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Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.

Clinical genetics - 1 Mar 2026

Jing Hui, Wang Zixuan, Mao Yu, Tang Yunman, Chen Yuhan, Cao Li, Chen-Zhang Yuwei, Yang Jiyun

Abstract excerpt

This study investigated genetic causes of 46, XY DSD in 134 Chinese patients via whole-exome sequencing (WES). Clinical data analysis identified 86 rare variants (14 novel, 72 recurrent) across 46, XY DSD-related genes. Following ACMG guidelines, 71 variants were classified as pathogenic/likely pathogenic (P/LP). Affected genes were linked to androgen production/function (63 variants), testicular development...

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3-Oxo-5-alpha-Steroid 4-Dehydrogenase
China
Disorder of Sex Development, 46,XY
East Asian People
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Receptors, Androgen

Steroidogenic Factor 1

Source

Identifiers

PMID: 40976963
DOI: 10.1111/cge.70068

Genes

AR
NR5A1
SRD5A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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