. Accordingly, exposition of the fertilized eggs to a high temperature (35° C) leads to an increase of the male proportion from 22.0% in the controls to a balanced sex ratio (48.3, 47.5, and 52.6%) in the gastrula, segmentation, and pharyngula groups, respectively. These results prove the possibility to change the pathway of sexual determination during early embryonic stages in zebrafish by exposure to a high water temperature.

  16. School-Based Sex Education and Neuroscience: What We Know about Sex, Romance, Marriage, and Adolescent Brain Development

    ERIC Educational Resources Information Center

    Ballonoff Suleiman, Ahna; Johnson, Megan; Shirtcliff, Elizabeth A.; Galván, Adriana

    2015-01-01

    Background: Many school-based abstinence-only sex education curricula state that sexual activity outside of marriage is likely to have harmful psychological effects. Recent advances in neuroscience have expanded our understanding of the neural underpinnings of romantic love, marriage, sexual desire, and sexual behavior and improved our…

  17. Substance Abuse and Risky Sex in Young People: The Development and Validation of the Risky Sex Scale.

    ERIC Educational Resources Information Center

    O'Hare, Thomas

    2001-01-01

    In the current study of 361 sexually active undergraduates cited for their first time for university substance abuse violations, confirmatory factor analysis was employed to validate the Risky Sex Scale. A three factor solution appears to fit the data significantly, and three subscales demonstrate good to excellent reliability and vary…

  18. Development and validation of the attitudes toward same-sex marriage scale.

    PubMed

    Pearl, Marcia L; Galupo, M Paz

    2007-01-01

    This research details the development of a new instrument designed to measure attitudes toward same-sex marriage. Participants were 615 heterosexual women and men, drawn from both student and nonstudent adult populations. Four studies were conducted for the purpose of developing the scale and to establish its psychometric properties. The resulting Attitudes Toward Same-Sex Marriage Scale (ATSM) consists of 17 items, has a one-dimensional factor structure, and exhibits a high degree of reliability. Additional analyses established the construct validity of the ATSM where ATSM scores were highly correlated with scores on the Attitudes Toward Lesbians and Gay Men Scale (Herek, 1988). ATSM scores followed predicted correlational patterns with select demographics, including educational attainment, religiosity, and political conservatism. The usefulness of this new measure in survey research is discussed.

  19. Abnormal gene expression in cerebellum of Npc1-/- mice during postnatal development

    PubMed Central

    Liao, Guanghong; Wen, Zhining; Irizarry, Kristopher; Huang, Ying; Mitsouras, Katherine; Darmani, Mariam; Leon, Terry; Shi, Leming; Bi, Xiaoning

    2010-01-01

    Niemann-Pick Type C disease is an autosomal recessive neurodegenerative disorder with abnormal lipid storage as the major cellular pathologic hallmark. Genetic analyses have identified mutations in NPC1 gene in the great majority of cases, while mutations in NPC2 account for the remainders. Yet, little is known regarding the cellular mechanisms responsible for NPC pathogenesis, especially for neurodegeneration, which is the usual cause of death. To identify critical steps that could account for the pathological manifestations of the disease in one of the most affected brain structures, we performed global gene expression analysis in the cerebellum from three-week old Npc1+/+ and Npc1-/- mice with two different microarray platforms (Agilent and Illumina). Differentially-expressed genes identified by both microarray platforms were then subjected to KEGG pathway analysis. Expression of genes in six pathways was significantly altered in Npc1-/- mice; functionally, these signaling pathways belong to the following three categories: 1) steroid and terpenoid biosynthesis, 2) immune response, and 3) cell adhesion/motility. In addition, the expression of several proteins involved in lipid transport was significantly altered in Npc1-/- mice. Our results provide novel molecular insight regarding the mechanisms of pathogenesis in NPC disease and reveal potential new therapeutic targets. PMID:20153740

  20. The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.

    PubMed

    Satterthwaite, Theodore D; Connolly, John J; Ruparel, Kosha; Calkins, Monica E; Jackson, Chad; Elliott, Mark A; Roalf, David R; Ryan Hopsona, Karthik Prabhakaran; Behr, Meckenzie; Qiu, Haijun; Mentch, Frank D; Chiavacci, Rosetta; Sleiman, Patrick M A; Gur, Ruben C; Hakonarson, Hakon; Gur, Raquel E

    2016-01-01

    The Philadelphia Neurodevelopmental Cohort (PNC) is a large-scale study of child development that combines neuroimaging, diverse clinical and cognitive phenotypes, and genomics. Data from this rich resource is now publicly available through the Database of Genotypes and Phenotypes (dbGaP). Here we focus on the data from the PNC that is available through dbGaP and describe how users can access this data, which is evolving to be a significant resource for the broader neuroscience community for studies of normal and abnormal neurodevelopment.

  1. Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation

    PubMed Central

    Finlayson, Courtney; Fritsch, Michael K.; Johnson, Emilie K.; Rosoklija, Ilina; Gosiengfiao, Yasmin; Yerkes, Elizabeth; Madonna, Mary Beth; Woodruff, Teresa K.; Cheng, Earl

    2017-01-01

    Purpose We sought to determine the presence of germ cells in the gonads of patients with disorders of sex development to establish whether preservation of germ cells for future fertility potential is possible. We hypothesized that germ cells are present but vary by age and diagnosis. Materials and Methods We reviewed histology from patients with disorders of sex development who underwent gonadectomy/biopsy from 2002 to 2014 at a single institution for pathological classification of the gonad, composition of gonadal stroma and germ cell presence. Results A total of 44 patients were identified and germ cells were present in 68%. The presence and average number of germ cells per mm2 were analyzed by gonad type and diagnosis. By gonad type all ovotestes, most testes, ovaries and dysgenetic testes, and 15% of streak gonads had germ cells present. By diagnosis germ cells were present in all patients with complete androgen insensitivity syndrome, Denys-Drash syndrome, SRY mutation, mixed gonadal dysgenesis, ovotesticular conditions and StAR (steroid acute regulatory protein) deficiency, in some patients with persistent müllerian duct syndrome, XO/XY Turner syndrome and disorders of sex development not otherwise specified, and in none with complete or partial gonadal dysgenesis. Germ cells were present in the gonads of 88% of patients 0 to 3 years old, 50% of those 4 to 11 years old and 43% of those older than 12 years. Conclusions Germ cells were present in the majority of our cohort and the presence decreased with age. This novel, fertility driven evaluation of germ cell quantity in a variety of disorders of sex development suggests that fertility potential may be greater than previously thought. Further studies must be done to evaluate a larger population and examine germ cell quality to determine the viability of these germ cells. PMID:27840018

  2. THE IMPACT OF COGNITIVE MATURITY ON THE DEVELOPMENT OF SEX-ROLE ATTITUDES IN THE YEARS 4 TO 8.

    ERIC Educational Resources Information Center

    KOHLBERG, LAWRENCE; ZIGLER, EDWARD

    A SERIES OF STUDIES WAS CONDUCTED TO CLARIFY THE ROLE OF INTELLIGENCE IN PERSONALITY ORGANIZATION AND TO ASSESS A COGNITIVE-DEVELOPMENTAL INTERPRETATION OF IQ-PERSONALITY CORRELATIONS. THE SPECIFIC FOCUS OF THE STUDY WAS THE RELATIONSHIP OF INTELLECTUAL MATURITY TO THE DEVELOPMENT OF SEX-ROLE ATTITUDES. AGE-DEVELOPMENTAL TRENDS IN SEX-ROLE…

  3. Sex Differences in Children with Autism Spectrum Disorders Compared with Their Unaffected Siblings and Typically Developing Children

    ERIC Educational Resources Information Center

    Park, Subin; Cho, Soo-Churl; Cho, In Hee; Kim, Boong-Nyun; Kim, Jae-Won; Shin, Min-Sup; Chung, Un-Sun; Park, Tae-Won; Son, Jung-Woo; Yoo, Hee Jeong

    2012-01-01

    This study examined the nature of cognitive and behavioral sex differences in children with autism spectrum disorders (ASDs) and two comparison groups: a group of typically developing (TD) children and a group of unaffected siblings of ASD children. Sex differences in core autistic symptoms, co-occurring behavioral symptoms, and cognitive styles…

  4. Using mouse models to understand normal and abnormal urogenital tract development.

    PubMed

    Mendelsohn, Cathy

    2009-01-01

    Removal of toxic substances from the blood depends on patent connections between the kidneys, ureters and bladder that are established when the ureter is transposed from its original insertion site in the Wolffian duct, to the bladder, its final insertion site. The Ureteral Bud Theory of Mackie and Stephens suggests that repositioning of the ureter orifice occurs as the trigone forms from the common nephric duct (CND), the caudal-most Wolffian duct segment. According to this model, insertion of the CND into the bladder and its expansion into the trigone both repositions the ureter in the bladder and enables it to separate from the Wolffian duct. The availability of new mouse models has enabled to re-examine this hypothesis using morphological analysis and lineage studies to follow the fate of the ureter and CND during the maturation process. We find that in contrast to what has been previously thought, the CND does not differentiate into the trigone but instead, undergoes apoptosis, a step that enables the ureter to separate from the Wolffian duct. Apoptosis occurs as the CND and ureter merge with the urogenital sinus positioning the ureter orifice at a site close to the Wolffian duct. Finally, expansion of the bladder moves the ureter orifice which is now fused with epithelium to its final position which is at the bladder neck. Interestingly, CND apoptosis appears to depend on close proximity to the bladder, suggesting that the bladder may be a source of signals that induce cell death. Together, these studies provide new insights into the normal process of ureter maturation, and shed light on possible causes of obstruction and reflux, ureteral abnormalities that affect 1-2% of the human population.

  5. DLX4 is associated with orofacial clefting and abnormal jaw development

    PubMed Central

    Wu, Di; Mandal, Shyamali; Choi, Alex; Anderson, August; Prochazkova, Michaela; Perry, Hazel; Gil-Da-Silva-Lopes, Vera L.; Lao, Richard; Wan, Eunice; Tang, Paul Ling-Fung; Kwok, Pui-yan; Klein, Ophir; Zhuan, Bian; Slavotinek, Anne M.

    2015-01-01

    Cleft lip and/or palate (CL/P) are common structural birth defects in humans. We used exome sequencing to study a patient with bilateral CL/P and identified a single nucleotide deletion in the patient and her similarly affected son—c.546_546delG, predicting p.Gln183Argfs*57 in the Distal-less 4 (DLX4) gene. The sequence variant was absent from databases, predicted to be deleterious and was verified by Sanger sequencing. In mammals, there are three Dlx homeobox clusters with closely located gene pairs (Dlx1/Dlx2, Dlx3/Dlx4, Dlx5/Dlx6). In situ hybridization showed that Dlx4 was expressed in the mesenchyme of the murine palatal shelves at E12.5, prior to palate closure. Wild-type human DLX4, but not mutant DLX4_c.546delG, could activate two murine Dlx conserved regulatory elements, implying that the mutation caused haploinsufficiency. We showed that reduced DLX4 expression after short interfering RNA treatment in a human cell line resulted in significant up-regulation of DLX3, DLX5 and DLX6, with reduced expression of DLX2 and significant up-regulation of BMP4, although the increased BMP4 expression was demonstrated only in HeLa cells. We used antisense morpholino oligonucleotides to target the orthologous Danio rerio gene, dlx4b, and found reduced cranial size and abnormal cartilaginous elements. We sequenced DLX4 in 155 patients with non-syndromic CL/P and CP, but observed no sequence variants. From the published literature, Dlx1/Dlx2 double homozygous null mice and Dlx5 homozygous null mice both have clefts of the secondary palate. This first finding of a DLX4 mutation in a family with CL/P establishes DLX4 as a potential cause of human clefts. PMID:25954033

  6. Sex-specific development of spatial orientation is independent of peripubertal gonadal steroids.

    PubMed

    Wojniusz, Slawomir; Ropstad, Erik; Evans, Neil; Robinson, Jane; Solbakk, Anne-Kristin; Endestad, Tor; Haraldsen, Ira Ronit Hebold

    2013-09-01

    Prenatal exposure to androgens has been shown to modulate brain development, resulting in changed behavioral attitudes, sexual orientation and cognitive functions, including processing of spatial information. Whether later changes in gonadotropic hormones during puberty induce further organizational effects within the brain is still insufficiently understood. The purpose of this study was to assess development of spatial orientation before and after the time of normal pubertal development, in an ovine model where half of the animals did not undergo typical reproductive maturation due to the pharmacological blockade of gonadotropin releasing hormone receptor (GnRHR) signaling. The study formed part of a larger trial and utilized 46 pairs of same sex Scottish Mule Texel Cross twins (22 female and 24 male). One twin remained untreated throughout (control) while the other received a subcutaneous GnRH agonist (GnRHa: Goserelin-Acetate) implant every fourth week. GnRHa treatment began at eight and 28 weeks of age, in males and females respectively, because the timing of the pubertal transition is sexually differentiated in sheep as it is in humans. Spatial orientation was assessed at three different time points: eight weeks of age, before puberty and treatment in both sexes; 28 weeks of age, after 20 weeks GnRHa treatment in males and before puberty and GnRHa treatment in females; and at 48 weeks of age, which is after the normal time of the pubertal transition in both sexes. Spatial orientation was tested in a spatial maze with traverse time as the main outcome measure. GnRHa treatment did not affect spatial maze performance as no significant differences in traverse time between treated and untreated animals were observed at any time-point. Adolescent females (48 weeks of age) traversed the maze significantly faster than adolescent males, whereas no sex differences in traverse time were seen at earlier developmental stages (eight and 28 weeks). Development of sex

  7. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

    PubMed

    Downs, Louise M; Scott, Erin M; Cideciyan, Artur V; Iwabe, Simone; Dufour, Valerie; Gardiner, Kristin L; Genini, Sem; Marinho, Luis Felipe; Sumaroka, Alexander; Kosyk, Mychajlo S; Swider, Malgorzata; Aguirre, Geoffrey K; Jacobson, Samuel G; Beltran, William A; Aguirre, Gustavo D

    2016-10-01

    Ciliary defects can result in severe disorders called ciliopathies. Mutations in NPHP5 cause a ciliopathy characterized by severe childhood onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease. Using the canine NPHP5-LCA model we compared human and canine retinal phenotypes, and examined the early stages of photoreceptor development and degeneration, the kinetics of photoreceptor loss, the progression of degeneration and the expression profiles of selected genes. NPHP5-mutant dogs recapitulate the human phenotype of very early loss of rods, and relative retention of the central retinal cone photoreceptors that lack function. In mutant dogs, rod and cone photoreceptors have a sensory cilium, but develop and function abnormally and then rapidly degenerate; L/M cones are more severely affected than S-cones. The lack of outer segments in mutant cones indicates a ciliary dysfunction. Genes expressed in mutant rod or both rod and cone photoreceptors show significant downregulation, while those expressed only in cones are unchanged. Many genes in cell-death and -survival pathways also are downregulated. The canine disease is a non-syndromic LCA-ciliopathy, with normal renal structures and no CNS abnormalities. Our results identify the critical time points in the pathogenesis of the photoreceptor disease, and bring us closer to defining a potential time window for testing novel therapies for translation to patients.

  8. SRY directly regulates the neurotrophin 3 promoter during male sex determination and testis development in rats.

    PubMed

    Clement, Tracy M; Bhandari, Ramji K; Sadler-Riggleman, Ingrid; Skinner, Michael K

    2011-08-01

    Neurotrophin 3 (Ntf3) is expressed in Sertoli cells and acts as a chemo-attractant for cell migration from the mesonephros into the developing testis, a process critical to the early morphological events of testis cord formation. The male sex-determining gene Sry initiates the process of testicular development. Sox9 is a key regulator of male sex determination and is directly regulated by SRY. Information on other downstream target genes of SRY is limited. The current study demonstrates an interaction of SRY with the Ntf3 promoter both in vitro and in vivo. The Ntf3 promoter in both rat and mouse contains at least one putative SRY binding site in the -0.6 kb promoter region. In a luciferase reporter assay system, both SRY and SOX9 stimulated the Ntf3 promoter in vitro through an interaction with this SRY-binding motif. In an immunoprecipitation-based pull-down assay, recombinant SRY protein bound the Ntf3 promoter fragment containing an intact SRY binding site, whereas the same protein did not interact with the fragment containing a mutated SRY motif. Specific antibodies against SRY were used in a chromatin immunoprecipitation (ChIP) assay of embryonic testis and were found to precipitate the Ntf3 promoter region. The SRY ChIP assay confirmed the direct interaction between SRY and the Ntf3 promoter in vivo during male sex determination. Observations suggest that SRY physically interacts with the Ntf3 promoter during male sex determination to coordinate cell migration in the testis to form testis cords.

  9. Neuronal Nitric Oxide Synthase and Calbindin Delineate Sex Differences in the Developing Hypothalamus and Preoptic Area

    PubMed Central

    Edelmann, Michelle; Wolfe, Cory; Scordalakes, Elka M.; Rissman, Emilie F.; Tobet, Stuart

    2011-01-01

    Throughout the hypothalamus there are several regions known to contain sex differences in specific cellular, neurochemical, or cell grouping characteristics. The current study examined the potential origin of sex differences in calbindin expression in the preoptic area and hypothalamus as related to sources of nitric oxide. Specific cell populations were defined by immunoreactive (ir) calbindin and neuronal nitric oxide synthase (nNOS) in the preoptic area/anterior hypothalamus (POA/AH), anteroventral periventricular nucleus (AVPv), and ventromedial nucleus of the hypothalamus (VMN). The POA/AH of adult mice was characterized by a striking sex difference in the distribution of cells with ir-calbindin. Examination of the POA/AH of androgen receptor deficient Tfm mice suggests that this pattern was in part androgen receptor dependent, since Tfm males had reduced ir-calbindin compared with wild-type males and more similar to wild-type females. At P0 ir-calbindin was more prevalent than in adulthood, with males having significantly more ir-calbindin and nNOS than have females. Cells that contained either ir-calbindin or ir-nNOS in the POA/AH were in adjacent cell groups, suggesting that NO derived from the enzymatic activity of nNOS may influence the development of ir-calbindin cells. In the region of AVPv, at P0, there was a sex difference with males having more ir-nNOS fibers than have females while ir-calbindin was not detected. In the VMN, at P0, ir-nNOS was greater in females than in males, with no significant difference in ir-calbindin. We suggest that NO as an effector molecule and calbindin as a molecular biomarker illuminate key aspects of sexual differentiation in the developing mouse brain. PMID:17638388

  10. Cerebellar cortex development in the weaver condition presents regional and age-dependent abnormalities without differences in Purkinje cells neurogenesis.

    PubMed

    Martí, Joaquín; Santa-Cruz, María C; Hervás, José P; Bayer, Shirley A; Villegas, Sandra

    2016-01-01

    Ataxias are neurological disorders associated with the degeneration of Purkinje cells (PCs). Homozygous weaver mice (wv/wv) have been proposed as a model for hereditary cerebellar ataxia because they present motor abnormalities and PC loss. To ascertain the physiopathology of the weaver condition, the development of the cerebellar cortex lobes was examined at postnatal day (P): P8, P20 and P90. Three approaches were used: 1) quantitative determination of several cerebellar features; 2) qualitative evaluation of the developmental changes occurring in the cortical lobes; and 3) autoradiographic analyses of PC generation and placement. Our results revealed a reduction in the size of the wv/wv cerebellum as a whole, confirming previous results. However, as distinguished from these reports, we observed that quantified parameters contribute differently to the abnormal growth of the wv/wv cerebellar lobes. Qualitative analysis showed anomalies in wv/wv cerebellar cytoarchitecture, depending on the age and lobe analyzed. Such abnormalities included the presence of the external granular layer after P20 and, at P90, ectopic cells located in the molecular layer following several placement patterns. Finally, we obtained autoradiographic evidence that wild-type and wv/wv PCs presented similar neurogenetic timetables, as reported. However, the innovative character of this current work lies in the fact that the neurogenetic gradients of wv/wv PCs were not modified from P8 to P90. A tendency for the accumulation of late-formed PCs in the anterior and posterior lobes was found, whereas early-generated PCs were concentrated in the central and inferior lobes. These data suggested that wv/wv PCs may migrate properly to their final destinations. The extrapolation of our results to patients affected with cerebellar ataxias suggests that all cerebellar cortex lobes are affected with several age-dependent alterations in cytoarchitectonics. We also propose that PC loss may be regionally

  11. Sex Equity Strategies (Second Edition). Research and Development Series No. 144.

    ERIC Educational Resources Information Center

    Vetter, Louise; And Others

    This document was designed to provide strategies and techniques for increasing sex fairness in vocational education to varied users (sex equity personnel, instructors, administrators, counselors, and curriculum planning personnel). The guide should aid vocational educators in overcoming sex bias and sex stereotyping by (1) creating awareness of…

  12. The Development of Sex Category Representation in Infancy: Matching of Faces and Bodies

    ERIC Educational Resources Information Center

    Hock, Alyson; Kangas, Ashley; Zieber, Nicole; Bhatt, Ramesh S.

    2015-01-01

    Sex is a significant social category, and adults derive information about it from both faces and bodies. Research indicates that young infants process sex category information in faces. However, no prior study has examined whether infants derive sex categories from bodies and match faces and bodies in terms of sex. In the current study,…

  13. Analysis of the Sonic Hedgehog signaling pathway in normal and abnormal bladder development.

    PubMed

    DeSouza, Kristin R; Saha, Monalee; Carpenter, Ashley R; Scott, Melissa; McHugh, Kirk M

    2013-01-01

    In this study, we examined the expression of Sonic Hedgehog, Patched, Gli1, Gli2, Gli3 and Myocardin in the developing bladders of male and female normal and megabladder (mgb-/-) mutant mice at embryonic days 12 through 16 by in situ hybridization. This analysis indicated that each member of the Sonic Hedgehog signaling pathway as well as Myocardin displayed distinct temporal and spatial patterns of expression during normal bladder development. In contrast, mgb-/- bladders showed both temporal and spatial changes in the expression of Patched, Gli1 and Gli3 as well as a complete lack of Myocardin expression. These changes occurred primarily in the outer mesenchyme of developing mgb-/- bladders consistent with the development of an amuscular bladder phenotype in these animals. These results provide the first comprehensive analysis of the Sonic Hedgehog signaling pathway during normal bladder development and provide strong evidence that this key signaling cascade is critical in establishing radial patterning in the developing bladder. In addition, the lack of detrusor smooth muscle development observed in mgb-/- mice is associated with bladder-specific temporospatial changes in Sonic Hedgehog signaling coupled with a lack of Myocardin expression that appears to result in altered patterning of the outer mesenchyme and poor initiation and differentiation of smooth muscle cells within this region of the developing bladder.

  14. Organizational and activational effects of sex steroids on kisspeptin neuron development

    PubMed Central

    Poling, Matthew C.; Kauffman, Alexander S.

    2012-01-01

    Kisspeptin, encoded by the Kiss1 gene, is a neuropeptide required for puberty and adult reproductive function. Understanding the regulation and development of the kisspeptin system provides valuable knowledge about the physiology of puberty and adult fertility, and may provide insights into human pubertal or reproductive disorders. Recent studies, particularly in rodent models, have assessed how kisspeptin neurons develop and how hormonal and non-hormonal factors regulate this developmental process. Exposure to sex steroids (testosterone and estradiol) during critical periods of development can induce organizational (permanent) effects on kisspeptin neuron development, with respect to both sexually dimorphic and non-sexually dimorphic aspects of kisspeptin biology. In addition, sex steroids can also impart activational (temporary) effects on kisspeptin neurons and Kiss1 gene expression at various times during neonatal and peripubertal development, as they do in adulthood. Here, we discuss the current knowledge—and in some cases, lack thereof—of the influence of hormones and other factors on kisspeptin neuronal development. PMID:22728025

  15. Abnormal Development of the Femoral Head Epiphysis in an Infant with no Developmental Dysplasia of the Hip Apparent on Ultrasonography

    PubMed Central

    Atalar, Hakan; Gunay, Cuneyd; Aytekin, Mahmut Nedim

    2014-01-01

    Introduction: In the investigation of hip development in newborns and infants, ultrasonography and radiography are widely used, but their optimal roles in this setting remain controversial. Case Report: Here we describe an 8.5-month-old infant who had undergone hip radiography at a primary care facility and was referred to our hospital to be evaluated for developmental dysplasia of the hip. Ultrasonography showed no developmental dysplasia of the hip according to standard criteria, but developmental retardation of the femoral head was apparent on the radiograph. Conclusion: This patient's findings demonstrate that abnormalities in femoral head epiphysis development can go undetected during routine ultrasonographic evaluations for developmental dysplasia of the hip. PMID:27298982

  16. The development of sex reassignment surgery in Thailand: a social perspective.

    PubMed

    Chokrungvaranont, Prayuth; Selvaggi, Gennaro; Jindarak, Sirachai; Angspatt, Apichai; Pungrasmi, Pornthep; Suwajo, Poonpismai; Tiewtranon, Preecha

    2014-01-01

    This paper reviews the development of gender reassignment in Thailand during the period of 1975-2012, in terms of social attitude, epidemiology, surgical patients' profile, law and regulation, religion, and patients' path from psychiatric assessment to surgery. Thailand healthcare for transsexual patients is described. Figures related to the number of sex reassignment surgeries performed in Thailand over the past 30 years are reported. Transsexual individuals are only apparently integrated within the Thail society: the law system of Thailand in fact, does not guarantee to transsexuals the same rights as in other Western countries; the governmental healthcare does not offer free treatments for transsexual patients. In favor of the transsexual healthcare, instead, the Medical Council of Thailand recently published a policy entitled "Criteria for the treatment of sex change, Census 2009." The goal of this policy was to improve the care of transsexual patients in Thailand, by implementing the Standards of Care of the World Professional Association of Transgender Health. Currently, in Thailand, there are 6 major private groups performing sex reassignment surgery, and mostly performing surgery to patients coming from abroad. Particularly, the largest of these (Preecha's group) has performed nearly 3000 vaginoplasties for male-to-female transsexuals in the last 30 years.

  17. Islamic bioethical deliberation on the issue of newborns with disorders of sex development.

    PubMed

    Mohamed, Mohd Salim; Noor, Siti Nurani Mohd

    2015-04-01

    This article presents the Islamic bioethical deliberation on the issue of sex assignment surgery (SAS) for infants with disorders of sex development (DSD) or intersexed as a case study. The main objective of this study is to present a different approach in assessing a biomedical issue within the medium of the Maqasid al-Shari'ah. Within the framework of the maqasidic scheme of benefits and harms, any practice where benefits are substantial is considered permissible, while those promoting harms are prohibited. The concept of Maqasid al-Shari'ah which is the mechanistic interpretation of Qur'an and Hadith presents the holistic attention of Islam on many life activities, including healthcare. Indeed, this concept encompasses many aspects of worldly life, both for the human individual and collectively for the whole society. In healthcare, the practice of SAS on DSD newborns has presented an assortment of implications on the future livelihood of the affected individual. The process of decision-making seems to be very multifaceted since every element such as the determination of the 'correct' sex and the urgency of early surgery must consider the benefits and harms, as well as the child's rights and best interest. The application of the concept of Maqasid al-Shari'ah, would convey a pragmatic approach that is often disregarded in Western medicine. This approach considers the right of the individual to live life optimally, individually and socially and practice his faith, precisely, in accordance with the assigned gender.

  18. Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

    PubMed Central

    Baxter, Ruth M.; Arboleda, Valerie A.; Lee, Hane; Barseghyan, Hayk; Adam, Margaret P.; Fechner, Patricia Y.; Bargman, Renee; Keegan, Catherine; Travers, Sharon; Schelley, Susan; Hudgins, Louanne; Mathew, Revi P.; Stalker, Heather J.; Zori, Roberto; Gordon, Ora K.; Ramos-Platt, Leigh; Pawlikowska-Haddal, Anna; Eskin, Ascia; Nelson, Stanley F.; Délot, Emmanuèle

    2015-01-01

    Context: Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of an individual. Such conditions can be stressful for patients and their families and have historically been difficult to diagnose, especially at the genetic level. In particular, for cases of 46,XY gonadal dysgenesis, once variants in SRY and NR5A1 have been ruled out, there are few other single gene tests available. Objective: We used exome sequencing followed by analysis with a list of all known human DSD-associated genes to investigate the underlying genetic etiology of 46,XY DSD patients who had not previously received a genetic diagnosis. Design: Samples were either submitted to the research laboratory or submitted as clinical samples to the UCLA Clinical Genomic Center. Sequencing data were filtered using a list of genes known to be involved in DSD. Results: We were able to identify a likely genetic diagnosis in more than a third of cases, including 22.5% with a pathogenic finding, an additional 12.5% with likely pathogenic findings, and 15% with variants of unknown clinical significance. Conclusions: Early identification of the genetic cause of a DSD will in many cases streamline and direct the clinical management of the patient, with more focused endocrine and imaging studies and better-informed surgical decisions. Exome sequencing proved an efficient method toward such a goal in 46,XY DSD patients. PMID:25383892

  19. Fetal testosterone and sex differences in typical social development and in autism.

    PubMed

    Knickmeyer, Rebecca Christine; Baron-Cohen, Simon

    2006-10-01

    Experiments in animals leave no doubt that androgens, including testosterone, produced by the testes in fetal and/or neonatal life act on the brain to induce sex differences in neural structure and function. In human beings, there is evidence supporting a female superiority in the ability to read nonverbal signals, specific language-related skills, and theory of mind. Even more striking than the sex differences seen in the typical population is the elevated occurrence of social and communicative difficulties in human males. One such condition, autism, occurs four times more frequently in boys than in girls. Recently, a novel theory known as the "extreme male brain" has been proposed. It suggests that the behaviors seen in autism are an exaggeration of typical sex differences and that exposure to high levels of prenatal testosterone might be a risk factor. In this article, we argue that prenatal and neonatal testosterone exposures are strong candidates for having a causal role in sexual dimorphism in human behavior, including social development, and as risk factors for conditions characterized by social impairments, particularly autism spectrum conditions.

  20. The Development of Sex Reassignment Surgery in Thailand: A Social Perspective

    PubMed Central

    Chokrungvaranont, Prayuth; Jindarak, Sirachai; Angspatt, Apichai; Pungrasmi, Pornthep; Suwajo, Poonpismai; Tiewtranon, Preecha

    2014-01-01

    This paper reviews the development of gender reassignment in Thailand during the period of 1975–2012, in terms of social attitude, epidemiology, surgical patients' profile, law and regulation, religion, and patients' path from psychiatric assessment to surgery. Thailand healthcare for transsexual patients is described. Figures related to the number of sex reassignment surgeries performed in Thailand over the past 30 years are reported. Transsexual individuals are only apparently integrated within the Thail society: the law system of Thailand in fact, does not guarantee to transsexuals the same rights as in other Western countries; the governmental healthcare does not offer free treatments for transsexual patients. In favor of the transsexual healthcare, instead, the Medical Council of Thailand recently published a policy entitled “Criteria for the treatment of sex change, Census 2009.” The goal of this policy was to improve the care of transsexual patients in Thailand, by implementing the Standards of Care of the World Professional Association of Transgender Health. Currently, in Thailand, there are 6 major private groups performing sex reassignment surgery, and mostly performing surgery to patients coming from abroad. Particularly, the largest of these (Preecha's group) has performed nearly 3000 vaginoplasties for male-to-female transsexuals in the last 30 years. PMID:24772010

  1. Development and application of a mark-recapture model incorporating predicted sex and transitory behaviour

    USGS Publications Warehouse

    Conroy, M.J.; Senar, J.C.; Hines, J.E.; Domenech, J.

    1999-01-01

    We developed an extension of Cormack-Jolly-Seber models to handle a complex mark-recapture problem in which (a) the sex of birds cannot be determined prior to first moult, but can be predicted on the basis of body measurements, and (b) a significant portion of captured birds appear to be transients (i.e. are captured once but leave the area or otherwise become ' untrappable'). We applied this methodology to a data set of 4184 serins (Serinus serinus) trapped in northeastern Spain during 1985-96, in order to investigate age-, sex-, and time-specific variation in survival rates. Using this approach, we were able to successfully incorporate the majority of ringings of serins. Had we eliminated birds not previously captured (as has been advocated to avoid the problem of transience) we would have reduced our sample sizes by >2000 releases. In addition, we were able to include 1610 releases of birds of unknown (but predicted) sex; these data contributed to the precision of our estimates and the power of statistical tests. We discuss problems with data structure, encoding of the algorithms to compute parameter estimates, model selection, identifiability of parameters, and goodness-of-fit, and make recommendations for the design and analysis of future studies facing similar problems.

  2. Development and application of a mark-recapture model incorporating predicted sex and transitory behaviour

    USGS Publications Warehouse

    Conroy, M.J.; Senar, J.C.; Hines, J.E.; Domenech, J.

    1999-01-01

    We developed an extension of Cormack-Jolly-Seber models to handle a complex mark-recapture problem in which (a) the sex of birds cannot be determined prior to first moult, but can be predicted on the basis of body measurements, and (b) a significant portion of captured birds appear to be transients (i.e. are captured once but leave the area or otherwise become 'untrappable'). We applied this methodology to a data set of 4184 serins (Serinus serinus) trapped in northeastern Spain during 1985-96, in order to investigate age-, sex-, and time-specific variation in survival rates. Using this approach, we were able to successfully incorporate the majority of ringings of serins. Had we eliminated birds not previously captured (as has been advocated to avoid the problem of transience) we would have reduced our sample sizes by >2000 releases. In addition, we were able to include 1610 releases of birds of unknown (but predicted) sex; these data contributed to the precision of our estimates and the power of statistical tests. We discuss problems with data structure, encoding of the algorithms to compute parameter estimates, model selection, identifiability of parameters, and goodness-of-fit, and make recommendations for the design and analysis of future studies facing similar problems.

  3. White-matter tract abnormalities and antisocial behavior: A systematic review of diffusion tensor imaging studies across development.

    PubMed

    Waller, Rebecca; Dotterer, Hailey L; Murray, Laura; Maxwell, Andrea M; Hyde, Luke W

    2017-01-01

    Antisocial behavior (AB), including aggression, violence, and theft, is thought be underpinned by abnormal functioning in networks of the brain critical to emotion processing, behavioral control, and reward-related learning. To better understand the abnormal functioning of these networks, research has begun to investigate the structural connections between brain regions implicated in AB using diffusion tensor imaging (DTI), which assesses white-matter tract microstructure. This systematic review integrates findings from 22 studies that examined the relationship between white-matter microstructure and AB across development. In contrast to a prior hypothesis that AB is associated with greater diffusivity specifically in the uncinate fasciculus, findings suggest that adult AB is associated with greater diffusivity across a range of white-matter tracts, including the uncinate fasciculus, inferior fronto-occipital fasciculus, cingulum, corticospinal tract, thalamic radiations, and corpus callosum. The pattern of findings among youth studies was inconclusive with both higher and lower diffusivity found across association, commissural, and projection and thalamic tracts.

  4. Structural abnormalities develop in the brain after ablation of the gene encoding nonmuscle myosin II-B heavy chain.

    PubMed

    Tullio, A N; Bridgman, P C; Tresser, N J; Chan, C C; Conti, M A; Adelstein, R S; Hara, Y

    2001-04-23

    Ablation of nonmuscle myosin heavy chain II-B (NMHC-B) in mice results in severe hydrocephalus with enlargement of the lateral and third ventricles. All B(-)/B(-) mice died either during embryonic development or on the day of birth (PO). Neurons cultured from superior cervical ganglia of B(-)/B(-) mice between embryonic day (E) 18 and P0 showed decreased rates of neurite outgrowth, and their growth cones had a distinctive narrow morphology compared with those from normal mice. Serial sections of E12.5, E13.5, and E15 mouse brains identified developmental defects in the ventricular neuroepithelium. On E12.5, disruption of the coherent ventricular surface and disordered cell migration of neuroepithelial and differentiated cells were seen at various points in the ventricular walls. These abnormalities resulted in the formation of rosettes in various regions of the brain and spinal cord. On E13.5 and E15, disruption of the ventricular surface and aberrant protrusions of neural cells into the ventricles became more prominent. By E18.5 and P0, the defects in cells lining the ventricular wall resulted in an obstructive hydrocephalus due to stenosis or occlusion of the third ventricle and cerebral aqueduct. These defects may be caused by abnormalities in the cell adhesive properties of neuroepithelial cells and suggest that NMHC-B is essential for both early and late developmental processes in the mammalian brain.

  5. Sex differences in T-lymphocyte tissue infiltration and development of angiotensin II hypertension.

    PubMed

    Pollow, Dennis P; Uhrlaub, Jennifer; Romero-Aleshire, Melissa J; Sandberg, Kathryn; Nikolich-Zugich, Janko; Brooks, Heddwen L; Hay, Meredith

    2014-08-01

    There is extensive evidence that activation of the immune system is both necessary and required for the development of angiotensin II (Ang II)-induced hypertension in males. The purpose of this study was to determine whether sex differences exist in the ability of the adaptive immune system to induce Ang II-dependent hypertension and whether central and renal T-cell infiltration during Ang II-induced hypertension is sex dependent. Recombinant activating gene-1 (Rag-1)(-/-) mice, lacking both T and B cells, were used. Male and female Rag-1(-/-) mice received adoptive transfer of male CD3(+) T cells 3 weeks before 14-day Ang II infusion (490 ng/kg per minute). Blood pressure was monitored via tail cuff. In the absence of T cells, systolic blood pressure responses to Ang II were similar between sexes (Δ22.1 mm Hg males versus Δ18 mm : Hg females). After adoptive transfer of male T cells, Ang II significantly increased systolic blood pressure in males (Δ37.7 mm : Hg; P<0.05) when compared with females (Δ13.7 mm : Hg). Flow cytometric analysis of total T cells and CD4(+), CD8(+), and regulatory Foxp3(+)-CD4(+) T-cell subsets identified that renal lymphocyte infiltration was significantly increased in males versus females in both control and Ang II-infused animals (P<0.05). Immunohistochemical staining for CD3(+)-positive T cells in the subfornical organ region of the brain was increased in males when compared with that in females. These results suggest that female Rag-1(-/-) mice are protected from male T-cell-mediated increases in Ang II-induced hypertension when compared with their male counterparts, and this protection may involve sex differences in the magnitude of T-cell infiltration of the kidney and brain.

