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Article

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.

BMC medical genomics - 29 Apr 2026

Li Cui, Yang Binyu, Li Xu, Zhen Shuai, Liu Xiaogang, Li Pingping, Chen Wei, Wang Xiaoyan, Xue Mei

Abstract excerpt

BACKGROUND: The clinical phenotype and pathogenic mechanism of 46,XY disorders of sex development (DSD) are complex, and several pathogenic variants are identified by next-generation sequencing. However, these variants currently require additional interpretation and validation prior to their application in 46,XY DSD diagnosis and clinical guidance. RESULTS: Here, we identified three genetic variants in two 46,XY...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42057034
DOI: 10.1186/s12920-026-02373-y
PMCID: PMC13274203

Genes

DHX37
NR5A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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