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Article

NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.

Medicine - 29 Dec 2023

Wei Xianzhen, Li Shan, He Yu

Abstract excerpt

RATIONALE: Disorders/differences of sex development (DSD) include a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is discordant. It involves several variant genes, and one of them is NR5A1. NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and pathogenic mutation in this gene...

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Identifiers

PMID: 38206718
DOI: 10.1097/MD.0000000000036725
PMCID: PMC10754607

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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