  6. Chromosome abnormalities in human arrested preimplantation embryos: A multiple-probe FISH study

    SciTech Connect

    Munne, S.; Grifo, J.; Cohen, J. ); Weier, H.U.G. )

    1994-07-01

    Numerical chromosome abnormalities were studied in single blastomeres from arrested or otherwise morphologically abnormal human preimplantation embryos. A 6-h FISH procedure with fluorochrome-labeled DNA probes was developed to determine numerical abnormalities of chromosomes X, Y, and 18. The three chromosomes were stained and detected simultaneously in 571 blastomeres from 131 embryos. Successful analysis including biopsy, fixation, and FISH analysis was achieved in 86.5% of all blastomeres. The procedure described here offers a reliable alternative to sexing of embryos by PCR and allows simultaneous ploidy assessment. For the three chromosomes tested, numerical aberrations were found in 56.5% of the embroys. Most abnormal embryos were polyploid or mosaics, and 6.1% were aneuploid for gonosomes or chromosome 18. Extrapolation of these results to all human chromosomes suggests that the majority of abnormally developing and arrested human embryos carry numerical chromosome abnormalities. 44 refs., 1 fig., 4 tabs.

  7. Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development.

    PubMed

    Polanco, Juan Carlos; Wilhelm, Dagmar; Davidson, Tara-Lynne; Knight, Deon; Koopman, Peter

    2010-02-01

    Male development in mammals is normally initiated by the Y-linked gene Sry, which activates expression of Sox9, leading to a cascade of gene activity required for testis formation. Although defects in this genetic cascade lead to human disorders of sex development (DSD), only a dozen DSD genes have been identified, and causes of 46,XX DSD (XX maleness) other than SRY translocation are almost completely unknown. Here, we show that transgenic expression of Sox10, a close relative of Sox9, in gonads of XX mice resulted in development of testes and male physiology. The degree of sex reversal correlated with levels of Sox10 expression in different transgenic lines. Sox10 was expressed at low levels in primordial gonads of both sexes during normal mouse development, becoming male-specific during testis differentiation. SOX10 protein was able to activate transcriptional targets of SOX9, explaining at a mechanistic level its ability to direct male development. Because over-expression of SOX10 alone is able to mimic the XX DSD phenotypes associated with duplication of human chromosome 22q13, and given that human SOX10 maps to 22q13.1, our results functionally implicate SOX10 in the etiology of these DSDs.

  8. Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alterations in CNS Development

    DTIC Science & Technology

    2011-10-01

    involved in autism pathogenesis also occur in many children that do not develop ASD. This suggests there is an underlying vulnerability phenotype that...involved in autism pathogenesis occur in many more children than those that develop ASD. This suggests that there is an underlying vulnerability phenotype...hypothesis to explain the observations that the multiple environmental insults that have been suggested to be involved in autism pathogenesis occur in

  9. Abnormal pressures as hydrodynamic phenomena

    USGS Publications Warehouse

    Neuzil, C.E.

    1995-01-01

    So-called abnormal pressures, subsurface fluid pressures significantly higher or lower than hydrostatic, have excited speculation about their origin since subsurface exploration first encountered them. Two distinct conceptual models for abnormal pressures have gained currency among earth scientists. The static model sees abnormal pressures generally as relict features preserved by a virtual absence of fluid flow over geologic time. The hydrodynamic model instead envisions abnormal pressures as phenomena in which flow usually plays an important role. This paper develops the theoretical framework for abnormal pressures as hydrodynamic phenomena, shows that it explains the manifold occurrences of abnormal pressures, and examines the implications of this approach. -from Author

  10. Leukocyte abnormalities.

    PubMed

    Gabig, T G

    1980-07-01

    Certain qualitative abnormalities in neutrophils and blood monocytes are associated with frequent, severe, and recurrent bacterial infections leading to fatal sepsis, while other qualitative defects demonstrated in vitro may have few or no clinical sequelae. These qualitative defects are discussed in terms of the specific functions of locomotion, phagocytosis, degranulation, and bacterial killing.

  11. Embryonic exposure to thimerosal, an organomercury compound, causes abnormal early development of serotonergic neurons.

    PubMed

    Ida-Eto, Michiru; Oyabu, Akiko; Ohkawara, Takeshi; Tashiro, Yasura; Narita, Naoko; Narita, Masaaki

    2011-11-14

    Even though neuronal toxicity due to organomercury compounds is well known, thimerosal, an organomercury compound, is widely used in pediatric vaccine preservation. In the present study, we examined whether embryonic exposure to thimerosal affects early development of serotonergic neurons. Thimerosal (1mg Hg/kg) was intramuscularly administered to pregnant rats on gestational day 9 (susceptible time window for development of fetal serotonergic system), and fetal serotonergic neurons were assessed at embryonic day 15 using anti-serotonin antibodies. A dramatic increase in the number of serotonergic neurons localized to the lateral portion of the caudal raphe was observed in thimerosal group (1.9-fold increase, p<0.01 compared to control). These results indicate that embryonic exposure to thimerosal affects early development of serotonergic neurons.

  12. Development of two highly sensitive forensic sex determination assays based on human DYZ1 and Alu repetitive DNA elements.

    PubMed

    Fazi, Amanda; Gobeski, Brianne; Foran, David

    2014-11-01

    Sex determination is a critical component of forensic identification, the standard genetic method for which is detection of the single copy amelogenin gene that has differing homologues on the X and Y chromosomes. However, this assay may not be sensitive enough when DNA samples are minute or highly compromised, thus other strategies for sex determination are needed. In the current research, two ultrasensitive sexing assays, based on real-time PCR and pyrosequencing, were developed targeting the highly repetitive elements DYZ1 on the Y chromosome and Alu on the autosomes. The DYZ1/Alu strategy was compared to amelogenin for overall sensitivity based on high molecular weight and degraded DNA, followed by assaying the sex of 34 touch DNA samples and DNA from 30 hair shafts. The real-time DYZ1/Alu assay proved to be approximately 1500 times more sensitive than its amelogenin counterpart based on high molecular weight DNA, and even more sensitive when sexing degraded DNA. The pyrosequencing DYZ1/Alu assay correctly sexed 26 of the touch DNAs, compared to six using amelogenin. Hair shaft DNAs showed equally improved sexing results using the DYZ1/Alu assays. Overall, both DYZ1/Alu assays were far more sensitive and accurate than was the amelogenin assay, and thus show great utility for sexing poor quality and low quantity DNA evidence.

  13. Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study

    PubMed Central

    Gazdagh, Gabriella; Tobias, Edward S.; Ahmed, S. Faisal; McGowan, Ruth

    2016-01-01

    A range of phenotypes that are associated with disorders of sex development (DSD) may also be encountered in patients with neurodevelopmental delay. In this study we have undertaken a collaborative retrospective review of anonymised phenotypic and genotypic data from the UK-wide Deciphering Developmental Disorders (DDD) study. Our objectives were to determine the frequency and range of DSD phenotypes observed in participants in the DDD study and to identify novel genetic associations. We found that of 7,439 DDD participants, 603 (8%) had at least one genital abnormality. In addition, we found that DSD occurs in 5% of patients with learning difficulties. Causative mutations were found in 13 developmental genes, of which, crucially, 6 had no previous reported association with DSD. Our findings indicate that recognition of these associations should not be overlooked in the management of patients with complex conditions and that exomic sequencing through projects like DDD increases diagnostic yield. PMID:27598577

  14. 46,XY Disorders of Sex Development and Congenital Diaphragmatic Hernia: A Case with Dysmorphic Facies, Truncus Arteriosus, Bifid Thymus, Gut Malrotation, Rhizomelia, and Adactyly

    PubMed Central

    Esplin, Edward D.; Chaib, Hassan; Haney, Michael; Martin, Brock; Homeyer, Margaret; Urban, Alexander E.; Bernstein, Jonathan A.

    2016-01-01

    The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases. PMID:25898814

  15. Auditory Processing in Infancy: Do Early Abnormalities Predict Disorders of Language and Cognitive Development?

    ERIC Educational Resources Information Center

    Guzzetta, Francesco; Conti, Guido; Mercuri, Eugenio

    2011-01-01

    Increasing attention has been devoted to the maturation of sensory processing in the first year of life. While the development of cortical visual function has been thoroughly studied, much less information is available on auditory processing and its early disorders. The aim of this paper is to provide an overview of the assessment techniques for…

  16. Development of a theory-guided pan-European computer-assisted safer sex intervention.

    PubMed

    Nöstlinger, Christiana; Borms, Ruth; Dec-Pietrowska, Joanna; Dias, Sonia; Rojas, Daniela; Platteau, Tom; Vanden Berghe, Wim; Kok, Gerjo

    2016-12-01

    HIV is a growing public health problem in Europe, with men-having-sex-with-men and migrants from endemic regions as the most affected key populations. More evidence on effective behavioral interventions to reduce sexual risk is needed. This article describes the systematic development of a theory-guided computer-assisted safer sex intervention, aiming at supporting people living with HIV in sexual risk reduction. We applied the Intervention Mapping (IM) protocol to develop this counseling intervention in the framework of a European multicenter study. We conducted a needs assessment guided by the information-motivation-behavioral (IMB) skills model, formulated change objectives and selected theory-based methods and practical strategies, i.e. interactive computer-assisted modules as supporting tools for provider-delivered counseling. Theoretical foundations were the IMB skills model, social cognitive theory and the transtheoretical model, complemented by dual process models of affective decision making to account for the specifics of sexual behavior. The counseling approach for delivering three individual sessions was tailored to participants' needs and contexts, adopting elements of motivational interviewing and cognitive-behavioral therapy. We implemented and evaluated the intervention using a randomized controlled trial combined with a process evaluation. IM provided a useful framework for developing a coherent intervention for heterogeneous target groups, which was feasible and effective across the culturally diverse settings. This article responds to the need for transparent descriptions of the development and content of evidence-based behavior change interventions as potential pillars of effective combination prevention strategies.

  17. Avian egg odour encodes information on embryo sex, fertility and development.

    PubMed

    Webster, Ben; Hayes, William; Pike, Thomas W

    2015-01-01

    Avian chemical communication is a rapidly emerging field, but has been hampered by a critical lack of information on volatile chemicals that communicate ecologically relevant information (semiochemicals). A possible, but as yet unexplored, function of olfaction and chemical communication in birds is in parent-embryo and embryo-embryo communication. Communication between parents and developing embryos may act to mediate parental behaviour, while communication between embryos can control the synchronicity of hatching. Embryonic vocalisations and vibrations have been implicated as a means of communication during the later stages of development but in the early stages, before embryos are capable of independent movement and vocalisation, this is not possible. Here we show that volatiles emitted from developing eggs of Japanese quail (Coturnix japonica) convey information on egg fertility, along with the sex and developmental status of the embryo. Specifically, egg volatiles changed over the course of incubation, differed between fertile and infertile eggs, and were predictive of embryo sex as early as day 1 of incubation. Egg odours therefore have the potential to facilitate parent-embryo and embryo-embryo interactions by allowing the assessment of key measures of embryonic development long before this is possible through other modalities. It also opens up the intriguing possibility that parents may be able to glean further relevant information from egg volatiles, such as the health, viability and heritage of embryos. By determining information conveyed by egg-derived volatiles, we hope to stimulate further investigation into the ecological role of egg odours.

  18. Involvement of ethylene in sex expression and female flower development in watermelon (Citrullus lanatus).

    PubMed

    Manzano, Susana; Martínez, Cecilia; García, Juan Manuel; Megías, Zoraida; Jamilena, Manuel

    2014-12-01

    Although it is known that ethylene has a masculinizing effect on watermelon, the specific role of this hormone in sex expression and flower development has not been analyzed in depth. By using different approaches the present work demonstrates that ethylene regulates differentially two sex-related developmental processes: sexual expression, i.e. the earliness and the number of female flowers per plant, and the development of individual floral buds. Ethylene production in the shoot apex as well as in male, female and bisexual flowers demonstrated that the female flower requires much more ethylene than the male one to develop, and that bisexual flowers result from a decrease in ethylene production in the female floral bud. The occurrence of bisexual flowers was found to be associated with elevated temperatures in the greenhouse, concomitantly with a reduction of ethylene production in the shoot apex. External treatments with ethephon and AVG, and the use of Cucurbita rootstocks with different ethylene production and sensitivity, confirmed that, as occurs in other cucurbit species, ethylene is required to arrest the development of stamens in the female flower. Nevertheless, in watermelon ethylene inhibits the transition from male to female flowering and reduces the number of pistillate flowers per plant, which runs contrary to findings in other cucurbit species. The use of Cucurbita rootstocks with elevated ethylene production delayed the production of female flowers but reduced the number of bisexual flowers, which is associated with a reduced fruit set and altered fruit shape.

  19. The Development of Sex Category Representation in Infancy: Matching of Faces and Bodies

    PubMed Central

    Hock, Alyson; Kangas, Ashley; Zieber, Nicole; Bhatt, Ramesh S.

    2016-01-01

    Sex is a significant social category, and adults derive information about it from both faces and bodies. Research indicates that young infants process sex category information in faces. However, no prior study has examined whether infants derive sex categories from bodies and match faces and bodies in terms of sex. In the current study, 5-month-olds exhibited a preference between sex congruent (face and body of the same sex) versus sex-incongruent (face and body belonging to different genders) images. In contrast, 3.5-month-olds failed to exhibit a preference. Thus, 5-month-olds process sex information from bodies and match it to facial information. However, younger infants’ failure to match suggests that there is a developmental change between 3.5 and 5 months of age in the processing of sex categories. These results indicate that rapid developmental changes lead to fairly sophisticated social information processing quite early in life. PMID:25621754

  20. Overexpression of the CmACS-3 gene in melon causes abnormal pollen development.

    PubMed

    Zhang, H; Luan, F

    2015-09-08

    Sexual diversity expressed by the Curcurbitaceae family is a primary example of developmental plasticity in plants. Most melon genotypes are andromonoecious, where an initial phase of male flowers is followed by a mixture of bisexual and male flowers. Over-expression of the CmACS-3 gene in melon plants showed an increased number of flower buds, and increased femaleness as demonstrated by a larger number bisexual buds. Transformation of CmACS-3 in melons showed earlier development of and an increased number of bisexual buds that matured to anthesis but also increased the rate of development of the bisexual buds to maturity. Field studies showed that CmACS-3-overexpressing melons had earlier mature bisexual flowers, earlier fruit set, and an increased number of fruits set on closely spaced nodes on the main stem.

  1. The sequential development of abnormal prion protein accumulation in mice with Creutzfeldt-Jakob disease.

    PubMed Central

    Muramoto, T.; Kitamoto, T.; Tateishi, J.; Goto, I.

    1992-01-01

    The distribution and sequential development of prion protein (PrP) accumulation in the central nervous system (CNS) and non-neuronal organs of mice infected with Creutzfeldt-Jakob disease (CJD) were investigated immunohistochemically using a new pretreatment method that greatly enhanced the immunoreactivity of PrP. Prion protein accumulation in the CNS was first detected at 30 days after inoculation and then developed near the inoculation site or periventricular area, and later spread to the whole cerebrum and then to the pons. Its staining took some characteristic forms. Among non-neuronal organs, PrP accumulated in the follicular dendritic cells (FDCs) in spleen, lymph node, Peyer's patch, and thymus. FDCs staining appeared in spleen, lymph node, and Peyer's patch at 21 or 30 days after inoculation, and in thymus at 90 days. Germinal centers developed in the thymus of some CJD-infected mice. No PrP staining was detected in any examined organs of age-matched control mice. Images Figure 1 Figure 2 Figure 3 Figure 4 PMID:1376559

  2. Hippocampal neuronal subtypes develop abnormal dendritic arbors in the presence of Fragile X astrocytes.

    PubMed

    Jacobs, S; Cheng, C; Doering, L C

    2016-06-02

    Astrocytes are now recognized as key players in the neurobiology of neurodevelopmental disorders such as Fragile X syndrome. However, the nature of Fragile X astrocyte-mediated control of dendrite development in subtypes of hippocampal neurons is not yet known. We used a co-culture procedure in which wildtype primary hippocampal neurons were cultured with astrocytes from either a wildtype or Fragile X mouse, for either 7, 14 or 21 days. The neurons were processed for immunocytochemistry with the dendritic marker MAP2, classified by morphological criteria into one of five neuronal subtypes, and subjected to Sholl analyses. Both linear and semi-log methods of Sholl analyses were applied to the neurons in order to provide an in depth analysis of the dendritic arborizations. We found that Fragile X astrocytes affect the development of dendritic arborization of all subtypes of wildtype hippocampal neurons. Furthermore, we show that hippocampal neurons with spiny stellate neuron morphology exhibit the most pervasive developmental delays, with significant dendritic arbor alterations persisting at 21 days in culture. The results further dictate the critical role astrocytes play in governing neuronal morphology including altered dendrite development in Fragile X.

  3. Anal Canal Carcinoma in a Child With Disorders of Sex Development.

    PubMed

    Watanabe, Toshihiko; Horikawa, Reiko; Masaki, Hidekazu; Yoshioka, Takako; Matsumoto, Kimikazu; Kanamori, Yutaka

    2016-07-01

    Squamous cell carcinoma of the anal canal in children is rare. To date, the etiology and outcome of this condition have been not fully understood. Here, we report an 11-year-old child with anal canal cancer who had concomitant disorders of sex development. Radiotherapy followed by salvage surgery achieved disease-free survival of 3 years. Since overexpression of cell cycle regulatory protein p16 was immunohistochemically evident in tumor tissue, human papillomavirus infection was considered as a causative factor in the carcinogenesis.

  4. Human 14-3-3 gamma protein results in abnormal cell proliferation in the developing eye of Drosophila melanogaster

    PubMed Central

    Hong, Sophia W; Qi, Wenqing; Brabant, Marc; Bosco, Giovanni; Martinez, Jesse D

    2008-01-01

    Background 14-3-3 proteins are a family of adaptor proteins that participate in a wide variety of cellular processes. Recent evidence indicates that the expression levels of these proteins are elevated in some human tumors providing circumstantial evidence for their involvement in human cancers. However, the mechanism through which these proteins act in tumorigenesis is uncertain. Results To determine whether elevated levels of 14-3-3 proteins may perturb cell growth we overexpressed human 14-3-3 gamma (h14-3-3 gamma) in Drosophila larvae using the heat shock promoter or the GMR-Gal4 driver and then examined the effect that this had on cell proliferation in the eye imaginal discs of third instar larvae. We found that induction of h14-3-3 gamma resulted in the abnormal appearance of replicating cells in the differentiating proneural photoreceptor cells of eye imaginal discs where h14-3-3 gamma was driven by the heat shock promoter. Similarly, we found that driving h14-3-3 gamma expression specifically in developing eye discs with the GMR-Gal4 driver resulted in increased numbers of replicative cells following the morphogenetic furrow. Interestingly, we found that the effects of overexpressing h1433 gamma on eye development were increased in a genetic background where String (cdc25) function was compromised. Conclusion Taken together our results indicate that h14-3-3 gamma can promote abnormal cell proliferation and may act through Cdc25. This has important implications for 14-3-3 gamma as an oncogene as it suggests that elevated levels of 14-3-3 may confer a growth advantage to cells that overexpress it. PMID:18194556

  5. Anesthesia for Children With Craniofacial Abnormalities in the Developing Countries: Challenges and Future Directions.

    PubMed

    Melookaran, Ann M; Rao, Sirisha A; Antony, Sible B; Herrera, Adriana

    2015-06-01

    Interest in global health to provide safer pediatric surgical care in developing countries has increased during the last decade. A collaborative effort between surgeons and anesthesiologists has provided the opportunity to deliver specialized care to children, particularly in the areas of cleft lip and palate repair. However, medical resources, facilities, and adequately trained personnel, especially in pediatric anesthesia, are often limited in these countries. Challenges, educational efforts, and future directions for the globalization of anesthesia are discussed. Involvement of international entities may help raise awareness, channel efforts, expand programs and encourage volunteerism to ultimately provide safer care to pediatric patients, have better outcomes and reduced anesthesia-related morbidity and mortality.

  6. Annual Research Review: Growth connectomics – the organization and reorganization of brain networks during normal and abnormal development

    PubMed Central

    Vértes, Petra E; Bullmore, Edward T

    2015-01-01

    Background We first give a brief introduction to graph theoretical analysis and its application to the study of brain network topology or connectomics. Within this framework, we review the existing empirical data on developmental changes in brain network organization across a range of experimental modalities (including structural and functional MRI, diffusion tensor imaging, magnetoencephalography and electroencephalography in humans). Synthesis We discuss preliminary evidence and current hypotheses for how the emergence of network properties correlates with concomitant cognitive and behavioural changes associated with development. We highlight some of the technical and conceptual challenges to be addressed by future developments in this rapidly moving field. Given the parallels previously discovered between neural systems across species and over a range of spatial scales, we also review some recent advances in developmental network studies at the cellular scale. We highlight the opportunities presented by such studies and how they may complement neuroimaging in advancing our understanding of brain development. Finally, we note that many brain and mind disorders are thought to be neurodevelopmental in origin and that charting the trajectory of brain network changes associated with healthy development also sets the stage for understanding abnormal network development. Conclusions We therefore briefly review the clinical relevance of network metrics as potential diagnostic markers and some recent efforts in computational modelling of brain networks which might contribute to a more mechanistic understanding of neurodevelopmental disorders in future. PMID:25441756

  7. A mitochondrial DNA sequence is associated with abnormal pollen development in cytoplasmic male sterile bean plants.

    PubMed Central

    Johns, C; Lu, M; Lyznik, A; Mackenzie, S

    1992-01-01

    Cytoplasmic male sterility (CMS) in common bean is associated with the presence of a 3-kb unique mitochondrial sequence designated pvs. The pvs sequence encodes at least two open reading frames (297 and 720 bp in length) with portions derived from the chloroplast genome. Fertility restoration by the nuclear restorer gene Fr results in the loss of this transcriptionally active unique region. We examined the effect of CMS (pvs present) and fertility restoration by Fr (pvs absent) on the pattern of pollen development in bean. In the CMS line, pollen aborted in the tetrad stage late in microgametogenesis. Microspores maintained cytoplasmic connections throughout pollen development, indicating aberrant or incomplete cytokinesis. Pollen-specific events associated with pollen abortion and fertility restoration imply that a gametophytic factor or event may be involved in CMS. In situ hybridization experiments suggested that significant reduction or complete loss of the mitochondrial sterility-associated sequence occurred in fertile pollen of F2 populations segregating for fertility. These observations support a model of fertility restoration by the loss of a mitochondrial DNA sequence prior to or during microsporogenesis/gametogenesis. PMID:1498602

  8. Genital surgery for disorders of sex development: implementing a shared decision-making approach.

    PubMed

    Karkazis, Katrina; Tamar-Mattis, Anne; Kon, Alexander A

    2010-08-01

    Ongoing controversy surrounds early genital surgery for children with disorders of sex development, making decisions about these procedures extraordinarily complex. Professional organizations have encouraged healthcare providers to adopt shared decision-making due to its broad potential to improve the decision-making process, perhaps most so when data are lacking, when there is no clear "best-choice" treatment, when decisions involve more than one choice, where each choice has both advantages and disadvantages, and where the ranking of options depends heavily on the decision-maker's values. We present a 6-step model for shared decision-making in decisions about genital surgery for disorders of sex development: (1) Set the stage and develop an appropriate team; (2) Establish preferences for information and roles in decision-making; (3) Perceive and address emotions; (4) Define concerns and values; (5) Identify options and present evidence; and (6) Share responsibility for making a decision. As long as controversy persists regarding surgery for DSD, an SDM process can facilitate the increased sharing of relevant information essential for making important health care decisions.

  9. Genome-wide identification of CBX2 targets: insights in the human sex development network.

    PubMed

    Eid, Wassim; Opitz, Lennart; Biason-Lauber, Anna

    2015-02-01

    Chromobox homolog 2 (CBX2) is a chromatin modifier that plays an important role in sexual development and its disorders (disorders of sex development [DSD]), yet the exact rank and function of human CBX2 in this pathway remains unclear. Here, we performed large-scale mapping and analysis of in vivo target loci of the protein CBX2 in Sertoli-like NT-2D1 cells, using the DNA adenine methyltransferase identification technique. We identified close to 1600 direct targets for CBX2. Intriguingly, validation of selected candidate genes using qRT-PCR in cells overexpressing CBX2 or in which CBX2 has been knocked down indicated that several CBX2-responsive genes encode proteins that are involved in DSD. We further validated these effects on the candidate genes using a mutated CBX2 causing DSD in human patient. Overall, our findings suggest that CBX2 role in the sex development cascade is to stimulate the male pathway and concurrently inhibit the female pathway. These data provide fundamental insights into potential etiology of DSD.

  10. Boys and girls on the playground: sex differences in social development are not stable across early childhood.

    PubMed

    Barbu, Stéphanie; Cabanes, Guénaël; Le Maner-Idrissi, Gaïd

    2011-01-28

    Sex differences in human social behaviors and abilities have long been a question of public and scientific interest. Females are usually assumed to be more socially oriented and skillful than males. However, despite an extensive literature, the very existence of sex differences remains a matter of discussion while some studies found no sex differences whereas others reported differences that were either congruent or not with gender stereotypes. Moreover, the magnitude, consistency and stability across time of the differences remain an open question, especially during childhood. As play provides an excellent window into children's social development, we investigated whether and how sex differences change in social play across early childhood. Following a cross-sectional design, 164 children aged from 2 to 6 years old, divided into four age groups, were observed during outdoor free play at nursery school. We showed that sex differences are not stable over time evidencing a developmental gap between girls and boys. Social and structured forms of play emerge systematically earlier in girls than in boys leading to subsequent sex differences in favor of girls at some ages, successively in associative play at 3-4 years, cooperative play at 4-5 years, and social interactions with peers at 5-6 years. Preschool boys also display more solitary play than preschool girls, especially when young. Nevertheless, while boys catch up and girls move on towards more complex play, sex differences in social play patterns are reversed in favor of boys at the following ages, such as in associative play at 4-5 years and cooperative play at 5-6 years. This developmental perspective contributes to resolve apparent discrepancies between single-snapshot studies. A better understanding of the dynamics of sex differences in typical social development should also provide insights into atypical social developments which exhibit sex differences in prevalence, such as autism.

  11. Sexually dimorphic white matter geometry abnormalities in adolescent onset schizophrenia.

    PubMed

    Savadjiev, P; Whitford, T J; Hough, M E; Clemm von Hohenberg, C; Bouix, S; Westin, C-F; Shenton, M E; Crow, T J; James, A C; Kubicki, M

    2014-05-01

    The normal human brain is characterized by a pattern of gross anatomical asymmetry. This pattern, known as the "torque", is associated with a sexual dimorphism: The male brain tends to be more asymmetric than that of the female. This fact, along with well-known sex differences in brain development (faster in females) and onset of psychosis (earlier with worse outcome in males), has led to the theory that schizophrenia is a disorder in which sex-dependent abnormalities in the development of brain torque, the correlate of the capacity for language, cause alterations in interhemispheric connectivity, which are causally related to psychosis (Crow TJ, Paez P, Chance SE. 2007. Callosal misconnectivity and the sex difference in psychosis. Int Rev Psychiatry. 19(4):449-457.). To provide evidence toward this theory, we analyze the geometry of interhemispheric white matter connections in adolescent-onset schizophrenia, with a particular focus on sex, using a recently introduced framework for white matter geometry computation in diffusion tensor imaging data (Savadjiev P, Kindlmann GL, Bouix S, Shenton ME, Westin CF. 2010. Local white geometry from diffusion tensor gradients. Neuroimage. 49(4):3175-3186.). Our results reveal a pattern of sex-dependent white matter geometry abnormalities that conform to the predictions of Crow's torque theory and correlate with the severity of patients' symptoms. To the best of our knowledge, this is the first study to associate geometrical differences in white matter connectivity with torque in schizophrenia.

  12. Abnormal in vitro development of ovarian follicles explanted from mice exposed to tetrachlorvinphos.

    PubMed

    Nayudu, P L; Kiesel, P S; Nowshari, M A; Hodges, J K

    1994-01-01

    A system of mouse ovarian follicle culture in which follicles can be grown from a preantral stage of development through antral formation has been developed and modified recently by Nayudu and colleagues. Follicles have been shown to grow in this culture system at a relatively constant rate and show responsiveness to LH at the end of the culture by ovulation of mature oocytes. Reported here are the distinctly different in vitro growth patterns of follicles explanted from 22- to 24-day-old mice during a period when the colony was being treated for skin parasites with tetrachlorvinphos (TCVP) (Rabond). There is to date no information on the effects of this compound on the mammalian female reproductive system. For follicles from the TCVP treated group, the duration of growth as intact follicles was markedly reduced in comparison to mice of the same strain and source not treated with TCVP. In the treated group, premature termination of follicular growth was also associated with the spontaneous expulsion of oocytes with immature nuclei and without cumulus cells. For those follicles from treated mice that did remain in culture until the day luteinizing hormone was given, the ovulatory response was poor and the maturation response of the oocytes was low in comparison with the follicles from untreated mice. The effect of the treatment on the follicles was further characterized by obvious differences in the patterns of growth. Follicles in the untreated group grew in a linear pattern at around 25 microns/day; a single phase, fast pattern for the whole culture period.(ABSTRACT TRUNCATED AT 250 WORDS)

  13. Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

    PubMed Central

    Cox, Kathryn; Bryce, Jillian; Jiang, Jipu; Rodie, Martina; Sinnott, Richard; Alkhawari, Mona; Arlt, Wiebke; Audi, Laura; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Darendeliler, Feyza; Drop, Stenvert; Ellaithi, Mona; Guran, Tulay; Hiort, Olaf; Holterhus, Paul-Martin; Hughes, Ieuan; Krone, Nils; Lisa, Lidka; Morel, Yves; Soder, Olle; Wieacker, Peter

    2014-01-01

    Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases. Objective: To report the range of associated conditions identified in the international DSD (I-DSD) Registry. Design, Setting, and Patients: Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician. Results: Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations. Conclusions: Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person. PMID:24302751

  14. Early neuromodulation prevents the development of brain and behavioral abnormalities in a rodent model of schizophrenia.

    PubMed

    Hadar, R; Bikovski, L; Soto-Montenegro, M L; Schimke, J; Maier, P; Ewing, S; Voget, M; Wieske, F; Götz, T; Desco, M; Hamani, C; Pascau, J; Weiner, I; Winter, C

    2017-04-04

    The notion that schizophrenia is a neurodevelopmental disorder in which neuropathologies evolve gradually over the developmental course indicates a potential therapeutic window during which pathophysiological processes may be modified to halt disease progression or reduce its severity. Here we used a neurodevelopmental maternal immune stimulation (MIS) rat model of schizophrenia to test whether early targeted modulatory intervention would affect schizophrenia's neurodevelopmental course. We applied deep brain stimulation (DBS) or sham stimulation to the medial prefrontal cortex (mPFC) of adolescent MIS rats and respective controls, and investigated its behavioral, biochemical, brain-structural and -metabolic effects in adulthood. We found that mPFC-DBS successfully prevented the emergence of deficits in sensorimotor gating, attentional selectivity and executive function in adulthood, as well as the enlargement of lateral ventricle volumes and mal-development of dopaminergic and serotonergic transmission. These data suggest that the mPFC may be a valuable target for effective preventive treatments. This may have significant translational value, suggesting that targeting the mPFC before the onset of psychosis via less invasive neuromodulation approaches may be a viable preventive strategy.Molecular Psychiatry advance online publication, 4 April 2017; doi:10.1038/mp.2017.52.

  15. Role of abnormal lipid metabolism in development, progression, diagnosis and therapy of pancreatic cancer

    PubMed Central

    Swierczynski, Julian; Hebanowska, Areta; Sledzinski, Tomasz

    2014-01-01

    There is growing evidence that metabolic alterations play an important role in cancer development and progression. The metabolism of cancer cells is reprogrammed in order to support their rapid proliferation. Elevated fatty acid synthesis is one of the most important aberrations of cancer cell metabolism. An enhancement of fatty acids synthesis is required both for carcinogenesis and cancer cell survival, as inhibition of key lipogenic enzymes slows down the growth of tumor cells and impairs their survival. Based on the data that serum fatty acid synthase (FASN), also known as oncoantigen 519, is elevated in patients with certain types of cancer, its serum level was proposed as a marker of neoplasia. This review aims to demonstrate the changes in lipid metabolism and other metabolic processes associated with lipid metabolism in pancreatic ductal adenocarcinoma (PDAC), the most common pancreatic neoplasm, characterized by high mortality. We also addressed the influence of some oncogenic factors and tumor suppressors on pancreatic cancer cell metabolism. Additionally the review discusses the potential role of elevated lipid synthesis in diagnosis and treatment of pancreatic cancer. In particular, FASN is a viable candidate for indicator of pathologic state, marker of neoplasia, as well as, pharmacological treatment target in pancreatic cancer. Recent research showed that, in addition to lipogenesis, certain cancer cells can use fatty acids from circulation, derived from diet (chylomicrons), synthesized in liver, or released from adipose tissue for their growth. Thus, the interactions between de novo lipogenesis and uptake of fatty acids from circulation by PDAC cells require further investigation. PMID:24605027

  16. Development of Methods of Genotyping Sex for use in Endocrine Disruption Assays

    EPA Science Inventory

    Endocrine disrupting compounds have been shown to completely sex reverse both male and female individuals in amphibian, avian, fish, invertebrate, and reptile species. In many cases these sex-reversed individuals are morphologically indistinguishable from normal individuals. De...

  17. The development of the trabecular meshwork and its abnormality in primary infantile glaucoma.

    PubMed Central

    Anderson, D R

    1981-01-01

    Tissue from ten eyes with infantile glaucoma and from 40 normal eyes of fetuses and infants without glaucoma were examined by light and electron microscopy. In normal development, the corneoscleral coat grows faster than the uveal tract during the last trimester, leading to a posterior migration of the ciliary body attachment from Schwalbe's line (5th month) to the scleral spur (9th month), and then to a location behind the scleral spur (postnatally). In infantile glaucoma, the insertion of the anterior ciliary body and iris overlaps the trabecular meshwork, similar to the late fetal position. The trabecular sheets are perforated, and there is no membrane over the surface of the trabecular meshwork. The trabecular beams are thicker than in normal infant eyes. There is both histologic and clinical evidence of traction on the iris root exerted by the thickened trabecular beams. These findings suggest that in congenital glaucoma the thickened beams had prevented the normal posterior migration of the ciliary body and iris root. This traction may compact the thickened trabecular beams, obstructing aqueous humor outflow. Release of the traction by an incision (goniotomy or trabeculotomy) of the thickened meshwork may relieve the obstruction. Of uncertain pathological significance is that there are no vacuoles in the endothelium of Schlemm's canal and there is a broad layer of collagen and amorphous material in the juxtacanalicular connective tissue. The ciliary processes are elongated inward, as if they were pulled by zonular traction (perhaps created by an enlarging diameter of the limbus with a fixed lens diameter). Images FIGURE 7 FIGURE 8 FIGURE 10 FIGURE 11 FIGURE 20 A FIGURE 20 B FIGURE 1 FIGURE 3 FIGURE 4 A FIGURE 4 B FIGURE 5 A FIGURE 5 B FIGURE 6 FIGURE 9 FIGURE 12 FIGURE 13 FIGURE 14 FIGURE 15 FIGURE 16 FIGURE 17 FIGURE 18 FIGURE 19 PMID:7342408

  18. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

    PubMed Central

    Paciorkowski, Alex R; Thio, Liu Lin; Rosenfeld, Jill A; Gajecka, Marzena; Gurnett, Christina A; Kulkarni, Shashikant; Chung, Wendy K; Marsh, Eric D; Gentile, Mattia; Reggin, James D; Wheless, James W; Balasubramanian, Sandhya; Kumar, Ravinesh; Christian, Susan L; Marini, Carla; Guerrini, Renzo; Maltsev, Natalia; Shaffer, Lisa G; Dobyns, William B

    2011-01-01

    Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content of these CNVs for enrichment in pathways of pathogenesis. Several important findings emerged. First, the gene content was enriched for the gene regulatory network involved in ventral forebrain development. Second, genes in pathways of synaptic function were overrepresented, significantly those involved in synaptic vesicle transport. Evidence also suggested roles for GABAergic synapses and the postsynaptic density. Third, we confirm the association of ISS with duplication of 14q12 and maternally inherited duplication of 15q11q13, and report the association with duplication of 21q21. We also present a patient with ISS and deletion 7q11.3 not involving MAGI2. Finally, we provide evidence that ISS in deletion 1p36 may be associated with deletion of KLHL17 and expand the epilepsy phenotype in that syndrome to include early infantile epileptic encephalopathy. Several of the identified pathways share functional links, and abnormalities of forebrain synaptic growth and function may form a common biologic mechanism underlying both ISS and autism. This study demonstrates a novel approach to the study of gene content in subjects with ISS and copy number variation, and contributes further evidence to support specific pathways of pathogenesis. PMID:21694734

  19. Differential expression of the MHM region and of sex-determining-related genes during gonadal development in chicken embryos.

