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Article

Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient.

Annals of Saudi medicine - 1 Jan 2000

Parlak Mesut, Durmaz Erdem, Gursoy Semin, Bircan Iffet, Akcurin Sema

Abstract excerpt

Steroid 5-a reductase type 2 isoenzyme (SRD5A2) deficiency is a male-limited autosomal recessive disorder that results in decreased conversion of testosterone to dihydrotestosterone with various de.gree of incomplete virilization in affected 46, XY infants. No clear genotype-phenotype relationship has been reported till date; moreover, the same mutation can result in considerable heterogeneity in clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disorder of Sex Development, 46,XY

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Source

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Identifiers

PMID: 25266188
DOI: 10.5144/0256-4947.2014.254
PMCID: PMC6074591

Provenance

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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