Update on the genetics of differences of sex development (DSD).

Animals Disorders of Sex Development / genetics Female Gonadal Steroid Hormones / biosynthesis High-Throughput Nucleotide Sequencing Humans Male Phenotype Sex Determination Processes
developmental genetics differences of sex development gonadal dysgenesis massively parallel sequencing steroidogenesis

Journal

Best practice & research. Clinical endocrinology & metabolism
ISSN: 1878-1594
Titre abrégé: Best Pract Res Clin Endocrinol Metab
Pays: Netherlands
ID NLM: 101120682

Informations de publication

Date de publication:
06 2019
Historique:
pubmed: 22 4 2019
medline: 18 2 2020
entrez: 22 4 2019
Statut: ppublish

Résumé

Human gonadal development is regulated by the temporospatial expression of many different genes with critical dosage effects. Subsequent sex steroid hormone production requires several consecutive enzymatic steps and functional hormone receptors. Disruption of this complex process can result in atypical sex development and lead to conditions referred to as differences (disorders) of sex development (DSD). With the advent of massively parallel sequencing technologies, in silico protein modeling and innovative tools for the generation of animal models, new genes and pathways have been implicated in the pathogenesis of these conditions. Here, we provide an overview of the currently known DSD genes and mechanisms involved in the process of gonadal and phenotypical sex development and highlight phenotypic findings that may trigger further diagnostic investigations.

Identifiants

DOI: 10.1016/j.beem.2019.04.005 PMID: 31005504
pubmed: 31005504
pii: S1521-690X(19)30014-4
doi: 10.1016/j.beem.2019.04.005
pii:
doi:

Substances chimiques

Gonadal Steroid Hormones 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

101271

Informations de copyright

Copyright © 2019 Elsevier Ltd. All rights reserved.

Auteurs

Dorien Baetens (D)

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium; Division of Pediatric Endocrinology, Department of Internal Medicine and Pediatrics, Ghent University Hospital and Ghent University, Ghent, Belgium.

Hannah Verdin (H)

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.

Elfride De Baere (E)

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.

Martine Cools (M)

Division of Pediatric Endocrinology, Department of Internal Medicine and Pediatrics, Ghent University Hospital and Ghent University, Ghent, Belgium. Electronic address: martine.cools@ugent.be.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Update on the genetics of differences of sex...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Troubles du développement sexuel › Update on the genetics of differences of sex...
questionsmedicales.fr › Hormones gonadiques › Hormones sexuelles stéroïdiennes › Update on the genetics of differences of sex...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Update on the genetics of differences of sex...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Update on the genetics of differences of sex...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Update on the genetics of differences of sex...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Développement sexuel › Processus de détermination du sexe › Update on the genetics of differences of sex...