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Uncovering Hidden Genetic Contributors to 46,XY Disorders of Sex Development Through Phenotype-Driven Rare Variant Assessment: A Pilot Study.

Genes - 13 Jul 2026

Tang Yijun, Chen Yao, Zhang Qianwen, Tang Jie, Ding Yu, Li Juan, Yu Tingting, Wang Xiumin

Abstract excerpt

BACKGROUND: Despite advances in genetic testing, many 46,XY Disorders of sex development (DSD) cases remain unsolved after whole-exome sequencing (WES). This study intended to explore rare variants in patients with micropenis, cryptorchidism, or hypospadias using bioinformatics analysis to identify potential pathogenic contributors and pathways underlying 46,XY DSD. METHODS: A total of 35 patients with specific...

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PMID: 42510837
DOI: 10.3390/genes17070798
PMCID: PMC13410254

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