GATA4 variants in individuals with a 46,XY Disorder of Sex Development (DSD) may or may not be associated with cardiac defects depending on second hits in other DSD genes

IM de LaPiscina; C de Mingo; S Riedl; A Rodriguez; AV Pandey; M Fernández-Cancio; N Camats; A Sinclair; L Castaño; L Audi; CE Flück

Journal article

GATA4 variants in individuals with a 46,XY Disorder of Sex Development (DSD) may or may not be associated with cardiac defects depending on second hits in other DSD genes

IM de LaPiscina, C de Mingo, S Riedl, A Rodriguez, AV Pandey, M Fernández-Cancio, N Camats, A Sinclair, L Castaño, L Audi, CE Flück

Frontiers in Endocrinology | FRONTIERS MEDIA SA | Published : 2018

DOI: 10.3389/fendo.2018.00142

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Abstract

Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also been recently associated with 46,XY DSD. In this study, we characterized three individuals presenting with 46,XY DSD with or without CHD and GATA4 variants in order to understand the phenotypical variability. We studied one patient presenting CHD and 46,XY gonadal dysgenesis, and two patients with a history of genetically unsolved 46,XY DSD, also known as male primary hypogonadism. Mutation analysis was carried out by candidate gene approach..

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University of Melbourne Researchers

Andrew Sinclair Author

Grants

Awarded by Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Funding Acknowledgements

This work was supported in part by grants from the University of the Basque Country UPV/EHU (IT795-13) to LC, the Instituto de Salud Carlos III (www.isciii.es/; Madrid, Spain) Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER, http://www.ciberer.es/) (U-712) to MF-C, the Agency for Management of University and Research Grants (AGAUR; agaur.gencat.cat), Barcelona, Spain (2009SGR31) to LA, and by the Beatriu de Pinos Fellowship 2014 (BP-B 00145) (AGAUR, Catalonia, Spain), the Instituto de Salud Carlos III (www.isciii.es/; Madrid, Spain) Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER; http://www.ciberer.es/) (U-712) and the private Foundation Bangerter-Rhyner (http://www.bangerter-stiftung.ch), Basel, Switzerland to NC. IL is supported by a personal research fellowship from the Spanish Pediatric Endocrine Society.