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Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.

Andrology - 1 Nov 2015

Shabir I, Khurana M L, Joseph A A, Eunice M, Mehta M, Ammini A C

Abstract excerpt

Deficiency of the 5α-reductase 2 enzyme impairs the conversion of testosterone to dihydrotestosterone (DHT) and differentiation of external genitalia, seminal vesicles and prostate in males. The present study describes the phenotype, genotype and gender identity in a large cohort of patients with 5αRD2. All patients underwent detailed clinical evaluation, hormonal profile, karyotyping and molecular analysis of...

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PMID: 26453174
DOI: 10.1111/andr.12108

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

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