Molecular Characteristics of Sequence Variants in < b > < i > GATA4 < /i > < /b > in Patients with 46,XY Disorders of Sex Development without Cardiac Defects
In conclusion, it is essential to integrate clinical features and endocrine findings when interpreting sequence variants.Sex Dev (Source: Sexual Development)
Source: Sexual Development - September 25, 2020 Category: Biology Source Type: research

Various Genital and Reproductive Phenotypes in 46,XX/46,XY Chimeras
Tetragametic chimeras are due to the fusion of 2 different zygotes after fertilization. When occurring between embryos of different chromosomal sex, the phenotype ranges from fertile individuals to infertile patients and even to patients with variations in sex development. Here, we report 3 new cases of XX/XY chimeras, one in a young boy carrying an abnormal gonad which turned out to be an ovary and 2 in phenotypically normal infertile men, one of whom had been diagnosed previously as a XX-SRY negative male. These cases highlight the importance of combining several cytogenetic and molecular techniques on different tissues ...
Source: Sexual Development - September 18, 2020 Category: Biology Source Type: research

Persistent M üllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism
Homozygous loss of function mutations in genes encoding anti-M üllerian hormone (AMH) or its receptor (AMHRII) lead to persistent M üllerian duct syndrome (PMDS). PMDS is characterized by the presence of a uterus, fallopian tubes, cervix, and upper vagina in fully virilised 46,XY males. Both surgical management and long-term follow-up of these patients are challenging. Four cases with PMDS presented with cryptorchidism and ingu inal hernia, and laparoscopic inguinal exploration revealed Müllerian remnants. Three of the patients had homozygous mutations in theAMH gene, one with a novel c.1673G>A (p.Gly558A...
Source: Sexual Development - September 18, 2020 Category: Biology Source Type: research

Spectrum of Pathogenic Variants in < b > < i > SRD5A2 < /i > < /b > in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5 α-Reductase 2 Deficiency
In conclusion, pathogenic variants inSRD5A2can be detected in a wide spectrum of Indian patients with 46,XY DSD. Molecular genetic analysis should be considered as a first-line test as the T:DHT ratio lacks specificity and a hotspot variant is present in a vast majority.Sex Dev (Source: Sexual Development)
Source: Sexual Development - September 4, 2020 Category: Biology Source Type: research

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 facto...
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

Polymorphisms of < b > < i > MAMLD1, SRD5A2, < /i > < /b > and < b > < i > AR < /i > < /b > Candidate Genes in Seven Dogs (78,XY; < b > < i > SRY < /i > < /b > -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 5, 2019 Category: Biology Source Type: research

Spatiotemporal Correlations between amh and cyp19a1a Transcript Expression and Apoptosis during Gonadal Sex Differentiation of Pejerrey, Odontesthes bonariensis
In this study, we investigated the spatiotemporal expression patterns ofamh, gonadal aromatase (cyp19a1a), and apoptosis in relation to the histological gradient in ovaries and testes at an intermediate, sexually neutral temperature. The location and timing of expression ofamh,cyp19a1a, and apoptosis seemed to be highly coordinated with the time of gonadal sex differentiation and the histological gradient of gonadal sex differentiation. Apoptosis occurred predominantly in the anterior region of the right gonads and is surmised to be a process to delay differentiation in this area compared to the left gonad, possibly as a m...
Source: Sexual Development - April 3, 2019 Category: Biology Source Type: research

A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent M üllerian Duct Syndrome
We report on a male patient with bilateral undescended gonads, m üllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 ofAMHR2 was detected that supported the clinical diagnosis of PMDS.Sex Dev (Source: Sexual Development)
Source: Sexual Development - April 3, 2019 Category: Biology Source Type: research

A Novel Homozygous < b > < i > AMRH2 < /i > < /b > Gene Mutation in a Patient with Persistent M üllerian Duct Syndrome
We report on a male patient with bilateral undescended gonads, m üllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 ofAMHR2 was detected that supported the clinical diagnosis of PMDS.Sex Dev 2019;13:87-91 (Source: Sexual Development)
Source: Sexual Development - April 1, 2019 Category: Biology Source Type: research