    PubMed

    Caetano, L C; Gennaro, F G O; Coelho, K; Araújo, F M; Vila, R A; Araújo, A; de Melo Bernardo, A; Marcondes, C R; Chuva de Sousa Lopes, S M; Ramos, E S

    2014-02-13

    The chicken (Gallus gallus) embryo has been used as a classic model system for developmental studies because of its easy accessibility for surgical manipulation during embryonic development. Sex determination in birds is chromosomally based (ZZ for males and ZW for females); however, the basic mechanism of sex determination is still unknown. Here, the dynamics of expression of candidate genes implicated in vertebrate sex determination and differentiation were studied during embryonic chicken gonadal development. Gene expression profiles were obtained before, during, and after gonadal sex differentiation in females and males for DMRT1, SOX3, SOX9, DAX1, SCII, HINTZ, HINTW, and the male hypermethylated (MHM) region. Transcripts for the HINTZ, DMRT1, DAX1, SCII, and SOX9 genes were observed in both sexes, but expression was higher in male gonads and may be correlated with testicular differentiation. The expression patterns of HINTW, SOX3, and MHM suggest that they may act in ovary development and may be involved in meiosis entry. MHM was upregulated and DMRT1 was downregulated in females at the same developmental stage. This may indicate a regulation of DMRT1 by MHM ncRNA. Similar dynamics were observed between HINTW and HINTZ. This study reports on the MHM expression profile during gonadal development and its correlation with the expression of genes involved in vertebrate sex determination.

  20. Sex differences in the development of angiotensin II-induced hypertension in conscious mice.

    PubMed

    Xue, Baojian; Pamidimukkala, Jaya; Hay, Meredith

    2005-05-01

    Sex has an important influence on blood pressure (BP) regulation. There is increasing evidence that sex hormones interfere with the renin-angiotensin system. Thus the purpose of this study was to determine whether there are sex differences in the development of ANG II-induced hypertension in conscious male and female mice. We used telemetry implants to measure aortic BP and heart rate (HR) in conscious, freely moving animals. ANG II (800 ng.kg(-1).min(-1)) was delivered via an osmotic pump implanted subcutaneously. Our results showed baseline BP in male and female mice to be similar. Chronic systemic infusion of ANG II induced a greater increase in BP in male (35.1 +/- 5.7 mmHg) than in female mice (7.2 +/- 2.0 mmHg). Gonadectomy attenuated ANG II-induced hypertension in male mice (15.2 +/- 2.4 mmHg) and augmented it in female mice (23.1 +/- 1.0 mmHg). Baseline HR was significantly higher in females relative to males (630.1 +/- 7.9 vs. 544.8 +/- 16.2 beats/min). In females, ANG II infusion significantly decreased HR. However, the increase in BP with ANG II did not result in the expected decrease in HR in either intact male or gonadectomized mice. Moreover, the slope of the baroreflex bradycardia to phenylephrine was blunted in males (-5.6 +/- 0.3 to -2.9 +/- 0.5) but not in females (-6.5 +/- 0.5 to -5.6 +/- 0.3) during infusion of ANG II, suggesting that, in male mice, infusion of ANG II results in a resetting of the baroreflex control of HR. Ganglionic blockade resulted in greater reduction in BP on day 7 after ANG II infusion in males compared with females (-61.0 +/- 8.9 vs. -36.6 +/- 6.6 mmHg), suggesting an increased contribution of sympathetic nerve activity in arterial BP maintenance in male mice. Together, these data indicate that there are sex differences in the development of chronic ANG II-induced hypertension in conscious mice and that females may be protected from the increases in BP induced by ANG II.

  1. New genomic technologies: an aid for diagnosis of disorders of sex development.

    PubMed

    Barseghyan, H; Délot, E; Vilain, E

    2015-05-01

    The Chicago Consensus Conference of 2005 defined Disorders of Sex Development (DSD) as "congenital conditions in which the development of chromosomal, gonadal or anatomic sex is atypical." DSD diagnoses are difficult to establish. A lack of standardization of anatomical and endocrine phenotyping and the limited number of known DSD genes and genotype/correlation has long hampered the field, leaving many patients without a definitive diagnosis. The resulting uncertainty may intrinsically pose a great amount of discomfort to affected individuals and their families. DSD-causative genes have historically been identified thanks to positional cloning of disease-associated variants segregating in families or chromosomal rearrangements. Recent advances of chromosomal microarray and exome sequencing technologies are allowing for higher rates of diagnostic success for DSD patients and are changing clinical practice. In this review, we discuss the application of these technologies and their findings as an upcoming model for clinical diagnosis of DSD. We show that exome sequencing is a valuable tool and we propose that it should be used as a first-stage diagnostic technique because it allows for early identification of a genetic cause that may be critical for patient management.

  2. Timing of male sex pheromone biosynthesis in a butterfly - different dynamics under direct or diapause development.

    PubMed

    Larsdotter-Mellström, Helena; Murtazina, Rushana; Borg-Karlson, Anna-Karin; Wiklund, Christer

    2012-05-01

    The life history traits and behavior of the butterfly Pieris napi are well-known, as the species is often used as a model organism for evolutionary and ecological studies. The species has two or more generations per year in the major part of its temperate distribution, and as different selection pressures affect the different generations, both behavioral and physiological seasonal polyphenisms have been shown previously. Here, we explored the dynamics of male sex pheromone production. The two generations are shown to have significantly different scent compositions early in life; the direct developers--who have shorter time for pupal development--need the first 24 hr of adult life after eclosion to synthesize the sex pheromone citral (geranial and neral 1:1)--whereas the diapausing individuals who have spent several months in the pupal stage eclose with adult scent composition. Resource allocation and biosynthesis also were studied in greater detail by feeding butterflies (13)C labeled glucose either in the larval or adult stage, and recording incorporation into geranial, neral, and other volatiles produced. Results demonstrate that the pheromone synthesized by newly eclosed adult males is based on materials ingested in the larval stage, and that adult butterflies are able to synthesize the pheromone components geranial and neral and the related alcohols also from adult intake of glucose. In summary, our study shows that time-stress changes the timing in biosynthesis of the complete pheromone between generations, and underpins the importance of understanding resource allocation and the physiological basis of life history traits.

  3. Parental Reports of Stigma Associated with Child's Disorder of Sex Development

    PubMed Central

    Rolston, Aimee M.; Vilain, Eric; Sandberg, David E.

    2015-01-01

    Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. DSD-associated stigma is purported to threaten positive psychosocial adaptation. Parental perceptions of DSD-related stigma were assessed in 154 parents of 107 children (newborn–17 years) questionnaire comprising two scales, child-focused and parent-focused, and three subscales, perceived stigmatization, future worries, and feelings about the child's condition. Medical chart excerpts identified diagnoses and clinical management details. Stigma scale scores were generally low. Parents of children with DSD reported less stigma than parents of children with epilepsy; however, a notable proportion rated individual items in the moderate to high range. Stigma was unrelated to child's age or the number of DSD-related surgeries. Child-focused stigma scores exceeded parent-focused stigma and mothers reported more stigma than fathers, with a moderate level of agreement. Within 46,XY DSD, reported stigma was higher for children reared as girls. In conclusion, in this first quantitative study of ongoing experiences, DSD-related stigma in childhood and adolescence, while limited in the aggregate, is reported at moderate to high levels in specific areas. Because stigma threatens positive psychosocial adaptation, systematic screening for these concerns should be considered and, when reported, targeted for psychoeducational counseling. PMID:25918529

  4. Sex-related differences in spatial learning during the early postnatal development of the rat.

    PubMed

    Cimadevilla, J M; González-Pardo, H; López, L; Diaz, F; Cueto, E G; Garcia-Moreno, L M; Arias, J L

    1999-06-01

    Some authors have reported that male rats younger than 21 days old are unable to perform spatial learning correctly because they have still not developed the ability to use extra-maze cues. In experiment 1, we analyzed spatial learning in 14-, 21-, 30- and 42-day-old rats using the Morris water maze (MWM). According to our results, a good performance was observed in 30-day-old male rats whereas this was not observed in female rats until they were 42 days old. In experiment 2 we studied the role of sex hormones in this kind of learning using the MWM and 30-day-old rats (castrated male rats and female rats treated with testosterone propionate (TP) after birth). The latter group, the male control group and the castrated males all solved the task correctly. The objective of experiment 3 was to determine possible differences between the sexes in the use of taxon strategies in the T water maze. To summarize, sexual dimorphism was only observed in spatial learning during development.

  5. The Development of Sex-Gender Constancy Among Children in Four Cultures.

    ERIC Educational Resources Information Center

    Munroe, Ruth H.; Munroe, Robert L.

    The study examines the acquisition of gender constancy in children as it relates to cultural, socioenvironmental, or individual differences. Gender constancy refers to the stages from simple identification of biological sex of self and others, to the understanding that one's sex is stable over time, and to comprehension of one's sex as consistent…

  6. Mice with Tak1 deficiency in neural crest lineage exhibit cleft palate associated with abnormal tongue development.

    PubMed

    Song, Zhongchen; Liu, Chao; Iwata, Junichi; Gu, Shuping; Suzuki, Akiko; Sun, Cheng; He, Wei; Shu, Rong; Li, Lu; Chai, Yang; Chen, YiPing

    2013-04-12

    Cleft palate represents one of the most common congenital birth defects in humans. TGFβ signaling, which is mediated by Smad-dependent and Smad-independent pathways, plays a crucial role in regulating craniofacial development and patterning, particularly in palate development. However, it remains largely unknown whether the Smad-independent pathway contributes to TGFβ signaling function during palatogenesis. In this study, we investigated the function of TGFβ activated kinase 1 (Tak1), a key regulator of Smad-independent TGFβ signaling in palate development. We show that Tak1 protein is expressed in both the epithelium and mesenchyme of the developing palatal shelves. Whereas deletion of Tak1 in the palatal epithelium or mesenchyme did not give rise to a cleft palate defect, inactivation of Tak1 in the neural crest lineage using the Wnt1-Cre transgenic allele resulted in failed palate elevation and subsequently the cleft palate formation. The failure in palate elevation in Wnt1-Cre;Tak1(F/F) mice results from a malformed tongue and micrognathia, resembling human Pierre Robin sequence cleft of the secondary palate. We found that the abnormal tongue development is associated with Fgf10 overexpression in the neural crest-derived tongue tissue. The failed palate elevation and cleft palate were recapitulated in an Fgf10-overexpressing mouse model. The repressive effect of the Tak1-mediated noncanonical TGFβ signaling on Fgf10 expression was further confirmed by inhibition of p38, a downstream kinase of Tak1, in the primary cell culture of developing tongue. Tak1 thus functions to regulate tongue development by controlling Fgf10 expression and could represent a candidate gene for mutation in human PRS clefting.

  7. Clinical characteristics, cytogenetic and molecular findings in patients with disorders of sex development.

    PubMed

    Tian, Li; Chen, Ming; Peng, Jian-hong; Zhang, Jian-wu; Li, Li

    2014-02-01

    The clinical characteristics of patients with disorders of sex development (DSD), and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome (TS), one case of Super female syndrome, 25 cases of Klinefelter syndrome, 14 cases of 46,XX DSD, and one case of autosomal balanced rearrangements with hypospadias. The diagnosis of sex was made through physical examination, cytogenetic assay, ultrasonography, gonadal biopsy and hormonal analysis. PCR was used to detect SRY, ZFX, ZFY, DYZ3 and DYZ1 loci on Y and X chromosomes respectively. The DSD patients with the same category had similar clinical characteristics. The karyotypes in peripheral blood lymphocytes of all patients were identified. PCR-based analysis showed presence or absence of the X/Y-linked loci in several cases. Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. Of the 6 cases of TS, only 1 case with the karyotype of 45,X,/46,XX/46,XY was positive for all 5 loci. Of the 25 cases of Klinefelter syndrome, all were positive for all 5 loci. In one case of rare Klinefelter syndrome variants azoospermia factor (AZF) gene detection revealed the loss of the AZFa+AZFb region. In 14 cases of 46,XX DSD, 7 cases were positive for SRY, 14 for ZFX, 7 for ZFY, 7 for ZYZ3, and 5 for DYZ1. PCR can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of DSD.

  8. Sex-specific associations of testosterone with prefrontal-hippocampal development and executive function.

    PubMed

    Nguyen, Tuong-Vi; Lew, Jimin; Albaugh, Matthew D; Botteron, Kelly N; Hudziak, James J; Fonov, Vladimir S; Collins, D Louis; Ducharme, Simon; McCracken, James T

    2017-02-01

    Testosterone is thought to play a crucial role in mediating sexual differentiation of brain structures. Examinations of the cognitive effects of testosterone have also shown beneficial and potentially sex-specific effects on executive function and mnemonic processes. Yet these findings remain limited by an incomplete understanding of the critical timing and brain regions most affected by testosterone, the lack of documented links between testosterone-related structural brain changes and cognition, and the difficulty in distinguishing the effects of testosterone from those of related sex steroids such as of estradiol and dehydroepiandrosterone (DHEA). Here we examined associations between testosterone, cortico-hippocampal structural covariance, executive function (Behavior Rating Inventory of Executive Function) and verbal memory (California Verbal Learning Test-Children's Version), in a longitudinal sample of typically developing children and adolescents 6-22 yo, controlling for the effects of estradiol, DHEA, pubertal stage, collection time, age, handedness, and total brain volume. We found prefrontal-hippocampal covariance to vary as a function of testosterone levels, but only in boys. Boys also showed a specific association between positive prefrontal-hippocampal covariance (as seen at higher testosterone levels) and lower performance on specific components of executive function (monitoring the action process and flexibly shifting between actions). We also found the association between testosterone and a specific aspect of executive function (monitoring) to be significantly mediated by prefrontal-hippocampal structural covariance. There were no significant associations between testosterone-related cortico-hippocampal covariance and verbal memory. Taken together, these findings highlight the developmental importance of testosterone in supporting sexual differentiation of the brain and sex-specific executive function.

  9. VEGFA: Just one of multiple mechanisms for Sex-Specific Vascular Development within the testis?

    PubMed Central

    Sargent, Kevin M.; McFee, Renee M.; Spuri Gomes, Renata; Cupp, Andrea S.

    2015-01-01

    Testis development from an indifferent gonad is a critical step in embryogenesis. A hallmark of testis differentiation is sex-specific vascularization which occurs as endothelial cells migrate from the adjacent mesonephros into the testis to surround Sertoli-germ cell aggregates and induce seminiferous cord formation. Many in vitro experiments have demonstrated that Vascular Endothelial Growth Factor A (VEGFA) is a critical regulator of this process. Both inhibitors to VEGFA signal transduction and excess VEGFA isoforms in testis organ cultures impaired vascular development and seminiferous cord formation. However, in vivo models using mice which selectively eliminated all VEGFA isoforms: in Sertoli and germ cells (pDmrt1-Cre;Vegfa−/−); Sertoli and Leydig cells (Amhr2-Cre;Vegfa−/−) or Sertoli cells (Amh-Cre;Vegfa−/− and Sry-Cre;Vegfa−/−) displayed testes with observably normal cords and vasculature at postnatal day 0 and onwards. Embryonic testis development may be delayed in these mice; however, the postnatal data indicate that VEGFA isoforms secreted from Sertoli, Leydig or germ cells are not required for testis morphogenesis within the mouse. A Vegfa signal transduction array was employed on postnatal testes from Sry-Cre;Vegfa−/− versus controls. Ptgs1 (Cox1) was the only upregulated gene (5-fold). COX1 stimulates angiogenesis and upregulates, VEGFA, Prostaglandin E2 (PGE2) and PGD2. Thus, other gene pathways may compensate for VEGFA loss, similar to multiple independent mechanisms to maintain SOX9 expression. Multiple independent mechanism that induce vascular development in the testis may contribute to and safeguard the sex-specific vasculature development responsible for inducing seminiferous cord formation, thus, ensuring appropriate testis morphogenesis in the male. PMID:26562337

  10. Drug use and Hispanic men who have sex with men in South Florida: implications for intervention development.

    PubMed

    Fernández, M Isabel; Jacobs, Robin J; Warren, Jacob C; Sanchez, Jesus; Bowen, G Stephen

    2009-10-01

    Despite continued high HIV risk among Hispanic men who have sex with men (HMSM), culturally tailored, theoretically based interventions have yet to be developed and tested. As a first step toward intervention development, we collected quantitative and qualitative data on sociocultural and psychological factors associated with drug use and risky sex among 566 HMSM recruited from community and Internet venues. Participants reported high rates of drug use (43%), unprotected anal sex (45%), and multiple sex partners (median 4) in the past 6 months. In multivariate analyses, use of drugs was associated with HIV seropositivity, less orientation to the Hispanic community, stronger attachment to the gay community, lower levels of homophobia, higher numbers of sex partners and more unprotected anal sex. The need for acceptance and desire to please partners emerged as core drivers of HIV risk in the qualitative data. Findings were used to guide development of Proyecto SOL, a theoretically grounded intervention that targets core determinants of HIV risk, builds on protective cultural influences, and strengthens positive social connections.

  11. Psychosexual development in children with disorder of sex development (DSD)--results from the German Clinical Evaluation Study.

    PubMed

    Jürgensen, M; Kleinemeier, E; Lux, A; Steensma, T D; Cohen-Kettenis, P T; Hiort, O; Thyen, U

    2010-06-01

    Psychosexual development is influenced by biological and psychosocial factors. Human beings show a great variability in psychosexual development both between and within gender-groups. However, there are relatively stable gender-related behaviors and self-perceptions, in which males and females differ distinctly. There is strong evidence that high concentrations of androgens lead to more male-typical behavior and that this also influences gender identity. Disorders of sex development (DSD) provide the opportunity to analyze the role of different factors on psychosexual development. We examined 166 children age 4 to 12 with DSD using instruments concerning gender role behavior, gender identity, and friendship. Results underline the hypothesis, that androgens play a decisive role in the masculinization of gender role behavior in children. There are also some relations between the experience of gender change and psychosexual outcomes which have to be discussed. Nevertheless, results indicated a high congruence between the children's gender identity and gender of rearing.

  12. Disorders of sex development and gender identity outcome in adolescence and adulthood: understanding gender identity development and its clinical implications.

    PubMed

    de Vries, Annelou L C; Doreleijers, Theo A H; Cohen-Kettenis, Peggy T

    2007-06-01

    This article reviews studies on gender identity outcome in individuals with disorders of sex development (DSD). It appears that a high percentage of affected individuals suffer from gender dysphoria. However, these figures differ substantially among the various DSD and they never reach 100%. From the studies it also becomes clear that a distinction should be made between gender role behavior and gender identity. Put in a broader theoretical framework, there is now more evidence that biological factors influence the development of gender role behavior than gender identity. Developmental psychology studies add evidence that social and psychological factors play a role as well in gender development. Clinicians should be aware of, but not overestimate the influences of neurobiological factors in gender development.

  13. The European disorder of sex development registry: a virtual research environment.

    PubMed

    Ahmed, S F; Rodie, M; Jiang, J; Sinnott, R O

    2010-09-01

    Disorders of sex development (DSD) are a rare group of conditions which require further research. Effective research into understanding the aetiology, as well as long-term outcome of these rare conditions, requires multicentre collaboration often across national boundaries. The EU-funded EuroDSD programme (www.eurodsd.eu) is one such collaboration involving clinical centres and clinical and genetic experts across Europe. At the heart of the EuroDSD collaboration is a European DSD registry and a targeted virtual research environment (VRE) that supports the sharing of DSD data. Security, ethics and information governance are cornerstones of this infrastructure. This paper describes the infrastructure that has been developed, the inherent challenges in security, availability and dependability that must be overcome for the enterprise to succeed and provides a sample of the data that are stored in the registry along with a summary analysis of the current data sets.

  14. Sex differences in the development of perceived family cohesion and depressive symptoms in Taiwanese adolescents.

    PubMed

    Sze, Tat-Ming; Hsieh, Pei-Jung; Lin, Sieh-Hwa; Chen, I-Jung

    2013-08-01

    This study investigates the progression of family cohesion perceptions and depressive symptoms during the character development stage in adolescents. Data were used from the Taiwan Youth Project. The final sample comprised 2,690 adolescents with 1,312 girls (48.8%; M age = 13.0 yr., SD = 0.5). Latent curve growth analysis was employed to explore these developments. Seventh-grade girls reported greater family cohesion and more depressive symptoms than boys, and boys reported greater growth in family cohesion than girls. However, progression of depressive symptoms was not associated with the child's sex. Higher perceived family cohesion in Grade 7 correlated with less increase of depressive symptoms from Grades 9 to 11. The long-term positive influence of family cohesion on depressive symptoms is discussed.

  15. Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.

    PubMed

    Rush, Eric T; Schaefer, G Bradley; Sanger, Warren G; Coccia, Peter F

    2015-01-01

    Sex chromosome aneuploidies range in incidence from rather common to exceedingly rare and have a variable phenotype. We report 2 patients with sex chromosome aneuploidies who developed severe aplastic anemia requiring treatment. The first patient had tetrasomy X (48,XXXX) and presented at 9 years of age, and the second patient had trisomy X (47,XXX) and presented at 5 years of age. Although aplastic anemia has been associated with other chromosomal abnormalities, sex chromosome abnormalities have not been traditionally considered a risk factor for this condition. A review of the literature reveals that at least one other patient with a sex chromosome aneuploidy (45,X) has suffered from aplastic anemia and that other autosomal chromosomal anomalies have been described. Despite the uncommon nature of each condition, it is possible that the apparent association is coincidental. A better understanding of the genetic causes of aplastic anemia remains important.

  16. Role of Environment and Sex Differences in the Development of Autoimmune Diseases: A Roundtable Meeting Report

    PubMed Central

    Mallampalli, Monica P.; Davies, Erika; Wood, Debra; Robertson, Hillary; Polato, Federica

    2013-01-01

    Abstract Autoimmune diseases (ADs) impose substantial health and financial burdens in the United States and in many parts of the world. Women are disproportionately affected by many of these disorders, which often contribute to lifelong disabilities. While the number of patients with some ADs appears to be rising, the complexities of conducting epidemiological studies prevent a thorough understanding of the prevalence and incidence of these various conditions. Research on environmental influences of these illnesses is limited, although they are generally hypothesized to result from the interaction of environmental agents in genetically susceptible individuals. Further, there is little known regarding the role of sex and gender in the environmentally influenced mechanisms leading to the development of AD. To address these issues, particularly the roles of environment and sex and gender in ADs and the factors that contribute to the rise in ADs, the Society for Women's Health Research convened an interdisciplinary roundtable of experts from academia, medicine, and government agencies to share their expertise, address knowledge gaps in research, and propose future research recommendations. PMID:23829184

  17. Body image and sexuality in Indonesian adults with a disorder of sex development (DSD).

    PubMed

    Ediati, Annastasia; Juniarto, Achmad Zulfa; Birnie, Erwin; Drop, Stenvert L S; Faradz, Sultana M H; Dessens, Arianne B

    2015-01-01

    In Indonesia, disorders of sex development (DSDs) are not well recognized and medical care for affected individuals is scarce. Consequently, many patients live with ambiguous genitalia and appearance. We compared reported outcomes on body image, sexual functioning, and sexual orientation of 39 adults with DSDs (aged 18 to 41) and 39 healthy controls matched for gender, age, and residential setting (urban, suburban, rural). Differences in gender and treatment status (treated or untreated) were also explored. On body image, adults with DSDs reported dissatisfaction with sex-related body parts. Compared to the matched controls, women with DSDs reported greater sexual distress, and men with DSDs reported lower erectile and ejaculation frequencies, and more dissatisfaction with sexual life but not with sexual desire and activities. Men with DSDs who had undergone genital surgery reported higher erectile and ejaculation frequencies than untreated men. More women than men in the DSDs group reported a nonexclusive heterosexual orientation. DSDs and infertility had a great impact on sexuality. Fear of ostracism complicated DSD acceptance. Findings were compared to those of Western studies. Based on these results, education about DSDs and their psychosexual consequences may help reduce the sexual distress and problems in adults with DSDs and improve quality of life.

  18. Sperm exposure to carbon-based nanomaterials causes abnormalities in early development of purple sea urchin (Paracentrotus lividus).

    PubMed

    Mesarič, Tina; Sepčić, Kristina; Drobne, Damjana; Makovec, Darko; Faimali, Marco; Morgana, Silvia; Falugi, Carla; Gambardella, Chiara

    2015-06-01

    We examined egg fertilisation in purple sea urchin (Paracentrotus lividus) after sperm exposure to carbon-based nanomaterials, carbon black (CB) and graphene oxide (GO), from 0.0001 mg/L to 1.0mg/L. Gastrula stage embryos were investigated for acetylcholinesterase and propionylcholinesterase activities, and their morphological characteristics. Plutei were analysed for morphological abnormalities, with emphasis on skeletal rod formation. Egg fertilisation was significantly affected by CB, at all concentrations tested. Loss of cell adhesion at the gastrula surface was observed in eggs fertilised with sperm treated with CB. However, concentration-dependent morphological anomalies were observed in the gastrulae and plutei formed after sperm exposure to either CB or GO. The activities of both cholinesterases decreased in the gastrulae, although not in a concentration-dependent manner. These effects appear to arise from physical interactions between these carbon-based nanomaterials and the sperm, whereby nanomaterials attached to the sperm surface interfere with fertilisation, which leads to disturbances in the signalling pathways of early embryonic development. Reduced cholinesterase activity in gastrulae from eggs fertilised with nanomaterial-treated sperm confirms involvement of the cholinergic system in early sea urchin development, including skeletogenesis.

  19. Blocking Endogenous Leukemia Inhibitory Factor During Placental Development in Mice Leads to Abnormal Placentation and Pregnancy Loss

    PubMed Central

    Winship, Amy; Correia, Jeanne; Krishnan, Tara; Menkhorst, Ellen; Cuman, Carly; Zhang, Jian-Guo; Nicola, Nicos A.; Dimitriadis, Evdokia

    2015-01-01

    The placenta forms the interface between the maternal and fetal circulation and is critical for the establishment of a healthy pregnancy. Specialized trophoblast cells derived from the embryonic trophectoderm play a pivotal role in the establishment of the placenta. Leukemia inhibitory factor (LIF) is one of the predominant cytokines present in the placenta during early pregnancy. LIF has been shown to regulate trophoblast adhesion and invasion in vitro, however its precise role in vivo is unknown. We hypothesized that LIF would be required for normal placental development in mice. LIF and LIFRα were immunolocalized to placental trophoblasts and fetal vessels in mouse implantation sites during mid-gestation. Temporally blocking LIF action during specific periods of placental development via intraperitoneal administration of our specific LIFRα antagonist, PEGLA, resulted in abnormal placental trophoblast and vascular morphology and reduced activated STAT3 but not ERK. Numerous genes regulating angiogenesis and oxidative stress were altered in the placenta in response to LIF inhibition. Pregnancy viability was also significantly compromised in PEGLA treated mice. Our data suggest that LIF plays an important role in placentation in vivo and the maintenance of healthy pregnancy. PMID:26272398

  20. The biology of germ cell tumors in disorders of sex development.

    PubMed

    Hersmus, Remko; van Bever, Yolande; Wolffenbuttel, Katja P; Biermann, Katharina; Cools, Martine; Looijenga, Leendert H J

    2017-02-01

    Development of a malignant germ cell tumor, i.e., germ cell cancer (GCC) in individuals with disorders of sex development (DSD) depends on a number of (epi-)genetic factors related to early gonadal- and germ cell development, possibly related to genetic susceptibility. Fetal development of germ cells is orchestrated by strict processes involving specification, migration and the development of a proper gonadal niche. In this review we will discuss the early (epi-)genetic events in normal and aberrant germ cell and gonadal development. Focus will be on the formation of the precursor lesions of GCC in individuals who have DSD. In our view, expression of the different embryonic markers in, and epigenetic profile of the precursor lesions reflects the developmental stage in which these cells are blocked in their maturation. Therefore, these are not a primary pathogenetic driving force. Progression later in life towards a full blown cancer likely depends on additional factors such as a changed endocrine environment in a susceptible individual. Genetic susceptibility is, as evidenced by the presence of specific risk genetic variants (SNPs) in patients with a testicular GCC, related to genes involved in early germ cell and gonadal development.

  1. Sex determination in mythology and history.

    PubMed

    Mittwoch, Ursula

    2005-02-01

    The history of ideas on how the sexes became divided spans at least three thousand years. The biblical account of the origin of Eve, and the opinions of the philosophers of classical Greece, have unexpected bearings on present-day ideas. The scientific study of sex determination can be said to have begun in the 17th century with the discovery of spermatozoa, but the origin and function of the "spermatic animalcules" eluded investigators until 1841. The mammalian egg was discovered in 1827, and in the last quarter of the century fertilization was observed. The view current at that time, that sex determination was under environmental control, gave way to the idea of chromosomal determination in the first quarter of the 20th century. The study of human and other mammalian chromosomes during the third quarter of the century, and the discovery of sex-chromosome abnormalities, emphasized the importance of the Y chromosome for male sex determination. The last quarter of the century witnessed a hunt for the "testis-determining" gene, thought to be responsible for the differentiation of Sertoli cells, and culminating in the isolation of SRY (Sry in the mouse). However, an increasing number of additional genes and growth factors were found to be required for the establishment of male sex. During the same period evidence emerged that male development was accompanied by enhanced growth, both of gonads and whole embryos. An unexpected finding was the demonstration of temperature-dependent sex determination in reptiles. With the advent of the 21st century, it was shown that Sry induces cell proliferation in fetal mouse gonads, and it has been suggested that male sex differentiation in mammals requires a higher metabolic rate. These insights could lead to a better understanding and improved treatment of abnormalities of sexual development.

  2. The role of sexually explicit material in the sexual development of same-sex-attracted Black adolescent males.

    PubMed

    Arrington-Sanders, Renata; Harper, Gary W; Morgan, Anthony; Ogunbajo, Adedotun; Trent, Maria; Fortenberry, J Dennis

    2015-04-01

    Sexually explicit material (SEM) (including Internet, video, and print) may play a key role in the lives of Black same-sex sexually active youth by providing the only information to learn about sexual development. There is limited school- and/or family-based sex education to serve as models for sexual behaviors for Black youth. We describe the role SEM plays in the sexual development of a sample of Black same-sex attracted (SSA) young adolescent males ages 15-19. Adolescents recruited from clinics, social networking sites, and through snowball sampling were invited to participate in a 90-min, semi-structured qualitative interview. Most participants described using SEM prior to their first same-sex sexual experience. Participants described using SEM primarily for sexual development, including learning about sexual organs and function, the mechanics of same-gender sex, and to negotiate one's sexual identity. Secondary functions were to determine readiness for sex; to learn about sexual performance, including understanding sexual roles and responsibilities (e.g., "top" or "bottom"); to introduce sexual performance scripts; and to develop models for how sex should feel (e.g., pleasure and pain). Youth also described engaging in sexual behaviors (including condom non-use and/or swallowing ejaculate) that were modeled on SEM. Comprehensive sexuality education programs should be designed to address the unmet needs of young, Black SSA men, with explicit focus on sexual roles and behaviors that may be inaccurately portrayed and/or involve sexual risk-taking (such as unprotected anal intercourse and swallowing ejaculate) in SEM. This work also calls for development of Internet-based HIV/STI prevention strategies targeting young Black SSA men who may be accessing SEM.

  3. The Role of Sexually Explicit Material (SEM) in the Sexual Development of Black Young Same-Sex-Attracted Men

    PubMed Central

    Morgan, Anthony; Ogunbajo, Adedotun; Trent, Maria; Harper, Gary W.; Fortenberry, J. Dennis

    2015-01-01

    Sexually explicit material (SEM) (including Internet, video, and print) may play a key role in the lives of Black same-sex sexually active youth by providing the only information to learn about sexual development. There is limited school-and/or family-based sex education to serve as models for sexual behaviors for Black youth. We describe the role SEM plays in the sexual development of a sample of Black same-sex attracted (SSA) young adolescent men ages 15–19. Adolescents recruited from clinics, social networking sites, and through snowball sampling were invited to participate in a 90-min, semi-structured qualitative interview. Most participants described using SEM prior to their first same-sex sexual experience. Participants described using SEM primarily for sexual development, including learning about sexual organs and function, the mechanics of same-gender sex, and to negotiate one’s sexual identity. Secondary functions were to determine readiness for sex; to learn about sexual performance, including understanding sexual roles and responsibilities (e.g., “top” or “bottom”); to introduce sexual performance scripts; and to develop models for how sex should feel (e.g., pleasure and pain). Youth also described engaging in sexual behaviors (including condom non-use and/or swallowing ejaculate) that were modeled on SEM. Comprehensive sexuality education programs should be designed to address the unmet needs of young, Black SSA young men, with explicit focus on sexual roles and behaviors that may be inaccurately portrayed and/or involve sexual risk-taking (such as unprotected anal intercourse and swallowing ejaculate) in SEM. This work also calls for development of Internet-based HIV/STI prevention strategies targeting young Black SSA men who maybe accessing SEM. PMID:25677334

  4. Abnormal immune system development and function in schizophrenia helps reconcile diverse findings and suggests new treatment and prevention strategies.

    PubMed

    Anders, Sherry; Kinney, Dennis K

    2015-08-18

    Extensive research implicates disturbed immune function and development in the etiology and pathology of schizophrenia. In addition to reviewing evidence for immunological factors in schizophrenia, this paper discusses how an emerging model of atypical immune function and development helps explain a wide variety of well-established - but puzzling - findings about schizophrenia. A number of theorists have presented hypotheses that early immune system programming, disrupted by pre- and perinatal adversity, often combines with abnormal brain development to produce schizophrenia. The present paper focuses on the hypothesis that disruption of early immune system development produces a latent immune vulnerability that manifests more fully after puberty, when changes in immune function and the thymus leave individuals more susceptible to infections and immune dysfunctions that contribute to schizophrenia. Complementing neurodevelopmental models, this hypothesis integrates findings on many contributing factors to schizophrenia, including prenatal adversity, genes, climate, migration, infections, and stress, among others. It helps explain, for example, why (a) schizophrenia onset is typically delayed until years after prenatal adversity, (b) individual risk factors alone often do not lead to schizophrenia, and (c) schizophrenia prevalence rates actually tend to be higher in economically advantaged countries. Here we discuss how the hypothesis explains 10 key findings, and suggests new, potentially highly cost-effective, strategies for treatment and prevention of schizophrenia. Moreover, while most human research linking immune factors to schizophrenia has been correlational, these strategies provide ethical ways to experimentally test in humans theories about immune function and schizophrenia. This article is part of a Special Issue entitled SI: Neuroimmunology in Health And Disease.

  5. Characterization of the skeletal fusion with sterility (sks) mouse showing axial skeleton abnormalities caused by defects of embryonic skeletal development.

    PubMed

    Akiyama, Kouyou; Katayama, Kentaro; Tsuji, Takehito; Kunieda, Tetsuo

    2014-01-01

    The development of the axial skeleton is a complex process, consisting of segmentation and differentiation of somites and ossification of the vertebrae. The autosomal recessive skeletal fusion with sterility (sks) mutation of the mouse causes skeletal malformations due to fusion of the vertebrae and ribs, but the underlying defects of vertebral formation during embryonic development have not yet been elucidated. For the present study, we examined the skeletal phenotypes of sks/sks mice during embryonic development and the chromosomal localization of the sks locus. Multiple defects of the axial skeleton, including fusion of vertebrae and fusion and bifurcation of ribs, were observed in adult and neonatal sks/sks mice. In addition, we also found polydactyly and delayed skull ossification in the sks/sks mice. Morphological defects, including disorganized vertebral arches and fusions and bifurcations of the axial skeletal elements, were observed during embryonic development at embryonic day 12.5 (E12.5) and E14.5. However, no morphological abnormality was observed at E11.5, indicating that defects of the axial skeleton are caused by malformation of the cartilaginous vertebra and ribs at an early developmental stage after formation and segmentation of the somites. By linkage analysis, the sks locus was mapped to an 8-Mb region of chromosome 4 between D4Mit331 and D4Mit199. Since no gene has already been identified as a cause of malformation of the vertebra and ribs in this region, the gene responsible for sks is suggested to be a novel gene essential for the cartilaginous vertebra and ribs.

  6. Development of a genetic sexing strain in Bactrocera carambolae (Diptera: Tephritidae) by introgression of sex sorting components from B. dorsalis, Salaya1 strain

    PubMed Central

    2014-01-01

    Background The carambola fruit fly, Bactrocera carambolae Drew & Hancock is a high profile key pest that is widely distributed in the southwestern ASEAN region. In addition, it has trans-continentally invaded Suriname, where it has been expanding east and southward since 1975. This fruit fly belongs to Bactrocera dorsalis species complex. The development and application of a genetic sexing strain (Salaya1) of B. dorsalis sensu stricto (s.s.) (Hendel) for the sterile insect technique (SIT) has improved the fruit fly control. However, matings between B. dorsalis s.s. and B. carambolae are incompatible, which hinder the application of the Salaya1 strain to control the carambola fruit fly. To solve this problem, we introduced genetic sexing components from the Salaya1 strain into the B. carambolae genome by interspecific hybridization. Results Morphological characteristics, mating competitiveness, male pheromone profiles, and genetic relationships revealed consistencies that helped to distinguish Salaya1 and B. carambolae strains. A Y-autosome translocation linking the dominant wild-type allele of white pupae gene and a free autosome carrying a recessive white pupae homologue from the Salaya1 strain were introgressed into the gene pool of B. carambolae. A panel of Y-pseudo-linked microsatellite loci of the Salaya1 strain served as markers for the introgression experiments. This resulted in a newly derived genetic sexing strain called Salaya5, with morphological characteristics corresponding to B. carambolae. The rectal gland pheromone profile of Salaya5 males also contained a distinctive component of B. carambolae. Microsatellite DNA analyses confirmed the close genetic relationships between the Salaya5 strain and wild B. carambolae populations. Further experiments showed that the sterile males of Salaya5 can compete with wild males for mating with wild females in field cage conditions. Conclusions Introgression of sex sorting components from the Salaya1 strain to a

  7. Excess TSH causes abnormal skeletal development in young mice with hypothyroidism via suppressive effects on the growth plate.

