Differentiation and Evolution of the W Chromosome in the Fish Species of < b > < i > Megaleporinus < /i > < /b > (Characiformes, Anostomidae)
The W chromosome ofMegaleporinus trifasciatus was isolated in order to analyze its behavior in the karyotype of this and other species of the family, including forms with differentiated and undifferentiated sex chromosomes. The chromosome was microdissected, and the WMt probe was prepared for the chromosome painting procedure.M. trifasciatus was also cross-hybridized (cross-FISH) using existing probes available forM. macrocephalus (WMm) andM. elongatus (WMe). TwoLeporinus species andSemaprochilodus taeniurus, representing a clade close to the Anostomidae, were also cross-hybridized with the objective to better understand t...
Source: Sexual Development - June 7, 2018 Category: Biology Source Type: research
Conserved Domains in the Transformer Protein Act Complementary to Regulate Sex-Specific Splicing of Its Own Pre-mRNA
Thetransformer (tra) gene, which is a female-determining master gene in the houseflyMusca domestica, acts as a memory device for sex determination via its auto-regulatory function, i.e., through the contribution of the TRA protein to female-specific splicing of its own pre-mRNA. The TRA protein contains 4 small domains that are specifically conserved among TRA proteins (domains 1-4). Domain 2, also named TRA-CAM domain, is the most conserved, but its function remains unknown. To examine whether these domains are involved in the auto-regulatory function, we performed in vitro splicing assays using atraminigene containing a ...
Source: Sexual Development - May 29, 2018 Category: Biology Source Type: research
Clitoromegaly in Childhood and Adolescence: Behind One Clinical Sign, a Clinical Sea
The clitoris is a highly complex organ whose structure has only been clarified in recent years through the use of modern imaging techniques. Clitoromegaly is an abnormal enlargement of this organ. It may be congenital or acquired and is usually due to an excess of androgens in fetal life, infancy, or adolescence. Obvious clitoromegaly in individuals with ambiguous genitalia is easily identifiable, whereas borderline conditions can pass unnoticed. Case reports of clitoromegaly with or without clinical or biochemical hyperandrogenism are quite numerous. In these subjects, a comprehensive physical examination and an accurate ...
Source: Sexual Development - May 29, 2018 Category: Biology Source Type: research
Subject Index Vol. 12, No. 1-3, 2018
Sex Dev 2018;12:159 (Source: Sexual Development)
Source: Sexual Development - February 22, 2018 Category: Biology Source Type: research
Author Index Vol. 12, No. 1-3, 2018
Sex Dev 2018;12:158 (Source: Sexual Development)
Source: Sexual Development - February 22, 2018 Category: Biology Source Type: research
Title Page / Table of Contents
Sex Dev 2018;12:1-4 (Source: Sexual Development)
Source: Sexual Development - February 22, 2018 Category: Biology Source Type: research
Normative Basal Values of Hormones and Proteins of Gonadal and Adrenal Functions from Birth to Adulthood
We present a series of tables where we have collected the reference intervals for each specific hormone and protein.Sex Dev 2018;12:46-90 (Source: Sexual Development)
Source: Sexual Development - February 13, 2018 Category: Biology Source Type: research
Endoscopy and Laparoscopy in Disorders of Sex Development
This article reviews clinical indications, limitations, findings, and their reporting. It further discusses the impact of these findings on care in typical clinical situations.Sex Dev (Source: Sexual Development)
Source: Sexual Development - February 7, 2018 Category: Biology Source Type: research
Virtual Networks for Exchanging Information and Biomaterials: Future Directions
Clinical and research networks for rare conditions are increasingly common nowadays. Given the rarity of many such conditions, there is a need to cover more conditions, yet there is also a need to sustain and improve the quality and effectiveness of existing networks. This review will discuss the qualities that are required by a virtual network using some international clinical and research networks that are currently active in the field of rare endocrine conditions affecting sex and adrenal development as exemplars.Sex Dev (Source: Sexual Development)
Source: Sexual Development - February 6, 2018 Category: Biology Source Type: research
Contents Vol. 11, 2017
Sex Dev 2017;11:I-IV (Source: Sexual Development)
Source: Sexual Development - February 6, 2018 Category: Biology Source Type: research
Concluding Remarks - From Bench to Bed
Sex Dev (Source: Sexual Development)
Source: Sexual Development - February 6, 2018 Category: Biology Source Type: research
Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review
We report a sibling pair with 46,XX DSD due to anNR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes. We review and discuss the general role of the R92W mutation in sexual development.Sex Dev 2017;11:284-288 (Source: Sexual Development)
Source: Sexual Development - January 24, 2018 Category: Biology Source Type: research
Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty
Androgen insensitivity syndrome (AIS) is a hereditary condition in patients with a 46,XY karyotype in which loss-of-function mutations of the androgen receptor (AR) gene are responsible for defects in virilization. The aim of this study was to investigate the consequences of the lack of AR activity on germ cell survival and the degree of testicular development reached by these patients by analyzing gonadal tissue from patients with AIS prior to Sertoli cell maturation at puberty. Twenty-three gonads from 13 patients with AIS were assessed and compared to 18 testes from 17 subjects without endocrine disorders. The study of ...
Source: Sexual Development - January 23, 2018 Category: Biology Source Type: research
Phenotypic Variation in 46,XX Disorders of Sex Development due to the < b > < i > NR5A1 < /i > < /b > p.R92W Variant: A Sibling Case Report and Literature Review
We report a sibling pair with 46,XX DSD due to anNR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes. We review and discuss the general role of the R92W mutation in sexual development.Sex Dev 2017;11:284-288 (Source: Sexual Development)
Source: Sexual Development - January 23, 2018 Category: Biology Source Type: research
Improving Laboratory Assessment in Disorders of Sex Development through a Multidisciplinary Network
The aim of the European Reference Network for Rare Endocrine Disorders (Endo-ERN) is to ensure equal access to high-quality care for all those affected by a rare endocrine condition across Europe, such as a disorder/difference of sex development (DSD), both for children and adults. Although differences in resources, health care systems, and health insurances between the European countries are challenging and require political action, a European laboratory network within Endo-ERN could improve the diagnostic process in individuals with DSD, building on the work done by previous European collaborations such as the COST actio...
Source: Sexual Development - January 16, 2018 Category: Biology Source Type: research
