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Article

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

The Journal of clinical investigation - 1 Sept 1992

Thigpen A E, Davis D L, Milatovich A, Mendonca B B, Imperato-McGinley J, Griffin J E, Francke U, Wilson J D, Russell D W

Abstract excerpt

Two isozymes of steroid 5 alpha-reductase encoded by separate loci catalyze the conversion of testosterone to dihydrotestosterone. Inherited defects in the type 2 isozyme lead to male pseudohermaphroditism in which affected males have a normal internal urogenital tract but external genitalia resembling those of a female. The 5 alpha-reductase type 2 gene (gene symbol SRD5A2) was cloned and shown to contain five...

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Identifiers

PMID: 1522235
DOI: 10.1172/JCI115954
PMCID: PMC329933

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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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Molecular genetics of steroid 5 alpha-reductase 2 deficiency.PMID 1522235Read ↗

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Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.Semantic proximity Read ↗

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Molecular analysis of the 5 alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme.Semantic proximity Read ↗

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