    PubMed

    Endo, Toyoshi; Kobayashi, Tetsuro

    2013-09-01

    Hypothyroidism in the young leads to irreversible growth failure. hyt/hyt Mice have a nonfunctional TSH receptor (TSHR) and are severely hypothyroid, but growth retardation was not observed in adult mice. We found that epiphysial cartilage as well as cultured chondrocytes expressed functional TSHR at levels comparable to that seen in the thyroid, and that addition of TSH to cultured chondrocytes suppressed expression of chondrocyte differentiation marker genes such as Sox-9 and type IIa collagen. Next, we compared the long bone phenotypes of two distinct mouse models of hypothyroidism: thyroidectomized (THYx) mice and hyt/hyt mice. Although both THYx and hyt/hyt mice were severely hypothyroid and had similar serum Ca(2+) and growth hormone levels, the tibia was shorter and the proliferating and hypertrophic zones in the growth plate was significantly narrower in THYx mice than in hyt/hyt mice. Supplementation of hyt/hyt mice thyroid hormone resulted in a wider growth plate compared with that of wild-type mice. Expressions of chondrocyte differentiation marker genes Sox-9 and type IIa collagen in growth plate from THYx mice were 52 and 60% lower than those of hyt/hyt mice, respectively. High serum TSH causes abnormal skeletal development in young mice with hypothyroidism via suppressive effects on the growth plate.

  8. Morphological abnormalities, impaired fetal development and decrease in myostatin expression following somatic cell nuclear transfer in dogs.

    PubMed

    Hong, Il-Hwa; Jeong, Yeon-Woo; Shin, Taeyoung; Hyun, Sang-Hwan; Park, Jin-Kyu; Ki, Mi-Ran; Han, Seon-Young; Park, Se-Il; Lee, Ji-Hyun; Lee, Eun-Mi; Kim, Ah-Young; You, Sang-Young; Hwang, Woo-Suk; Jeong, Kyu-Shik

    2011-05-01

    Several mammals, including dogs, have been successfully cloned using somatic cell nuclear transfer (SCNT), but the efficiency of generating normal, live offspring is relatively low. Although the high failure rate has been attributed to incomplete reprogramming of the somatic nuclei during the cloning process, the exact cause is not fully known. To elucidate the cause of death in cloned offspring, 12 deceased offspring cloned by SCNT were necropsied. The clones were either stillborn just prior to delivery or died with dyspnea shortly after birth. On gross examination, defects in the anterior abdominal wall and increased heart and liver sizes were found. Notably, a significant increase in muscle mass and macroglossia lesions were observed in deceased SCNT-cloned dogs. Interestingly, the expression of myostatin, a negative regulator of muscle growth during embryogenesis, was down-regulated at the mRNA level in tongues and skeletal muscles of SCNT-cloned dogs compared with a normal dog. Results of the present study suggest that decreased expression of myostatin in SCNT-cloned dogs may be involved in morphological abnormalities such as increased muscle mass and macroglossia, which may contribute to impaired fetal development and poor survival rates.

  9. Adolescents with Disorders of Sex Development (DSD)--Lost in Transition?

    PubMed

    Auchus, R J; Quint, E H

    2015-05-01

    Children with chronic illnesses face multiple challenges as they mature into adulthood, which relate to independence, access to care, and changes in care providers. The scope and magnitude of these problems is amplified in children with disorders of sex development (DSD). In these children, the normal progression of pubertal events can be early, late, contrasexual, pharmacologically assisted, or some combination of these features. The diagnosis of DSD can occur in childhood, which gives the family some time to prepare for future events, but in other cases, the diagnosis is made during adolescence as the condition becomes apparent. This article discusses the difficulties these children and their families face during adolescence, provides an overview of the transitioning process, and uses a few conditions as examples to illustrate particular aspects.

  10. Exogenous application of estradiol to eggs unexpectedly induces male development in two turtle species with temperature-dependent sex determination.

    PubMed

    Warner, Daniel A; Addis, Elizabeth; Du, Wei-guo; Wibbels, Thane; Janzen, Fredric J

    2014-09-15

    Steroid hormones affect sex determination in a variety of vertebrates. The feminizing effects of exposure to estradiol and the masculinizing effects of aromatase inhibition during development are well established in a broad range of vertebrate taxa, but paradoxical findings are occasionally reported. Four independent experiments were conducted on two turtle species with temperature-dependent sex determination (Chrysemys picta and Chelydra serpentina) to quantify the effects of egg incubation temperature, estradiol, and an aromatase inhibitor on offspring sex ratios. As expected, the warmer incubation temperatures induced female development and the cooler temperatures produced primarily males. However, application of an aromatase inhibitor had no effect on offspring sex ratios, and exogenous applications of estradiol to eggs produced male offspring across all incubation temperatures. These unexpected results were remarkably consistent across all four experiments and both study species. Elevated concentrations of estradiol could interact with androgen receptors or inhibit aromatase expression, which might result in relatively high testosterone concentrations that lead to testis development. These findings add to a short list of studies that report paradoxical effects of steroid hormones, which addresses the need for a more comprehensive understanding of the role of sex steroids in sexual development.

  11. Selection and evaluation of reference genes for analysis of mouse (Mus musculus) sex-dimorphic brain development

    PubMed Central

    Cheung, Tanya T.; Weston, Mitchell K.

    2017-01-01

    The development of the brain is sex-dimorphic, and as a result so are many neurological disorders. One approach for studying sex-dimorphic brain development is to measure gene expression in biological samples using RT-qPCR. However, the accuracy and consistency of this technique relies on the reference gene(s) selected. We analyzed the expression of ten reference genes in male and female samples over three stages of brain development, using popular algorithms NormFinder, GeNorm and Bestkeeper. The top ranked reference genes at each time point were further used to quantify gene expression of three sex-dimorphic genes (Wnt10b, Xist and CYP7B1). When comparing gene expression between the sexes expression at specific time points the best reference gene combinations are: Sdha/Pgk1 at E11.5, RpL38/Sdha E12.5, and Actb/RpL37 at E15.5. When studying expression across time, the ideal reference gene(s) differs with sex. For XY samples a combination of Actb/Sdha. In contrast, when studying gene expression across developmental stage with XX samples, Sdha/Gapdh were the top reference genes. Our results identify the best combination of two reference genes when studying male and female brain development, and emphasize the importance of selecting the correct reference genes for comparisons between developmental stages. PMID:28133578

  12. Potential Adverse Effects of Prolonged Sevoflurane Exposure on Developing Monkey Brain: From Abnormal Lipid Metabolism to Neuronal Damage

    PubMed Central

    Liu, Fang; Rainosek, Shuo W.; Frisch-Daiello, Jessica L.; Patterson, Tucker A.; Paule, Merle G.; Slikker, William; Wang, Cheng; Han, Xianlin

    2015-01-01

    Sevoflurane is a volatile anesthetic that has been widely used in general anesthesia, yet its safety in pediatric use is a public concern. This study sought to evaluate whether prolonged exposure of infant monkeys to a clinically relevant concentration of sevoflurane is associated with any adverse effects on the developing brain. Infant monkeys were exposed to 2.5% sevoflurane for 9 h, and frontal cortical tissues were harvested for DNA microarray, lipidomics, Luminex protein, and histological assays. DNA microarray analysis showed that sevoflurane exposure resulted in a broad identification of differentially expressed genes (DEGs) in the monkey brain. In general, these genes were associated with nervous system development, function, and neural cell viability. Notably, a number of DEGs were closely related to lipid metabolism. Lipidomic analysis demonstrated that critical lipid components, (eg, phosphatidylethanolamine, phosphatidylserine, and phosphatidylglycerol) were significantly downregulated by prolonged exposure of sevoflurane. Luminex protein analysis indicated abnormal levels of cytokines in sevoflurane-exposed brains. Consistently, Fluoro-Jade C staining revealed more degenerating neurons after sevoflurane exposure. These data demonstrate that a clinically relevant concentration of sevoflurane (2.5%) is capable of inducing and maintaining an effective surgical plane of anesthesia in the developing nonhuman primate and that a prolonged exposure of 9 h resulted in profound changes in gene expression, cytokine levels, lipid metabolism, and subsequently, neuronal damage. Generally, sevoflurane-induced neuronal damage was also associated with changes in lipid content, composition, or both; and specific lipid changes could provide insights into the molecular mechanism(s) underlying anesthetic-induced neurotoxicity and may be sensitive biomarkers for the early detection of anesthetic-induced neuronal damage. PMID:26206149

  13. Potential Adverse Effects of Prolonged Sevoflurane Exposure on Developing Monkey Brain: From Abnormal Lipid Metabolism to Neuronal Damage.

    PubMed

    Liu, Fang; Rainosek, Shuo W; Frisch-Daiello, Jessica L; Patterson, Tucker A; Paule, Merle G; Slikker, William; Wang, Cheng; Han, Xianlin

    2015-10-01

    Sevoflurane is a volatile anesthetic that has been widely used in general anesthesia, yet its safety in pediatric use is a public concern. This study sought to evaluate whether prolonged exposure of infant monkeys to a clinically relevant concentration of sevoflurane is associated with any adverse effects on the developing brain. Infant monkeys were exposed to 2.5% sevoflurane for 9 h, and frontal cortical tissues were harvested for DNA microarray, lipidomics, Luminex protein, and histological assays. DNA microarray analysis showed that sevoflurane exposure resulted in a broad identification of differentially expressed genes (DEGs) in the monkey brain. In general, these genes were associated with nervous system development, function, and neural cell viability. Notably, a number of DEGs were closely related to lipid metabolism. Lipidomic analysis demonstrated that critical lipid components, (eg, phosphatidylethanolamine, phosphatidylserine, and phosphatidylglycerol) were significantly downregulated by prolonged exposure of sevoflurane. Luminex protein analysis indicated abnormal levels of cytokines in sevoflurane-exposed brains. Consistently, Fluoro-Jade C staining revealed more degenerating neurons after sevoflurane exposure. These data demonstrate that a clinically relevant concentration of sevoflurane (2.5%) is capable of inducing and maintaining an effective surgical plane of anesthesia in the developing nonhuman primate and that a prolonged exposure of 9 h resulted in profound changes in gene expression, cytokine levels, lipid metabolism, and subsequently, neuronal damage. Generally, sevoflurane-induced neuronal damage was also associated with changes in lipid content, composition, or both; and specific lipid changes could provide insights into the molecular mechanism(s) underlying anesthetic-induced neurotoxicity and may be sensitive biomarkers for the early detection of anesthetic-induced neuronal damage.

  14. Sex-specific environmental influences on the development of autoimmune diseases.

    PubMed

    Tiniakou, Eleni; Costenbader, Karen H; Kriegel, Martin A

    2013-11-01

    Sex differences in autoimmune diseases are evolutionarily tied to the fact that the female immune system is confronted with intense alterations during menstrual cycles, pregnancy and childbirth. These events may be associated with breaches in the mucosal epithelial layers that are shielding us from environmental factors. Associations between environmental agents and autoimmune diseases have been described extensively in prior studies. Little evidence, however, exists for sex-specific environmental effects on autoimmune diseases. In this review, we summarize studies involving this often-neglected aspect. We give examples of environmental factors that may influence the sex bias in autoimmunity. We conclude that most studies do not give insight into sex-specific environmental effects due to the influence of gender-selective social, occupational or other exposures. Prospective studies are needed in order to determine true sex-biased environmental influences. Finally, humanized murine models might aid in better understanding the mechanisms involved in sex-specific environmental effects on autoimmune diseases.

  15. Focus on sex differences in grant applications submitted to the Netherlands Organization for Health Research and Development

    PubMed Central

    Keuken, Debby G; Haafkens, Joke A; Klazinga, Niek S

    2007-01-01

    Background Several measures have been implemented at international level to ensure that there is a greater focus on sex differences in health research. This study evaluates the effect of various formal incentives that were introduced by a Dutch financer of health research to encourage applicants to include sex differences in research proposals. Methods We sampled 213 health research proposals submitted in 2003 to the programmes Prevention (N = 104) and Innovation (N = 109) by the Netherlands Organization for Health Research and Development (ZonMw). These proposals were analysed and categorized with regard to the expressed intention to take sex differences into consideration. Furthermore, those proposals in which such intention was absent were appraised by researchers to determine whether an intention of this kind would have been relevant. Results We found that 23 % of proposals submitted to Prevention (incentive: programme specific instructions) and 10% of those submitted to Innovation (general set of guidelines) took account of sex differences (difference 13%; 95% CI: 3.1–22.9). Conversely, 66% of the research proposals in Prevention, and 20% in Innovation, failed to take sex differences into consideration, even though this might well have been relevant. Conclusion There is still insufficient incentive for those submitting research proposals to ZonMw to systematically incorporate sex differences when drafting such documents. The provisions in ZonMw's policy need to be amended and better monitored. For this, we formulated some recommendations. PMID:17958886

  16. Influence of age, sex, balance, and sport participation on development of kicking by children in grades K-8.

    PubMed

    Butterfield, S A; Loovis, E M

    1994-08-01

    The purpose of this study was to examine the contributions of age, sex, balance, and sport participation on development of kicking by children in Grades K-8. The subjects were 379 boys and 337 girls (ages 4 to 14) enrolled in a medium-sized school system in southeastern Maine. Each subject was individually assessed on kicking development and static and dynamic balance. All subjects completed a survey on their participation in school or community-sponsored soccer. To assess the independent effects of age, sex, static balance, dynamic balance, and sport participation within each grade, data were subjected to multiple regression analysis. Development of mature form was significantly related to sex (Grade 6: boys outperformed girls), static and dynamic balance (Grade 7), and age (Grade 6).

  17. Influence of age, sex, balance, and sport participation on development of throwing by children in grades K-8.

    PubMed

    Butterfield, S A; Loovis, E M

    1993-04-01

    The purpose of this study was to examine the contributions of age, sex, balance, and sport participation on development of throwing by children in Grades K-8. The subjects were 381 boys and 338 girls (ages 4-14) enrolled in a medium-sized school system in southeastern Maine. Each subject was individually assessed in throwing development and static and dynamic balance. In addition, all subjects completed a survey relative to their participation in school- or community-sponsored sports. To determine the independent effects of age, sex, static balance, dynamic balance, and sport participation within each grade, data were subjected to multiple regression analysis, which indicated that mature throwing development was influenced by sport participation and sex. Boys performed better at all grades.

  18. Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

    PubMed

    Reid, Shaina N; Ziermann, Janine M; Gondré-Lewis, Marjorie C

    2015-07-01

    Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith-Lemli-Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE. With a combination of traditional gross dissection and state-of-the-art computed tomography, we demonstrate the deleterious effects of T18 caused by a translocation at 18p11.31. Bony features included a single developmentally unseparated frontal bone, and complete dual absence of the anterior cranial fossa and ethmoid bone. From a superior view with the calvarium plates removed, there was direct visual access to the orbital foramen and hard palate. Both the eyes and the pituitary gland, normally protected by bony structures, were exposed in the cranial cavity and in direct contact with the brain. The middle cranial fossa was shifted anteriorly, and foramina were either missing or displaced to an abnormal location due to the absence or misplacement of its respective cranial nerve (CN). When CN development was conserved in its induction and placement, the respective foramen developed in its normal location albeit with abnormal gross anatomical features, as seen in the facial nerve (CNVII) and the internal acoustic meatus. More anteriorly localized CNs and their foramina were absent or heavily disrupted compared with posterior ones. The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and contributes

  19. Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice.

    PubMed

    Sgariglia, Federica; Candela, Maria Elena; Huegel, Julianne; Jacenko, Olena; Koyama, Eiki; Yamaguchi, Yu; Pacifici, Maurizio; Enomoto-Iwamoto, Motomi

    2013-11-01

    Long bones are integral components of the limb skeleton. Recent studies have indicated that embryonic long bone development is altered by mutations in Ext genes and consequent heparan sulfate (HS) deficiency, possibly due to changes in activity and distribution of HS-binding/growth plate-associated signaling proteins. Here we asked whether Ext function is continuously required after birth to sustain growth plate function and long bone growth and organization. Compound transgenic Ext1(f/f);Col2CreERT mice were injected with tamoxifen at postnatal day 5 (P5) to ablate Ext1 in cartilage and monitored over time. The Ext1-deficient mice exhibited growth retardation already by 2weeks post-injection, as did their long bones. Mutant growth plates displayed a severe disorganization of chondrocyte columnar organization, a shortened hypertrophic zone with low expression of collagen X and MMP-13, and reduced primary spongiosa accompanied, however, by increased numbers of TRAP-positive osteoclasts at the chondro-osseous border. The mutant epiphyses were abnormal as well. Formation of a secondary ossification center was significantly delayed but interestingly, hypertrophic-like chondrocytes emerged within articular cartilage, similar to those often seen in osteoarthritic joints. Indeed, the cells displayed a large size and round shape, expressed collagen X and MMP-13 and were surrounded by an abundant Perlecan-rich pericellular matrix not seen in control articular chondrocytes. In addition, ectopic cartilaginous outgrowths developed on the lateral side of mutant growth plates over time that resembled exostotic characteristic of children with Hereditary Multiple Exostoses, a syndrome caused by Ext mutations and HS deficiency. In sum, the data do show that Ext1 is continuously required for postnatal growth and organization of long bones as well as their adjacent joints. Ext1 deficiency elicits defects that can occur in human skeletal conditions including trabecular bone loss

  20. The trajectory of gray matter development in Broca’s area is abnormal in people who stutter

    PubMed Central

    Beal, Deryk S.; Lerch, Jason P.; Cameron, Brodie; Henderson, Rhaeling; Gracco, Vincent L.; De Nil, Luc F.

    2015-01-01

    The acquisition and mastery of speech-motor control requires years of practice spanning the course of development. People who stutter often perform poorly on speech-motor tasks thereby calling into question their ability to establish the stable neural motor programs required for masterful speech-motor control. There is evidence to support the assertion that these neural motor programs are represented in the posterior part of Broca’s area, specifically the left pars opercularis. Consequently, various theories of stuttering causation posit that the disorder is related to a breakdown in the formation of the neural motor programs for speech early in development and that this breakdown is maintained throughout life. To date, no study has examined the potential neurodevelopmental signatures of the disorder across pediatric and adult populations. The current study aimed to fill this gap in our knowledge. We hypothesized that the developmental trajectory of cortical thickness in people who stutter would differ across the lifespan in the left pars opercularis relative to a group of control participants. We collected structural magnetic resonance images from 116 males (55 people who stutter) ranging in age from 6 to 48 years old. Differences in cortical thickness across ages and between patients and controls were investigated in 30 brain regions previously implicated in speech-motor control. An interaction between age and group was found for the left pars opercularis only. In people who stutter, the pars opercularis did not demonstrate the typical maturational pattern of gradual gray matter thinning with age across the lifespan that we observed in control participants. In contrast, the developmental trajectory of gray matter thickness in other regions of interest within the neural network for speech-motor control was similar for both groups. Our findings indicate that the developmental trajectory of gray matter in left pars opercularis is abnormal in people who stutter

  1. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care.

    PubMed

    Lee, Peter A; Nordenström, Anna; Houk, Christopher P; Ahmed, S Faisal; Auchus, Richard; Baratz, Arlene; Baratz Dalke, Katharine; Liao, Lih-Mei; Lin-Su, Karen; Looijenga, Leendert H J; Mazur, Tom; Meyer-Bahlburg, Heino F L; Mouriquand, Pierre; Quigley, Charmian A; Sandberg, David E; Vilain, Eric; Witchel, Selma

    2016-01-01

    The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. An effort was made to include representatives from a broad perspective including support and advocacy groups. The goal of patient care is focused upon the best possible quality of life (QoL). The field of DSD is continuously developing. An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups. Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves QoL. The evolution of diagnosis and care continues, while it is still impossible to predict gender development in an individual case with certainty. Such decisions and decisions regarding surgery during infancy that alters external genital anatomy or removes germ cells continue to carry risk.

  2. Anticipation of the sexual and gender development of children adopted by same-sex couples.

    PubMed

    Gato, Jorge; Fontaine, Anne Marie

    2013-01-01

    The present study aimed to characterize beliefs surrounding the sexual and gender development of children adopted by lesbian and gay couples. Participants were 768 Portuguese university students. Using a quasiexperimental design, participants were presented with identical descriptions of a couple interested in adopting a child, manipulating couple sexual orientation and child gender. Participants were then asked to anticipate three aspects of the sexual and gender development of the adopted child: sexual orientation, gender role behavior, and gender identity. MANOVAs and follow-up ANOVAs were conducted in order to analyze the data. Results indicated that participants, particularly males, considered children adopted by either lesbian or gay couples to have a lower probability of developing a normative sexual and gender identity than children adopted by heterosexual couples. Both men and women considered that children would emulate the sexual orientation of their same-sex parents, and that a boy's gender role behavior was more at risk if he was adopted by a lesbian couple. Moreover, men were apprehensive about the gender role behavior of a boy adopted by a gay male couple. Overall, these results indicate persistence of biased evaluations of the sexual and gender development of children adopted by lesbian and gay parents. Furthermore, both gender of the participant and gender of the child play an important role in these evaluations. Results are discussed and interpreted as a way of "doing gender" in the context of hegemonic masculinity.

  3. Gender role behavior in children with XY karyotype and disorders of sex development.

    PubMed

    Jürgensen, Martina; Hiort, Olaf; Holterhus, Paul-Martin; Thyen, Ute

    2007-03-01

    Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder of sex development (DSD). Participants included 33 children (ages 2-12 years) with an XY karyotype and DSD; 21 reared as girls and 12 reared as boys. Children's preferred activities and interests and playmate preferences were assessed with parent report questionnaires, a structured free-play task, and choice of a toy to keep as a gift. Participant's responses were compared to those of children recruited in a pre-school and elementary school survey (N=166). In this study, the degree of hypoandrogenization as indicated by genital stage and diagnosis showed a significant relationship to nearly all of the gender-related behaviors assessed, supporting the hypothesis that masculinization of gender role behavior is a function of prenatal androgen exposure. Despite the fact that children with partial androgen effects reared as girls showed increased "boyish" behaviors, they did not show increased signs of gender identity confusion or instability on a group level. We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions.

  4. The Relationship between Personality Dimensions and Resiliency to Environmental Stress in Orange-Winged Amazon Parrots (Amazona amazonica), as Indicated by the Development of Abnormal Behaviors.

    PubMed

    Cussen, Victoria A; Mench, Joy A

    2015-01-01

    Parrots are popular companion animals, but are frequently relinquished because of behavioral problems, including abnormal repetitive behaviors like feather damaging behavior and stereotypy. In addition to contributing to pet relinquishment, these behaviors are important as potential indicators of diminished psychological well-being. While abnormal behaviors are common in captive animals, their presence and/or severity varies between animals of the same species that are experiencing the same environmental conditions. Personality differences could contribute to this observed individual variation, as they are known risk factors for stress sensitivity and affective disorders in humans. The goal of this study was to assess the relationship between personality and the development and severity of abnormal behaviors in captive-bred orange-winged Amazon parrots (Amazona amazonica). We monitored between-individual behavioral differences in enrichment-reared parrots of known personality types before, during, and after enrichment deprivation. We predicted that parrots with higher scores for neurotic-like personality traits would be more susceptible to enrichment deprivation and develop more abnormal behaviors. Our results partially supported this hypothesis, but also showed that distinct personality dimensions were related to different forms of abnormal behavior. While neuroticism-like traits were linked to feather damaging behavior, extraversion-like traits were negatively related to stereotypic behavior. More extraverted birds showed resiliency to environmental stress, developing fewer stereotypies during enrichment deprivation and showing lower levels of these behaviors following re-enrichment. Our data, together with the results of the few studies conducted on other species, suggest that, as in humans, certain personality types render individual animals more susceptible or resilient to environmental stress. Further, this susceptibility/resiliency can have a long

  5. Etiological Classification and Clinical Assessment of Children and Adolescents with Disorders of Sex Development

    PubMed Central

    Erdoğan, Sema; Kara, Cengiz; Uçaktürk, Ahmet; Aydın, Murat

    2011-01-01

    Objective: In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published a consensus statement on management of intersex disorders. The aim of our study was to determine the etiological distribution of disorders of sex development (DSD) according to the new DSD classification system and to evaluate the clinical features of DSDs in our patient cohort. Methods: We retrospectively reviewed the records of patients followed up during the past three years. The subjects were divided into three etiologic groups according to their karyotypes. The definite diagnosesin each subgroup were established by clinical and laboratory investigations including abdominopelvic imaging as well as basal and stimulated hormone measurements. Molecular genetic testing, except for CYP21A2 gene, could not be performed. Results: Out of a total of 95 patients, 26 had sex chromosome DSD, 45 had 46,XY DSD and 24 had 46,XX DSD. The most common causes of DSDs were Turner’s syndrome (TS), congenital adrenal hyperplasia (CAH) and androgen insensitivity syndrome (AIS). There was a wide variation in age of presentation ranging from 1 day to 17.5 years with a mean of 6.5±6.5 years. The most frequent complaints at presentation were ambiguous genitalia, isolated perineal hypospadias and short stature. Conclusion: The results of our study demonstrate that the new DSD classification system leads to a major change in the distribution of etiological diagnoses of DSDs, which is exemplified by the significant frequencies of TS and vanishing testes syndrome. This alteration expands the clinical spectrum and increases the mean age at diagnosis. However, the most common causes of ambiguous genitalia, such as CAH and AIS, remain unchanged. Further studies using molecular genetic analyses are needed to give a more precise distribution of etiologies of DSDs, especially in 46,XY patients. Conflict of interest:None declared. PMID:21750636

  6. Psychiatric Approaches for Disorders of Sex Development: Experience of a Multidisciplinary Team

    PubMed Central

    Özbaran, Burcu; Özen, Samim; Gökşen, Damla; Korkmaz, Özlem; Onay, Hüseyin; Özkınay, Ferda; Çoğulu, Özgür; Erermiş, Serpil; Köse, Sezen; Avanoğlu, Ali; Ulman, İbrahim; Darcan, Şükran

    2013-01-01

    Objective: Disorders of sex development (DSD) are a group of congenital medical conditions that affect life as a whole. In this study, we aimed to reflect the experience of a multidisciplinary team in the clinical/psychiatric follow-up of a group of children and adolescents with DSD. Methods: The study group consisted of 51 patients diagnosed with DSD. The Kiddie-Schedule for Affective Disorders and Schizophrenia, Wechsler Intelligence Scale for Children-Revised, Draw a Person Test and Children’s Apperception Test, and the Clinical Global Impression Scale (CGIS) were used for psychiatric evaluations. Results: The mean age of the patients was 7.8 years (median: 7.8; min: 1.0; max: 18.0). Genetic evaluation showed 46,XX configuration in 15 patients (29.4%) and 46,XY in 35 (68.6%). One patient (2.0%) was diagnosed to have a sex chromosome disorder. Forty patients (78.4%) had no problems with their given gender identity and gender role. Thirty-four (66.7%) patients had normal intellectual capacity. Twenty-eight (54.9%) patients did not have any psychiatric problem. Depression, anxiety disorders, attention deficit/hyperactivity disorder, and adjustment disorders were the common diagnoses. The mean score of symptom severity on CGIS-severity-baseline was 6.15±0.68 and after one year, it was 1.46±0.51 (Z=-3.236 p=0.001). The mean score of CGI–Improvement was 1.23±0.44. Conclusion: It is important to identify and treat the psychiatric disorders encountered in patients with DSD. A psychiatrist needs to be included in the professional team following these patients. Examination and observation results need to be shared by holding periodic team meetings to establish a wholesome point of view for every unique child. Conflict of interest:None declared. PMID:24379031

  7. Dexamethasone induces apoptosis in the developing rat amygdala in an age, region, and sex specific manner

    PubMed Central

    Zuloaga, Damian G.; Carbone, David L.; Hiroi, Ryoko; Chong, David L.; Handa, Robert J.

    2011-01-01

    Exposure to glucocorticoids (GCs) in early development can lead to long-term changes in brain function and behavior although little is known about the underlying neural mechanisms. Perinatal exposure to GCs alters adult anxiety and neuroendocrine responses to stress. Therefore, we investigated the effects of either late gestational or neonatal exposure to the GC receptor agonist dexamethasone (DEX), on apoptosis within the amygdala, a region critical for emotional regulation. DEX was administered to timed-pregnant rat dams from gestational day 18 until parturition, or postnatal day 4-6. Offspring were sacrificed the day following the last DEX treatment and tissue was processed for immunohistochemical detection of cleaved caspase-3, a marker for apoptotic cells. Prenatal DEX treatment significantly increased the number of cleaved caspase-3 positive cells in the amygdala of both sexes, largely due to increases within the medial and basomedial sub-regions. Postnatal DEX treatment also increased cleaved caspase-3 immunoreactivity within the amygdala, although effects reached significance only in the central nucleus of females. Overall, DEX induction of cleaved caspase-3 in the amygdala was greater following prenatal compared to postnatal treatment, yet in both instances elevations in cleaved caspase-3 correlated with an increase in pro-apoptotic Bax mRNA expression. Dual-label immunohistochemistry of cleaved caspase-3 and the neuronal marker NeuN confirmed that virtually all cleaved caspase-3 positive cells in the amygdala were neurons and a subset of these cells (primarily following postnatal treatment) expressed a GABAergic calcium binding protein phenotype (calbindin or calretinin). Together these results indicate that early developmental GC exposure induces neuronal apoptosis within the amygdala in an age, sex, and region dependent manner. PMID:22008524

  8. Effects of gamma radiation on development, sterility, fecundity, and sex ratio of Dermanyssus gallinae (DeGeer) (Acari: Dermanyssidae)

    SciTech Connect

    Entrekin, D.L.; Oliver, J.H. Jr.; Pound, J.M.

    1987-06-01

    Protonymphal Dermanyssus gallinae were irradiated with 0.50, 0.75, 1.0, 3.0, and 6.0 krad of gamma radiation and subsequently monitored regarding their developmental, feeding, and mating success. Also, sex ratios of adults treated as protonymphs were recorded as were sex ratios of embryos and F1 adults produced by these adults. Doses up to 1.0 krad did not prevent development of treated protonymphs to the adult stage or stop mating. Three krad reduced the number of treated protonymphs attaining adulthood and 6.0-krad treatment prevented all mites from developing to the adult stage. Egg (embryo) production was normal for mites treated with 0.50 krad, but significantly curtailed by doses of 0.75 krad and greater. Radiation doses used in this study did not appear to affect the normal variable sex ratios observed in untreated mites.

  9. Influence of age, sex, balance, and sport participation on development of sidearm striking by children grades K-8.

    PubMed

    Loovis, E M; Butterfield, S A

    1995-10-01

    The purpose of this study was to examine the contributions of age, sex, balance, and sport participation on development of sidearm-striking by children in Grades K through 8. Each of 380 boys and 337 girls (ages 4-14 years), enrolled in a medium-size school system in southeastern Maine, was individually assessed on side-arm-striking and on static and dynamic balance. All subjects completed a survey relative to their participation in school or community-sponsored sports. To assess the independent effects of age, sex, static balance, dynamic balance, and sport participation within each grade, data were subjected to multiple-regression analysis. Development of mature striking was associated with sex; boys performed better at all grades except in Grade 5 where the percentage of girls showing a mature sidearm-striking pattern approximated that of boys.

  10. Influence of age, sex, balance, and sport participation on development of catching by children grades K-8.

    PubMed

    Loovis, E M; Butterfield, S A

    1993-12-01

    The purpose of this study was to examine the contributions of age, sex, balance, and sport participation on development of catching by children in Grades K to 8. The subjects were 380 boys and 337 girls (ages 4 to 14) enrolled in a medium-sized school system in southeastern Maine. Each subject was individually assessed on catching and static and dynamic balance. In addition, all subjects completed a survey relative to their participation in school or community-sponsored sports. To assess the independent effects of age, sex, static balance, dynamic balance, and participation in sports within each grade, data were subjected to multiple-regression analysis. Mature catching development was influenced by sex; boys performed better at all grades except in Grade 8 all girls and boys showed mature catching patterns.

  11. Innovative Practices and Developments in Vocational Sex Equity. Volume 1, Number 1.

    ERIC Educational Resources Information Center

    Griffin, Ervin V., Ed.; Olson, Linnea, Ed.

    This monograph includes the following papers: "Vocational Sex Equity in Virginia: Ten Years of Progress" (Hawa); "Reducing the Cost of Sexual Harassment in American Organizations" (Tate); "The Role of a Career Resource Center in Extending Vocational Sex Equity into the Classroom" (McCune); "Non-traditional Exploratory Programs for Women: An…

  12. Equity from a Sex Fairness Perspective. Research and Development Series No. 214F.

    ERIC Educational Resources Information Center

    Evans, Nancy Smith

    Legal provisions for sex equity are found in Title II of the Education Amendments of 1976 and Title IX of the Education Amendments of 1972. Although occupational opportunities for women expanded beyond the traditionally sex-segregated occupations during the World War II era, in the seventies legislators decided to require further changes. State…

  13. Vocational Education Sex Equity Strategies. Research and Development Series No. 144.

    ERIC Educational Resources Information Center

    Vetter, Louise; And Others

    Strategies and techniques for increasing sex fairness in vocational education are provided in this guide designed for sex equity personnel, instructors, administrators, counselors, and curriculum planners. Eight chapters of information are provided and are generally organized into the following format: introductory questions, narrative,…

  14. Effects of Sex Chromosome Aneuploidies on Brain Development: Evidence from Neuroimaging Studies

    ERIC Educational Resources Information Center

    Lenroot, Rhoshel K.; Lee, Nancy Raitano; Giedd, Jay N.

    2009-01-01

    Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the…

  15. Developing human rights-based strategies to improve health among female sex workers in Rwanda.

    PubMed

    Binagwaho, Agnès; Agbonyitor, Mawuena; Mwananawe, Aimable; Mugwaneza, Placidie; Irwin, Alec; Karema, Corine

    2010-12-15

    How governments should address sex work is a topic of current debate in Rwanda and other countries. Some constituencies propose harsher punishment of sex workers as the cornerstone of an improved policy. We argue that an adequate policy response to sex work in the Rwandan context must prioritize public health and reflect current knowledge of the social determinants of health. This does not imply intensified repression, but a comprehensive agenda of medical and social support to improve sex workers' access to health care, reduce their social isolation, and expand their economic options. Evidence from social epidemiology converges with rights-based arguments in this approach. Recent field interviews with current and former sex workers strengthen the case, while highlighting the need for further social scientific and epidemiological analysis of sex work in Rwanda. Rwanda has implemented some measures that reflect a rights-based perspective in addressing sex work. For example, recent policies seek to expand access to education for girls and support sex workers in the transition to alternative livelihoods. These policies reinforce the model of solidarity-based public health action for which Rwanda has been recognized. Whether such measures can maintain traction in the face of economic austerity and ideological resistance remains to be seen.

  16. Moral Development in Single-Sex Schools: A Review of the Research

    ERIC Educational Resources Information Center

    Murphy, Madonna M.

    2008-01-01

    This paper is a systematic review of the research studies on single-sex schools conducted in the last decade. It concludes that there is empirical support to the hypothesis that single-sex schools may be advantageous for both boys and girls in terms of promoting academic achievement with a greater degree of order and control in the classroom and…

  17. Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

    PubMed Central

    Becker, Russell E.N.; Akhavan, Ardavan

    2016-01-01

    Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development. This is likely due in part to the high prevalence of a normal 46,XX karyotype in these patients. However, disorders of sex development represent a broad phenotypic spectrum, and often patients cannot be neatly categorized with a single diagnosis. We report an atypical case of ovotesticular disorder of sex development in a child with ambiguous genitalia and 45,X/46,XY mosaic karyotype. Prophylactic bilateral gonadectomy was performed at age 14 months. PMID:26793590

  18. Do sleep abnormalities and misaligned sleep/circadian rhythm patterns represent early clinical characteristics for developing psychosis in high risk populations?

    PubMed

    Zanini, Marcio; Castro, Juliana; Coelho, Fernando Morgadinho; Bittencourt, Lia; Bressan, Rodrigo A; Tufik, Sergio; Brietzke, Elisa

    2013-12-01

    Sleep architecture changes, such as slow-wave sleep (SWS) percentage variations and reductions in latency and density of rapid eye movement (REM), are found in most patients with schizophrenia and are considered to be an important part of the pathophysiology of the disorder. In addition to these sleep parameters changes, disruptions in sleep homeostasis and the sleep/circadian rhythm also occur in these patients. Sleep/circadian rhythm abnormalities negatively affect neocortical plasticity and cognition and often precede the diagnosis of the illness. Thus, it has been suggested that the sleep/circadian rhythm might be involved in the pathophysiology of psychosis. Recent advances in the identification of individuals at a high risk for developing schizophrenia allow us to investigate several neurobiological processes involved in the development of psychosis. In this article, we review the current evidence of the effects of sleep parameter abnormalities, disruptions in sleep homeostasis and misalignments of sleep circadian rhythm on the early stages of schizophrenia. In addition, we discuss the preliminary evidence of sleep and circadian rhythm abnormalities during the prodromal stages of psychosis and propose that these abnormalities can be explored as potential predictors, as an adjunct to clinical diagnosis, of developing a psychotic disorder in at risk populations.

  19. Gonadal sex differentiation, development up to sexual maturity and steroidogenesis in the skipper frog, Euphlyctis cyanophlyctis.

