Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome
Prophylactic gonadectomy in young adult women with complete androgen insensitivity syndrome (CAIS) to avoid development of an invasive testicular germ cell tumor (TGCT) is currently advised in most centers. However, women with CAIS increasingly question the need of this procedure. In order to provide optimal counseling and follow-up of these women, insight in the mechanisms underlying TGCT development in androgen insensitivity syndrome (AIS), data regarding the incidence of TGCT in AIS adults specifically, and an overview of existing and novel screening tools for in situ and invasive neoplastic lesions are crucial. The cur...
Source: Sexual Development - July 18, 2017 Category: Biology Source Type: research
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads
In conclusion, the maintenance of testes may represent a strategy to improve bone health in women with CAIS, but a strict follow-up to monitor the cancer risk is mandatory mainly from their 20s onwards. Optimal sex steroid substitutive therapy in adolescence and adulthood is a key factor to improve BMD status in women with CAIS and removed gonads, but conclusive data on optimal management are lacking.Sex Dev (Source: Sexual Development)
Source: Sexual Development - July 17, 2017 Category: Biology Source Type: research
Effects of N-Nitrosodiethylamine, a Potent Carcinogen, on Sexual Development, Gametogenesis, and Oocyte Maturation
This study investigated the effects of DEN on sexual development, gametogenesis, and oocyte maturation in Japanese medaka (Oryzias latipes). DEN reduced the germ cell number dose-dependently during early stages of sexual differentiation in XX larvae, resulting in underdeveloped ovaries in adulthood at low doses. This effect was sex-specific as no such changes were seen in XY larvae. Furthermore, XX and XY larvae that were exposed at a low dose during early life showed a significant reduction in body weight in adulthood. Gonads in sexually immature adult medaka males and females exposed to DEN were in advanced stages in com...
Source: Sexual Development - June 29, 2017 Category: Biology Source Type: research
Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate
Sex Dev (Source: Sexual Development)
Source: Sexual Development - June 13, 2017 Category: Biology Source Type: research
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
In conclusion, the novel homozygousFSHR variant observed in 2 siblings with HH can expand the spectrum ofFSHRmutations in humans.Sex Dev (Source: Sexual Development)
Source: Sexual Development - June 8, 2017 Category: Biology Source Type: research
A Novel Homozygous Missense < b > < i > FSHR < /i > < /b > Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
In conclusion, the novel homozygousFSHR variant observed in 2 siblings with HH can expand the spectrum ofFSHRmutations in humans.Sex Dev (Source: Sexual Development)
Source: Sexual Development - June 7, 2017 Category: Biology Source Type: research
The Persistent M üllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases
Male sex differentiation is driven by 2 hormones, testosterone and anti-m üllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivatingAMH or its receptorAMHRII lead to the persistent m üllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia. Abnormalitie...
Source: Sexual Development - May 19, 2017 Category: Biology Source Type: research
GnRHa Treatment of Cryptorchid Boys Affects Genes Involved in Hormonal Control of the HPG Axis and Fertility
We report the outcome of an RNA profiling analysis of testicular biopsies from 4 operated patients who were treated with GnRHa for 6 months versus 3 operated controls who were not treated. GnRHa induces a significant transcriptional response, including protein-coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis. Furthermore, we observed an increased abundance of long noncoding RNAs (lncRNAs) participating in epigenetic processes, includingAIRN,FENDRR,XIST, andHOTAIR. These data are consistent with the hypothesis that hypogonadotropic hypogonadism in boys with ...
Source: Sexual Development - May 15, 2017 Category: Biology Source Type: research
Prostaglandin D2 Regulates SOX9 Nuclear Translocation during Gonadal Sex Determination in Tammar Wallaby, Macropus eugenii
Sex determination and sexual differentiation pathways are highly conserved between marsupials and eutherians. There are 2 different pathways of prostaglandin D2 (PGD2) synthesis: prostaglandin D synthase (PTGDS) and haematopoietic prostaglandin D synthase (HPGDS). PGD2 regulates the subcellular localization of SOX9 during gonadal sexual differentiation. To investigate the function of PGD2 in the tammar gonad, we cultured undifferentiated male gonads in the presence of the HPGDS inhibitor HQL-79 and female gonads with exogenous PGD2 to mimic activation of the PTGDS-PGD2 pathway. Tammar PTGDS and HPGDS have only 50% similari...