Association Between Extra-Genital Congenital Anomalies and Hypospadias Outcome
Extra-genital congenital anomalies are often present in cases of hypospadias, but it is unclear whether they have an association with the outcome of hypospadias surgery. The aim of this study was to review all hypospadias cases that had surgery between 2009 and 2015 at a single centre and identify clinical determinants of the surgical outcome. An extra-genital congenital anomaly was reported in 139 (22%) boys and 62 (10%) had more than 1 anomaly. Of the 626 boys, 54 (9%), including 44 with proximal hypospadias, had endocrine as well as limited genetic evaluation. Of these, 10 (19%) had a biochemical evidence of hypogonadis...
Source: Sexual Development - March 31, 2019 Category: Biology Source Type: research

Spatiotemporal Correlations between < b > < i > amh < /i > < /b > and < b > < i > cyp19a1a < /i > < /b > Transcript Expression and Apoptosis during Gonadal Sex Differentiation of Pejerrey, < b > < i > Odontesthes bonariensis < /i > < /b >
In this study, we investigated the spatiotemporal expression patterns ofamh, gonadal aromatase (cyp19a1a), and apoptosis in relation to the histological gradient in ovaries and testes at an intermediate, sexually neutral temperature. The location and timing of expression ofamh,cyp19a1a, and apoptosis seemed to be highly coordinated with the time of gonadal sex differentiation and the histological gradient of gonadal sex differentiation. Apoptosis occurred predominantly in the anterior region of the right gonads and is surmised to be a process to delay differentiation in this area compared to the left gonad, possibly as a m...
Source: Sexual Development - March 31, 2019 Category: Biology Source Type: research

Sertoli Cell Number Correlates with Serum Inhibin B in Infant Cryptorchid Boys
Postnatal maturation of Sertoli cells is crucial for male fertility. The aim of this study was to assess the association between the Sertoli cell number per tubule cross-section (SC/T), the serum level of the Sertoli cell-produced inhibin B, and the A-dark spermatogonia number per tubule (Ad/T) in cryptorchid boys. Forty infant cryptorchid boys aged 4-35 months (median: 13 months) were included in the study. During orchiopexy, blood samples for serum inhibin B, luteinizing hormone (LH), and follicle stimulating hormone (FSH) and testicular biopsies were obtained. Histological sections were evaluated by quantitative immunoh...
Source: Sexual Development - March 21, 2019 Category: Biology Source Type: research

Paternity in 5 α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review
In conclusion, the possibility of fatherhood is a main indication for male sex assignment in patients with 5α-reductase-2 defic iency.Sex Dev (Source: Sexual Development)
Source: Sexual Development - March 21, 2019 Category: Biology Source Type: research

A 47,XXY Pregnant Woman without the SRY Gene
Individuals with a 47,XXY karyotype usually present with a male phenotype due to the additional Y chromosome. In this paper, we describe a 47,XXY female who was pregnant with a fetus of the same karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains noSRYgene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc). This region may influence her female phenotype. Fertile females with a 47,XXY karyotype and loss ofSRY are extremely rare. This paper is...
Source: Sexual Development - February 22, 2019 Category: Biology Source Type: research

A 47,XXY Pregnant Woman without the < b > < i > SRY < /i > < /b > Gene
Individuals with a 47,XXY karyotype usually present with a male phenotype due to the additional Y chromosome. In this paper, we describe a 47,XXY female who was pregnant with a fetus of the same karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains noSRYgene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc). This region may influence her female phenotype. Fertile females with a 47,XXY karyotype and loss ofSRY are extremely rare. This paper is...
Source: Sexual Development - February 21, 2019 Category: Biology Source Type: research