    PubMed

    Phuge, Samadhan K; Gramapurohit, Narahari P

    2013-01-15

    Gonadal sex differentiation, development up to sexual maturity and steroidogenesis were studied in the Indian skipper frog, Euphlyctis cyanophlyctis. In stage 25 tadpoles, gonads contained a few yolk laden germ cells and somatic cells. Ovarian differentiation occurred at stage 27 with the initiation of meiosis. Interestingly, meiosis preceded the formation of a central lumen that was discernible at stage 28. Folliculogenesis in the developing ovary was observed at stage 29. Vitellogenesis was observed in the 3 months old frogs and the females attained sexual maturity around 4 months. Testicular differentiation occurred indirectly through an ovarian phase. In some animals, from stage 37 onwards, oocyte degeneration was observed that was completed around metamorphic climax. Concurrently, large numbers of mesonephric cells were invading the gonads. Around metamorphosis, reorganization of the germ and somatic cells into testicular cords was observed. Following metamorphosis, the formation of seminiferous tubules was observed in the 2 weeks old males. Meiosis in the developing testes was observed in 1.5 months old males. In 3 months old males, the testes contained all stages spermatogenesis including spermatozoa. Steroidogenesis in the developing gonads was studied by immunohistochemical localization of 3β-HSD enzyme. At stage 26, a few immunoreactive cells were seen in the kidneys (interrenal cells). However, during and after differentiation, gonads failed to show positive immunoreaction. In the developing ovary at stage 37, follicular cells surrounding the oocytes were positive for 3β-HSD immunoreactivity. In the ovaries of 3 months old females, follicular cells surrounding the vitellogenic oocytes and stromal cells were positive for 3β-HSD immunoreaction. E. cyanophlyctis exhibits undifferentiated type of gonadal differentiation, in which gonadal differentiation precedes steroidogenesis.

  20. Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia

    PubMed Central

    Juniarto, A. Zulfa; van der Zwan, Yvonne G.; Santosa, Ardy; Hersmus, Remko; de Jong, Frank H.; Olmer, Renske; Bruggenwirth, Hennie T.; Themmen, Axel P. N.; Wolffenbuttel, Katja P.; Looijenga, Leendert H. J.; Faradz, Sultana M. H.; Drop, Stenvert L. S.

    2012-01-01

    Disorder of sex development (DSD) patients in Indonesia most often do not receive a proper diagnostic evaluation and treatment. This study intended to categorize 88 Indonesian patients in accordance with the new consensus DSD algorithm. Diagnostic evaluation including clinical, hormonal, genetic, imaging, surgical, and histological parameters was performed. Fifty-three patients were raised as males, and 34 as females. Of 22 patients with 46, XX DSD, 15 had congenital adrenal hyperplasia, while in one patient, an ovarian Leydig cell tumor was found. In all 58 46, XY DSD patients, 29 were suspected of a disorder of androgen action (12 with an androgen receptor mutation), and in 9, gonadal dysgenesis was found and, in 20, severe hypospadias e.c.i. Implementation of the current consensus statement in a resource-poor environment is very difficult. The aim of the diagnostic workup in developing countries should be to end up with an evidence-based diagnosis. This is essential to improve treatment and thereby to improve the patients' quality of life. PMID:22253624

  1. Long-term health issues related to disorders or differences in sex development/intersex.

    PubMed

    Beale, Jennifer M; Creighton, Sarah M

    2016-12-01

    DSD (Disorders or Differences in Sex Development) and Intersex are terms used to describe a diverse group of congenital conditions where the development of the reproductive system is different from what is usually expected. These conditions usually present at birth or adolescence and the health implications are wide ranging and often life-long. Given the complexity of many of the conditions, health care input when required should be provided by a multidisciplinary team who have appropriate expertise. Holistic care should include the consideration of the risk of cancer, prevention of osteoporosis, advice on hormones, sexual health and fertility options, and ongoing support in order to optimise quality of life and wellbeing. There is little evidence on the health of this group of individuals beyond middle age. Research in this field is essential to guide clinicians in providing high-quality care but also to allow affected individuals to make informed decisions about their own health care. This review will focus on the gynaecological aspects of multidisciplinary management.

  2. Morphometric changes associated with sex and development in the Malpighian tubules of Aedes aegypti.

    PubMed

    de Sousa, R C; Bicudo, H E

    2000-01-01

    The Malpighian tubules of Aedes aegypti showed significant differences in their diameters between male and female larvae, male and female pupae, male larvae and male adults and male pupae and male adults. In every case, female values were greater than in males. Measurements of mean nuclear areas of the principal and stellate cells from Malpighian tubules, taken in males and females during development, showed that this parameter in both types of cell was significantly greater in females than in male larvae, pupae and adult stages. In males, significant differences between developmental stages were observed only in comparison with the nuclear area of larvae and adults in the principal cells, but in females, every comparison between stages showed significant differences except between pupae and adults in stellate cells. The frequency distribution of nuclear area values, in development, for male stellate and principal cells, were mostly concentrated in the first seven classes among the 30 classes considered in every stage, while for females, the frequency dropped drastically in the same classes from larvae to pupae and adults, moving to classes of higher values. Considering the importance of Malpighian tubules in insect physiology, the meaning of the differences detected are discussed on the basis of different metabolic levels, between sexes and developmental stages.

  3. Carol Gilligan's theory of sex differences in the development of moral reasoning during adolescence.

    PubMed

    Muuss, R E

    1988-01-01

    Gilligan's work, which focuses on sex differences in moral reasoning, the perception of violence, the resolution of sexual dilemmas and abortion decisions, poses a major challenge to Kohlberg's theory by introducing a feminist perspective of moral development. Kohlberg had shown that the average female attained a moral judgment rating of stage three (good boy-nice girl), while adolescent males score at level four (law and order) and are more likely to move on to postconventional levels. Gilligan suggests that these findings reveal a gender bias, not that females are less mature than boys. Men and women follow different voices. Men tend to organize social relationships in a hierarchical order and subscribe to a morality of rights. Females value interpersonal connectedness, care, sensitivity, and responsibility to people. Kohlberg's scoring criteria give the interpersonal care orientations of females lower ratings than the principled justice orientation. Hence, Gilligan identifies different developmental stages for females. However, she does not claim that one system is better; both are equally valid. Only by integrating these complementary male (justice) and female (care) orientations will we be able to realize our full human potential in moral development.

  4. Integrated small copy number variations and epigenome maps of disorders of sex development

    PubMed Central

    Amarillo, Ina E; Nievera, Isabelle; Hagan, Andrew; Huchthagowder, Vishwa; Heeley, Jennifer; Hollander, Abby; Koenig, Joel; Austin, Paul; Wang, Ting

    2016-01-01

    Small copy number variations (CNVs) have typically not been analyzed or reported in clinical settings and hence have remained underrepresented in databases and the literature. Here, we focused our investigations on these small CNVs using chromosome microarray analysis (CMA) data previously obtained from patients with atypical characteristics or disorders of sex development (DSD). Using our customized CMA track targeting 334 genes involved in the development of urogenital and reproductive structures and a less stringent analysis filter, we uncovered small genes with recurrent and overlapping CNVs as small as 1 kb, and small regions of homozygosity (ROHs), imprinting and position effects. Detailed analysis of these high-resolution data revealed CNVs and ROHs involving structural and functional domains, repeat elements, active transcription sites and regulatory regions. Integration of these genomic data with DNA methylation, histone modification and predicted RNA expression profiles in normal testes and ovaries suggested spatiotemporal and tissue-specific gene regulation. This study emphasized a DSD-specific and gene-targeted CMA approach that uncovered previously unanalyzed or unreported small genes and CNVs, contributing to the growing resources on small CNVs and facilitating the narrowing of the genomic gap for identifying candidate genes or regions. This high-resolution analysis tool could improve the diagnostic utility of CMA, not only in patients with DSD but also in other clinical populations. These integrated data provided a better genomic-epigenomic landscape of DSD and greater opportunities for downstream research. PMID:27340555

  5. Prevalence of Electrocardiographic Abnormalities in a Middle-Aged, Biracial Population: Coronary Artery Risk Development in Young Adults (CARDIA) Study

    PubMed Central

    Walsh, Joseph A; Prineas, Ronald; Daviglus, Martha L.; Ning, Hongyan; Liu, Kiang; Lewis, Cora E.; Sidney, Steven; Schreiner, Pamela J.; Iribarren, Carlos; Lloyd-Jones, Donald M.

    2013-01-01

    Background Few studies to date have described the prevalence of electrocardiographic (ECG) abnormalities in a biracial middle-aged cohort. Methods and Results Participants underwent measurement of traditional risk factors and 12-lead ECGs coded using both Minnesota Code (MC) and Novacode (NC) criteria. Among 2585 participants, of whom 57% were women and 44% were black (mean age 45 years), the prevalence of major and minor abnormalities were significantly higher (all P<0.001) among black men and women compared to whites. These differences were primarily due to higher QRS voltage and ST/T wave abnormalities among blacks. There was also a higher prevalence of Q waves (MC 1-1, 1-2, 1-3) than described by previous studies. These racial differences remained after multivariate adjustment for traditional cardiovascular (CV) risk factors. Conclusions Black men and women have a significantly higher prevalence of ECG abnormalities, independent of traditional CV risk factors, than whites in a contemporary cohort middle-aged participants. PMID:20374967

  6. Sex differences in the development of diabetes in mice with deleted wolframin (Wfs1) gene.

    PubMed

    Noormets, K; Kõks, S; Muldmaa, M; Mauring, L; Vasar, E; Tillmann, V

    2011-05-01

    Wolfram syndrome, caused by mutations in the wolframin (Wfs1) gene, is characterised by juvenile-onset diabetes mellitus, progressive optic atrophy, diabetes insipidus and deafness. Diabetes tend to start earlier in boys. This study investigated sex differences in longitudinal changes in blood glucose concentration (BGC) in wolframin-deficient mice (Wfs1KO) and compared their plasma proinsulin and insulin levels with those of wild-type (wt) mice. Non-fasting BGC was measured weekly in 42 (21 males) mice from both groups at nine weeks of age. An intraperitoneal glucose tolerance test (IPGTT) was conducted at the 30 (th) week and plasma insulin, c-peptide and proinsulin levels were measured at the 32 (nd) week. At the 32 (nd) week, Wfs1KO males had increased BGC compared to wt males (9.40±0.60 mmol/l vs. 7.91±0.20 mmol/l; p<0.05). The opposite tendency was seen in females. Both male and female Wfs1KO mice had impaired glucose tolerance on IPGTT. Wfs1KO males had significantly lower mean plasma insulin levels than wt males (57.78±1.80 ng/ml vs. 69.42±3.06 ng/ml; p<0.01) and Wfs1KO females (70.30±4.42 ng/ml; p<0.05). Wfs1KO males had a higher proinsulin/insulin ratio than wt males (0.09±0.02 vs. 0.05±0.01; p=0.05) and Wfs1KO females (0.04±0.01; p<0.05). Plasma c-peptide levels in males were lower in Wfs1KO males (mean 55.3±14.0 pg/ml vs. 112.7±21.9 pg/ml; p<0.05). Male Wfs1KO mice had a greater risk of developing diabetes than female Wfs1KO mice. Low plasma insulin concentration with an increased proinsulin/insulin ratio in Wfs1KO males indicates possible disturbances in converting proinsulin to insulin which in long-term may lead to insulin deficiency. Further investigation is needed to clarify the mechanism for the sex differences in the development of diabetes in Wolfram syndrome.

  7. Development of a Community-Based Sex Offender Treatment Programme for Adult Male Clients with a Learning Disability

    ERIC Educational Resources Information Center

    Garrett, Helen

    2006-01-01

    This article describes the development of a community-based sex offender treatment programme for learning disabled clients (CB-SOTP-LD), the Keep Safe Programme (KSP), by the Learning Disabilities Team of County Durham and Darlington Priority Services (CDDPS) NHS Trust. The aim of this paper, by the treatment lead, is to share experiences of…

  8. Development of a transgenic sexing system based on female-specific embryonic lethality in Ceratitis capitata (Diptera: Tephritidae)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The Sterile Insect Technique (SIT) is more efficient and cost-effective when only sterile males are released. A female-specific lethality system based on a female-specifically spliced intron was developed for transgenic sexing in Ceratitis capitata (Fu et al., 2007) possibly to overcome the fitness ...

  9. Development of a Sex Education Syllabus for Health Science at American River College. Emergence of Higher Education in America.

    ERIC Educational Resources Information Center

    Rasler, Michael L.

    This practicum paper discusses the development, evaluation, and revision of a student sex education syllabus at American River College (California). The syllabus is intended to provide an alternative learning format to the traditional lecture format. After a review of the literature, it was decided to use a fill-in or sentence completion format…

  10. Sex-biased miRNAs in gonad and their potential roles for testis development in yellow catfish.

    PubMed

    Jing, Jing; Wu, Junjie; Liu, Wei; Xiong, Shuting; Ma, Wenge; Zhang, Jin; Wang, Weimin; Gui, Jian-Fang; Mei, Jie

    2014-01-01

    Recently, YY super-male yellow catfish had been created by hormonal-induced sex reversal and sex-linked markers, which provides a promising research model for fish sex differentiation and gonad development, especially for testis development. MicroRNAs (miRNAs) have been revealed to play crucial roles in the gene regulation and gonad development in vertebrates. In this study, three small RNA libraries constructed from gonad tissues of XX female, XY male and YY super-male yellow catfish were sequenced. The sequencing data generated a total of 384 conserved miRNAs and 113 potential novel miRNAs, among which 23, 30 and 14 miRNAs were specifically detected in XX ovary, XY testis, and YY testis, respectively. We observed relative lower expression of several miR-200 family members, including miR-141 and miR-429 in YY testis compared with XY testis. Histological analysis indicated a higher degree of testis maturity in YY super-males compared with XY males, as shown by larger spermatogenic cyst, more spermatids and fewer spermatocytes in the spermatogenic cyst. Moreover, five miR-200 family members were significantly up-regulated in testis when treated by 17α-ethinylestradiol (EE2), high dose of which will impair testis development and cell proliferation. The down-regulation of miR-141 and 429 coincides with the progression of testis development in both yellow catfish and human. At last, the expression pattern of nine arbitrarily selected miRNAs detected by quantitative RT-PCR was consistent with the Solexa sequencing results. Our study provides a comprehensive miRNA transcriptome analysis for gonad of yellow catfish with different sex genotypes, and identifies a number of sex-biased miRNAs, some of that are potentially involved in testis development and spermatogenesis.

  11. Cognitive and Neuropsychological Test Performance of Persons with Abnormalities of Adolescent Development: A Test of Waber's Hypothesis.

    ERIC Educational Resources Information Center

    Rovet, Joanne

    1983-01-01

    A total of 20 children with idiopathic precocious puberty; 27 adolescents with clinically delayed puberty; and an equivalent number of controls matched for sex, age, and IQ were given a battery of tests including measures of verbal and spatial abilities and a task using a dichotic listening procedure to assess hemispheric lateralization.…

  12. Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations

    PubMed Central

    Knower, Kevin C.; Kelly, Sabine; Ludbrook, Louisa M.; Bagheri-Fam, Stefan; Sim, Helena; Bernard, Pascal; Sekido, Ryohei; Lovell-Badge, Robin; Harley, Vincent R.

    2011-01-01

    Background In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. In mice, Sox9 regulation is under the transcriptional control of SRY, SF1 and SOX9 via a conserved testis-specific enhancer of Sox9 (TES). Regulation of SOX9 in human sex determination is however poorly understood. Methodology/Principal Findings We show that a human embryonal carcinoma cell line (NT2/D1) can model events in presumptive Sertoli cells that initiate human sex determination. SRY associates with transcriptionally active chromatin in NT2/D1 cells and over-expression increases endogenous SOX9 expression. SRY and SF1 co-operate to activate the human SOX9 homologous TES (hTES), a process dependent on phosphorylated SF1. SOX9 also activates hTES, augmented by SF1, suggesting a mechanism for maintenance of SOX9 expression by auto-regulation. Analysis of mutant SRY, SF1 and SOX9 proteins encoded by thirteen separate 46,XY DSD gonadal dysgenesis individuals reveals a reduced ability to activate hTES. Conclusions/Significance We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription. PMID:21412441

  13. Sex difference in cell proliferation in developing rat amygdala mediated by endocannabinoids has implications for social behavior.

    PubMed

    Krebs-Kraft, Desiree L; Hill, Matthew N; Hillard, Cecilia J; McCarthy, Margaret M

    2010-11-23

    The amygdala is a sexually dimorphic brain region critical for the regulation of social, cognitive, and emotional behaviors, but both the nature and the source of sex differences in the amygdala are largely unknown. We have identified a unique sex difference in the developing rat medial amygdala (MeA) that is regulated by cannabinoids. Newborn females had higher rates of cell proliferation than males. Treatment of neonates with the cannabinoid receptor agonist, WIN 55,212-2 (WIN), reduced cell proliferation in females to that of males and a wide range of WIN doses had no effect on cell proliferation in males. The effect of WIN on cell proliferation in the MeA was prevented by coinfusions of a CB2 but not CB1 receptor antagonist. Females had higher amygdala content of the endocannabinoid degradation enzymes, fatty acid amid hydrolase, and monoacylglycerol lipase than males, and lower amounts of the endocannabinoids 2-arachidonoylglycerol and N-arachidonylethanolamide (anandamide). Inhibition of the degradation of 2-arachidonoylglycerol in females occluded the sex difference in cell proliferation. Analyses of cell fate revealed that females had significantly more newly generated glial cells but not more newly generated neurons than males, and treatment with WIN significantly decreased glial cell genesis in females but not males. Finally, early exposure to cannabinoids masculinized juvenile play behavior in females but did not alter this behavior in males. Collectively, our findings suggest that sex differences in endocannabinoids mediate a sex difference in glial cell genesis in the developing MeA that impacts sex-specific behaviors in adolescence.

  14. Evolution and development of sex differences in cooperative behavior in meerkats.

    PubMed

    Clutton-Brock, T H; Russell, A F; Sharpe, L L; Young, A J; Balmforth, Z; McIlrath, G M

    2002-07-12

    In cooperatively breeding birds, where helpers of both sexes assist with the provisioning and upbringing of offspring who are not their own, males tend to contribute more than females to rearing young. This sex difference has been attributed to paternity uncertainty, but could also occur because males contribute more where they are likely to remain and breed in their group of origin. In contrast to most birds, female meerkats (Suricata suricatta) are more likely to breed in their natal group than males. We show that female meerkat helpers contribute more to rearing young than males and that female helpers feed female pups more frequently than males. Our results suggest that sex differences in cooperative behavior are generated by sex differences in philopatry and occur because females derive greater direct benefits than males from raising recruits to their natal group. These findings support the view that direct, mutualistic benefits are important in the evolution of specialized cooperative behavior.

  15. Development of a Nondestructive Method for Sexing Live Adult Sternoplax souvorowiana (Coleoptera: Tenebrionidae)

    PubMed Central

    Wang, Yan; Ma, Ji; Mao, Xinfang

    2015-01-01

    The darkling beetle, Sternoplax souvorowiana (Reitter) (Coleoptera: Tenebrionidae), is flightless and lives in the Guerbantonggut desert in northwestern China. Its special eggshell structure, day-active habit, large body size, short life cycle, and ease of rearing under laboratory conditions make it an excellent model for advanced studies on desert adaptation. Determining the sex of this beetle is usually complicated by the lack of a discreet, externally visible gender-specific character. To date, dissection has been used for sex identification in this species, whereas a nondestructive means is needed for further studies of sexual dimorphism. Here, a new method based on the difference of the pigmentation pattern on the eighth tergite of each sex is described and illustrated. This method can be quickly learned, is nondestructive, is 100% accurate, and is fast enough for most applications in both the field and the laboratory. Experienced users in our laboratory routinely sex 8–10 beetles per minute. PMID:25934924

  16. Development of a nondestructive method for sexing live adult Sternoplax souvorowiana (Coleoptera: Tenebrionidae).

    PubMed

    Wang, Yan; Ma, Ji; Mao, Xinfang

    2015-01-01

    The darkling beetle, Sternoplax souvorowiana (Reitter) (Coleoptera: Tenebrionidae), is flightless and lives in the Guerbantonggut desert in northwestern China. Its special eggshell structure, day-active habit, large body size, short life cycle, and ease of rearing under laboratory conditions make it an excellent model for advanced studies on desert adaptation. Determining the sex of this beetle is usually complicated by the lack of a discreet, externally visible gender-specific character. To date, dissection has been used for sex identification in this species, whereas a nondestructive means is needed for further studies of sexual dimorphism. Here, a new method based on the difference of the pigmentation pattern on the eighth tergite of each sex is described and illustrated. This method can be quickly learned, is nondestructive, is 100% accurate, and is fast enough for most applications in both the field and the laboratory. Experienced users in our laboratory routinely sex 8-10 beetles per minute.

  17. Effects of Age and Sex on the Development of Personal Space Schemata Towards Body Build

    ERIC Educational Resources Information Center

    Lerner, Richard M.; And Others

    1975-01-01

    This study assessed personal space schemata of children towards stimulus figures representing male and female body build stereotypes. Greater spatial distances were used towards the Endomorph than other physique types and significant sex differences were found. (GO)

  18. Timing and nature of reconstructive surgery for disorders of sex development - introduction.

    PubMed

    Creighton, Sarah; Chernausek, Steven D; Romao, Rodrigo; Ransley, Philip; Salle, Joao Pippi

    2012-12-01

    The ideal timing and nature of surgical reconstruction in individuals with Disorders of Sex Development (DSD) is highly controversial. Despite the increasing number of publications on this topic, evidence-based recommendations still cannot be made. However it is generally accepted that optimal care for DSD requires an experienced multidisciplinary team. This means that surgical decisions are now made within the context of a multidisciplinary team and all members of the team - and not just specialist surgeons - may be called upon to discuss choices for surgery with patients and parents. To do this well, every clinician in the team should have an understanding of the range of techniques available for genital surgery, the risks and benefits of procedures and the controversies surrounding timing of surgery. The aim of this paper is to give an overview of the variety of surgical procedures in current use and in what situation a particular technique would be indicated. The short-term risks and benefits are described and where available long-term outcome data is discussed. To date, discussions surrounding genital surgery have been led primarily by surgeons. Some non-surgical clinicians have expressed unease about decision making in genital surgery but have felt ill equipped to comment on an area with which they are unfamiliar. This review gives a detailed explanation of current surgical practice offered in a specialized center for DSD and such information should facilitate a more balanced discussion.

  19. Promoting Shared Decision Making in Disorders of Sex Development (DSD): Decision Aids and Support Tools.

    PubMed

    Siminoff, L A; Sandberg, D E

    2015-05-01

    Specific complaints and grievances from adult patients with disorders of sex development (DSD), and their advocates center around the lack of information or misinformation they were given about their condition and feeling stigmatized and shamed by the secrecy surrounding their condition and its management. Many also attribute poor sexual function to damaging genital surgery and/or repeated, insensitive genital examinations. These reports suggest the need to reconsider the decision-making process for the treatment of children born with DSD. This paper proposes that shared decision making, an important concept in adult health care, be operationalized for the major decisions commonly encountered in DSD care and facilitated through the utilization of decision aids and support tools. This approach may help patients and their families make informed decisions that are better aligned with their personal values and goals. It may also lead to greater confidence in decision making with greater satisfaction and less regret. A brief review of the past and current approach to DSD decision making is provided, along with a review of shared decision making and decision aids and support tools. A case study explores the need and potential utility of this suggested new approach.

  20. The Investigation of Quality of Life in 87 Chinese Patients with Disorders of Sex Development

    PubMed Central

    Wang, Chunqing; Tian, Qinjie

    2015-01-01

    Objective. In the process of care for disorders of sex development (DSD), clinical decisions should focus on the long-term quality of life (QOL). We sought to investigate the QOL of patients with DSD in China. Design. Case-control study was carried out. Patients. 90 patients of DSD participated in the study. Finally, 87 patients were analyzed including Turner's syndrome (23), Noonan syndrome (2), androgen insensitivity syndrome (22), testicular regression syndrome (2), congenital adrenal hyperplasia (16), and pure gonadal dysgenesis (22). Measurements. The WHOQOL-BREF questionnaire was chosen for the present investigation. Four domain scores were analyzed independently including physical, psychological, and social relationship and environmental domains. Results. The average age of the DSD group is 22.34 ± 4.97 years, and only 13.79% patients ever had sexual life. The scores of psychological and environmental domains were lower than that of the physical and social relationship domains, but the difference was not significant (P > 0.05). Compared with the Chinese urban population, the QOL scores of DSD patients in China were not significantly lower. Conclusions. With proper treatment, including the follow-up and psychological support, the QOL of DSD patients cannot be significantly reduced. For DSD patients, more attention should be paid to the potential psychological and sexual problems. PMID:26075230

  1. Effects of vertebrate hormones on development and sex determination in Daphnia magna.

    PubMed

    Kashian, Donna R; Dodson, Stanley I

    2004-05-01

    Daphnia (Crustacea) are extensively used as model organisms in ecotoxicology; however, little is known regarding their endocrine system. This study examines Daphnia vulnerability to vertebrate hormones. Twelve natural or synthetic vertebrate hormones were screened for activity on developmental and reproductive processes in Daphnia magna. Natural hormones tested included: beta-estradiol, gonadotropin, hydrocortisone, insulin, melatonin, progesterone, somatostatin, testosterone, and thyroxine at concentrations ranging from 1 to 100 microg/L. Synthetic hormones tested included diethylstilbestrol (estrogenic), R-1881 (androgen), and ICI-182,780 (antiestrogen); all hormones were screened with a 6-d assay. Additionally, progesterone, insulin, testosterone, and thyroxine were screened for 25 d. Diethylstilbestrol decreased D. magna growth rate while thyroxine increased it. Short-term testosterone exposure reduced D. magna fecundity; however, long-term exposure did not, potentially indicating testosterone hydroxylation with long-term exposure. Hormones commonly considered sex-hormones (estrogens and androgens) in vertebrates do not appear to control sexual differentiation in D. magna; however, several vertebrate hormones do affect reproduction and development in D. magna making D. magna a potentially useful tool in monitoring for the presence of these hormones or compounds that mimic them.

  2. Phalloplasty: A panacea for 46,XY disorder of sex development conditions with penile deficiency?

    PubMed

    Callens, Nina; Hoebeke, Piet

    2014-01-01

    In cases of severe penile inadequacy, such as in pathological conditions involving penile amputation (e.g. penile cancer), or in 46,XY disorders of sex development with severe undervirilization or maldevelopment of the penis (e.g. idiopathic micropenis, cloacal exstrophy), standard (surgical) penile lengthening techniques do not provide patients with a phallus suitable for sexual intercourse. Genital dissatisfaction can lead to low self-esteem and psychosexual dysfunction. Therefore, phalloplasty, the gold standard in transgender surgery, may provide a possibility to achieve a satisfactory genital appearance and sexual function. Small series have reported cosmetically acceptable and erogenous sensate neophalli with incorporation of a neourethra to allow voiding in a standing position and with enough bulk to allow penile prosthesis insertion for pleasurable intercourse. Although early results seem promising, further publication of series with large numbers and longer follow-up is needed to evaluate to what extent phalloplasty improves physical and sexual outcomes. Complications are of particular concern because of associated scarring and loss of sensitive tissue. Without full preoperative workups assessing patients' expectations and reasons for undergoing surgery, they may still struggle with self/penile image and with psychological barriers for engaging in sexual activity. Recommendations for the psychosocial management of boys and men with penile deficiency are suggested.

  3. Gender Issues and Related Social Stigma Affecting Patients with a Disorder of Sex Development in India.

    PubMed

    Joseph, Angela Ann; Kulshreshtha, Bindu; Shabir, Iram; Marumudi, Eunice; George, Tony Sam; Sagar, Rajesh; Mehta, Manju; Ammini, Ariachery C

    2017-02-01

    Children with disorders of sex development (DSD) manifest at birth with malformed genitalia or later with atypical pubertal development. Those born with malformed genitalia are often diagnosed at birth. However, in resource-poor countries like India, where not all births are supervised by healthcare workers, some of these children remain undiagnosed until puberty or even later. The aim of this study was to assess the gender issues and psychosocial problems of children with DSD. Participants included 205 children with DSD (103 with 46,XX DSD and 102 with 46,XY DSD). Both the children with DSD and their parents underwent semistructured interviews by a clinical psychologist. The birth of a child with DSD was perceived as a major medical and social problem by parents from all socioeconomic strata. Mothers were distressed as many believed the DSD condition was transmitted through the mother. Children who were not diagnosed and treated during infancy or early childhood experienced considerable social discrimination not only from relatives and friends but also from medical and paramedical staff in hospitals. Several patients had been operated during infancy without an etiological diagnosis and without provision of adequate information to the parents. Some children had problems related to complications of surgery. Most teenage patients with 5α-reductase-2 deficiency reared as females presented with gender dysphoria, while children with androgen insensitivity (except for one) or with gonadal dysgenesis developed a gender identity concordant with their gender of rearing. Parents of children with DSD preferred a male gender assignment for their children (if that was possible) because of the social advantages of growing up male in a patriarchal society.

  4. Estrogen receptor-alpha gene expression in the cortex: sex differences during development and in adulthood.

    PubMed

    Wilson, Melinda E; Westberry, Jenne M; Trout, Amanda L

    2011-03-01

    17β-estradiol is a hormone with far-reaching organizational, activational and protective actions in both male and female brains. The organizational effects of early estrogen exposure are essential for long-lasting behavioral and cognitive functions. Estradiol mediates many of its effects through the intracellular receptors, estrogen receptor-alpha (ERα) and estrogen receptor-beta (ERβ). In the rodent cerebral cortex, estrogen receptor expression is high early in postnatal life and declines dramatically as the animal approaches puberty. This decline is accompanied by decreased expression of ERα mRNA. This change in expression is the same in both males and females in the developing isocortex and hippocampus. An understanding of the molecular mechanisms involved in the regulation of estrogen receptor alpha (ERα) gene expression is critical for understanding the developmental, as well as changes in postpubertal expression of the estrogen receptor. One mechanism of suppressing gene expression is by the epigenetic modification of the promoter regions by DNA methylation that results in gene silencing. The decrease in ERα mRNA expression during development is accompanied by an increase in promoter methylation. Another example of regulation of ERα gene expression in the adult cortex is the changes that occur following neuronal injury. Many animal studies have demonstrated that the endogenous estrogen, 17β-estradiol, is neuroprotective. Specifically, low levels of estradiol protect the cortex from neuronal death following middle cerebral artery occlusion (MCAO). In females, this protection is mediated through an ERα-dependent mechanism. ERα expression is rapidly increased following MCAO in females, but not in males. This increase is accompanied by a decrease in methylation of the promoter suggesting a return to the developmental program of gene expression within neurons. Taken together, during development and in adulthood, regulation of ERα gene expression in the

  5. Pregnancy Distress Gets Under Fetal Skin: Maternal Ambulatory Assessment & Sex Differences in Prenatal Development

    PubMed Central

    Doyle, Colleen; Werner, Elizabeth; Feng, Tianshu; Lee, Seonjoo; Altemus, Margaret; Isler, Joseph R.

    2015-01-01

    Prenatal maternal distress is associated with an at-risk developmental profile, yet there is little fetal evidence of this putative in utero process. Moreover, the biological transmission for these maternal effects remains uncertain. In a study of n = 125 pregnant adolescents (ages 14–19), ambulatory assessments of daily negative mood (anger, frustration, irritation, stress), physical activity, blood pressure, heart rate (every 30 min over 24 hr), and salivary cortisol (six samples) were collected at 13–16, 24–27, 34–37 gestational weeks. Corticotropin-releasing hormone, C-reactive protein, and interleukin 6 from blood draws and 20 min assessments of fetal heart rate (FHR) and movement were acquired at the latter two sessions. On average, fetuses showed development in the expected direction (decrease in FHR, increase in SD of FHR and in the correlation of movement and FHR (“coupling”)). Maternal distress characteristics were associated with variations in the level and trajectory of fetal measures, and results often differed by sex. For males, greater maternal 1st and 2nd session negative mood and 2nd session physical activity were associated with lower overall FHR (p <.01), while 1st session cortisol was associated with a smaller increase in coupling (p <.01), and overall higher levels (p = .05)—findings suggesting accelerated development. For females, negative mood, cortisol, and diastolic blood pressure were associated with indications of relatively less advanced and accelerated outcomes. There were no associations between negative mood and biological variables. These data indicate that maternal psychobiological status influences fetal development, with females possibly more variously responsive to different exposures. PMID:25945698

  6. GATA-4 is required for sex steroidogenic cell development in the fetal mouse

    PubMed Central

    Bielinska, Malgorzata; Seehra, Amrita; Toppari, Jorma; Heikinheimo, Markku; Wilson, David B.

    2007-01-01

    The transcription factor GATA-4 is expressed in Sertoli cells, steroidogenic Leydig cells, and other testicular somatic cells. Previous studies have established that interaction between GATA-4 and its cofactor FOG-2 is necessary for proper Sry expression and all subsequent steps in testicular organogenesis, including testis cord formation and differentiation of both Sertoli and fetal Leydig cells. Since fetal Leydig cell differentiation depends on Sertoli cell-derived factors, it has remained unclear whether GATA-4 has cell autonomous role in Leydig cell development. We used two experimental systems to explore the role of GATA-4 in the ontogeny of testicular steroidogenic cells. First, chimeric mice were generated by injection of Gata4−/− ES cells into Rosa26 blastocysts. Analysis of the resultant chimeras showed that in developing testis Gata4−/− cells can contribute to fetal germ cells and interstitial fibroblasts but not fetal Leydig cells. Second, wild-type or Gata4−/− ES cells were injected into the flanks of intact or gonadectomized nude mice and the resultant teratomas examined for expression of steroidogenic markers. Wild-type but not Gata4−/− ES cells were capable of differentiating into gonadal-type steroidogenic lineages in teratomas grown in gonadectomized mice. In chimeric teratomas derived from mixtures of GFP-tagged Gata4+/+ ES cells and unlabeled Gata4−/− ES cells, sex steroidogenic cell differentiation was restricted to GFP-expressing cells. Collectively these data suggest that GATA-4 plays an integral role in the development of testicular steroidogenic cells. PMID:17096405

  7. SEX-SPECIFIC ENVIRONMENTAL INFLUENCES ON THE DEVELOPMENT OF AUTOIMMUNE DISEASES

    PubMed Central

    Tiniakou, Eleni; Costenbader, Karen H.; Kriegel, Martin A.

    2013-01-01

    Sex differences in autoimmune diseases are evolutionarily tied to the fact that the female immune system is confronted with intense alterations during menstrual cycles, pregnancy and childbirth. These events may be associated with breaches in the mucosal epithelial layers that are shielding us from environmental factors. Associations between environmental agents and autoimmune diseases have been described extensively in prior studies. Little evidence, however, exists for sex-specific environmental effects on autoimmune diseases. In this review, we summarize studies involving this often-neglected aspect. We give examples of environmental factors that may influence the sex bias in autoimmunity. We conclude that most studies do not give insight into sex-specific environmental effects due to the influence of gender-selective social, occupational or other exposures. Prospective studies are needed in order to determine true sex-biased environmental influences. Finally, humanized murine models might aid in better understanding the mechanisms involved in sex-specific environmental effects on autoimmune diseases. PMID:23507400

  8. Development of molecular method for sex identification in date palm (Phoenix dactylifera L.) plantlets using novel sex-linked microsatellite markers.

    PubMed

    Maryam; Jaskani, Muhammad Jafar; Awan, Faisal Saeed; Ahmad, Saeed; Khan, Iqrar A

    2016-06-01

    Microsatellite markers containing simple sequence repeats (SSRs) are a valuable tool for genetic analysis. Date palm is a dioecious and slow flowering and is very difficult to identify the gender of the trees until it reaches the reproductive age (5-10 years). A total of 12 microsatellite primers were used with 30 date palm samples, 14 parents (8 male + 6 females) and 16 progeny (developed from parents breeding) which showed that microsatellites were highly polymorphic, having a great number of alleles. A total of 124 alleles were characterized in 12 SSR loci. On average, there are 9.08 alleles per locus, with a range from 5 to 16 alleles, for primers mpdCIR15 and mpdCIR57, respectively. These primers produced 15 polymorphic loci specifically in male date palm samples and the seedlings harboring the unique fragments were further characterized as male plants. Increasingly, 38.46 % of these loci were scored as homozygous alleles while 61.53 % heterozygous allelic loci were determined. Primer mpdCIR48 produced a specific locus (250/250) in all male samples whereas the same locus was absent in female samples. Similarly, a locus of 300/310 bp reoccurred in 5 date palm male samples using marker DP-168 which indicated that these are the promising candidate marker to detect the sex in date palm seedlings at early stage. The data resulted from combination of 12 primers enabled the 16 seedling samples progeny (developed from parents breeding) of date palm cultivars to divide into two groups i.e., male and female regarding their sex expression comparative to the parents (male + female) using the principle coordinate analysis.

  9. Developing a multidisciplinary team for disorders of sex development: planning, implementation, and operation tools for care providers.

    PubMed

    Moran, Mary Elizabeth; Karkazis, Katrina

    2012-01-01

    In the treatment of patients with disorders of sex development (DSD), multidisciplinary teams (MDTs) represent a new standard of care. While DSDs are too complex for care to be delivered effectively without specialized team management, these conditions are often considered to be too rare for their medical management to be a hospital priority. Many specialists involved in DSD care want to create a clinic or team, but there is no available guidance that bridges the gap between a group of like-minded DSD providers who want to improve care and the formation of a functional MDT. This is an important dilemma, and one with serious implications for the future of DSD care. If a network of multidisciplinary DSD teams is to be a reality, those directly involved in DSD care must be given the necessary program planning and team implementation tools. This paper offers a protocol and set of tools to meet this need. We present a 6-step process to team formation, and a sample set of tools that can be used to guide, develop, and evaluate a team throughout the course of its operation.

  10. Developing a Multidisciplinary Team for Disorders of Sex Development: Planning, Implementation, and Operation Tools for Care Providers

    PubMed Central

    Moran, Mary Elizabeth; Karkazis, Katrina

    2012-01-01

    In the treatment of patients with disorders of sex development (DSD), multidisciplinary teams (MDTs) represent a new standard of care. While DSDs are too complex for care to be delivered effectively without specialized team management, these conditions are often considered to be too rare for their medical management to be a hospital priority. Many specialists involved in DSD care want to create a clinic or team, but there is no available guidance that bridges the gap between a group of like-minded DSD providers who want to improve care and the formation of a functional MDT. This is an important dilemma, and one with serious implications for the future of DSD care. If a network of multidisciplinary DSD teams is to be a reality, those directly involved in DSD care must be given the necessary program planning and team implementation tools. This paper offers a protocol and set of tools to meet this need. We present a 6-step process to team formation, and a sample set of tools that can be used to guide, develop, and evaluate a team throughout the course of its operation. PMID:22792098

  11. A Progress Report: The Relationship Between Mother-Infant Interaction and Sensory-Motor Development According to Age, Sex and Social Class Background.

