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Article

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

Frontiers in endocrinology - 1 Jan 2026

Li Lele, Mao Di, Li Xiaoqiao, Song Yanning, Ren Xiaoya, Gong Chunxiu

Abstract excerpt

Introduction: NR5A1 variants are among the most frequent monogenic causes of disorders of sex development (DSD). However, genotype-phenotype correlations remain unclear, and oligogenic contributions to variability are underexplored in non-consanguineous Chinese populations. Methods: In this single-center, retrospective cohort study, we evaluated clinical, hormonal, and genetic features of a single-center Chinese...

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Identifiers

PMID: 42661681
DOI: 10.3389/fendo.2026.1832270
PMCID: PMC13518173

Genes

NR5A1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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