Sequence Variants in TBX6 Are Associated with Disorders of the M üllerian Ducts: An Update
M üllerian anomalies comprise the Mayer-Rokitansky-Küster-Hauser syndrome as well as fusion defects of the müllerian ducts. Recurrent micro-aberrations like deletions in 16p11.2 encompassingTBX6 were found to be causative in these patients.TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studies, we and other groups found possibly pathogenic variants inTBX6 in patients with m üllerian anomalies. Since we suggestedTBX6 as a strong candidate, we performed sequential analysis of theTBX6gene in additional 125 patients with m üllerian...
Source: Sexual Development - February 12, 2019 Category: Biology Source Type: research

A Follow-Up from Infancy to Puberty in a Japanese Male with < b > < i > SRY < /i > < /b > -Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in < b > < i > NR5A1 < /i > < /b >
We report the clinical course from infancy to puberty in a Japanese male withSRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation inNR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.Sex Dev (Source: Sexual Development)
Source: Sexual Development - February 8, 2019 Category: Biology Source Type: research

Sequence Variants in < b > < i > TBX6 < /i > < /b > Are Associated with Disorders of the M üllerian Ducts: An Update
M üllerian anomalies comprise the Mayer-Rokitansky-Küster-Hauser syndrome as well as fusion defects of the müllerian ducts. Recurrent micro-aberrations like deletions in 16p11.2 encompassingTBX6 were found to be causative in these patients.TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studies, we and other groups found possibly pathogenic variants inTBX6 in patients with m üllerian anomalies. Since we suggestedTBX6 as a strong candidate, we performed sequential analysis of theTBX6gene in additional 125 patients with m üllerian...
Source: Sexual Development - February 8, 2019 Category: Biology Source Type: research

Is Hormonal Treatment of Congenital Undescended Testes Justified A Debate
Abnormal germ cell development in cryptorchidism is not a result of a congenital dysgenesis but is preceded by a hormone imbalance and perturbation in germ cell-specific gene expression during abrogated mini-puberty. Adequate treatment with low doses of GnRHa enables 86% of men to achieve a normal sperm count and, most importantly, prevent development of azoospermia. GnRHa treatment induces a significant transcriptional response, including protein coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis. Furthermore, hormonal treatment to achieve epididymo-testicul...
Source: Sexual Development - January 31, 2019 Category: Biology Source Type: research

Optimal Management of Undescended Testis in Boys with Cerebral Palsy. A Debate
Cerebral palsy is a rare condition following injury of the developing brain and including nonprogressive neurological disorders, spasticity, intellectual impairment and others. Boys with cerebral palsy have a high incidence of undescended testis. Although the motives for treatment (infertility, cancer prevention, psychological aspects, testicular torsion) are not different in boys without neurological impairment, the decision-making process in boys with cerebral palsy is very difficult. Besides medical and surgical arguments the discussion involves challenging ethical issues.Sex Dev (Source: Sexual Development)
Source: Sexual Development - January 31, 2019 Category: Biology Source Type: research

Is Hormonal Treatment of Congenital Undescended Testes Justified? A Debate
Abnormal germ cell development in cryptorchidism is not a result of a congenital dysgenesis but is preceded by a hormone imbalance and perturbation in germ cell-specific gene expression during abrogated mini-puberty. Adequate treatment with low doses of GnRHa enables 86% of men to achieve a normal sperm count and, most importantly, prevent development of azoospermia. GnRHa treatment induces a significant transcriptional response, including protein coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis. Furthermore, hormonal treatment to achieve epididymo-testicul...
Source: Sexual Development - January 27, 2019 Category: Biology Source Type: research

Surgical Management of Undescended Testis - Timetable and Outcome: A Debate
Around 1.4-3.8% of boys in the Western world are operated because of cryptorchidism. This means that orchidopexy remains one of the most common surgical procedures performed in boys. As a consequence, several consensus reports, guidelines, and reviews dealing with the management of cryptorchidism have been published recently. Based on our research and 30 years' experience with the management of cryptorchidism, the intention of the present publication is to advise on the surgical management and comment on the expected outcome, especially with focus on the controversies related to guidelines and reviews. Except for late refe...
Source: Sexual Development - January 27, 2019 Category: Biology Source Type: research

