Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report

Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report

NR5A1 gene mutations are associated principally to 46,XY DSD (Disorders of Sex Development), with an extensive range of phenotypic variability in patients, comprising gonadal dysgenesis and male infertility. NR5A1 gene plays a crucial role in reproduction, steroidogenesis, and sexual differentiation...

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Bibliographic Details
Main Authors: Antonella Gambadauro, Giorgia Pepe, Celeste Casto, Angelo Tropeano, Carmelo Romeo, Malgorzata Wasniewska
Format: Article
Language:English
Published: Accademia Peloritana dei Pericolanti 2021-08-01
Series:Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
Subjects:
gonadal dysgenesis
nr5a1 gene
dsd
disorders of sex development
Online Access:https://cab.unime.it/journals/index.php/APMB/article/view/3269

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https://cab.unime.it/journals/index.php/APMB/article/view/3269

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