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Article

In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.

The Journal of steroid biochemistry and molecular biology - 1 Dec 2023

Zhang Wei, Yu Bingging, Luo Wei, Sun Bang, Zhang Xiaoxia, Wang Xi, Mao Jiangfeng, Nie Min, Wu Xueyan

Abstract excerpt

The 5α-reductase type 2 (5α-RD2) deficiency is one of the most common etiology of 46, XY disorders of sex development and is caused by pathogenic variants in SRD5A2. Massively parallel sequencing contributes to identification of numerous novel SRD5A2 variants, in vitro functional study could help to determine their pathogenicity. In this study, we aim to present the functional study of fifteen SRD5A2 variants...

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Identifiers

PMID: 37918676
DOI: 10.1016/j.jsbmb.2023.106421

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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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