Ontogeny and Dynamics of the Gonadal Development, Embryogenesis, and Gestation in < b > < i > Xenotoca eiseni < /i > < /b > (Cyprinodontiformes, Goodeidae)
We characterized the ontogeny and dynamics of gonadal development, embryogenesis, and gestation in captive stocks of the viviparous redtail splitfin, Xenotoca eiseni. Using histology, we showed that gonads were fully differentiated at the time of birth with a male:female sex ratio of 1:1 in the captive stock. External secondary sex features included a modified anal fin and a distinctive orange tail coloration. These features first appeared at 4 weeks after birth and were discriminative for males thereafter. There was no sex-related dichotomy in body size, andX. eiseni reached sexual maturity at approximately 12 weeks of ag...
Source: Sexual Development - September 4, 2020 Category: Biology Source Type: research
Bcl2-Associated X (BAX) Knockout in Mice Resulted in Persistence of Neonatal Testicular Germ Cells (Gonocytes)
During early testicular development, neonatal gonocytes transform into spermatogonial stem cells (SSC), and any untransformed gonocytes are thought to undergo apoptosis. In human cryptorchidism, persisting gonocytes may lead to seminoma. Using Bcl2-associated X knockout (BAXKO) mice, we investigated apoptosis in gonocyte development during mouse minipuberty. Testes from BAXKO, heterozygous (HET), and wild-type (WT) littermates were collected on postnatal days 1, 3, 6, and 9 (n = 6/group), labelled with antibodies against mouse vasa homologue (MVH, germ cell marker) or promyelocytic leukaemia zinc-factor (PLZF, SSC marker) ...
Source: Sexual Development - June 15, 2020 Category: Biology Source Type: research
Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review
Ovotesticular difference of sex development (OT DSD) is a rare genetic disorder with an incidence of about 1/100,000 live births. The majority of OT DSD patients show a 46,XX karyotype, others may have 46,XX/46,XY chimerism or exhibit various mosaic sex chromosome combinations, and less commonly they may have a 46,XY karyotype. The aim of this work is to report the clinical, pathological, and karyotypic variations in OT DSD patients diagnosed among a large cohort of DSD patients. The study included 10 patients thoroughly evaluated for clinical, genital, and hormonal abnormalities and subjected to imaging studies, laparosco...
Source: Sexual Development - June 12, 2020 Category: Biology Source Type: research
Spatiotemporal Expression of < b > < i > Foxl2 < /i > < /b > and < b > < i > Dmrt1 < /i > < /b > before, during, and after Sex Determination in the Sea Turtle < b > < i > Lepidochelys olivacea < /i > < /b >
The sex of sea turtles is determined by temperature during egg incubation. Thus, climate change affects the sex ratio, exacerbating their vulnerability to extinction. Understanding spatiotemporal effects of temperature on sex determination at the gonadal level may facilitate the design of strategies to mitigate the effects of global warming. Here, we used qRT-PCR and immunofluorescence to analyze the spatiotemporal expression ofDmrt1andFoxl2 in developing gonads ofLepidochelys olivacea incubated at male-producing temperature (MPT, 26 °C) or female-producing temperature (FPT, 33°C). Although both transcription factors are...
Source: Sexual Development - May 8, 2020 Category: Biology Source Type: research
< b > < i > NR5A1 < /i > < /b > Gene Variants: Variable Phenotypes, New Variants, Different Outcomes
NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygousNR5A1mutations have been described in people with 46,XY disorders of sex development (DSD). The clinical, endocrine, and genetic features of four 46,XY subjects withNR5A1 genetic variants (2 sisters, 2 boys) from 3 unrelated families are reported. All subjects presented with hypergonadotropic hypogonadism and abnormal pubertal progression. Markers of Sertoli cell function were more affected than those of Leydig cell function. Genetic investigation demonstrated the ...
Source: Sexual Development - May 5, 2020 Category: Biology Source Type: research
Gonadal Dominance and Internal Genitalia Phenotypes of Patients with Ovotesticular Disorders of Sex Development: Report of 22 Cases and Literature Review
In conclusion, OT-DSD is a typical model of unilateral gonadal determinism: the uterus is present on the side of the ovotestis and ovary and the internal genital organs predominantly exhibit female characteristics. However, combined reproductive tract malformation and ovarian function of premature failure are not uncommon.Sex Dev 2019;13:187-194 (Source: Sexual Development)
Source: Sexual Development - April 9, 2020 Category: Biology Source Type: research
Disorders of Sex Development Are an Emerging Problem in French Bulldogs: A Description of Six New Cases and a Review of the Literature
In conclusion, we postulate that the description of the sexual phenotype of DSD females (enlarged clitoris and presence of testicular tissue) does not distinguish between hereditary XX DSD and nonhereditary freemartinism. Cytogenetic and molecular analyses are thus necessary to correctly diagnose such cases. This is especially important for the French bulldog breed, as a rapid increase in its population could spread hereditary DSD.Sex Dev 2019;13:205-211 (Source: Sexual Development)
Source: Sexual Development - March 23, 2020 Category: Biology Source Type: research
Expression Profile of Chicken Sex Chromosome Gene < b > < i > BTF3 < /i > < /b > is Linked to Gonadal Phenotype
In birds, the female is heterogametic (ZW) and the male homogametic (ZZ). The small W chromosome comprises only 28 protein coding genes (homologues to Z chromosome counterparts) and a number of repeat regions. Here, we report our analysis of one of these genes,BTF3 (basic transcription factor 3), which exhibits differential expression during gonadogenesis. We measured RNA levels of both Z and W homologues and BTF3 protein levels in male and female gonads during development of the chicken embryo. In addition,BTF3 RNA and protein levels were compared in female gonads (ovary) and in female gonads following treatment to induce...
