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Article

A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.

The Kaohsiung journal of medical sciences - 1 Apr 2012

Tsai Meng-Che, Chou Yen-Yin, Lin Shio-Jean, Tsai Li-Ping

Abstract excerpt

The 5α-reductase type 2 deficiency is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5α-reductase type 2 (SRD5A2) gene. In this disease, defective conversion of testosterone to dihydrotestosterone leads to variable presentations of male ambiguous genitalia during fetal development. The most crucial clinical decision for the affected individual is proper gender assignment;...

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Identifiers

PMID: 22453073
DOI: 10.1016/j.kjms.2011.10.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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