What question did this study set out to answer?

The study aims to explore the role of GATA4 gene variants in 46,XY differences of sex development (DSD).

March 17, 2026

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

MBMercè BorràsUniversitat de Lleida CVCristina Pellicer ViudesHospital Universitari i Politècnic La Fe CACarmen De Mingo Alemany

Key Points

The study aims to explore the role of GATA4 gene variants in 46,XY differences of sex development (DSD).
Reported four clinical cases of GATA4 variants in individuals with 46,XY DSD.
Conducted a literature review to evaluate the clinical significance of these variants.
Analyzed phenotypic variability and genetic factors affecting gonadal development.
Identified specific GATA4 gene variants associated with 46,XY DSD.
Observed variable expressivity and incomplete penetrance in individuals with GATA4 mutations.
Supported the inclusion of GATA4 in genetic testing for 46,XY DSD.

Abstract

GATA4 should be included in genetic panels for 46,XY DSD. Our work expand the clinical and molecular spectrum of GATA 4-associated 46,XY DSD and our review support the relevance of zinc finger domain variants in gonadal development. Phenotypic variability among carriers supports variable expressivity and incomplete penetrance.

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Cite This Study

Borràs et al. (Sun,) studied this question.

synapsesocial.com/papers/69b8f0fddeb47d591b8c5cc1 https://doi.org/https://doi.org/10.1515/jpem-2025-0612

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