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Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.

Hormone research in paediatrics - 1 Jan 2015

Woo Kyu Ha, Cheon Buwon, Kim Ja Hye, Cho Jahyang, Kim Gu-Hwan, Yoo Han-Wook, Choi Jin-Ho

Abstract excerpt

BACKGROUND/AIMS: Heterozygous mutations of NR5A1, which encodes steroidogenic factor 1 (SF1), were identified in patients with 46,XY disorders of sex development (DSD) with normal adrenal function. This study was aimed to identify and functionally characterize mutations of NR5A1 in patients with 46,XY DSD. METHODS: This study included 51 patients from 49 unrelated families with 46,XY DSD. Genomic DNA was...

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PMID: 26139438
DOI: 10.1159/000431324

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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