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[Clinical and genetic analysis of a child with 46,XX male phenotype due to SOX3 gene duplication].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2026

Wang Xiou, Song Fuying, Liu Ziqin, Wang Pengchao, Du Mu, Song Yi, Huang Shuyue, Chao Bingyan

Abstract excerpt

OBJECTIVE: To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene. METHODS: A 46,XX male patient presented at the Capital Center for Children's Health, Capital Medical University in November 2024 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41621845
DOI: 10.3760/cma.j.cn511374-20250814-00488

Genes

SOX3
SRY

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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