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Article

The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Simsek Enver, Binay Cigdem, Ceylaner Serdar

Abstract excerpt

Deletions and mutations in the 5-alpha-reductase type 2 (SRD5A2) gene have been identified in 46,XY disorders of sexual differentiation (DSD). The clinical spectrum is heterogeneous, varying from a normal female external genital appearance to clitoromegaly and isolated micropenis or microphallus associated with hypospadias of various degrees. We describe a 46,XY DSD patient with a homozygous c.307C>T (p.R103X)...

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Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Genitalia, Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Gonadal Dysgenesis, 46,XY

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Identifiers

PMID: 22876553
DOI: 10.1515/jpem-2011-0497

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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