scholarly journals Molecular Aspects of Sex Development in Mammals: New Insight for Practice

2020 ◽  
Vol 21 (23) ◽  
pp. 9146
Author(s):  
Laura Audí ◽  
Silvano Bertelloni ◽  
Christa E. Flück
Keyword(s):  
Sex Development ◽  
Differences Of Sex Development ◽  
Molecular Aspects ◽  
Atypical Development

Disorders (or differences) of sex development (DSD) are congenital conditions characterized by atypical development of genetic, gonadal or phenotypic sex [...]

scholarly journals 46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features

2019 ◽  
Vol 20 (18) ◽  
pp. 4605 ◽  
Author(s):  
Baronio ◽  
Ortolano ◽  
Menabò ◽  
Cassio ◽  
Baldazzi ◽  
...  
Keyword(s):  
Clinical Features ◽  
Human Reproduction ◽  
Androgen Excess ◽  
Post Translational Modifications ◽  
Monogenic Disorders ◽  
Sex Development ◽  
Redox Partners ◽  
Differences Of Sex Development ◽  
Atypical Development ◽  
Sex Disorders

The term ‘differences of sex development’ (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, or anatomical sex. Disorders of steroidogenesis comprise autosomal recessive conditions that affect adrenal and gonadal enzymes and are responsible for some conditions of 46,XX DSD where hyperandrogenism interferes with chromosomal and gonadal sex development. Congenital adrenal hyperplasias (CAHs) are disorders of steroidogenesis that mainly involve the adrenals (21-hydroxylase and 11-hydroxylase deficiencies) and sometimes the gonads (3-beta-hydroxysteroidodehydrogenase and P450-oxidoreductase); in contrast, aromatase deficiency mainly involves the steroidogenetic activity of the gonads. This review describes the main genetic, biochemical, and clinical features that apply to the abovementioned conditions. The activities of the steroidogenetic enzymes are modulated by post-translational modifications and cofactors, particularly electron-donating redox partners. The incidences of the rare forms of CAH vary with ethnicity and geography. The elucidation of the precise roles of these enzymes and cofactors has been significantly facilitated by the identification of the genetic bases of rare disorders of steroidogenesis. Understanding steroidogenesis is important to our comprehension of differences in sexual development and other processes that are related to human reproduction and fertility, particularly those that involve androgen excess as consequence of their impairment.

Recalled and current gender role behavior, gender identity and sexual orientation in adults with Disorders/Differences of Sex Development

2016 ◽  
Vol 86 ◽  
pp. 8-20 ◽  
Author(s):  
Nina Callens ◽  
Maaike Van Kuyk ◽  
Jet H. van Kuppenveld ◽  
Stenvert L.S. Drop ◽  
Peggy T. Cohen-Kettenis ◽  
...  
Keyword(s):  
Sexual Orientation ◽  
Gender Identity ◽  
Gender Role ◽  
Role Behavior ◽  
Sex Development ◽  
Gender Role Behavior ◽  
Differences Of Sex Development

scholarly journals Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

2018 ◽  
Vol 6 (5) ◽  
pp. 785-795 ◽  
Author(s):  
Patrick Sproll ◽  
Wassim Eid ◽  
Camila R. Gomes ◽  
Berenice B. Mendonca ◽  
Nathalia L. Gomes ◽  
...  
Keyword(s):  
Jigsaw Puzzle ◽  
Sex Development ◽  
Differences Of Sex Development

The Interconnected Histories of Endocrinology and Eligibility in Women’s Sport

2018 ◽  
Vol 90 (4) ◽  
pp. 213-220 ◽  
Author(s):  
Alan D. Rogol ◽  
Lindsay Parks Pieper
Keyword(s):  
Female Athletes ◽  
International Association ◽  
Historical Context ◽  
International Olympic Committee ◽  
Elite Sport ◽  
Women's Sport ◽  
Current Effort ◽  
Sex Development ◽  
Differences Of Sex Development

