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Article

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Jun 2024

Kırkgöz Tarık, Gürsoy Semra, Acar Sezer, Köprülü Özge, Özkaya Beyhan, Arslan Gülçin, Nalbantoğlu Özlem, Hazan Filiz, Özkan Behzat

Abstract excerpt

OBJECTIVES: Nuclear receptor subfamily 5 group A member 1 (NR5A1) is a transcription factor critical for the development of various organs. Pathogenic variants in NR5A1 are associated with a spectrum of disorders of sex development (DSD). CASE PRESENTATION: A 15-month-old baby, raised as a girl, was referred for genital swelling and ambiguous genitalia. Born to healthy consanguineous parents, the baby had a...

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Identifiers

PMID: 38650427
DOI: 10.1515/jpem-2023-0551

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

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