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Article

Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.

Asian journal of andrology - 1 Mar 2025

Mao Yu, Huang Jian-Mei, Chen-Zhang Yu-Wei, Lin He, Zhang Yu-Huan, Jiang Ji-Yang, Wu Xue-Mei, Liao Ling, Tang Yun-Man, Yang Ji-Yun

Abstract excerpt

ABSTRACT: This study was conducted retrospectively on a cohort of 68 patients with steroid 5 α-reductase 2 (SRD5A2) deficiency and 46,XY disorders of sex development (DSD). Whole-exon sequencing revealed 28 variants of SRD5A2 , and further analysis identified seven novel mutants. The preponderance of variants was observed in exon 1 and exon 4, specifically within the nicotinamide adenine dinucleotide phosphate...

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Source

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Identifiers

PMID: 39314038
DOI: 10.4103/aja202469
PMCID: PMC11949451

Genes

SRD5A2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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