Management of Undescended Testis: A Debate
Sex Dev (Source: Sexual Development)
Source: Sexual Development - January 21, 2019 Category: Biology Source Type: research

Molecular Sexing of the White-Winged Guan ( < b > < i > Penelope albipennis < /i > < /b > ) and Other Wild Birds of the North of Peru
The use of accurate and reliable techniques for sex determination of wild birds is of special importance in captive breeding programs, especially in birds with monogamous, aggressive behavior, with absence of copulation, and with a low hatching rate. Using PCR, we evaluated the relative efficacy of primers HPF/HPR and CHD1Wr/NP/CHD1Zr in the amplification of the chromo-helicase-DNA binding 1 (CHD1) gene for sex determination inPenelope albipennis and 8 other species of cracids, 4 species of falconids, 4 species of accipitrids, and 3 species of psittacines. Primer effectiveness was compared using previously sexed bird sampl...
Source: Sexual Development - December 21, 2018 Category: Biology Source Type: research

Identification of Candidate Genes for Mayer-Rokitansky-K üster-Hauser Syndrome Using Genomic Approaches
Mayer-Rokitansky-K üster-Hauser (MRKH) syndrome is a disorder of sex development which affects 1 in 4,500 females and is characterized by agenesis of müllerian structures, including the uterus, cervix, and upper vagina. It can occur in isolation (type 1) or in conjunction with various anomalies (type 2), with a subs et of these comprising müllerian, renal, and cervicothoracic abnormalities (MURCS) association. The genetic causes of MRKH have been investigated previously yielding limited results, with massive parallel sequencing becoming increasingly utilized. We sought to identify genetic contributions to MR...
Source: Sexual Development - November 30, 2018 Category: Biology Source Type: research

A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46,XY with SHOX Haploinsufficiency, External Male Genitalia, and Short Stature
In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45,X[20]/46,X,idic(Y)(p11.32)[29]/46,XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere X/Y (CEP X/Y), and short statur...
Source: Sexual Development - November 30, 2018 Category: Biology Source Type: research

Conservation of Ovary-Specific Genes, < b > < i > Foxl2, Aromatase, and Rspo1, < /i > < /b > in the Common Indian Garden Lizard, < b > < i > Calotes versicolor < /i > < /b > , That Lacks Chromosomal or Temperature-Dependent Sex Determination
Foxl2,Rspo1, andAromatase are genes important in the ovary developmental pathway in mammals and birds. Here, we show their presence in the lizard,Calotes versicolor, which is known to lack a chromosomal as well as a temperature-dependent mode of sex determination and has an indeterminate, bipotential gonad throughout embryonic development. The expression of the 3 genes, as well as that ofCvSox9and Wnt4 - the known testis and ovary pathway genes - was studied by RT-PCR and whole tissue RNA in situ hybridization (WRISH) on the developing mesonephros gonadal complex (MGC). The expression of all 3 genes was initiated in the go...
Source: Sexual Development - November 29, 2018 Category: Biology Source Type: research

Contents Vol. 12, 2018
Sex Dev 2018;12:I-IV (Source: Sexual Development)
Source: Sexual Development - November 29, 2018 Category: Biology Source Type: research

Michael Schmid (1948-2018): A Life Devoted to Science
Sex Dev (Source: Sexual Development)
Source: Sexual Development - October 30, 2018 Category: Biology Source Type: research

A Search for Disorders of Sex Development among Infertile Men
In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis.Sex Dev (Source: Sexual Development)
Source: Sexual Development - October 29, 2018 Category: Biology Source Type: research

