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Article

The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.

The Journal of clinical endocrinology and metabolism - 1 Nov 1995

Katz M D, Cai L Q, Zhu Y S, Herrera C, DeFillo-Ricart M, Shackleton C H, Imperato-McGinley J

Abstract excerpt

The biochemical and physiologic manifestations of decreased 5 alpha-dihydrotestosterone (DHT) in females are characterized. Three females from the large Dominican kindred with 5 alpha-reductase-2 deficiency were identified as homozygous for a point mutation (R246W, C-->T) on exon 5 of the 5 alpha-reductase-2 gene by single strand DNA conformational polymorphism analysis and DNA sequence analysis. Body hair was...

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Identifiers

PMID: 7593420
DOI: 10.1210/jcem.80.11.7593420

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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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