hrp0097p1-382 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A new GATA-4 mutation in a child with disorder of sex development and central precocious puberty

Luppino Giovanni , Corica Domenico , Valenzise Mariella , Briguglia Silvana , Bertelloni Silvano , Li Pomi Alessandra , Wasniewska Malgorzata , Aversa Tommaso , Christian Denzer , Martin Wabitsch

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...