GATA4 and disorder of sexual differentiation: The NGS genetic investigation showed a novel and heterozygous variant in the <i>GATA-4</i> gene.<h4>Discussion</h4>In the literature, 26 cases with 46,XY DSD due to the <i>GATA4</i> gene were reported.<h4>Conclusion</h4>The novel variant in the <i>GATA-4</i> gene of our patient was not previously associated with DSD.