This report illustrates the links between history, sport, endocrinology, and genetics to show the ways in which historical context is key to understanding the current conversations and controversies about who may compete in the female category in elite sport. The International Association of Athletics Federations (IAAF) introduced hyperandrogenemia regulations for women’s competitions in 2011, followed by the International Olympic Committee (IOC) for the 2012 Olympics. The policies concern female athletes who naturally produce higher-than-average levels of testosterone and want to compete in the women’s category. Hyperandrogenemia guidelines are the current effort in a long series of attempts to determine women’s eligibility scientifically. Scientific endeavors to control who may participate as a woman illustrate the impossibility of neatly classifying competitors by sex and discriminate against women with differences of sex development (also called intersex by some).

scholarly journals Pediatric Urologists of Canada (PUC) 2021 position statement: Differences of sex development (AKA disorders of sex development)

2021 ◽  
Vol 15 (12) ◽  
Author(s):  
Rodrigo L.P. Romao ◽  
Luis H. Braga ◽  
Melise Keays ◽  
Peter Metcalfe ◽  
Karen Psooy ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Position Statement ◽  
Sex Development ◽  
Differences Of Sex Development

scholarly journals Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

2020 ◽  
Vol 117 (24) ◽  
pp. 13680-13688 ◽  
Author(s):  
Caroline Eozenou ◽  
Nitzan Gonen ◽  
Maria Sol Touzon ◽  
Anne Jorgensen ◽  
Svetlana A. Yatsenko ◽  
...  
Keyword(s):  
De Novo ◽  
Wilms Tumor ◽  
Testicular Tissue ◽  
Sex Development ◽  
Pathogenic Variants ◽  
Differences Of Sex Development ◽  
Wilms Tumor 1 ◽  
Specific Pathway ◽  
Wt1 Protein ◽  
Antagonistic Interactions

Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD (TDSD) or ovotesticular DSD (OTDSD), testicular tissue is present in the gonad. Although the testis-determining geneSRYis present in many cases, the etiology is unknown in mostSRY-negative patients. We performed exome sequencing on 78 individuals with 46,XX TDSD/OTDSD of unknown genetic etiology and identified seven (8.97%) with heterozygous variants affecting the fourth zinc finger (ZF4) of Wilms’ tumor 1 (WT1) (p.Ser478Thrfs*17, p.Pro481Leufs*15, p.Lys491Glu, p.Arg495Gln [x3], p.Arg495Gly). The variants were de novo in six families (P= 4.4 × 10−6), and the incidence of WT1 variants in 46,XX DSD is enriched compared to control populations (P< 1.8 × 10−4). The introduction of ZF4 mutants into a human granulosa cell line resulted in up-regulation of endogenous Sertoli cell transcripts andWt1Arg495Gly/Arg495GlyXX mice display masculinization of the fetal gonads. The phenotype could be explained by the ability of the mutated proteins to physically interact with and sequester a key pro-ovary factor β-CATENIN, which may lead to up-regulation of testis-specific pathway. Our data show that unlike previous association of WT1 and 46,XY DSD, ZF4 variants of WT1 are a relatively common cause of 46,XX TDSD/OTDSD. This expands the spectrum of phenotypes associated with WT1 variants and shows that the WT1 protein affecting ZF4 can function as a protestis factor in an XX chromosomal context.

37. The Impact of the 2006 Consensus Statement on Medical Discourse on Differences of Sex Development (DSD)

2019 ◽  
Vol 32 (2) ◽  
pp. 209
Author(s):  
Tess I. Jewell ◽  
Rebecca J. Whelan ◽  
Greggor Mattson ◽  
Evangeline M. Heiliger ◽  
Michelle M. Ernst
Keyword(s):  
Consensus Statement ◽  
Medical Discourse ◽  
Sex Development ◽  
Differences Of Sex Development ◽  
The Impact
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