    ERIC Educational Resources Information Center

    Curcio, Frank; And Others

    This paper describes the purposes and procedures of a longitudinal study designed to: (1) relate mother-infant interaction patterns to infant age, sex, and social class; (2) relate mother-infant interaction patterns to infant sensory-motor development; and (3) to examine the relationship between infant sensory-motor development and infant sex and…

  12. Regulation of gonadal sex ratios and pubertal development by the thyroid endocrine system in zebrafish (Danio rerio)

    USGS Publications Warehouse

    Sharma, Prakash; Patino, Reynaldo

    2013-01-01

    We examined associations between thyroid condition, gonadal sex and pubertal development in zebrafish. Seventy-two-hour postfertilization larvae were reared in untreated medium or in the presence of goitrogens (sodium perchlorate, 0.82 mM; methimazole, 0.15 and 0.3 mM) or thyroxine (1 and 10 nM) for 30 days. Thyrocyte height, gonadal sex and gonadal development were histologically determined at 45 and 60 days postfertilization (dpf). Thyrocyte hypertrophy, an index of hypothyroidism, was observed at 45 and 60 dpf in perchlorate-treated but only at 45 dpf in methimazole-treated fish. Similarly, gonadal sex ratios were biased toward ovaries relative to control animals at 45 and 60 dpf in perchlorate-treated fish but only at 45 dpf in methimazole-treated fish. Gonadal sex ratios were biased toward testes at 45 and 60 dpf in thyroxine-treated fish. Spermatogenesis was delayed in testes from goitrogen-treated fish at 60 dpf relative to control values, but was unaffected in testes from thyroxine-treated individuals. Oogenesis seemed to be nonspecifically delayed in all treatments relative to control at 60 dpf. This study confirmed the previously reported association between hypothyroid condition and ovarian-skewed ratios, and hyperthyroid condition and testicular-skewed ratios, and also showed that male pubertal development is specifically delayed by experimental hypothyroidism. The simultaneous recovery from the hypothyroid and ovary-inducing effects of methimazole by 60 dpf (27 days post-treatment) suggests that the ovary-skewing effect of goitrogens is reversible when thyroid conditions return to basal levels before developmental commitment of gonadal sex. Conversely, the masculinizing effect of hyperthyroidism seems to be stable and perhaps permanent.

  13. Regulation of gonadal sex ratios and pubertal development by the thyroid endocrine system in zebrafish (Danio rerio).

    PubMed

    Sharma, Prakash; Patiño, Reynaldo

    2013-04-01

    We examined associations between thyroid condition, gonadal sex and pubertal development in zebrafish. Seventy-two-hour postfertilization larvae were reared in untreated medium or in the presence of goitrogens (sodium perchlorate, 0.82 mM; methimazole, 0.15 and 0.3 mM) or thyroxine (1 and 10 nM) for 30 days. Thyrocyte height, gonadal sex and gonadal development were histologically determined at 45 and 60 days postfertilization (dpf). Thyrocyte hypertrophy, an index of hypothyroidism, was observed at 45 and 60 dpf in perchlorate-treated but only at 45 dpf in methimazole-treated fish. Similarly, gonadal sex ratios were biased toward ovaries relative to control animals at 45 and 60 dpf in perchlorate-treated fish but only at 45 dpf in methimazole-treated fish. Gonadal sex ratios were biased toward testes at 45 and 60 dpf in thyroxine-treated fish. Spermatogenesis was delayed in testes from goitrogen-treated fish at 60 dpf relative to control values, but was unaffected in testes from thyroxine-treated individuals. Oogenesis seemed to be nonspecifically delayed in all treatments relative to control at 60 dpf. This study confirmed the previously reported association between hypothyroid condition and ovarian-skewed ratios, and hyperthyroid condition and testicular-skewed ratios, and also showed that male pubertal development is specifically delayed by experimental hypothyroidism. The simultaneous recovery from the hypothyroid and ovary-inducing effects of methimazole by 60 dpf (27 days post-treatment) suggests that the ovary-skewing effect of goitrogens is reversible when thyroid conditions return to basal levels before developmental commitment of gonadal sex. Conversely, the masculinizing effect of hyperthyroidism seems to be stable and perhaps permanent.

  14. Relationship between DNA damage in sperm after ex vivo exposure and abnormal embryo development in the progeny of the three-spined stickleback.

    PubMed

    Santos, R; Palos-Ladeiro, M; Besnard, A; Porcher, J M; Bony, S; Sanchez, W; Devaux, A

    2013-04-01

    Many xenobiotics released in the aquatic environment exhibit a genotoxic potential toward organisms. Long term exposure to such compounds is expected to lead to multigenerational reproductive defects, further influencing the recruitment rate and hence, the population dynamics. Paternal exposure to genotoxicants was previously shown to increase abnormal development in the progeny of mammalian or aquatic species. The aim of this study was to evaluate the relationship between DNA damage in sperm of the fish three-spined stickleback and progeny developmental defects. Spermatozoa were exposed ex vivo to an alkylating agent (methyl methanesulfonate) before in vitro fertilization and DNA damage was assessed by the alkaline comet assay. A significant relationship between abnormal development and sperm DNA damage was underlined. This study illustrates the interest to use germ cell DNA damage after ex vivo exposure to evaluate the impact of genotoxic compounds on progeny fitness in aquatic organisms.

  15. Androgen and the development of human sex-typical behavior: rough-and-tumble play and sex of preferred playmates in children with congenital adrenal hyperplasia (CAH).

    PubMed

    Hines, M; Kaufman, F R

    1994-08-01

    We hypothesized that girls with congenital adrenal hyperplasia (CAH), who experience higher than normal levels of androgens prenatally, would show masculinization of behaviors that show sex differences. Therefore, we examined rough-and-tumble play and sex of preferred playmates in 3-8-year-old children with CAH and in unaffected 3-8-year-old male and female relatives. The hypothesized sex differences in rough-and-tumble play were seen, with unaffected boys showing more rough-and-tumble play than unaffected girls. However, CAH girls were similar to unaffected girls. Additionally, CAH boys showed reduced rough-and-tumble play. In contrast, sex of preferred playmates showed the hypothesized pattern of results. There were sex differences, with unaffected boys preferring boys and unaffected girls preferring girls. In addition, the preferences of girls with CAH were masculinized compared to those of unaffected girls. Results are discussed in terms of possible influences of social, hormonal, and illness factors.

  16. Using sex differences in the developing brain to identify nodes of influence for seizure susceptibility and epileptogenesis

    PubMed Central

    Kight, Katherine E.; McCarthy, Margaret M.

    2017-01-01

    Sexual differentiation of the developing brain organizes the neural architecture differently between males and females, and the main influence on this process is exposure to gonadal steroids during sensitive periods of prenatal and early postnatal development. Many molecular and cellular processes are influenced by steroid hormones in the developing brain, including gene expression, cell birth and death, neurite outgrowth and synaptogenesis, and synaptic activity. Perturbations in these processes can alter neuronal excitability and circuit activity, leading to increased seizure susceptibility and the promotion of pathological processes that constitute epileptogenesis. In this review, we will provide a general overview of sex differences in the early developing brain that may be relevant for altered seizure susceptibility in early life, focusing on limbic areas of the brain. Sex differences that have the potential to alter the progress of epileptogenesis are evident at molecular and cellular levels in the developing brain, and include differences in neuronal excitability, response to environmental insult, and epigenetic control of gene expression. Knowing how these processes differ between the sexes can help us understand fundamental mechanisms underlying gender differences in seizure susceptibility and epileptogenesis. PMID:24892888

  17. Development of a PubMed Based Search Tool for Identifying Sex and Gender Specific Health Literature

    PubMed Central

    Song, Michael M.; Simonsen, Cheryl K.; Wilson, Joanna D.

    2016-01-01

    Abstract Background: An effective literature search strategy is critical to achieving the aims of Sex and Gender Specific Health (SGSH): to understand sex and gender differences through research and to effectively incorporate the new knowledge into the clinical decision making process to benefit both male and female patients. The goal of this project was to develop and validate an SGSH literature search tool that is readily and freely available to clinical researchers and practitioners. Methods: PubMed, a freely available search engine for the Medline database, was selected as the platform to build the SGSH literature search tool. Combinations of Medical Subject Heading terms, text words, and title words were evaluated for optimal specificity and sensitivity. The search tool was then validated against reference bases compiled for two disease states, diabetes and stroke. Results: Key sex and gender terms and limits were bundled to create a search tool to facilitate PubMed SGSH literature searches. During validation, the search tool retrieved 50 of 94 (53.2%) stroke and 62 of 95 (65.3%) diabetes reference articles selected for validation. A general keyword search of stroke or diabetes combined with sex difference retrieved 33 of 94 (35.1%) stroke and 22 of 95 (23.2%) diabetes reference base articles, with lower sensitivity and specificity for SGSH content. Conclusions: The Texas Tech University Health Sciences Center SGSH PubMed Search Tool provides higher sensitivity and specificity to sex and gender specific health literature. The tool will facilitate research, clinical decision-making, and guideline development relevant to SGSH. PMID:26555409

  18. Robust algorithmic detection of the developed cardiac pathologies and emerging or transient abnormalities from short periods of RR data

    NASA Astrophysics Data System (ADS)

    Gavrishchaka, Valeriy V.; Senyukova, Olga

    2011-06-01

    Numerous research efforts and clinical testing have confirmed validity of heart rate variability (HRV) analysis as one of the cardiac diagnostics modalities. The majority of HRV analysis tools currently used in practice are based on linear indicators. Methods from nonlinear dynamics (NLD) provide more natural modeling framework for adaptive biological systems with multiple feedback loops. Compared to linear indicators, many NLD-based measures are much less sensitive to data artifacts and non-stationarity. However, majority of NLD measures require long time series for stable calculation. Similar restrictions also apply for linear indicators. Such requirements could drastically limit practical usability of HRV analysis in many applications, including express diagnostics, early indication of subtle directional changes during personalization of medical treatment, and robust detection of emerging or transient abnormalities. Recently we have illustrated that these challenges could be overcome by using classification framework based on boosting-like ensemble learning techniques that are capable of discovering robust meta-indicators from existing HRV measures and other incomplete empirical knowledge. In this paper we demonstrate universality of such meta-indicators and discuss operational details of their practical usage. Using such pathology examples as congestive heart failure (CHF) and arrhythmias, we show that classifiers trained on short RR segments (down to several minutes) could achieve reasonable classification accuracy (˜80-85% and higher). These indicators calculated from longer RR segments could be applicable for accurate diagnostics with classification accuracy approaching 100%. In addition, it is feasible to discover single "normal-abnormal" meta-classifier capable of detecting multiple abnormalities.

  19. Form of athletic exercise, school environment, and sex in development of high school students' sportsmanship.

    PubMed

    Proios, Miltiadis; Doganis, George; Proios, Michalis

    2006-08-01

    To examine the influence of form of athletic exercise, school environment, and sex in the sportsmanship of high school students, 158 boys and 197 girls, ages 15 to 18 years (M = 16.0, SD = .7) in physical education at school, recreational sports, and competitive sports at three schools were examined. Analysis of students' responses on the Multidimensional Sportspersonship Orientation Scale indicated the form of athletic exercise, the school environment, and sex were related to their sportsmanship. These factors should be considered in planning programs on moral education.

  20. Intestinal development of bovine foetuses during gestation is affected by foetal sex and maternal nutrition.

    PubMed

    Gionbelli, T R S; Rotta, P P; Veloso, C M; Valadares Filho, S C; Carvalho, B C; Marcondes, M I; Ferreira, M F L; Souza, J V F; Santos, J S A A; Lacerda, L C; Duarte, M S; Gionbelli, M P

    2016-08-03

    We aimed to evaluate the effects of maternal nutrition (MN) and foetal sex on the intestinal development of bovine foetuses throughout different days of gestation (DG). Forty-four multiparous, dry Holstein × Gyr cows with average initial body weight of 480 ± 10 kg were fed the same diet of either restricted feeding at 1.15% of body weight (CO, n = 24) or fed ad libitum (overnourished, ON, n = 20). Six cows from CO group and five cows from ON group were slaughtered at 139, 199, 241 and 268 DG, and foetuses were necropsied to evaluate the intestinal development. The mass, length and density of foetal intestines were not affected by MN (p ≥ 0.260). An interaction between MN and DG was observed for the villi length of jejunum (p = 0.006) and ileum (p < 0.001). Villi length of jejunum and ileum was higher (p < 0.10) in foetuses from ON-fed cows than in foetuses from CO-fed cows at 139 DG. However, at 199 DG, the villi length of jejunum and ileum of foetuses from CO-fed cows was higher than in foetuses from ON-fed cows. Despite these differences, MN did not affect the villi length of jejunum and ileum at 268 DG (p > 0.10). Female foetuses had greater small intestine mass (p = 0.093), large intestine mass (p = 0.022), small intestine mass in proportion to body mass (p = 0.017) and large intestine mass in proportion to body mass (p < 0.001) than male foetuses. Female foetuses had also longer small intestine (p = 0.077) and greater small intestine density (p = 0.021) and villi length of jejunum (p = 0.001) and ileum (p = 0.010) than males. We conclude that MN affects the pathway for the development of foetal villi length throughout the gestation in bovine foetuses without changing the final villi length. Female foetuses had higher intestinal mass, density and villi length than males during the foetal phase in bovines.

  1. Stress and the Development of Cognitive Vulnerabilities to Depression Explain Sex Differences in Depressive Symptoms during Adolescence

    PubMed Central

    Hamilton, Jessica L.; Stange, Jonathan P.; Abramson, Lyn Y.; Alloy, Lauren B.

    2014-01-01

    Although cognitive vulnerabilities to depression have received considerable empirical support, little research has evaluated the differential development of cognitive vulnerabilities in adolescent girls and boys. The current study examined the role of stressful life events, as well as sex differences in reactivity and exposure to stress, in the development of negative cognitive style and rumination in a multi-wave study of 382 adolescents. Path analyses indicated that interpersonal dependent stress predicted higher prospective levels of negative cognitive styles and rumination. Additionally, girls’ greater exposure to interpersonal dependent stress explained their higher levels of rumination, which accounted for girls’ higher levels of depressive symptoms than boys. These findings suggest that interpersonal dependent stress is a significant risk factor for the formation of cognitive vulnerabilities to depression during adolescence, and that the sex difference in depressive symptoms may result from girls’ greater exposure to interpersonal dependent stress and ruminative response style than boys. PMID:26509106

  2. Sex Differential Item Functioning in the Inventory of Early Development III Social-Emotional Skills

    ERIC Educational Resources Information Center

    Beaver, Jessica L.; French, Brian F.; Finch, W. Holmes; Ullrich-French, Sarah C.

    2014-01-01

    Social-emotional (SE) skills in the early developmental years of children influence outcomes in psychological, behavioral, and learning domains. The adult ratings of a child's SE skills can be influenced by sex stereotypes. These rating differences could lead to differential conclusions about developmental progress or risk. To ensure that…

  3. Reimagining Gender through Policy Development: The Case of a "Single-Sex" Educational Organisation

    ERIC Educational Resources Information Center

    Douthirt Cohen, Beth

    2012-01-01

    In 2005, a feminist educational organisation in the USA for young women, ages 14-21, adopted a policy in order to clarify their target constituency of girls and young women. The policy defined "girls and young women" not as a designation associated with fixed biological sex, but instead as a self-determined identity label creating an explicit…

  4. Developing and Testing a Sex Education Program for the Female Clients of Health Centers in Iran

    ERIC Educational Resources Information Center

    Shirpak, Khosro Refaie; Ardebili, Hassan Eftekhar; Mohammad, Kazem; Maticka-Tyndale, Eleanor; Chinichian, Maryam; Ramenzankhani, Ali; Fotouhi, Akbar

    2007-01-01

    In this study a matched intervention-control site design in 14 urban health centers with random selection of 160 participants (80 in each of intervention and control) was used to evaluate a sex education program in Iran. Qualitative methods were used in a needs assessment that also set the content and method of delivery of the program. The…

  5. Development of Vermont assessment of sex offender risk-2 (VASOR-2) reoffense risk scale.

    PubMed

    McGrath, Robert J; Lasher, Michael P; Cumming, Georgia F; Langton, Calvin M; Hoke, Stephen E

    2014-06-01

    The present study aimed to revise the Vermont Assessment of Sex Offender Risk (VASOR) Reoffense Risk Scale, a commonly used sex offender risk assessment tool. The revised tool was named the VASOR-2. Among models tested to revise the scale, a logistic regression model showed the best balance between simplicity of use, goodness of fit, and internal validity (as tested with K-10 cross-validation), and maximized predictive accuracy. Predictive accuracy was tested using four meta-analytically combined data sets drawn from Canada and Vermont (N = 1,581). At 5-year fixed follow-up, the predictive accuracy for sexual recidivism for VASOR-2 (AUC = .74) was similar to the VASOR (AUC = .71). The findings show the VASOR-2 is well calibrated with observed recidivism rates for all but the highest risk sex offenders. The instrument showed good interrater reliability (ICC = .88). An advantage of the VASOR-2 is that it has fewer items and simpler scoring instructions than the VASOR. Norms are presented for a contemporary, nonselected, routine sample of Vermont sex offenders (n = 887).

  6. The Impact of Sex-Role Stereotyping on Human Development. Monograph, Volume 3, Number 1.

    ERIC Educational Resources Information Center

    O'Reilly, Patricia

    A stereotype is a standardized mental picture based on a common characteristic of a group of people, representing an oversimplified opinion or an uncritical judgment that is not reality-based. In order to understand the psychological basis of sex-role stereotyping it must be understood that the stereotype of men as strong, independent, and in…

  7. Responses to "Neutral" Pronoun Presentations and the Development of Sex-Biased Responding.

    ERIC Educational Resources Information Center

    Fisk, William R.

    1985-01-01

    Examined whether kindergarten and first-grade children give sex-biased responses if reinforced and/or triggered by language, specifically pronouns, that they hear. Results supported the pronomial dominance theory of pronoun functioning for young children. Results also suggest that boys but not girls use a self-imaging response to neutral…

  8. Thoughts on the nature of identity: how disorders of sex development inform clinical research about gender identity disorders.

    PubMed

    Reiner, William G; Reiner, D Townsend

    2012-01-01

    Disorders of sex development (DSD), like gender dysphoria, are conditions with major effects on child sexuality and identity, as well as sexual orientation. Each may in some cases lead to change of gender from that assigned neonatally. These similarities-and the conditions' differences-provide a context for reviewing the articles in this issue about clinical approaches to children with gender dysphoria, in relation to assessment, intervention, and ethics.

  9. Developing Software to “Track and Catch” Missed Follow-up of Abnormal Test Results in a Complex Sociotechnical Environment

    PubMed Central

    Smith, M.; Murphy, D.; Laxmisan, A.; Sittig, D.; Reis, B.; Esquivel, A.; Singh, H.

    2013-01-01

    Summary Background Abnormal test results do not always receive timely follow-up, even when providers are notified through electronic health record (EHR)-based alerts. High workload, alert fatigue, and other demands on attention disrupt a provider’s prospective memory for tasks required to initiate follow-up. Thus, EHR-based tracking and reminding functionalities are needed to improve follow-up. Objectives The purpose of this study was to develop a decision-support software prototype enabling individual and system-wide tracking of abnormal test result alerts lacking follow-up, and to conduct formative evaluations, including usability testing. Methods We developed a working prototype software system, the Alert Watch And Response Engine (AWARE), to detect abnormal test result alerts lacking documented follow-up, and to present context-specific reminders to providers. Development and testing took place within the VA’s EHR and focused on four cancer-related abnormal test results. Design concepts emphasized mitigating the effects of high workload and alert fatigue while being minimally intrusive. We conducted a multifaceted formative evaluation of the software, addressing fit within the larger socio-technical system. Evaluations included usability testing with the prototype and interview questions about organizational and workflow factors. Participants included 23 physicians, 9 clinical information technology specialists, and 8 quality/safety managers. Results Evaluation results indicated that our software prototype fit within the technical environment and clinical workflow, and physicians were able to use it successfully. Quality/safety managers reported that the tool would be useful in future quality assurance activities to detect patients who lack documented follow-up. Additionally, we successfully installed the software on the local facility’s “test” EHR system, thus demonstrating technical compatibility. Conclusion To address the factors involved in missed

  10. The Use of Sexually Explicit Material in Clinical, Educational and Research Settings in the United Kingdom and Its Relation to the Development of Psychosexual Therapy and Sex Education

    ERIC Educational Resources Information Center

    Brewster, Marnie; Wylie, Kevan R.

    2008-01-01

    The present review describes the development and use of sexually explicit material in sex education within UK psychosexual therapy clinics, medical schools and also in state-maintained secondary schools with reference to interests that have shaped the provision of sex education since the early twentieth century. A short summary of published books…

  11. Adenotonsillar hypertrophy as a risk factor of dentofacial abnormality in Korean children.

    PubMed

    Kim, Dong-Kyu; Rhee, Chae Seo; Yun, Pil-Young; Kim, Jeong-Whun

    2015-11-01

    No studies for the role of adenotonsillar hypertrophy in development of dentofacial abnormalities have been performed in Asian pediatric population. Thus, we aimed to investigate the relationship between adenotonsillar hypertrophy and dentofacial abnormalities in Korean children. The present study included consecutive children who visited a pediatric clinic for sleep-disordered breathing due to habitual mouth breathing, snoring or sleep apnea. Their palatine tonsils and adenoids were graded by oropharyngeal endoscopy and lateral cephalometry. Anterior open bite, posterior crossbite, and Angle's class malocclusions were evaluated for dentofacial abnormality. The receiver-operating characteristic curve analysis was used to identify age cutoffs to predict dentofacial abnormality. A total of 1,083 children were included. The presence of adenotonsillar hypertrophy was significantly correlated with the prevalence of dentofacial abnormality [adjusted odds ratio = 4.587, 95% CI (2.747-7.658)] after adjusting age, sex, body mass index, allergy, and Korean version of obstructive sleep apnea-18 score. The cutoff age associated with dentofacial abnormality was 5.5 years (sensitivity = 75.5%, specificity = 67%) in the children with adenotonsillar hypertrophy and 6.5 years (sensitivity = 70.6%, specificity = 57%) in those without adenotonsillar hypertrophy. In conclusion, adenotonsillar hypertrophy may be a risk factor for dentofacial abnormalities in Korean children and early surgical intervention could be considered with regards to dentofacial abnormality.

  12. Heterosexual and Homosexual Partners Practising Unprotected Sex May Develop Allogeneic Immunity and to a Lesser Extent Tolerance

    PubMed Central

    Kingsley, Cherry; Peters, Barry; Babaahmady, Kaboutar; Pomeroy, Laura; Rahman, Durdana; Vaughan, Robert; Lehner, Thomas

    2009-01-01

    Background Epidemiological studies suggest that allogeneic immunity may inhibit HIV-1 transmission from mother to baby and is less frequent in multiparous than uniparous women. Alloimmune responses may also be elicited during unprotected heterosexual intercourse, which is associated ex vivo with resistance to HIV infection. Methodology/Principal Findings The investigation was carried out in well-defined heterosexual and homosexual monogamous partners, practising unprotected sex and a heterosexual cohort practising protected sex. Allogeneic CD4+ and CD8+ T cell proliferative responses were elicited by stimulating PBMC with the partners' irradiated monocytes and compared with 3rd party unrelated monocytes, using the CFSE method. Significant increase in allogeneic proliferative responses was found in the CD4+ and CD8+ T cells to the partners' irradiated monocytes, as compared with 3rd party unrelated monocytes (p≤0.001). However, a significant decrease in proliferative responses, especially of CD8+ T cells to the partners' compared with 3rd party monocytes was consistent with tolerization, in both the heterosexual and homosexual partners (p<0.01). Examination of CD4+CD25+FoxP3+ regulatory T cells by flow cytometry revealed a significantly greater proportion of these cells in the homosexual than heterosexual partners practising unprotected sex (p<0.05). Ex vivo studies of infectivity of PBMC with HIV-1 showed significantly greater inhibition of infectivity of PBMC from heterosexual subjects practising unprotected compared with those practising protected sex (p = 0.02). Conclusions/Significance Both heterosexual and homosexual monogamous partners practising unprotected sex develop allogeneic CD4+ and CD8+ T cell proliferative responses to the partners' unmatched cells and a minority may be tolerized. However, a greater proportion of homosexual rather than heterosexual partners developed CD4+CD25FoxP3+ regulatory T cells. These results, in addition to finding

  13. Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

    PubMed Central

    Nevarez, Lisette; Pogue, Robert; Krakow, Deborah; Cohn, Daniel H.

    2016-01-01

    The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutations in SF3B4, a component of the U2 small nuclear ribonucleoprotein particle (U2 snRNP). Furthermore, a case with a phenotype intermediate between Rodriguez and Nager syndromes has been shown to have an SF3B4 mutation. We identified heterozygosity for SF3B4 mutations in Rodriguez syndrome, confirming that the phenotype is a dominant disorder that is allelic with Nager syndrome. The mutations led to reduced SF3B4 synthesis and defects in mRNA splicing, primarily exon skipping. The mutations also led to reduced expression in growth plate chondrocytes of target genes, including the DLX5, DLX6, SOX9, and SOX6 transcription factor genes, which are known to be important for skeletal development. These data provide mechanistic insight toward understanding how SF3B4 mutations lead to the skeletal abnormalities observed in the acrofacial dysostoses. PMID:27622494

  14. [The sex dimorphism of the hepatoid circumanal glands in the dog and the dynamics of its development].

    PubMed

    Shabadash, S A; Zelikina, T I

    1995-01-01

    The histology of sexual dimorphism of the dog hepatoid circumanal glands has not been studied before. Studies of hepatoid and other skin glands of the circumanal region of adult dogs and puppies (1 and 38 days) of both sexes have shown striking differences in the structure of this region in adult males and females and complete qualitative similarity in puppies of the both sexes. The hepatoid glands of adult males form a massive glandular layer comprising 91% of the skin thickness and supplanting all other glandular types. In adult females these glands are reduced to widely spaced islets (12% of the skin thickness), and the apocrine glands are the prevailing glandular type (53%). The hepatoid glands of puppies of the both sexes develop according to the same structural scheme, approaching rapidly to the glands of adult males. In female puppies they develop more rapidly, and at the age of 38 days their absolute size (length of glandular lobes) is already thrice that of adult females. The hepatoid glands of adult females undergo a very significant regress and possess several structural features suggesting their degeneration.

  15. Sex differences in multisensory speech processing in both typically developing children and those on the autism spectrum

    PubMed Central

    Ross, Lars A.; Del Bene, Victor A.; Molholm, Sophie; Frey, Hans-Peter; Foxe, John J.

    2015-01-01

    Background: Previous work has revealed sizeable deficits in the abilities of children with an autism spectrum disorder (ASD) to integrate auditory and visual speech signals, with clear implications for social communication in this population. There is a strong male preponderance in ASD, with approximately four affected males for every female. The presence of sex differences in ASD symptoms suggests a sexual dimorphism in the ASD phenotype, and raises the question of whether this dimorphism extends to ASD traits in the neurotypical population. Here, we investigated possible sexual dimorphism in multisensory speech integration in both ASD and neurotypical individuals. Methods: We assessed whether males and females differed in their ability to benefit from visual speech when target words were presented under varying levels of signal-to-noise, in samples of neurotypical children and adults, and in children diagnosed with an ASD. Results: In typically developing (TD) children and children with ASD, females (n = 47 and n = 15, respectively) were significantly superior in their ability to recognize words under audiovisual listening conditions compared to males (n = 55 and n = 58, respectively). This sex difference was absent in our sample of neurotypical adults (n = 28 females; n = 28 males). Conclusions: We propose that the development of audiovisual integration is delayed in male relative to female children, a delay that is also observed in ASD. In neurotypicals, these sex differences disappear in early adulthood when females approach their performance maximum and males “catch up.” Our findings underline the importance of considering sex differences in the search for autism endophenotypes and strongly encourage increased efforts to study the underrepresented population of females within ASD. PMID:26074757

  16. Sex, stress and the brain: interactive actions of hormones on the developing and adult brain.

    PubMed

    McEwen, B S

    2014-12-01

    The brain is a target of steroid hormone actions that affect brain architecture, molecular and neurochemical processes, behavior and neuroprotection via both genomic and non-genomic actions. Estrogens have such effects throughout the brain and this article provides an historical and current view of how this new view has come about and how it has affected the study of sex differences, as well as other areas of neuroscience, including the effects of stress on the brain.

  17. Are female sex hormones teratogenic?

    PubMed

    Wilson, J G; Brent, R L

    1981-11-01

    An analysis of available epidemiologic data leads the present reviewers to conclude that the use of exogenous hormones during human pregnancy has not been proved to cause developmental abnormality in nongenital organs and tissues. This conclusion is further supported by the animal laboratory data. The preponderance of evidence at this writing indicates a lack of causal association between hormonal use during pregnancy and nongenital malformation of the offspring. The quality of the epidemiologic data does not, at this time, permit a definitive conclusion that sex hormones during pregnancy may not, under as yet to be defined conditions, have some adverse effect on human prenatal development. If there are increased risks of nongenital malformations associated with the administration of certain sex steroids, the risks are very small, may not be causal, and are substantially below the spontaneous risk of malformations. In spite of the present degree of uncertainty, the clinical, epidemiologic, and laboratory data do permit the formulation of a rational approach to handling problems related to sex steroid usage and exposure in pregnant women.

  18. Sex-dimorphic behaviour development in the human: prenatal hormone administration and postnatal socialization.

    PubMed

    Green, R

    An interdisciplinary integrative approach must be utilized in the study of psychosexual differentiation. The approach must capitalize on data derived from non-human models, from experiments of nature, and from experiments of nurture. Studies from non-human primates strongly suggest the influence of prenatal sex hormone levels on postnatal sexually dimorphic behaviours. Starting from this basis we have studied sixty young adult men whose mothers received, during pregnancy, diethylstilboestrol, diethylstilboestrol and natural progesterone, natural progesterone, or synthetic progesterone. They have been compared with matched controls not exposed in utero to exogenous hormones. Studies of socialization patterns must document the differential developmental experiences, if any, of children with atypical and typical sex-typed behaviours. To this end, we are studying 60 boys whose behaviour before puberty was decidedly feminine, and their parents, and contrasting them with masculine boys and their parents. We are also studying 50 girls whose behaviour before puberty was 'masculine', and contrasting them with 'feminine' girls. Additionally, we are studying the sexually dimorphic behaviour of children of sexually atypical parents. The parents have either undergone sex-change surgery (male-to-female or female-to-male) or are homosexual. Data from the three studies are presented. A call is made to researchers working with non-human primates to test and extend these findings.

  19. Milk from dams fed an obesogenic diet combined with a high-fat/high-sugar diet induces long-term abnormal mammary gland development in the rabbit.

    PubMed

    Hue-Beauvais, C; Koch, E; Chavatte-Palmer, P; Galio, L; Chat, S; Letheule, M; Rousseau-Ralliard, D; Jaffrezic, F; Laloë, D; Aujean, E; Révillion, F; Lhotellier, V; Gertler, A; Devinoy, E; Charlier, M

    2015-04-01

    Alterations to the metabolic endocrine environment during early life are crucial to mammary gland development. Among these environmental parameters, the initial nutritional event after birth is the consumption of milk, which represents the first maternal support provided to mammalian newborns. Milk is a complex fluid that exerts effects far beyond its immediate nutritional value. The present study, therefore, aimed to determine the effect of the nutritional changes during the neonatal and prepubertal periods on the adult mammary phenotype. Newborn rabbits were suckled by dams fed a high-fat/high-sugar obesogenic (OD) or a control (CON) diet and then subsequently fed either the OD or CON diets from the onset of puberty and throughout early pregnancy. Mammary glands were collected during early pregnancy (Day 8 of pregnancy). Rabbits fed with OD milk and then subjected to an OD diet displayed an abnormal development of the mammary gland: the mammary ducts were markedly enlarged (P < 0.05) and filled with abundant secretory products. Moreover, the alveolar secretory structures were disorganized, with an abnormal aspect characterized by large lumina. Mammary epithelial cells contained numerous large lipid droplets and exhibited fingering of the apical membrane and abnormally enlarged intercellular spaces filled with casein micelles. Leptin has been shown to be involved in modulating several developmental processes. We therefore analyzed its expression in the mammary gland. Mammary leptin mRNA was strongly expressed in rabbits fed with OD milk and subjected to an OD diet by comparison with the CON rabbits. Leptin transcripts and protein were localized in the epithelial cells, indicating that the increase in leptin synthesis occurs in this compartment. Taken together, these findings suggest that early-life nutritional history, in particular through the milking period, can determine subsequent mammary gland development. Moreover, they highlight the potentially important

  20. From psycho-social theory to sustainable classroom practice: developing a research-based teacher-delivered sex education programme.

    PubMed

    Wight, D; Abraham, C

    2000-02-01

    This paper describes the development of a theoretically based sex education programme currently undergoing a randomized controlled trial in the UK. It considers some of the practical difficulties involved in translating research-based conclusions into acceptable, replicable and potentially effective classroom lessons. The discussion acknowledges that the implications of social psychological research and the requirements of rigorous evaluation may conflict with accepted principles inherent in current sex education practice. It also emphasizes that theoretical ideas must be carefully embedded in lessons which are informed by an awareness of classroom culture, and the needs and skills of teachers. For example, the use of same-sex student groups to reflect on the gendered construction of sexuality may be problematic. Materials must be tailored to recipients' circumstances, which may require substituting for limited experience with the use of detailed scripts and scenarios. Furthermore, role-play techniques for sexual negotiation that work elsewhere may not be effective in the UK. The use of trigger video sessions and other techniques are recommended. Finally, the problems involved in promoting condom-related skills are discussed. The paper concludes that, if an intervention is to be sustainable beyond the research stage, it must be designed to overcome such problems while remaining theoretically informed.

  1. Sex and the preimplantation embryo: implications of sexual dimorphism in the preimplantation period for maternal programming of embryonic development.

    PubMed

    Hansen, Peter J; Dobbs, Kyle B; Denicol, Anna C; Siqueira, Luiz G B

    2016-01-01

    The developmental program of the embryo displays a plasticity that can result in long-acting effects that extend into postnatal life. In mammals, adult phenotype can be altered by changes in the maternal environment during the preimplantation period. One characteristic of developmental programming during this time is that the change in adult phenotype is often different for female offspring than for male offspring. In this paper, we propose the hypothesis that sexual dimorphism in preimplantation programming is mediated, at least in part, by sex-specific responses of embryos to maternal regulatory molecules whose secretion is dependent on the maternal environment. The strongest evidence for this idea comes from the study of colony-stimulating factor 2 (CSF2). Expression of CSF2 from the oviduct and endometrium is modified by environmental factors of the mother, in particular seminal plasma and obesity. Additionally, CSF2 alters several properties of the preimplantation embryo and has been shown to alleviate negative consequences of culture of mouse embryos on postnatal phenotype in a sex-dependent manner. In cattle, exposure of preimplantation bovine embryos to CSF2 causes sex-specific changes in gene expression, interferon-τ secretion and DNA methylation later in pregnancy (day 15 of gestation). It is likely that several embryokines can alter postnatal phenotype through actions directed towards the preimplantation embryo. Identification of these molecules and elucidation of the mechanisms by which sexually-disparate programming is established will lead to new insights into the control and manipulation of embryonic development.

  2. Putting Prevention in Their Pockets: Developing Mobile Phone-Based HIV Interventions for Black Men Who Have Sex with Men

    PubMed Central

    Pike, Emily C.; Fowler, Beth; LeGrand, Sara; Parsons, Jeffrey T.; Bull, Sheana S.; Wilson, Patrick A.; Wohl, David A.; Hightow-Weidman, Lisa B.

    2013-01-01

    Abstract Young black men who have sex with men (MSM) bear a disproportionate burden of HIV. Rapid expansion of mobile technologies, including smartphone applications (apps), provides a unique opportunity for outreach and tailored health messaging. We collected electronic daily journals and conducted surveys and focus groups with 22 black MSM (age 18–30) at three sites in North Carolina to inform the development of a mobile phone-based intervention. Qualitative data was analyzed thematically using NVivo. Half of the sample earned under $11,000 annually. All participants owned smartphones and had unlimited texting and many had unlimited data plans. Phones were integral to participants' lives and were a primary means of Internet access. Communication was primarily through text messaging and Internet (on-line chatting, social networking sites) rather than calls. Apps were used daily for entertainment, information, productivity, and social networking. Half of participants used their phones to find sex partners; over half used phones to find health information. For an HIV-related app, participants requested user-friendly content about test site locators, sexually transmitted diseases, symptom evaluation, drug and alcohol risk, safe sex, sexuality and relationships, gay-friendly health providers, and connection to other gay/HIV-positive men. For young black MSM in this qualitative study, mobile technologies were a widely used, acceptable means for HIV intervention. Future research is needed to measure patterns and preferences of mobile technology use among broader samples. PMID:23565925

  3. Adult romantic relationships as contexts of human development: a multimethod comparison of same-sex couples with opposite-sex dating, engaged, and married dyads.

