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Article

GATA4 gene variants in 46,XY differences of sex development: report of four cases and literature review.

Journal of pediatric endocrinology & metabolism : JPEM - 26 May 2026

Mansó Borràs Maria, Pellicer Viudes Cristina, De Mingo Alemany Carmen, León Cariñena Sara, Jaijo Sanchis Teresa, Moreno Macián Francisca

Abstract excerpt

OBJECTIVES: 46,XY differences of sex development (DSD) comprise a heterogeneous group of congenital conditions affecting chromosomal, gonadal or anatomical sex differentiation. GATA4 is essential for cardiac and gonadal development, although its role in DSD is not fully understood. We report four 46,XY DSD cases with GATA4 variants from our center and performed a literature review. CASE PRESENTATION: Case 1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41832665
DOI: 10.1515/jpem-2025-0612

Genes

GATA4
RET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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