Source: Sexual Development - May 5, 2017 Category: Biology Source Type: research
Prostaglandin D < sub > 2 < /sub > Regulates SOX9 Nuclear Translocation during Gonadal Sex Determination in Tammar Wallaby, < b > < i > Macropus eugenii < /i > < /b >
Sex determination and sexual differentiation pathways are highly conserved between marsupials and eutherians. There are 2 different pathways of prostaglandin D2 (PGD2) synthesis: prostaglandin D synthase (PTGDS) and haematopoietic prostaglandin D synthase (HPGDS). PGD2 regulates the subcellular localization of SOX9 during gonadal sexual differentiation. To investigate the function of PGD2 in the tammar gonad, we cultured undifferentiated male gonads in the presence of the HPGDS inhibitor HQL-79 and female gonads with exogenous PGD2 to mimic activation of the PTGDS-PGD2 pathway. Tammar PTGDS and HPGDS have only 50% similari...
Source: Sexual Development - May 4, 2017 Category: Biology Source Type: research
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype
We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing ofAR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygousAR mutation and random X- inactivation of the healthy allele. This is the first report of a female patient with 47,XXY karyotype and PAIS phenotype.Sex Dev (Source: Sexual Development)
Source: Sexual Development - April 28, 2017 Category: Biology Source Type: research
Genetic Polymorphisms in Aromatase (cyp19a1) Are Not Associated with Gonadal Phenotypes in Red-Eared Slider Turtle Hatchlings Developed at a Pivotal Temperature
Embryonic gonad sex in many reptilian species is determined by the incubation temperature of the egg, a differentiation process known as temperature-dependent sex determination (TSD). Incubation at the pivotal temperature (PvT) results in approximately an equal number of offspring of both sexes. We investigated the potential contribution of genetic variations that drives the gonadal differentiation into testes or ovaries under this temperature in the red-eared slider turtle (Trachemys scripta). Four male and 4 female hatchlings of eggs that had been incubated at the PvT were examined for polymorphisms at an approximately 2...
Source: Sexual Development - April 27, 2017 Category: Biology Source Type: research
Genetic Polymorphisms in Aromatase ( < b > < i > cyp19a1 < /i > < /b > ) Are Not Associated with Gonadal Phenotypes in Red-Eared Slider Turtle Hatchlings Developed at a Pivotal Temperature
Embryonic gonad sex in many reptilian species is determined by the incubation temperature of the egg, a differentiation process known as temperature-dependent sex determination (TSD). Incubation at the pivotal temperature (PvT) results in approximately an equal number of offspring of both sexes. We investigated the potential contribution of genetic variations that drives the gonadal differentiation into testes or ovaries under this temperature in the red-eared slider turtle (Trachemys scripta). Four male and 4 female hatchlings of eggs that had been incubated at the PvT were examined for polymorphisms at an approximately 2...
Source: Sexual Development - April 26, 2017 Category: Biology Source Type: research
Methylation Patterns of SOX3, SOX9, and WNT4 Genes in Gonads of Dogs with XX (SRY-Negative) Disorder of Sexual Development
Ovotesticular or testicular disorder of sexual development in dogs with female karyotype and lack ofSRY (XX DSD) is a common sexual anomaly diagnosed in numerous breeds. The molecular background, however, remains unclear, and epigenetic mechanisms, including DNA methylation, have not been studied. The aim of our study was comparative methylation analysis of CpG islands in promoters of candidate genes for XX DSD:SOX9,SOX3, andWNT4. Methylation studies were performed on DNA extracted from formalin-fixed/paraffin-embedded or frozen gonads from 2 dogs with ovotesticular and 2 dogs with testicular XX DSD as well as control fema...
Source: Sexual Development - April 3, 2017 Category: Biology Source Type: research
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17 α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated < b > < i > CYP17A1 < /i > < /b > Alleles of Brazilian Patients
In conclusion, oneCYP17A1 mutation (p.Arg362Cys) may share a common ancestry in Brazilian and our present Spanish patients, while p.Trp406Arg may have arisen separately. The elder patient (46,XY) developed a more severe phenotype and a poorer response to estradiol replacement therapy.Sex Dev (Source: Sexual Development)
Source: Sexual Development - April 3, 2017 Category: Biology Source Type: research
