Methylation Patterns of < b > < i > SOX3, SOX9 < /i > < /b > , and < b > < i > WNT4 < /i > < /b > Genes in Gonads of Dogs with XX ( < b > < i > SRY < /i > < /b > -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 - March 31, 2017 Category: Biology Source Type: research
Sex-Specific Transcript Diversity in the Fly Head Is Established during Pupal Stages and Adulthood and Is Largely Independent of the Mating Process and the Germline
We report that at least 47 genes display sex-specific AS in the adult fly head. Unlike targets of the classicalSex lethal-dependent sex determination cascade, sex-specific isoforms of the vast majority of these genes are not present during larval development but start accumulating during metamorphosis or later, indicating the existence of novel mechanisms in the induction of sex-specific AS. We also established that sex-specific AS in the adult fly head is largely independent of the germline or the mating process. Finally, we investigated the role of sex-specific AS of the sulfotransferaseTango13 pre-mRNA and provide first...
Source: Sexual Development - March 8, 2017 Category: Biology Source Type: research
The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism
45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some disorders of sexual development, there have been few studies focusing on the phenotype and genetic details of 45,X/46,XY mosaicism, especially in the Chinese population. The aim of this study was to describe the experience of our service in relation to 16 cases with 45,X/46,XY mosaicism. The age at the first evaluation of the patients ranged from 43 days to 30 years. Eight patients were reared as female and 8 as male. The main reasons for examination were primary amenorrhea,...
Source: Sexual Development - February 17, 2017 Category: Biology Source Type: research
Leveraging Online Resources to Prioritize Candidate Genes for Functional Analyses: Using the Fetal Testis as a Test Case
With each new microarray or RNA-seq experiment, massive quantities of transcriptomic information are generated with the purpose to produce a list of candidate genes for functional analyses. Yet an effective strategy remains elusive to prioritize the genes on these candidate lists. In this review, we outline a prioritizing strategy by taking a step back from the bench and leveraging the rich range of public databases. This in silico approach provides an economical, less biased, and more effective solution. We discuss the publicly available online resources that can be used to answer a range of questions about a gene. Is the...
Source: Sexual Development - February 14, 2017 Category: Biology Source Type: research
Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene
Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution. We identified a Warmblood horse pedigree segregating AIS, w...
Source: Sexual Development - February 13, 2017 Category: Biology Source Type: research
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia
We report the case of 2 sisters (46,XX) born from consanguineous Moroccan parents. Both sisters had normal female genitalia, but within 2 weeks after birth, they presented with a severe salt-wasting crisis. Hormonal investigations suggested the diagnosis of congenital adrenal hyperplasia, which was confirmed by subsequent molecular analysis to be caused by 3 β-hydroxysteroid dehydrogenase type 2 deficiency. Here, we discuss the main features like onset, possible complications, genetics, and replacement therapy of this rare disease.Sex Dev (Source: Sexual Development)
Source: Sexual Development - February 10, 2017 Category: Biology Source Type: research
Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent M üllerian Duct Syndrome
Anti-m üllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression of müllerian ducts during fetal male sex differentiation. Mutations inAMH andAMHR2 lead to the persistence of m üllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who both had a 46,XY karyotype. The first patient p resented at the age of 2 years. Laparoscopic surgery re...
Source: Sexual Development - February 1, 2017 Category: Biology Source Type: research
Novel < b > < i > AMH < /i > < /b > and < b > < i > AMHR2 < /i > < /b > Mutations in Two Egyptian Families with Persistent M üllerian Duct Syndrome
Anti-m üllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression of müllerian ducts during fetal male sex differentiation. Mutations inAMH andAMHR2 lead to the persistence of m üllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who both had a 46,XY karyotype. The first patient p resented at the age of 2 years. Laparoscopic surgery re...
Source: Sexual Development - January 31, 2017 Category: Biology Source Type: research
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5 α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might be underestimated. In the present study, we describe the clinical characteristics and molecular defects in 3 nonrelated 5α-reductase-2 deficiency patients of Bulgarian de scent. Sequencing analysis revealed the...
Source: Sexual Development - January 20, 2017 Category: Biology Source Type: research
WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome
Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germlineWT1 mutations. TheWT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of theWT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon. Patient 2 carried both c.421A>C and c.424C>T aberrations that le...
Source: Sexual Development - January 13, 2017 Category: Biology Source Type: research
< b > < i > WT1 < /i > < /b > Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome
Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germlineWT1 mutations. TheWT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of theWT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon. Patient 2 carried both c.421A>C and c.424C>T aberrations that le...
Source: Sexual Development - January 12, 2017 Category: Biology Source Type: research
Subject Index Vol. 10, No. 5-6, 2016
Sex Dev 2016;10:346 (Source: Sexual Development)
Source: Sexual Development - December 20, 2016 Category: Biology Source Type: research
Author Index Vol. 10, No. 5-6, 2016
Sex Dev 2016;10:345 (Source: Sexual Development)
Source: Sexual Development - December 20, 2016 Category: Biology Source Type: research
Title Page / Table of Contents
Sex Dev 2016;10:217-220 (Source: Sexual Development)
Source: Sexual Development - December 20, 2016 Category: Biology Source Type: research
Contents Vol. 10, 2016
Sex Dev 2016;10:I-IV (Source: Sexual Development)
Source: Sexual Development - December 20, 2016 Category: Biology Source Type: research
