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Article

Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.

Archives of sexual behavior - 1 Jul 2025

Kumar Ajay, Kumar Anil, Rai Seema, Arora Anu, Wander Arvinder, Munshi Anjana

Abstract excerpt

The 5 alpha-reductase deficiency is one of the significant causes of the disorders of sex development (DSD) in individuals bearing 46 XY chromosomes. The conversion of testosterone into dihydrotestosterone is impaired on account of this enzyme deficiency. The mutations in the steroid 5 alpha-reductase type 2 gene (SRD5A2) result in the deficiency of this enzyme. We hereby report three cases of DSD presented in...

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Identifiers

PMID: 40839185
DOI: 10.1007/s10508-025-03197-0

Genes

SRD5A2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.PMID 40839185Read ↗

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