    PubMed

    Roisman, Glenn I; Clausell, Eric; Holland, Ashley; Fortuna, Keren; Elieff, Chryle

    2008-01-01

    This article presents a multimethod, multi-informant comparison of community samples of committed gay male (n=30) and lesbian (n=30) couples with both committed (n=50 young engaged and n=40 older married) and noncommitted (n=109 exclusively dating) heterosexual pairs. Specifically, in this study the quality of same- and opposite-sex relationships was examined at multiple levels of analysis via self-reports and partner reports, laboratory observations, and measures of physiological reactivity during dyadic interactions. Additionally, individuals in same-sex, engaged, and marital relationships were compared with one another on adult attachment security as assessed through the coherence of participants' narratives about their childhood experiences. Results indicated that individuals in committed same-sex relationships were generally not distinguishable from their committed heterosexual counterparts, with one exception--lesbians were especially effective at working together harmoniously in laboratory observations.

  4. Otoacoustic emissions, auditory evoked potentials and self-reported gender in people affected by disorders of sex development (DSD).

    PubMed

    Wisniewski, Amy B; Espinoza-Varas, Blas; Aston, Christopher E; Edmundson, Shelagh; Champlin, Craig A; Pasanen, Edward G; McFadden, Dennis

    2014-08-01

    Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) - (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and (3) individuals with 46,XY DSD including prenatal androgen exposure who developed a male gender despite initial rearing as females (men with DSD). Gender identity (GI) and role (GR) were measured both retrospectively and at the time of study participation, using standardized questionnaires. The main objective of this study was to determine if patterns of OAEs and AEPs correlate with gender in people affected by DSD and in controls. A second objective was to assess if OAE and AEP patterns differed according to degrees of prenatal androgen exposure across groups. Control males, men with DSD, and women with CAH produced fewer spontaneous OAEs (SOAEs) - the male-typical pattern - than control females and women with CAIS. Additionally, the number of SOAEs produced correlated with gender development across all groups tested. Although some sex differences in AEPs were observed between control males and females, AEP measures did not correlate with gender development, nor did they vary according to degrees of prenatal androgen exposure, among people with DSD. Thus, OAEs, but not AEPs, may prove useful as bioassays for assessing early brain exposure to androgens and predicting gender development in people with DSD.

  5. Otoacoustic Emissions, Auditory Evoked Potentials and Self-Reported Gender in People Affected by Disorders of Sex Development (DSD)

    PubMed Central

    Wisniewski, Amy B.; Espinoza-Varas, Blas; Aston, Christopher E.; Edmundson, Shelagh; Champlin, Craig A.; Pasanen, Edward G.; McFadden, Dennis

    2014-01-01

    Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) – (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and (3) individuals with 46, XY DSD including prenatal androgen exposure who developed a male gender despite initial rearing as females (men with DSD). Gender identity (GI) and role (GR) were measured both retrospectively and at the time of study participation, using standardized questionnaires. The main objective of this study was to determine if patterns of OAEs and AEPs correlate with gender in people affected by DSD and in controls. A second objective was to assess if OAE and AEP patterns differed according to degrees of prenatal androgen exposure across groups. Control males, men with DSD, and women with CAH produced fewer spontaneous OAEs (SOAEs) – the male-typical pattern – than control females and women with CAIS. Additionally, the number of SOAEs produced correlated with gender development across all groups tested. Although some sex differences in AEPs were observed between control males and females, AEP measures did not correlate with gender development, nor did they vary according to degrees of prenatal androgen exposure, among people with DSD. Thus, OAEs, but not AEPs, may prove useful as bioassays for assessing early brain exposure to androgens and predicting gender development in people with DSD. PMID:25038289

  6. The nature and development of sex attractant specificity in cockroaches of the genus Periplaneta. IV. electrophysiological study of attractant specificity and its determination by juvenile hormone.

    PubMed

    Schafer, R

    1977-02-01

    The antennae of male Periplaneta americana acquire a large number of olfactory receptors at the adult stage. Electrophysiological methods (single unit and electroantennogram recording) show that a portion of the receptors added at the adult ecdysis are sex attractant receptors. Sex attractant receptors are not present in large numbers on larval and adult female antennae. The differentiation of pheromone receptors is inhibited during normal larval development by juvenile hormone. Topical application of juvenile hormone-mimic to male antennae during the terminal larval instar inhibits their development. Comparative electrophysiological studies indicate a high degree of cross-reactivity of the P. americana sex attractant among four other species within the genus Periplaneta.

  7. Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.

    PubMed

    Bammens, Riet; Mehta, Nickita; Race, Valérie; Foulquier, François; Jaeken, Jaak; Tiemeyer, Michael; Steet, Richard; Matthijs, Gert; Flanagan-Steet, Heather

    2015-06-01

    The congenital disorders of glycosylation (CDG), a group of inherited diseases characterized by aberrant glycosylation, encompass a wide range of defects, including glycosyltransferases, glycosidases, nucleotide-sugar transporters as well as proteins involved in maintaining Golgi architecture, pH and vesicular trafficking. Mutations in a previously undescribed protein, TMEM165, were recently shown to cause a new form of CDG, termed TMEM165-CDG. TMEM165-CDG patients exhibit cartilage and bone dysplasia and altered glycosylation of serum glycoproteins. We utilized a morpholino knockdown strategy in zebrafish to investigate the physiologic and pathogenic functions of TMEM165. Inhibition of tmem165 expression in developing zebrafish embryos caused craniofacial abnormalities, largely attributable to fewer chondrocytes. Decreased expression of several markers of cartilage and bone development suggests that Tmem165 deficiency alters both chondrocyte and osteoblast differentiation. Glycomic analysis of tmem165 morphants also revealed altered initiation, processing and extension of N-glycans, paralleling some of the glycosylation changes noted in human patients. Collectively, these findings highlight the utility of zebrafish to elucidate pathogenic mechanisms associated with glycosylation disorders and suggest that the cartilage and bone dysplasia manifested in TMEM165-CDG patients may stem from abnormal development of chondrocytes and osteoblasts.

  8. Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG

    PubMed Central

    Bammens, Riet; Mehta, Nickita; Race, Valérie; Foulquier, François; Jaeken, Jaak; Tiemeyer, Michael; Steet, Richard; Matthijs, Gert; Flanagan-Steet, Heather

    2015-01-01

    The congenital disorders of glycosylation (CDG), a group of inherited diseases characterized by aberrant glycosylation, encompass a wide range of defects, including glycosyltransferases, glycosidases, nucleotide-sugar transporters as well as proteins involved in maintaining Golgi architecture, pH and vesicular trafficking. Mutations in a previously undescribed protein, TMEM165, were recently shown to cause a new form of CDG, termed TMEM165-CDG. TMEM165-CDG patients exhibit cartilage and bone dysplasia and altered glycosylation of serum glycoproteins. We utilized a morpholino knockdown strategy in zebrafish to investigate the physiologic and pathogenic functions of TMEM165. Inhibition of tmem165 expression in developing zebrafish embryos caused craniofacial abnormalities, largely attributable to fewer chondrocytes. Decreased expression of several markers of cartilage and bone development suggests that Tmem165 deficiency alters both chondrocyte and osteoblast differentiation. Glycomic analysis of tmem165 morphants also revealed altered initiation, processing and extension of N-glycans, paralleling some of the glycosylation changes noted in human patients. Collectively, these findings highlight the utility of zebrafish to elucidate pathogenic mechanisms associated with glycosylation disorders and suggest that the cartilage and bone dysplasia manifested in TMEM165-CDG patients may stem from abnormal development of chondrocytes and osteoblasts. PMID:25609749

  9. Karyotype and identification of sex in two endangered crane species

    USGS Publications Warehouse

    Goodpasture, C.; Seluja, G.; Gee, G.; Wood, Don A.

    1992-01-01

    A laboratory procedure for sex identification of monomorphic birds was developed using modern cytological methods of detecting chromosome abnormalities in human amniotic fluid samples. A pin feather is taken from a pre-fledging bird for tissue culture and karyotype analysis. Through this method, the sex was identified and the karyotype described of the whooping crane (Grus americana) and the Mississippi sandhill crane (G. canadensis pulla). Giemsa-stained karyotypes of these species showed an identical chromosome constitution with 2n = 78 + 2. However, differences in the amount of centromeric heterochromatin were observed in the Mississippi sandhill crane when compared to the whooping crane C-banded karyotype.

  10. Do the Interactions between Glucocorticoids and Sex Hormones Regulate the Development of the Metabolic Syndrome?

    PubMed Central

    Alemany, Marià

    2012-01-01

    The metabolic syndrome is basically a maturity-onset disease. Typically, its manifestations begin to flourish years after the initial dietary or environmental aggression began. Since most hormonal, metabolic, or defense responses are practically immediate, the procrastinated response do not seem justified. Only in childhood, the damages of the metabolic syndrome appear with minimal delay. Sex affects the incidence of the metabolic syndrome, but this is more an effect of timing than absolute gender differences, females holding better than males up to menopause, when the differences between sexes tend to disappear. The metabolic syndrome is related to an immune response, countered by a permanent increase in glucocorticoids, which keep the immune system at bay but also induce insulin resistance, alter the lipid metabolism, favor fat deposition, mobilize protein, and decrease androgen synthesis. Androgens limit the operation of glucocorticoids, which is also partly blocked by estrogens, since they decrease inflammation (which enhances glucocorticoid release). These facts suggest that the appearance of the metabolic syndrome symptoms depends on the strength (i.e., levels) of androgens and estrogens. The predominance of glucocorticoids and the full manifestation of the syndrome in men are favored by decreased androgen activity. Low androgens can be found in infancy, maturity, advanced age, or because of their inhibition by glucocorticoids (inflammation, stress, medical treatment). Estrogens decrease inflammation and reduce the glucocorticoid response. Low estrogen (infancy, menopause) again allow the predominance of glucocorticoids and the manifestation of the metabolic syndrome. It is postulated that the equilibrium between sex hormones and glucocorticoids may be a critical element in the timing of the manifestation of metabolic syndrome-related pathologies. PMID:22649414

  11. Emergence of Sex Differences in the Development of Substance Use and Abuse during Adolescence

    PubMed Central

    Kuhn, Dr. Cynthia

    2015-01-01

    Substance use and abuse begins during adolescence. Male and female adolescent humans initiate use at comparable rates, but males increase use faster. In adulthood, more men than women use and abuse addictive drugs. However, some women progress more rapidly from initiation of use to entry into treatment. In animal models, adolescent males and females consume addictive drugs similarly. However, reproductively mature females acquire self-administration faster, and in some models, escalate use more. Sex/gender differences exist in neurobiologic factors mediating both reinforcement (dopamine, opioids) and aversiveness (CRF, dynorphin), as well as intrinsic factors (personality, psychiatric co-morbidities) and extrinsic factors (history of abuse, environment especially peers and family) which influence the progression from initial use to abuse., Many of these important differences emerge during adolescence, and are moderated by sexual differentiation of the brain. Estradiol effects which enhance both dopaminergic and CRF-mediated processes contribute to the female vulnerability to substance use and abuse. Testosterone enhances impulsivity and sensation seeking in both males and females. Several protective factors in females also influence initiation and progression of substance use including hormonal changes of pregnancy as well as greater capacity for self-regulation and lower peak levels of impulsivity/sensation seeking. Same sex peers represent a risk factor more for males than females during adolescence, while romantic partners increase risk for women during this developmental epoch. In summary, biologic factors, psychiatric co-morbidities as well as personality and environment present sex/gender-specific risks as adolescents begin to initiate substance use. PMID:26049025

  12. Emergence of sex differences in the development of substance use and abuse during adolescence.

    PubMed

    Kuhn, Cynthia

    2015-09-01

    Substance use and abuse begin during adolescence. Male and female adolescent humans initiate use at comparable rates, but males increase use faster. In adulthood, more men than women use and abuse addictive drugs. However, some women progress more rapidly from initiation of use to entry into treatment. In animal models, adolescent males and females consume addictive drugs similarly. However, reproductively mature females acquire self-administration faster, and in some models, escalate use more. Sex/gender differences exist in neurobiologic factors mediating both reinforcement (dopamine, opioids) and aversiveness (CRF, dynorphin), as well as intrinsic factors (personality, psychiatric co-morbidities) and extrinsic factors (history of abuse, environment especially peers and family) which influence the progression from initial use to abuse. Many of these important differences emerge during adolescence, and are moderated by sexual differentiation of the brain. Estradiol effects which enhance both dopaminergic and CRF-mediated processes contribute to the female vulnerability to substance use and abuse. Testosterone enhances impulsivity and sensation seeking in both males and females. Several protective factors in females also influence initiation and progression of substance use including hormonal changes of pregnancy as well as greater capacity for self-regulation and lower peak levels of impulsivity/sensation seeking. Same sex peers represent a risk factor more for males than females during adolescence, while romantic partners increase risk for women during this developmental epoch. In summary, biologic factors, psychiatric co-morbidities as well as personality and environment present sex/gender-specific risks as adolescents begin to initiate substance use.

  13. Sexing young snowy owls

    USGS Publications Warehouse

    Seidensticker, M.T.; Holt, D.W.; Detienne, J.; Talbot, S.; Gray, K.

    2011-01-01

    We predicted sex of 140 Snowy Owl (Bubo scandiacus) nestlings out of 34 nests at our Barrow, Alaska, study area to develop a technique for sexing these owls in the field. We primarily sexed young, flightless owls (3844 d old) by quantifying plumage markings on the remiges and tail, predicting sex, and collecting blood samples to test our field predictions using molecular sexing techniques. We categorized and quantified three different plumage markings: two types of bars (defined as markings that touch the rachis) and spots (defined as markings that do not touch the rachis). We predicted sex in the field assuming that males had more spots than bars and females more bars than spots on the remiges and rectrices. Molecular data indicated that we correctly sexed 100% of the nestlings. We modeled the data using random forests and classification trees. Both models indicated that the number and type of markings on the secondary feathers were the most important in classifying nestling sex. The statistical models verified our initial qualitative prediction that males have more spots than bars and females more bars than spots on flight feathers P6P10 for both wings and tail feathers T1 and T2. This study provides researchers with an easily replicable and highly accurate method for sexing young Snowy Owls in the field, which should aid further studies of sex-ratios and sex-related variation in behavior and growth of this circumpolar owl species. ?? 2011 The Raptor Research Foundation, Inc.

  14. Potential coverage of circulating HPV types by current and developing vaccines in a group of women in Bosnia and Herzegovina with abnormal Pap smears.

    PubMed

    Salimović-Bešić, I; Hukić, M

    2015-09-01

    The objectives of this study were to identify human papillomavirus (HPV) genotypes in a group of Bosnian-Herzegovinian women with abnormal cytology and to assess their potential coverage by vaccines. HPVs were identified by multiplex real-time PCR test (HPV High Risk Typing Real-TM; Sacace Biotechnologies, Italy) of 105 women with an abnormal cervical Pap smear and positive high-risk (HR) HPV DNA screening test. The most common genotypes in the study were HPV-16 (32·6%, 48/147), HPV-31 (14·3%, 21/147), HPV-51 (9·5%, 14/147) and HPV-18 (7·5%, 11/147). The overall frequency of HR HPV-16 and/or HPV-18, covered by currently available vaccines [Gardasil® (Merck & Co., USA) and Cervarix®; (GlaxoSmithKline, UK)] was lower than the overall frequency of other HPVs detected in the study (40·1%, 59/174, P = 0·017). Group prevalence of HR HPVs targeted by a nine-valent vaccine in development (code-named V503) was higher than total frequency of other HPVs detected (68·0%, 100/147, P < 0·001). Development of cervical cytological abnormalities was independent of the presence of multiple infections (χ 2 = 0·598, P = 0·741). Compared to other HPVs, dependence of cervical diagnosis and HPV-16, -18 (P = 0·008) and HPV-16, -18, -31 (P = 0·008) infections were observed. Vaccines targeting HR HPV-16, -18 and -31 might be an important tool in the prevention of cervical disease in Bosnia and Herzegovina.

  15. Psychosocial Factors in Disorders of Sex Development in a Long-Term Perspective: What Clinical Opportunities are there to Intervene?

    PubMed

    Nordenström, A

    2015-05-01

    Disorders or differences in sex development (DSD) comprise a wide spectrum of severity. The overall goal for the treatment and care is good quality of life but current knowledge concerning the psychosocial situation and health related quality of life for patients with different forms of DSD is limited. Follow-up studies have often focused on surgical results, sexual function, and psychosexual outcome and indicated unsatisfactory results in many cases. Epidemiological studies show less than optimal psychosocial situation for some of the diagnostic groups. Studies indicate that access to psychological support and understandable information is important for the outcome. Hormonal and surgical treatments are improving and new and better ways to strengthen the patient's ability to cope with the situation are needed. In a well-functioning multidisciplinary team, the patient's and family's needs should be identified. Tools to accomplish this can be developed. The care and our knowledge about disorders of sex development have developed considerably during the last decade. These are small patient groups with rare conditions that require specialized, highly qualified care in all aspects: medical, surgical, and psychological. It is important that changes in treatment practice are continuously evaluated.

  16. Bone health in disorders of sex differentiation.

    PubMed

    Bertelloni, S; Baroncelli, G I; Mora, S

    2010-09-01

    Sex steroids are main regulators of skeletal growth, maturation and mass in both men and women. People with disorders of sex development (DSD) may experience problems in developing normal bone growth, structure and mass, because abnormal sex steroid secretion or action may be operative. In complete androgen insensitivity syndrome several reports documented reduced bone mineral density (BMD). Reduced BMD is evident in patients with not removed or removed gonads, but it is poorer in the latter, mainly when compliance with estrogen replacement therapy is not guaranteed. Large impairment of BMD does not seem to be present in patients with partial androgen insensitivity syndrome or 5alpha-reductase-2 deficiency, providing that gonads are not removed or that substitutive therapy is optimized. In congenital adrenal hyperplasia, BMD may be impaired as a result of not optimal glucocorticoid administration. In Turner syndrome, impaired BMD may result from the combined actions of estrogen deficiency, low bone dimensions, altered bone geometry, deficient cortical bone, and trabecular bone loss. Optimal estrogen administration seems to be important in preserving bone mass and enhancing trabecular bone volume. On the whole, bone health represents a main clinical issue for the management of persons with disorders of sex differentiation, and well designed longitudinal studies should be developed to improve their bone health and well-being.

  17. The unintended consequences of sex education: an ethnography of a development intervention in Latin America

    PubMed Central

    Nelson, Erica; Edmonds, Alexander; Ballesteros, Marco; Encalada Soto, Diana; Rodriguez, Octavio

    2014-01-01

    This paper is an ethnography of a four-year, multi-disciplinary adolescent sexual and reproductive health intervention in Bolivia, Nicaragua and Ecuador. An important goal of the intervention – and of the larger global field of adolescent sexual and reproductive health – is to create more open parent-to-teen communication. This paper analyzes the project's efforts to foster such communication and how social actors variously interpreted, responded to, and repurposed the intervention's language and practices. While the intervention emphasized the goal of ‘open communication,’ its participants more often used the term ‘confianza’ (trust). This norm was defined in ways that might – or might not – include revealing information about sexual activity. Questioning public health assumptions about parent–teen communication on sex, in and of itself, is key to healthy sexual behavior, the paper explores a pragmatics of communication on sex that includes silence, implied expectations, gendered conflicts, and temporally delayed knowledge. PMID:25175294

  18. Adult Romantic Relationships as Contexts of Human Development: A Multimethod Comparison of Same-Sex Couples with Opposite-Sex Dating, Engaged, and Married Dyads

    ERIC Educational Resources Information Center

    Roisman, Glenn I.; Clausell, Eric; Holland, Ashley; Fortuna, Keren; Elieff, Chryle

    2008-01-01

    This article presents a multimethod, multi-informant comparison of community samples of committed gay male (n=30) and lesbian (n=30) couples with both committed (n=50 young engaged and n=40 older married) and noncommitted (n=109 exclusively dating) heterosexual pairs. Specifically, in this study the quality of same- and opposite-sex relationships…

  19. A New Primer for Sex Identification of Ducks and a Minimally Invasive Technique for Sampling of Allantoic Fluid to Detect Sex during Bird Embryo Development.

    PubMed

    Li, Huifang; Hu, Yan; Song, Chi; Ji, Gaige; Liu, Hongxiang; Xu, Wenjuan; Ding, Jing

    2015-01-01

    During the early incubation period of the duck, from embryonic day 1 to 13, a precise identification of the sex may be difficult. In a preliminary test, we found a defect in the use of the classical P2/P8, 1237L/1272H, and 2550F/2718R primers for chromo-helicase-DNA-binding 1 gene (CHD1) as a PCR-based test to identify sex in ducks. Therefore, universal PCR primers HPF/HPR for sexing ducks were designed. The PCR product was cloned, sequenced, and analyzed using GenBank. The effectiveness of the primers was compared using samples of blood and feathers from adult birds and chorioallantoic membranes and allantoic fluid (AF) of embryos as a source of DNA. The 495-bp CHD1-Z and the 351-bp CHD1-W PCR amplicons could be easily distinguished on a 3% agarose gel, and females (ZW) displayed 2 visible bands whereas only a single band was found in males (ZZ). The results indicated that HPF/HPR primers were highly efficient and more reliable than the classical primers used for sexing ducks. During the design of the new primers, an AF sampling technique was established to collect a very small amount of AF from free-living birds. This technique, which was minimally invasive, had no adverse effects on either embryos or the post-hatching survival of young ducks and could be used in developmental biology research in birds.

  20. [Molecular abnormalities in lymphomas].

    PubMed

    Delsol, G

    2010-11-01

    Numerous molecular abnormalities have been described in lymphomas. They are of diagnostic and prognostic value and are taken into account for the WHO classification of these tumors. They also shed some light on the underlying molecular mechanisms involved in lymphomas. Overall, four types of molecular abnormalities are involved: mutations, translocations, amplifications and deletions of tumor suppressor genes. Several techniques are available to detect these molecular anomalies: conventional cytogenetic analysis, multicolor FISH, CGH array or gene expression profiling using DNA microarrays. In some lymphomas, genetic abnormalities are responsible for the expression of an abnormal protein (e.g. tyrosine-kinase, transcription factor) detectable by immunohistochemistry. In the present review, molecular abnormalities observed in the most frequent B, T or NK cell lymphomas are discussed. In the broad spectrum of diffuse large B-cell lymphomas microarray analysis shows mostly two subgroups of tumors, one with gene expression signature corresponding to germinal center B-cell-like (GCB: CD10+, BCL6 [B-Cell Lymphoma 6]+, centerine+, MUM1-) and a subgroup expressing an activated B-cell-like signature (ABC: CD10-, BCL6-, centerine-, MUM1+). Among other B-cell lymphomas with well characterized molecular abnormalies are follicular lymphoma (BCL2 deregulation), MALT lymphoma (Mucosa Associated Lymphoid Tissue) [API2-MALT1 (mucosa-associated-lymphoid-tissue-lymphoma-translocation-gene1) fusion protein or deregulation BCL10, MALT1, FOXP1. MALT1 transcription factors], mantle cell lymphoma (cycline D1 [CCND1] overexpression) and Burkitt lymphoma (c-Myc expression). Except for ALK (anaplastic lymphoma kinase)-positive anaplastic large cell lymphoma, well characterized molecular anomalies are rare in lymphomas developed from T or NK cells. Peripheral T cell lymphomas not otherwise specified are a heterogeneous group of tumors with frequent but not recurrent molecular abnormalities

  1. A Case of ADHD and a Major Y Chromosome Abnormality

    ERIC Educational Resources Information Center

    Mulligan, Aisling; Gill, Michael; Fitzgerald, Michael

    2008-01-01

    Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm.…

  2. Using computer technology for HIV prevention among African-Americans: development of a tailored information program for safer sex (TIPSS)

    PubMed Central

    Noar, Seth M.; Webb, Elizabeth M.; Van Stee, Stephanie K.; Redding, Colleen A.; Feist-Price, Sonja; Crosby, Richard; Troutman, Adewale

    2011-01-01

    New prevention options are urgently needed for African-Americans in the United States given the disproportionate impact of HIV/AIDS on this group. This combined with recent evidence supporting the efficacy of computer technology-based interventions in HIV prevention led our research group to pursue the development of a computer-delivered individually tailored intervention for heterosexually active African-Americans—the tailored information program for safer sex (TIPSS). In the current article, we discuss the development of the TIPSS program, including (i) the targeted population and behavior, (ii) theoretical basis for the intervention, (iii) design of the intervention, (iv) formative research, (v) technical development and testing and (vi) intervention delivery and ongoing randomized controlled trial. Given the many advantages of computer-based interventions, including low-cost delivery once developed, they offer much promise for the future of HIV prevention among African-Americans and other at-risk groups. PMID:21257676

  3. Urine - abnormal color

    MedlinePlus

    ... medlineplus.gov/ency/article/003139.htm Urine - abnormal color To use the sharing features on this page, please enable JavaScript. The usual color of urine is straw-yellow. Abnormally colored urine ...

  4. Tooth - abnormal colors

    MedlinePlus

    ... medlineplus.gov/ency/article/003065.htm Tooth - abnormal colors To use the sharing features on this page, please enable JavaScript. Abnormal tooth color is any color other than white to yellowish- ...

  5. Abnormal Head Position

    MedlinePlus

    ... cause. Can a longstanding head turn lead to any permanent problems? Yes, a significant abnormal head posture could cause permanent ... occipitocervical synostosis and unilateral hearing loss. Are there any ... postures? Yes. Abnormal head postures can usually be improved depending ...

  6. Skeletal limb abnormalities

    MedlinePlus

    ... medlineplus.gov/ency/article/003170.htm Skeletal limb abnormalities To use the sharing features on this page, please enable JavaScript. Skeletal limb abnormalities refers to a variety of bone structure problems ...

  7. Unisexual cucumber flowers, sex and sex differentiation.

    PubMed

    Bai, Shu-Nong; Xu, Zhi-Hong

    2013-01-01

    Sex is a universal phenomenon in the world of eukaryotes. Attempts have been made to understand regulatory mechanisms for plant sex determination by investigating unisexual flowers. The cucumber plant is one of the model systems for studying how sex determination is regulated by phytohormones. A systematic investigation of the development of unisexual cucumber flowers is summarized here, and it is suggested that the mechanism of the unisexual flower can help us to understand how the process leading to one type of gametogenesis is prevented. Based on these findings, we concluded that the unisexual cucumber flowers is not an issue of sex differentiation, but instead a mechanism for avoiding self-pollination. Sex differentiation is essentially the divergent point(s) leading to heterogametogenesis. On the basis of analyses of sex differentiation in unicellular organisms and animals as well as the core process of plant life cycle, a concept of "sexual reproduction cycle" is proposed for understanding the essential role of sex and a "progressive model" for future investigations of sex differentiation in plants.

  8. Expression patterns of sex-determination genes in single male and female embryos of two Bactrocera fruit fly species during early development.

    PubMed

    Morrow, J L; Riegler, M; Frommer, M; Shearman, D C A

    2014-12-01

    In tephritids, the sex-determination pathway follows the sex-specific splicing of transformer (tra) mRNA, and the cooperation of tra and transformer-2 (tra-2) to effect the sex-specific splicing of doublesex (dsx), the genetic double-switch responsible for male or female somatic development. The Dominant Male Determiner (M) is the primary signal that controls this pathway. M, as yet uncharacterized, is Y-chromosome linked, expressed in the zygote and directly or indirectly diminishes active TRA protein in male embryos. Here we first demonstrated the high conservation of tra, tra-2 and dsx in two Australian tephritids, Bactrocera tryoni and Bactrocera jarvisi. We then used quantitative reverse transcription PCR on single, sexed embryos to examine expression of the key sex-determination genes during early embryogenesis. Individual embryos were sexed using molecular markers located on the B. jarvisi Y-chromosome that was also introgressed into a B. tryoni line. In B. jarvisi, sex-specific expression of tra transcripts occurred between 3 to 6 h after egg laying, and the dsx isoform was established by 7 h. These milestones were delayed in B. tryoni lines. The results provide a time frame for transcriptomic analyses to identify M and its direct targets, plus information on genes that may be targeted for the development of male-only lines for pest management.

  9. Abnormal Uterine Bleeding FAQ

    MedlinePlus

    ... PROBLEMS Abnormal Uterine Bleeding • What is a normal menstrual cycle? • When is bleeding abnormal? • At what ages is ... treat abnormal bleeding? •Glossary What is a normal menstrual cycle? The normal length of the menstrual cycle is ...

  10. Mitochondria DNA mutations cause sex-dependent development of hypertension and alterations in cardiovascular function.

    PubMed

    Golob, Mark J; Tian, Lian; Wang, Zhijie; Zimmerman, Todd A; Caneba, Christine A; Hacker, Timothy A; Song, Guoqing; Chesler, Naomi C

    2015-02-05

    Aging is associated with conduit artery stiffening that is a risk factor for and can precede hypertension and ventricular dysfunction. Increases in mitochondria DNA (mtDNA) frequency have been correlated with aging. Mice with a mutation in the encoding domain (D257A) of a proof-reading deficient version of mtDNA polymerase-γ (POLG) have musculoskeletal features of premature aging and a shortened lifespan. However, few studies using these mice have investigated the effects of mtDNA mutations on cardiovascular function. We hypothesized that the proof-reading deficient mtDNA POLG leads to arterial stiffening, hypertension, and ventricular hypertrophy. Ten to twelve month-old D257A mice (n=13) and age- and sex-matched wild-type controls (n=13) were catheterized for hemodynamic and ventricular function measurements. Left common carotid arteries (LCCA) were harvested for mechanical tests followed by histology. Male D257A mice had pulmonary and systemic hypertension, arterial stiffening, larger LCCA diameter (701±45 vs. 597±60μm), shorter LCCA axial length (8.96±0.56 vs. 10.10±0.80mm), and reduced hematocrit (29.1±6.1 vs. 41.3±8.1; all p<0.05). Male and female D257A mice had biventricular hypertrophy (p<0.05). Female D257A mice did not have significant increases in pressure or arterial stiffening, suggesting that the mechanisms of hypertension or arterial stiffening from mtDNA mutations differ based on sex. Our results lend insight into the mechanisms of age-related cardiovascular disease and may point to novel treatment strategies to address cardiovascular mortality in the elderly.

  11. BISPHENOL A EXPOSURE DURING EARLY DEVELOPMENT INDUCES SEX-SPECIFIC CHANGES IN ADULT ZEBRAFISH SOCIAL INTERACTIONS

    PubMed Central

    Weber, Daniel N.; Hoffmann, Raymond G.; Hoke, Elizabeth S.; Tanguay, Robert L.

    2014-01-01

    Developmental bisphenol A (BPA) exposure is associated with adverse behavioral effects, although underlying modes of action remain unclear. Because BPA is a suspected xenoestrogen, the objective was to identify sex-based changes in adult zebrafish social behavior developmentally exposed to BPA (0.0, 0.1 or 1 μM) or one of two control compounds (0.1μM 17β-estradiol [E2], and 0.1 μM GSK4716, a synthetic estrogen-related receptor γ ligand). A test chamber was divided lengthwise so each arena held one fish unable to detect the presence of the other fish. A mirror was inserted at one end of each arena; baseline activity levels were determined without mirror. Arenas were divided into 3, computer-generated zones to represent different distances from mirror image. Circadian rhythm patterns were evaluated at 1–3 (= AM) and 5–8 (= PM) hr postprandial. Adult zebrafish were placed into arenas and monitored by digital camera for 5 min. Total distance traveled, % time spent at mirror image, and number of attacks on mirror image were quantified. E2, GSK4716, and all BPA treatments dampened male activity and altered male circadian activity patterns; there was no marked effect on female activity. BPA induced non-monotonic effects (response curve changes direction within range of concentrations examined) on male % time at mirror only in AM. All treatments produced increased % time at the mirror during PM. Male attacks on the mirror were reduced by BPA exposure only during AM. There were sex-specific effects of developmental BPA on social interactions and time-of-day of observation affected results. PMID:25424546

  12. 50 SURVIVAL OF SEXED IVF-DERIVED BOVINE EMBRYOS FROZEN AT DIFFERENT PREIMPLANTATION STAGES OF DEVELOPMENT.

    PubMed

    Ferré, L; Fresno, C; Kjelland, M; Ross, P

    2016-01-01

    The ability to freeze in vitro-produced bovine embryos with a high post-thaw viability is still problematic and hampers logistics of on-farm embryo transfer. The objectives of this experiment were to compare different stages of development, freezing methods, and addition of cytoskeletal stabilisers (cytochalasin-B) before freezing. Ovaries were collected from an abattoir and oocytes aspirated from 2- to 6-mm follicles. Cumulus-oocyte complexes containing compact and complete cumulus cell layers were selected and matured in groups of 50 in 400µL of M199 medium supplemented with ALA-glutamine (0.1mM), Na pyruvate (0.2mM), gentamicin (5µgmL(-1)), EGF (50ngmL(-1)), ovine FSH (50ngmL(-1)), bLH (3µgmL(-1)), cysteamine (0.1mM), and 10% fetal bovine serum (FBS) for 22 to 24h. Fertilization (Day 0) was done using female sex-sorted semen selected with a discontinuous density gradient and diluted to a final concentration of 1×10(6) sperm/mL. Synthetic oviductal fluid (SOF)-FERT medium was supplemented with fructose (90µgmL(-1)), penicillamine (3µgmL(-1)), hypotaurine (11µgmL(-1)), and heparin (20µgmL(-1)). After 18h, presumptive zygotes were denuded and cultured in groups of 15 to 20 in 50-µL drops of SOF-BSA for 7 days. On Day 3.5 post-fertilization, 3% FBS was added. Low oxygen tension (5% O2) was used for culture. Morulae were selected at Day 5.5-6, blastocysts at Day 6-6.5, and expanded blastocysts at Day 6.5-7. Embryo harvesting for each stage was performed from a dedicated drop/dish and discarded in order to avoid further embryo stage collections. Grade 1 morulae, blastocysts, and expanded blastocysts were selected for freezing and placed randomly into 2 groups: slow-freezing and vitrification. Before freezing, half of the embryos from each stage were exposed to cytochalasin-B for 45min. The slow freezing protocol consisted of 1.5M ethylene glycol (EG)+20% FBS+0.4% BSA, and the cooling rate was 0.5°C/min. Slow-frozen embryo thawing was performed by exposing

  13. Sex Headaches

    MedlinePlus

    ... role during sex also may help. References Cutrer FM, et al. Cough, exercise, and sex headaches. Neurology ... aspx?resourceID=4. Accessed Jan. 19, 2015. Cutrer FM. Primary headache associated with sexual activity. http://www. ...

  14. Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development

    PubMed Central

    1995-01-01

    The ability of SV40 T antigen to cause abnormalities in cartilage development in transgenic mice and chimeras has been tested. The cis- regulatory elements of the COL2A1 gene were used to target expression of SV40 T antigen to differentiating chondrocytes in transgenic mice and chimeras derived from embryonal stem (ES) cells bearing the same transgene. The major phenotypic consequences of transgenic (pAL21) expression are malformed skeleton, disproportionate dwarfism, and perinatal/neonatal death. Expression of T antigen was tissue specific and in the main characteristic of the mouse alpha 1(II) collagen gene. Chondrocyte densities and levels of alpha 1(II) collagen mRNAs were reduced in the transgenic mice. Islands of cells which express cartilage characteristic genes such as type IIB procollagen, long form alpha 1(IX) collagen, alpha 2(XI) collagen, and aggrecan were found in the articular and growth cartilages of pAL21 chimeric fetuses and neonates. But these cells, which were expressing T antigen, were not properly organized into columns of proliferating chondrocytes. Levels of alpha 1(II) collagen mRNA were reduced in these chondrocytes. In addition, these cells did not express type X collagen, a marker for hypertrophic chondrocytes. The skeletal abnormality in pAL21 mice may therefore be due to a retardation of chondrocyte maturation or an impaired ability of chondrocytes to complete terminal differentiation and an associated paucity of some cartilage matrix components. PMID:7822417

  15. A Review of Sex Differences in Peer Relationship Processes: Potential Trade-offs for the Emotional and Behavioral Development of Girls and Boys

    PubMed Central

    Rose, Amanda J.; Rudolph, Karen D.

    2011-01-01

    Theory and research on sex differences in adjustment focus largely on parental, societal, and biological influences. However, it also is important to consider how peers contribute to girls’ and boys’ development. This paper provides a critical review of sex differences in: several peer-relationship processes, including behavioral and social-cognitive styles, stress and coping, and relationship provisions. Based on this review, a speculative peer-socialization model is presented that considers the implications of these sex differences for girls’ and boys’ emotional and behavioral development. Central to this model is the idea that sex-linked relationship processes have costs and benefits for girls’ and boys’ adjustment. Finally, we present recent research testing certain model components and propose approaches for testing understudied aspects of the model. PMID:16435959

  16. Development of a combined sex pheromone-based monitoring system for Malacosoma disstria (Lepidoptera: Lasoicampidae) and Choristoneura conflictana (Lepidoptera: Tortricidae).

    PubMed

    Jones, Brad C; Roland, Jens; Evenden, Maya L

    2009-04-01

    Sympatric insect species that do not share sex pheromone components but have a common host and overlapping adult flight periods are potential targets for the development of a combined sex pheromone-based monitoring tool. A system using a single synthetic pheromone blend in a single lure to bait a single trap to monitor two pests simultaneously represents a novel approach. In this study, a combined pheromone-based monitoring system was developed for two lepidopterous defoliators of trembling aspen Populus tremuloides Michenaux in western Canada, Malacosoma disstria Hübner (Lepidoptera: Lasoicampidae) and Choristoneura conflictana (Walker) (Lepidoptera: Tortricidae). Efficacy and longevity of a lure containing both species' pheromones were tested. Immature stages of each species were sampled to evaluate the ability of pheromone traps baited with the combined lure to predict population density. The combined lure was as attractive to M. disstria and C. conflictana males as were traps baited with each species' pheromone alone. Lure age had no effect on attraction of male C. conflictana to the combined lure but had a negative effect on attraction of M. disstria. The number of male moths captured in traps baited with the combined lure was related to immature counts for both species. Pupal counts of M. disstria and larval counts of C. conflictana provided the best relationships with male captures. The combined lure does not attract M. disstria males in direct proportion to population density, because trap catch was comparatively low at high-density M. disstria sites.

