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Article

Functional and transcriptomic insights into 46,XY disorders of sex development associated with NR5A1 gene variants.

Biology of sex differences - 9 Jun 2026

Liu Qingxu, Zang Shaolian, Li Yan, Yin Xiaoqin, Li Pin

Abstract excerpt

BACKGROUND: NR5A1 encodes a transcription factor essential for adrenal and gonadal development. Gene variants are a known cause of heterogeneous 46,XY disorders of sex development (DSD), but the mechanisms underlying the phenotypic variability remain unclear. We investigated how different NR5A1 variants affect downstream gene regulation and contribute to DSD pathogenesis. METHODS: We analyzed four naturally...

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Identifiers

PMID: 42260572
DOI: 10.1186/s13293-026-00939-0
PMCID: PMC13471489

Genes

NR5A1
AMHR2
STARD8
CYP11A1
CYP17A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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