Source: Sexual Development - March 10, 2020 Category: Biology Source Type: research
Transcriptomic Analysis of < b > < i > MAP3K1 < /i > < /b > and < b > < i > MAP3K4 < /i > < /b > in the Developing Marsupial Gonad
This study suggests that MAP3K1 can be influenced by exogenous oestrogens during gonadal differentiation in this marsupial.Sex Dev 2019;13:195-204 (Source: Sexual Development)
Source: Sexual Development - January 31, 2020 Category: Biology Source Type: research
Novel < b > < i > NR5A1 < /i > < /b > Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development
In conclusion, we recommend screening forNR5A1pathogenic variants in individuals with features of 46,XY DSD for better diagnosis and management.Sex Dev 2019;13:178-186 (Source: Sexual Development)
Source: Sexual Development - January 31, 2020 Category: Biology Source Type: research
A Systematic Review of Core Outcomes for Hypospadias Surgery
Although the outcome of hypospadias surgery requires careful scrutiny, there is little consensus on what clinical outcome parameters should be considered essential as part of routine clinical practice. To understand the extent of variation in reported outcome measures, Pubmed was searched to identify outcomes in boys with hypospadias published in the English language from 2008 to 2017. Eligibility criteria were met in 268 publications. Outcomes were inconsistently reported and only 9 (13%) were reported in more than 25% of papers. Outcome studies describing younger boys were overrepresented. Urethrocutaneous fistula was re...
Source: Sexual Development - December 19, 2019 Category: Biology Source Type: research
45,X/46,X,i(Yp): Importance of Assessment and Support during Puberty and Adolescence
We describe a detailed evolution of puberty in a boy with 45,X/46,X,i(Yp). Array CGH found 2 cell lines, one with i(Yp) and the other with monosomy X. Genetic analysis of currently known genes involved in Kallmann syndrome/normosomic central hypogonadotropic hypogonadism showed no abnormality. The patient presented with a pubertal course suggestive of a delayed puberty with gynecomastia, reduced growth rate, and infertility that need testosterone treatment to induce the appearance of the secondary sex characteristics. This patient shows the potential effects of i(Yp) and emphasizes the importance of appropriate management ...
Source: Sexual Development - July 2, 2019 Category: Biology Source Type: research
A Search for Sex-Linked Loci in the Agamid Lizard, Calotes versicolor
The Indian garden lizard,Calotes versicolor, lacks cytologically recognizable sex chromosomes, and its mechanism of sex determination is unclear. We evaluated genotype-to-sex-phenotype association using RAD-seq in wild-caught males and females, 30 of each sex. Of 210,736 unique, 96-nt long RAD-tags, 48% contained polymorphisms, 23% of which were present in at least 40 of 60 individuals. Twenty one RAD-tags neared, but none achieved, the inclusion criteria for sex enrichment, as expected ifC. versicolor lacks highly differentiated sex chromosomes. Three RAD-tags with alleles most strongly associated with sex tended to be he...
Source: Sexual Development - June 27, 2019 Category: Biology Source Type: research
A Search for Sex-Linked Loci in the Agamid Lizard, < b > < i > Calotes versicolor < /i > < /b >
The Indian garden lizard,Calotes versicolor, lacks cytologically recognizable sex chromosomes, and its mechanism of sex determination is unclear. We evaluated genotype-to-sex-phenotype association using RAD-seq in wild-caught males and females, 30 of each sex. Of 210,736 unique, 96-nt long RAD-tags, 48% contained polymorphisms, 23% of which were present in at least 40 of 60 individuals. Twenty one RAD-tags neared, but none achieved, the inclusion criteria for sex enrichment, as expected ifC. versicolor lacks highly differentiated sex chromosomes. Three RAD-tags with alleles most strongly associated with sex tended to be he...
Source: Sexual Development - June 27, 2019 Category: Biology Source Type: research
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism
In this study, we analyzed the entire coding sequence of these genes in 7 dogs (78,XY) with ambiguous external genitalia (hypospadias, cryptorchidism, bifid scrotum, or rudimentary penis). The most common disorder was hypospadias (6 cases), followed by cryptorchidism (4 cases). The co-occurrence of both abnormalities was observed in 3 dogs. Polymorphisms were found inMAMLD1(3 SNPs),SRD5A2 (5 SNPs), andAR (2 STRs and 1 SNP), whileSRY was monomorphic. However, the distribution of the polymorphic variants in the DSD dogs and 11 control XY dogs did not differ significantly. Our study suggests that an association between the po...
Source: Sexual Development - May 6, 2019 Category: Biology Source Type: research