  17. Developmental stages and sex differences of white matter and behavioral development through adolescence: a longitudinal diffusion tensor imaging (DTI) study.

    PubMed

    Simmonds, Daniel J; Hallquist, Michael N; Asato, Miya; Luna, Beatriz

    2014-05-15

    White matter (WM) continues to mature through adolescence in parallel with gains in cognitive ability. To date, developmental changes in human WM microstructure have been inferred using analyses of cross-sectional or two time-point follow-up studies, limiting our understanding of individual developmental trajectories. The aims of the present longitudinal study were to characterize the timing of WM growth and investigate how sex and behavior are associated with different developmental trajectories. We utilized diffusion tensor imaging (DTI) in 128 individuals aged 8-28, who received annual scans for up to 5 years and completed motor and cognitive tasks. Flexible nonlinear growth curves indicated a hierarchical pattern of WM development. By late childhood, posterior cortical-subcortical connections were similar to adults. During adolescence, WM microstructure reached adult levels, including frontocortical, frontosubcortical and cerebellar connections. Later to mature in adulthood were major corticolimbic association tracts and connections at terminal gray matter sites in cortical and basal ganglia regions. These patterns may reflect adolescent maturation of frontal connectivity supporting cognitive abilities, particularly the protracted refinement of corticolimbic connectivity underlying cognition-emotion interactions. Sex and behavior also played a large role. Males showed continuous WM growth from childhood through early adulthood, whereas females mainly showed growth during mid-adolescence. Further, earlier WM growth in adolescence was associated with faster and more efficient responding and better inhibitory control whereas later growth in adulthood was associated with poorer performance, suggesting that the timing of WM growth is important for cognitive development.

  18. Tactile stimulation during development attenuates amphetamine sensitization and structurally reorganizes prefrontal cortex and striatum in a sex-dependent manner.

    PubMed

    Muhammad, Arif; Hossain, Shakhawat; Pellis, Sergio M; Kolb, Bryan

    2011-04-01

    This study investigated the effect of postnatal tactile stimulation (TS) on juvenile behavior, adult amphetamine (AMPH) sensitization, and the interaction of TS and AMPH on prefrontal cortical (PFC) thickness and striatum size. Pups received TS by stroking daily with a feather duster from birth till weaning and were tested, as juveniles, in behavioral tasks including open field locomotion, elevated maze, novel object recognition, and play fighting behavior. Development and persistence of drug-induced behavioral sensitization was tested by chronic AMPH administration and challenge, respectively. PFC thickness and striatum size were assessed from serial brain sections. The findings showed that TS rats spent less time with novel objects on first exposure but open field locomotion and elevated plus maze tasks were not affected substantially. TS reduced the frequency of play fighting and enhanced evasion in response to a playful attack, but only in males. The probability of complete rotation defense, leading to a supine posture during play, was reduced in both sexes. AMPH administration resulted in gradual increase in behavioral sensitization that persisted at least for 2 weeks. However, TS rats exhibited attenuated AMPH sensitization compared to sex-matched controls. Neuroanatomically, AMPH reduced the PFC thickness in control females but enlarged the posterior striatum in control males. TS experience blocked these effects. In summary, TS during development modulated the response to novel objects and altered social behaviors and attenuated AMPH-induced behavioral sensitization by preventing drug-induced structural alteration in the PFC and the striatum, brain regions implicated in drug abuse.

  19. Sexual maldevelopment and sex reversal, chromosomal causes.

    PubMed

    Magenis, R Ellen

    2006-01-01

    The SRY gene on the Y chromosome is the testis determining factor (TDF). It is therefore the initial male determining factor. However, phenotypic sex determination includes a cascade of genes located on autosomes as well as sex chromosomes. Aberrations of these genes may cause sexual maldevelopment or sex reversal. Abnormalities may include single gene mutations and gene loss or gain-changes may involve only sex organs or may be part of syndromes. These changes may also arise as chromosome abnormalities involving contiguous genes. Eight cases with chromosomal abnormalities involving different causative mechanisms are described herein. The most common cause is nondisjunction, including loss or gain of sex chromosomes. Less common causes are mispairing and crossing over in meiosis, chromosome breaks with repair, nonhomologous pairing due to low copy repeats and crossing over, and translocation (familial or de novo) with segregation. Cases include: [see: text].

  20. Equal Is Better: A Voc Ed Guide to Sex Fairness Resources and the Law. Vocational Education Development Series No. 8.

    ERIC Educational Resources Information Center

    L'Angelle, David, Comp.; Williams, Sarah, Comp.

    Intended to serve as a guide to selected current resources promoting sex equity in vocational education and to the legal regulations which mandate equitable programs, this reference guide is organized into two major sections: Sex Fairness Resources and The Law. Sex Fairness Resources divides the resources listed into sections that reflect six…

  1. Sex Therapy

    MedlinePlus

    ... effective for individuals of any age, sex or sexual orientation. Sex therapy is usually provided by psychologists, social workers, physicians or licensed therapists who have special training in issues related to sex ... do not have sexual contact with clients, in the office or anywhere ...

  2. Gender role across development in adults with 46,XY disorders of sex development including perineoscrotal hypospadias and small phallus raised male or female.

    PubMed

    Pappas, Kara B; Wisniewski, Amy B; Migeon, Claude J

    2008-07-01

    Self-rated degree of femininity and masculinity across development were evaluated for 40 adults affected by 46,XY disorders of sex development (DSDs) who presented at birth with a small phallus and perineoscrotal hypospadias, raised either male (n = 22) or female (n = 18). Most participants were confirmed or presumed to be affected by partial androgen insensitivity syndrome (n = 14), partial gonadal dysgenesis (n = 11), or were considered to have a poorly defined case of 46,XY DSD including ambiguous external genitalia (n = 15). Participants retrospectively evaluated their degree of masculinity and femininity during their childhood, adolescence, adulthood, and in the past 12 months of filling out a questionnaire pertaining to their psychosexual development. Participants raised male reported more masculinity than those raised female due to an increase in masculinization during adolescence and adulthood. Participants raised male also reported less femininity than those raised female throughout development. Participants raised female reported more femininity than those raised male due to an increase in feminization during adolescence and adulthood. Participants raised female also reported less masculinity than those raised male throughout development. These data support the proposition that some aspects of gender role (GR), such as masculinity and femininity, are capable of proceeding along female- or male-typic patterns depending on sex of rearing among individuals affected by specific types of 46,XY DSD. Furthermore, regardless of male or female rearing, GR increasingly corresponds with assigned sex as individuals proceed through sexual maturity and into adulthood. These results are consistent with the idea that socialization/learning contributes to GR development in humans in addition to data from others demonstrating endocrine influences.

  3. Parasites and steroid hormones: corticosteroid and sex steroid synthesis, their role in the parasite physiology and development.

    PubMed

    Romano, Marta C; Jiménez, Pedro; Miranda-Brito, Carolina; Valdez, Ricardo A

    2015-01-01

    In many cases parasites display highly complex life cycles that include the penetration and permanence of the larva or adults within host organs, but even in those that only have one host, reciprocal, intricate interactions occur. Evidence indicates that steroid hormones have an influence on the development and course of parasitic infections. The host gender's susceptibility to infection, and the related differences in the immune response are good examples of the host-parasite interplay. However, the capacity of these organisms to synthesize their own steroidogenic hormones still has more questions than answers. It is now well-known that many parasites synthesize ecdysteroids, but limited information is available on sex steroid and corticosteroid synthesis. This review intends to summarize some of the existing information in the field. In most, but not all parasitosis the host's hormonal environment determines the susceptibility, the course, and severity of parasite infections. In most cases the infection disturbs the host environment, and activates immune responses that end up affecting the endocrine system. Furthermore, sex steroids and corticosteroids may also directly modify the parasite reproduction and molting. Available information indicates that parasites synthesize some steroid hormones, such as ecdysteroids and sex steroids, and the presence and activity of related enzymes have been demonstrated. More recently, the synthesis of corticosteroid-like compounds has been shown in Taenia solium cysticerci and tapeworms, and in Taenia crassiceps WFU cysticerci. In-depth knowledge of the parasite's endocrine properties will contribute to understand their reproduction and reciprocal interactions with the host, and may also help designing tools to combat the infection in some clinical situations.

  4. The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.

    PubMed

    Demyda-Peyrás, S; Anaya, G; Bugno-Poniewierska, M; Pawlina, K; Membrillo, A; Valera, M; Moreno-Millán, M

    2014-05-01

    Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred colt, primarily detected using a commercial panel of short tandem repeat (STR) makers. Based on these results, we performed a full cytogenetic analysis using conventional and fluorescent in situ hybridization techniques with individual Equus caballus chromosome X and Equus caballus chromosome Y painting probes. We also tested the presence of two genes associated with the sexual development in horses and an extra novel panel of eight microsatellite markers specifically located in the sex chromosome pair. This is the first case report of a leukocyte chimerism between chromosomally normal (64,XY) and abnormal (63,X0) cell lines in horses. Our results indicate that the use of the short tandem repeat markers as a screening technique and as a confirmation utilizing cytogenetic techniques can be used as a very interesting, easy, and nonexpensive diagnostic approach to detect chromosomal abnormalities in the domestic horse.

  5. Inactivation of ca10a and ca10b Genes Leads to Abnormal Embryonic Development and Alters Movement Pattern in Zebrafish

    PubMed Central

    Aspatwar, Ashok; Barker, Harlan R.; Saralahti, Anni K.; Bäuerlein, Carina A.; Ortutay, Csaba; Pan, Peiwen; Kuuslahti, Marianne; Parikka, Mataleena; Rämet, Mika; Parkkila, Seppo

    2015-01-01

    Carbonic anhydrase related proteins (CARPs) X and XI are highly conserved across species and are predominantly expressed in neural tissues. The biological role of these proteins is still an enigma. Ray-finned fish have lost the CA11 gene, but instead possess two co-orthologs of CA10. We analyzed the expression pattern of zebrafish ca10a and ca10b genes during embryonic development and in different adult tissues, and studied 61 CARP X/XI-like sequences to evaluate their phylogenetic relationship. Sequence analysis of zebrafish ca10a and ca10b reveals strongly predicted signal peptides, N-glycosylation sites, and a potential disulfide, all of which are conserved, suggesting that all of CARP X and XI are secretory proteins and potentially dimeric. RT-qPCR showed that zebrafish ca10a and ca10b genes are expressed in the brain and several other tissues throughout the development of zebrafish. Antisense morpholino mediated knockdown of ca10a and ca10b showed developmental delay with a high rate of mortality in larvae. Zebrafish morphants showed curved body, pericardial edema, and abnormalities in the head and eye, and there was increased apoptotic cell death in the brain region. Swim pattern showed abnormal movement in morphant zebrafish larvae compared to the wild type larvae. The developmental phenotypes of the ca10a and ca10b morphants were confirmed by inactivating these genes with the CRISPR/Cas9 system. In conclusion, we introduce a novel zebrafish model to investigate the mechanisms of CARP Xa and CARP Xb functions. Our data indicate that CARP Xa and CARP Xb have important roles in zebrafish development and suppression of ca10a and ca10b expression in zebrafish larvae leads to a movement disorder. PMID:26218428

  6. The Role of Chronic Hypoxia in the Development of Neurocognitive Abnormalities in Preterm Infants with Bronchopulmonary Dysplasia

    ERIC Educational Resources Information Center

    Raman, Lakshmi; Georgieff, Michael K.; Rao, Raghavendra

    2006-01-01

    Bronchopulmonary dysplasia is the most common pulmonary morbidity in preterm infants and is associated with chronic hypoxia. Animal studies have demonstrated structural, neurochemical and functional alterations due to chronic hypoxia in the developing brain. Long-term impairments in visual-motor, gross and fine motor, articulation, reading,…

  7. Sex Education with Young Children.

    ERIC Educational Resources Information Center

    Koblinsky, Sally; And Others

    1980-01-01

    Discusses guidelines (developed by the Oregon State University Early Childhood Sex Education Project) for developing teacher-parent cooperation in providing sex education to young children. The guidelines concern how to talk about body differences and body functions; how to deal with masturbation, sex play and obscene language; and how to involve…

  8. Humeral development from neonatal period to skeletal maturity--application in age and sex assessment.

    PubMed

    Rissech, Carme; López-Costas, Olalla; Turbón, Daniel

    2013-01-01

    The goal of the present study is to examine cross-sectional information on the growth of the humerus based on the analysis of four measurements, namely, diaphyseal length, transversal diameter of the proximal (metaphyseal) end of the shaft, epicondylar breadth and vertical diameter of the head. This analysis was performed in 181 individuals (90 ♂ and 91 ♀) ranging from birth to 25 years of age and belonging to three documented Western European skeletal collections (Coimbra, Lisbon and St. Bride). After testing the homogeneity of the sample, the existence of sexual differences (Student's t- and Mann-Whitney U-test) and the growth of the variables (polynomial regression) were evaluated. The results showed the presence of sexual differences in epicondylar breadth above 20 years of age and vertical diameter of the head from 15 years of age, thus indicating that these two variables may be of use in determining sex from that age onward. The growth pattern of the variables showed a continuous increase and followed first- and second-degree polynomials. However, growth of the transversal diameter of the proximal end of the shaft followed a fourth-degree polynomial. Strong correlation coefficients were identified between humeral size and age for each of the four metric variables. These results indicate that any of the humeral measurements studied herein is likely to serve as a useful means of estimating sub-adult age in forensic samples.

  9. Identification of nickel response genes in abnormal early developments of sea urchin by differential display polymerase chain reaction.

    PubMed

    Ryu, Tae Kwon; Lee, Gunsup; Rhee, Yong; Park, Heung-Sik; Chang, Man; Lee, Sukchan; Lee, Jaean; Lee, Taek-Kyun

    2012-10-01

    Bioassays and biomarkers have been previously developed to assess the effects of heavy metal contaminants on the early life stages of the sea urchin. In this study, malformation in the early developmental processes was observed in sea urchin (Strongylocentrotus intermedius) larvae exposed to 10 ppm Ni for over 30 h. The most critical stage at which the triggering of nickel effects takes place is thought to be the blastula stage, which occurs after fertilization in larval development. To investigate the molecular-level responses of sea urchin exposed to heavy metal stress and to explore the differentially expressed genes that are induced or repressed by nickel, differential display polymerase chain reaction (DD-PCR) was used with sea urchin mRNAs. The malformation-related genes expressed in the early life stages of the sea urchin were cloned from larvae exposed to 10 ppm of nickel for 15 h, and accessed via DD-PCR. Sequence analysis results revealed that each of the genes evidenced high homology with EGF2, PCSK9, serine/threonine protein kinase, apolipophorin precursor protein, and MGC80921 protein/transcript variant 2. This result may prove useful in the development of novel biomarkers for the assessment of heavy metal stresses on sea urchin embryos.

  10. Development of predictive models for predicting binding affinity of endocrine disrupting chemicals to fish sex hormone-binding globulin.

    PubMed

    Liu, Huihui; Yang, Xianhai; Yin, Cen; Wei, Mengbi; He, Xiao

    2017-02-01

    Disturbing the transport process is a crucial pathway for endocrine disrupting chemicals (EDCs) exerting disrupting endocrine function. However, this mechanism has not received enough attention compared with that of hormones receptors and synthetase. Recently, we have explored the interaction between EDCs and sex hormone-binding globulin of human (hSHBG). In this study, interactions between EDCs and sex hormone-binding globulin of eight fish species (fSHBG) were investigated by employing classification methods and quantitative structure-activity relationships (QSAR). In the modeling, the relative binding affinity (RBA) of a chemical with 17β-estradiol binding to fSHBG was selected as the endpoint. Classification models were developed for two fish species, while QSAR models were established for the other six fish species. Statistical results indicated that the models had satisfactory goodness of fit, robustness and predictive ability, and that application domain covered a large number of endogenous and exogenous steroidal and non-steroidal chemicals. Additionally, by comparing the log RBA values, it was found that the same chemical may have different affinities for fSHBG from different fish species, thus species diversity should be taken into account. However, the affinity of fSHBG showed a high correlation for fishes within the same Order (i.e., Salmoniformes, Cypriniformes, Perciformes and Siluriformes), thus the fSHBG binding data for one fish species could be used to extrapolate other fish species in the same Order.

  11. Choline or CDP-choline attenuates coagulation abnormalities and prevents the development of acute disseminated intravascular coagulation in dogs during endotoxemia.

    PubMed

    Yilmaz, Zeki; Ozarda, Yesim; Cansev, Mehmet; Eralp, Oya; Kocaturk, Meric; Ulus, Ismail H

    2010-06-01

    Sepsis/endotoxemia causes platelet dysfunctions, abnormalities in coagulation and hemostatic mechanisms leading to organ dysfunctions and mortality. Choline prevents organ injury and improves survival during endotoxemia. The main objective of the present study was to determine the effects of choline or cytidine-5'-diphosphocholine (CDP-choline) on endotoxin-induced activation of coagulation and development of disseminated intravascular coagulation (DIC). Dogs were treated intravenously (i.v.) with saline, choline (20 mg/kg), or CDP-choline (70 mg/kg) three times with 4-h intervals starting 5 min before i.v. injection of endotoxin (1 mg/kg). Platelet counts and functions, prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen, coagulation factors, D-dimer and antithrombin (AT) were measured before and at 0.5-96 h after endotoxin. Circulating platelet, fibrinogen, coagulation factors and AT were decreased, whereas PT and aPTT were prolonged and serum D-dimer levels were elevated after endotoxin. Endotoxin-induced reductions in platelet counts and functions, fibrinogen, coagulation factors and AT were attenuated or blocked by choline or CDP-choline. Choline or CDP-choline blocked endotoxin-induced prolongation in PT and aPTT and enhancement in D-dimer. Elevated DIC scores were attenuated by choline and blocked by CDP-choline. Choline administration increased serum choline concentrations and caused bradycardia. Choline also increased choline and acetylcholine contents of circulating mononuclear cells and inhibited radioligand binding to their cholinergic receptors. These data show that choline administration, as choline chloride or CDP-choline, restores the abnormalities in the primary, secondary, and tertiary hemostasis and prevents the development of DIC during experimental endotoxemia in dogs probably by increasing both neuronal and non-neuronal cholinergic activity.

  12. Abnormalities of Endocytosis, Phagocytosis, and Development Process in Dictyostelium Cells That Over-Express Acanthamoeba castellanii Metacaspase Protein

    PubMed Central

    SAHEB, Entsar; TRZYNA, Wendy; MARINGER, Katherine; BUSH, John

    2015-01-01

    Background: Acanthamoeba castellanii forms a resistant cyst that protects the parasite against the host’s immune response. Acanthamoeba Type-I metacaspase (Acmcp) is a caspase-like protein that has been found to be expressed during the encystations. Dictyostelium discoideum is an organism closely related to Acanthamoeba useful for studying the molecular function of this protozoan caspase-like protein. Methods: The full length of Acmcp and a mutated version of the same gene, which lacks the proline rich N-terminal region (Acmcp-dpr), were cloned into the pDneo2a-GFP vector separately. The pDneo2a-GFP-Acmcp and pDneo2a-GFPAcmcp-dpr were electro-transfected into wild type D. discoideum cells to create cell lines that over-expressed Acmcp or Acmcp-dpr. Results: Both cell lines that over-expressed Acmcp and Acmcp-dpr showed a significant increase in the fluid phase internalization and phagocytosis rate compared to the control cells. Additionally, the cells expressing the Acmcp-dpr mutant were unable to initiate early development and failed to aggregate or form fruiting bodies under starvation conditions, whereas Acmcp over-expressing cells showed the opposite phenomena. Quantitative cell death analysis provided additional support for these findings. Conclusion: Acmcp is involved in the processes of endocytosis and phagocytosis. In addition, the proline rich region in Acmcp is important for cellular development in Dictyostelium. Given its important role in the development process, metacaspase protein is proposed as a candidate drug target against infections caused by A. castellanii. PMID:26246819

  13. PCB1254 exposure contributes to the abnormalities of optomotor responses and influence of the photoreceptor cell development in zebrafish larvae.

    PubMed

    Zhang, Xin; Hong, Qin; Yang, Lei; Zhang, Min; Guo, Xirong; Chi, Xia; Tong, Meiling

    2015-08-01

    Polychlorinated biphenyls (PCBs), a group of highly toxic environmental pollutants, have been report to influence the visual system development in children. However, the underlying mechanism is unclear. The study was aim to investigate the effects of continuous PCBs exposure on optomotor response (OMR) and retinal photoreceptor cell development-related gene expression in zebrafish larvae. The fertilized zebrafish embryos were exposed to PCBs at concentrations of 0.125, 0.25, 0.5, and 1mg/L until 7 days post-fertilization. Control groups with blank and 0.01% methanol were also prepared. OMR test was used to detect the visual behavior. The mRNA expression of the CRX, RHO, SWS1, and SWS2 was assessed by the Quantitative Real-Time PCR. The OMR test showed that the visual behavior of the larvae was most sensitive when the grating spatial frequency was 0.20LP/mm and the moving speed was 25cm/s. Moreover, the proportion of positively swimming fish was significantly reduced in the 0.5 and 1mg/L PCB1254 treatment group (P<0.05) compared with the controls. In addition, the expression of SWS2 was significantly down-regulated in all PCB1254 treatment groups (P<0.05), whereas the decreased expression of the CRX, RHO and SWS1 was found in the 0.5 and 1mg/L PCB1254 groups (P<0.05). This is the first report to demonstrate that continue exposure of zebrafish larvae to PCBs causes photoreceptor cell development-related gene expression changes that lead to OMR behavioral alterations. Analysis of these visual behavioral paradigms may be useful in predicting the adverse effects of toxicants on visual function in fish.

  14. How to sell safer sex.

    PubMed

    Overs, C

    1991-09-01

    Social and economic factors determine the extent of the sex industry in societies. Despite AIDS, the sex industry will continue to thrive. Accordingly, health promotion strategies aimed at sex workers and their clients should not stem from the belief that the industry should cease to exist. This paper offers advice in developing and implementing programs to promote safer sex among sex workers. The social context is 1 element to consider in planning successful campaigns. Interventions must be combined with well-planned prevention campaigns aimed at entire populations. The opinions and participation of those involved in the industry should also be sought, while worker discussion and action upon other community issues should not be discouraged. Care should be given to target the numerous and diverse sex worker audiences in addition to other persons related to and involved in the industry. Programs should address the main obstacles to practicing safer sex, and attention should be given to ensure the provision of an adequate and regular supply of cheap or free condoms through varied distribution channels. In the area of service provision, sex workers need easy access to social support and health care services from which they are often excluded. Activities conducted around the world include the marketing of safer sex, distributing printed information on HIV and AIDS to clients, training sex workers to pass designated constructive ideas to others involved in the sex industry, referring sex workers to sex businesses supportive of safer sex practices, and developing street theater and cabaret shows in bars.

  15. Temperature- and sex-related effects of serine protease alleles on larval development in the Glanville fritillary butterfly.

    PubMed

    Ahola, V; Koskinen, P; Wong, S C; Kvist, J; Paulin, L; Auvinen, P; Saastamoinen, M; Frilander, M J; Lehtonen, R; Hanski, I

    2015-12-01

    The body reserves of adult Lepidoptera are accumulated during larval development. In the Glanville fritillary butterfly, larger body size increases female fecundity, but in males fast larval development and early eclosion, rather than large body size, increase mating success and hence fitness. Larval growth rate is highly heritable, but genetic variation associated with larval development is largely unknown. By comparing the Glanville fritillary population living in the Åland Islands in northern Europe with a population in Nantaizi in China, within the source of the post-glacial range expansion, we identified candidate genes with reduced variation in Åland, potentially affected by selection under cooler climatic conditions than in Nantaizi. We conducted an association study of larval growth traits by genotyping the extremes of phenotypic trait distributions for 23 SNPs in 10 genes. Three genes in clip-domain serine protease family were associated with larval growth rate, development time and pupal weight. Additive effects of two SNPs in the prophenoloxidase-activating proteinase-3 (ProPO3) gene, related to melanization, showed elevated growth rate in high temperature but reduced growth rate in moderate temperature. The allelic effects of the vitellin-degrading protease precursor gene on development time were opposite in the two sexes, one genotype being associated with long development time and heavy larvae in females but short development time in males. Sexually antagonistic selection is here evident in spite of sexual size dimorphism.

  16. [Development of female-specific AFLP marker CseF783 and its application in genetic sex identification in half-smooth tongue sole (Cynoglossus semilaevis)].

    PubMed

    Ma, Hong-Yu; Chen, Song-Lin; Li, Jing; Tian, Yong-Sheng; Ji, Xiang-Shan; Zhang, Li-Jing

    2009-01-01

    Molecular sex identification is important in studying sex control, sex determination, and all-female breeding in half-smooth tongue sole (Cynoglossus semilaevis). In the present study, a female-specific AFLP marker was isolated from Cynoglossus semilaevis by AFLP technique using the selective primer combination E-ACT/M-CAA. This marker was re-amplified, recovered from the agarose gels, cloned and sequenced. Bioinformatic analysis indicated that the length of the product was 791 bp, and the sequence showed no similarity to any known sequences deposited in the GenBank database using BLASTn. According to the DNA sequence of the female-specific AFLP marker, specific PCR primers were designed and PCR amplification was performed on 100 sex-known individuals of C. semilaevis (50 females and 50 males each). A specific band 324 bp in length was present in all females but absent in all males (except for one male), indicating that the female-specific AFLP marker was successfully converted into female-specific SCAR (sequence characterized amplified regions) marker. The sex analysis of 3-day-old C. semilaevis individuals using this female-specific SCAR marker indicated that the female ratio was 41.7%. The female-specific SCAR marker developed in this study allowed simple, reliable, and rapid molecular sex identification using small amounts of fin tissue without sacrifice of C. semilaevis especially at early stage of development.

  17. Minor components in the sex pheromone of legume podborer: Maruca vitrata development of an attractive blend.

    PubMed

    Downham, M C A; Hall, D R; Chamberlain, D J; Cork, A; Farman, D I; Tamò, M; Dahounto, D; Datinon, B; Adetonah, S

    2003-04-01

    The legume podborer, Maruca vitrata (syn. M. testulalis) (F.) (Lepidoptera: Pyralidae) is a pantropical pest of legume crops. Sex pheromone was collected by gland extraction or trapping of volatiles from virgin female moths originating in India, West Africa, or Taiwan. Analysis by GC-EAG and GC-MS confirmed previously published findings that (E,E)-10,12-hexadecadienal is the most abundant EAG-active component with 2-5% of (E,E)-10,12-hexadecadienol also present. At least one other EAG response was detected at retention times typical of monounsaturated hexadecenals or tetradecenyl acetates, but neither could be detected by GC-MS. Laboratory wind-tunnel bioassays and a field bioassay of blends of (E,E)-10,12-hexadecadienal with (E,E )-10,12-hexadecadienol and a range of monounsaturated hexadecenal and tetradecenyl acetate isomers indicated greatest attraction of males was to those including (E,E)-10,12-hexadecadienol and (E)-10-hexadecenal as minor components. In subsequent trapping experiments in cowpea fields in Benin, traps baited with a three-component blend of (E,E)-10,12-hexadecadienal and these two minor components in a 100:5:5 ratio caught significantly more males than traps baited with the major component alone, either two-component blend, or virgin female moths. Further blend optimization experiments did not produce a more attractive blend. No significant differences in catches were found between traps baited with polyethylene vials or rubber septa, or between lures containing 0.01 and 0.1 mg of synthetic pheromone. Significant numbers of female M. vitrata moths, up to 50% of total catches, were trapped with synthetic blends but not with virgin females. At present there is no clear explanation for this almost unprecedented finding, but the phenomenon may improve the predictive power of traps for population monitoring.

  18. Thymidine Kinase 2 Deficiency-Induced Mitochondrial DNA Depletion Causes Abnormal Development of Adipose Tissues and Adipokine Levels in Mice

    PubMed Central

    Villarroya, Joan; Dorado, Beatriz; Vilà, Maya R.; Garcia-Arumí, Elena; Domingo, Pere; Giralt, Marta; Hirano, Michio; Villarroya, Francesc

    2011-01-01

    Mammal adipose tissues require mitochondrial activity for proper development and differentiation. The components of the mitochondrial respiratory chain/oxidative phosphorylation system (OXPHOS) are encoded by both mitochondrial and nuclear genomes. The maintenance of mitochondrial DNA (mtDNA) is a key element for a functional mitochondrial oxidative activity in mammalian cells. To ascertain the role of mtDNA levels in adipose tissue, we have analyzed the alterations in white (WAT) and brown (BAT) adipose tissues in thymidine kinase 2 (Tk2) H126N knockin mice, a model of TK2 deficiency-induced mtDNA depletion. We observed respectively severe and moderate mtDNA depletion in TK2-deficient BAT and WAT, showing both tissues moderate hypotrophy and reduced fat accumulation. Electron microscopy revealed altered mitochondrial morphology in brown but not in white adipocytes from TK2-deficient mice. Although significant reduction in mtDNA-encoded transcripts was observed both in WAT and BAT, protein levels from distinct OXPHOS complexes were significantly reduced only in TK2-deficient BAT. Accordingly, the activity of cytochrome c oxidase was significantly lowered only in BAT from TK2-deficient mice. The analysis of transcripts encoding up to fourteen components of specific adipose tissue functions revealed that, in both TK2-deficient WAT and BAT, there was a consistent reduction of thermogenesis related gene expression and a severe reduction in leptin mRNA. Reduced levels of resistin mRNA were found in BAT from TK2-deficient mice. Analysis of serum indicated a dramatic reduction in circulating levels of leptin and resistin. In summary, our present study establishes that mtDNA depletion leads to a moderate impairment in mitochondrial respiratory function, especially in BAT, causes substantial alterations in WAT and BAT development, and has a profound impact in the endocrine properties of adipose tissues. PMID:22216345

  19. Abnormal differentiation of dopaminergic neurons in zebrafish trpm7 mutant larvae impairs development of the motor pattern

    PubMed Central

    Decker, Amanda R.; McNeill, Matthew S.; Lambert, Aaron M.; Overton, Jeffrey D.; Chen, Yu-Chia; Lorca, Ramón A.; Johnson, Nicolas A.; Brockerhoff, Susan E.; Mohapatra, Durga P.; MacArthur, Heather; Panula, Pertti; Masino, Mark A.; Runnels, Loren W.; Cornell, Robert A.

    2014-01-01

    Transient receptor potential, melastatin-like 7 (Trpm7) is a combined ion channel and kinase implicated in the differentiation or function of many cell types. Early lethality in mice and frogs depleted of the corresponding gene impedes investigation of the functions of this protein particularly during later stages of development. By contrast, zebrafish trpm7 mutant larvae undergo early morphogenesis normally and thus do not have this limitation. The mutant larvae are characterized by multiple defects including melanocyte cell death, transient paralysis, and an ion imbalance that leads to the development of kidney stones. Here we report a requirement for Trpm7 in differentiation or function of dopaminergic neurons in vivo. First, trpm7 mutant larvae are hypomotile and fail to make a dopamine-dependent developmental transition in swim-bout length. Both of these deficits are partially rescued by the application of levodopa or dopamine. Second, histological analysis reveals that in trpm7 mutants a significant fraction of dopaminergic neurons lack expression of tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis. Third, trpm7 mutants are unusually sensitive to the neurotoxin 1-methyl-4-phenylpyridinium, an oxidative stressor, and their motility is partially rescued by application of the iron chelator deferoxamine, an anti-oxidant. Finally, in SH-SY5Y cells, which model aspects of human dopaminergic neurons, forced expression of a channel-dead variant of TRPM7 causes cell death. In summary, a forward genetic screen in zebrafish has revealed that both melanocytes and dopaminergic neurons depend on the ion channel Trpm7. The mechanistic underpinning of this dependence requires further investigation. PMID:24291744

  20. Abnormal pituitary development and function in three siblings of a Jamaican family: A new syndrome involving the Pit-1 gene

    SciTech Connect

    Sanchez, J.C.; Schiavi, A.; Parks, J.

    1994-09-01

    In 1967 Mckusick et al. reported three siblings in Canada who had combine pituitary hormone deficiencies (CPHD). Since that report there have been several families with multiple affected members who share the common characteristics of autosomal recessive inheritance and clinical expression of pituitary deficiencies at an early age. We report here a CPHD family of Jamaican origin with three affected and two unaffected siblings. The affected siblings have evidence of severe growth failure, growth hormone deficiency, hypothyroidism and variable prolactin deficiency. Recently, in some families with CPHD a defect has been detected in the Pit-1 gene, which encodes a transcription factor involved in the differentiation of the pituitary and the production of growth hormone, TSH and prolactin. We are studying the Pit-1 gene in this family as a candidate gene that may explain the family phenotype. The Pit-1 gene has been analyzed in DNA extracted from blood. No gross deletion were detected in exons 2, 3, 4, 5 and 6 using exon-specific PCR assay developed in our laboratory. Exon 1 is also currently being analyzed. Single stand conformational polymorphism (SSCP) analysis, a screening technique for point mutations within genes, is being used to identify putative base pair changes in the Pit-1 gene. The exon findings will be confirmed using standard DNA sequencing procedures. If a Pit-1 gene is detected, this family would provide a novel presentation, since gonadotropin deficiency appears to be present. Alternatively, this family may represent a mutation on another yet unknown factor involved in normal pituitary development.

  1. Recalled and current gender role behavior, gender identity and sexual orientation in adults with Disorders/Differences of Sex Development.

    PubMed

    Callens, Nina; Van Kuyk, Maaike; van Kuppenveld, Jet H; Drop, Stenvert L S; Cohen-Kettenis, Peggy T; Dessens, Arianne B

    2016-11-01

    The magnitude of sex differences in human brain and behavior and the respective contributions of biology versus socialization remain a topic of ongoing study in science. The preponderance of evidence attests to the notion that sexual differentiation processes are at least partially hormonally mediated, with high levels of prenatal androgens facilitating male-typed and inhibiting female-typed behaviors. In individuals with Disorders/Differences of Sex Development (DSD), hormonal profiles or sensitivities have been altered due to genetic influences, presumably affecting gender(ed) activity interests as well as gender identity development in a minority of the affected population. While continued postnatal androgen exposure in a number of DSD syndromes has been associated with higher rates of gender dysphoria and gender change, the role of a number of mediating and moderating factors, such as initial gender assignment, syndrome severity and clinical management remains largely unclear. Limited investigations of the associations between these identified influences and gendered development outcomes impede optimization of clinical care. Participants with DSD (n=123), recruited in the context of a Dutch multi-center follow-up audit, were divided in subgroups reflecting prenatal androgen exposure, genital appearance at birth and gender of rearing. Recalled childhood play and playmate preferences, gender identity and sexual orientation were measured with questionnaires and semi-structured interviews. Data were compared to those of control male (n=46) and female participants (n=79). The findings support that (a) prenatal androgen exposure has large effects on (gendered) activity interests, but to a much lesser extent on sexual orientation and that (b) initial gender of rearing remains a better predictor of gender identity contentedness than prenatal androgen exposure, beyond syndrome severity and medical treatment influences. Nonetheless, 3.3% of individuals with DSD in our

  2. Same sex, no sex, and unaware sex in neurotoxicology.

    PubMed

    Weiss, Bernard

    2011-10-01

    Males and females of virtually all species differ in how they respond to their environment. Because such differences exist in almost all biological realms, including disease patterns and therapeutic outcomes, they have evoked calls by various bodies to incorporate their assessment in research. Neurobehavioral indices pose special questions because, unlike outwardly visible markers, they are described by complex functional outcomes or subtle alterations in brain structure. These divergent responses arise because they are inscribed in the genome itself and then by endocrine mechanisms that govern sexual differentiation of the brain during development and operate throughout life. Other organ systems that exhibit sex differences include the liver, an important consideration for neurotoxicology because it may process many toxic chemicals differentially in males and females. Despite the scope and pervasiveness of sex differences, however, they are disregarded by much of neurotoxicology research. Males predominate in behavioral experiments, few such experiments study both sexes, some investigators fail to even describe the sex of their subjects, and in vitro studies tend to wholly ignore sex, even for model systems aimed at neurological disorders that display marked sex differences. The public is acutely aware of sex differences in behavior, as attested by its appetite for books on the topic. It closely follows debates about the proportion of women in professions that feature science and mathematics. Neurotoxicology, especially in the domain of laboratory research, will be hindered in its ability to translate its findings into human health measures if it assigns sex differences to a minor role. It must also be sensitive to how such debates are framed. Often, the differences evoking the most discussion are subtle in scope. They do not lend themselves to the typical analyses conducted by experimenters; that is, reliance on mean differences and null hypothesis testing.

  3. Modeling propagation delays in the development of SOMs--a parallel with abnormal brain growth in autism.

    PubMed

    Noriega, Gerardo

    2008-01-01

    Brain overgrowth in early developmental stages of children with autism is well documented. This paper explores the possibility that increases in propagation delays of stimuli and the signals triggered by them, resulting from this overgrowth, may be conducive to the development of poorly structured cortical maps, which may in turn be associated with autistic characteristics. We use a framework based on Self-Organizing Maps (SOMs). Unlike the conventional SOM model that assumes that all neurons in the neighborhood of the neuron closest to a stimulus instantaneously react to it and adjust their weights, we propose a more biologically realistic model that acknowledges delays inherent in the propagation of signals. We show that propagation delays can significantly affect the performance of SOMs. Coverage of stimuli is negatively affected by either an increase in the dilution factor (a parameter in the proposed model that controls the adjustment of responses to overlapping stimuli), or a decrease in propagation speed. For large dilution factors the topological structure of the maps is also compromised. We also demonstrate the model's robustness to different input stimuli layouts and distributions.

  4. Assessment of electron beam-induced abnormal development and DNA