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.

scholarly journals Oligogenic Origin of Differences of Sex Development in Humans

2020 ◽  
Vol 21 (5) ◽  
pp. 1809 ◽  
Author(s):  
Núria Camats ◽  
Christa E Flück ◽  
Laura Audí
Keyword(s):  
Broad Spectrum ◽  
High Throughput Sequencing ◽  
Phenotypic Variability ◽  
Large Network ◽  
Monogenic Disorders ◽  
The Past ◽  
Sex Development ◽  
Underlying Network ◽  
Differences Of Sex Development ◽  
Biological Event

Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion. In the past, much has been learned about human sex development from monogenic disorders/differences of sex development (DSD), but the broad spectrum of phenotypes in numerous DSD individuals remains a conundrum. Currently, the genetic cause of less than 50% of DSD individuals has been solved and oligogenic disease has been proposed. In recent years, multiple genetic hits have been found in individuals with DSD thanks to high throughput sequencing. Our group has been searching for additional genetic hits explaining the phenotypic variability over the past years in two cohorts of patients: 46,XY DSD patients carriers of NR5A1 variants and 46,XY DSD and 46,XX DSD with MAMLD1 variants. In both cohorts, our results suggest that the broad phenotypes may be explained by oligogenic origin, in which multiple hits may contribute to a DSD phenotype, unique to each individual. A search for an underlying network of the identified genes also revealed that a considerable number of these genes showed interactions, suggesting that genetic variations in these genes may affect sex development in concert.

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 [...]

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 Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

2017 ◽  
Vol 3 (1) ◽  
pp. 17 ◽  
Author(s):  
Nurin Aisyiyah Listyasari ◽  
Ardy Santosa ◽  
Achmad Zulfa Juniarto ◽  
Sultana MH Faradz
Keyword(s):  
Quality Of Life ◽  
Disorders Of Sex Development ◽  
Multidisciplinary Management ◽  
Improve Quality ◽  
Gender Assignment ◽  
Androgen Excess ◽  
Comprehensive Management ◽  
Sex Development ◽  
Management Protocol

Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country.Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life.Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and  psychosocial.  Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT) meeting was recorded.Results : From the total 617 DSD cases we found 426 cases (69,04 %) with 46, XY DSD, 117 cases (18,96%) with 46,XX DSD and 74 cases (12%) with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU) with 256 cases (60.09%). As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%). The remaining cases were Androgen Action Disorder (AAD) with 140 cases (32.86%), 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%), Androgen Excess Disorders with 3 cases (2.56%), Defect of Mullerian Development with 19 cases (16,24%), 3 cases (2.56%) of Androgen Excess and 3 cases (2.56%) of 46, XX Gonadal Dysgenesis.Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities.

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