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Article

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.

Journal of clinical research in pediatric endocrinology - 5 Jun 2016

Eren Erdal, Edgünlü Tuba, Asut Emre, Karakaş Çelik Sevim

Abstract excerpt

OBJECTIVE: Deficiency of steroid 5-alpha reductase type 2 (5αRD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene. A defect in the 5-alpha reductase enzyme, which ensures conversion of testosterone into dihydrotestosterone, leads to disorders of sex development. This study presents the clinical and genetic results of patients with 5αRD2 deficiency. METHODS: 5αRD2 deficiency was...

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Source

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Identifiers

PMID: 26761946
DOI: 10.4274/jcrpe.2495
PMCID: PMC5096479

Genes

SRY

Variants

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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