Thermal Response of Epigenetic Genes Informs Turtle Sex Determination with and without Sex Chromosomes
Vertebrate sexual fate can be established by environmental cues (e.g., temperature-dependent sex determination, TSD) or by genetic content (genotypic sex determination, GSD). While methylation is implicated in TSD, the influence of broader epigenetic processes in sexual development remains obscure. Here, we investigated for the first time the embryonic gonadal expression of the genome-wide epigenetic machinery in turtles, including genes and noncoding RNAs (ncRNAs) involved in DNA/histone acetylation, methylation, ubiquitination, phosphorylation, and RNAi. This machinery was active and differentially thermosensitive in TSD...
Source: Sexual Development - October 5, 2018 Category: Biology Source Type: research

Conservation of Ovary-Specific Genes, Foxl2, Aromatase, and Rspo1, in the Common Indian Garden Lizard, Calotes versicolor, That Lacks Chromosomal or Temperature-Dependent Sex Determination
Foxl2,Rspo1, andAromatase are genes important in the ovary developmental pathway in mammals and birds. Here, we show their presence in the lizard,Calotes versicolor, which is known to lack a chromosomal as well as a temperature-dependent mode of sex determination and has an indeterminate, bipotential gonad throughout embryonic development. The expression of the 3 genes, as well as that ofCvSox9and Wnt4 - the known testis and ovary pathway genes - was studied by RT-PCR and whole tissue RNA in situ hybridization (WRISH) on the developing mesonephros gonadal complex (MGC). The expression of all 3 genes was initiated in the go...
Source: Sexual Development - September 17, 2018 Category: Biology Source Type: research

Meiotic Synapsis and Gene Expression Altered by a Balanced Y-Autosome Reciprocal Translocation in an Azoospermic Pig
Meiotic sex chromosome silencing (MSCS) has been argued as a prerequisite for normal meiotic cell division progression during the synaptic prophase I stage. Furthermore, irregular asynapsis of autosomal axes at meiosis may be encompassing the lack of transcriptional activity normally observed for the X and Y sex chromosomes. Therefore, any chromosomal rearrangement compromising the normal mechanism of MSCS and/or the contrary, the normal meiotic transcriptional activity of autosomal chromosomes, may be observed as a meiotic and concomitant spermatogenesis arrest. Previously, we have described a Y-autosome translocation t(Y...
Source: Sexual Development - September 7, 2018 Category: Biology Source Type: research

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene
This study includes cytogenetics, hormonal, molecular, and bioinformatics analysis including sequencing of theSRY (sex-determining region Y) andAR genes. Mutational analysis in the first case of primary amenorrhea revealed a novel nucleotide substitution (IVS2-2A>G) in the second intron of theAR gene. The mutation is located in the acceptor splice site (2 nucleotides before exon 3) and caused skipping of exon 3 and formation of an abnormal protein. The second mutation (g. 98762_98764delTCT) was identified in a case of oligoamenorrhea and caused the deletion of 1 amino acid (p.#x2206;Phe583). Both identified mutations we...
Source: Sexual Development - September 2, 2018 Category: Biology Source Type: research

Impaired Spermatogenesis due to Small Supernumerary Marker Chromosomes: The Reason for Infertility Is Only Reliably Ascertainable by Cytogenetics
Infertile male with small supernumerary marker chromosomes (sSMCs) were studied. Overall, 37 own patients and 166 cases from the literature were included. sSMCs of our own cases were characterized by multicolor-FISH probe sets. Available clinical data of the infertile males were also evaluated, and meta-analysis on suitability of molecular karyotyping for sSMC characterization was done. As a result, sSMCs can be optimally characterized by single-cell directed (molecular) cytogenetics. In infertile males, sSMCs derive predominantly from one of the acrocentric chromosomes, mainly chromosomes 15, 14, and 22. Interestingly, al...
Source: Sexual Development - August 8, 2018 Category: Biology Source Type: research

Persistent M üllerian Duct Syndrome in a German Shepherd Dog
In this study, we report and characterize a new case of PMDS in a dog excluding that the only mutation hitherto found in theAMHR2 gene is responsible for the observed phenotype.Sex Dev (Source: Sexual Development)
Source: Sexual Development - August 7, 2018 Category: Biology Source Type: research