46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Neocleous V, Fanis P, Cinarli F, Kokotsis V, Oulas A, Toumba M, Spyrou GM, Phylactou LA, Skordis N. Hormones (Athens). 2019 Sep; 18(3):315-320. Epub 2019 Jun 25.