title: Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.
abstract: The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.
authors.affiliation: Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Campinas State University, Campinas, SP, Brazil.
authors.forename: F C
authors.initials: FC
authors.lastname: Soardi
authors.forename: F Borchers
authors.initials: FB
authors.lastname: Coeli
authors.forename: A T
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: G
authors.initials: G
authors.lastname: Guerra-Júnior
authors.forename: M Palandi de
authors.initials: MP
authors.lastname: Mello
mesh_terms: D000293:Adolescent; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009154:Mutation; D054339:Steroidogenic Factor 1 / Q000235:genetics*
chemical_list: D054339:Steroidogenic Factor 1
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