Another patient (251*), also with severe hypospadias, was found to have two pathogenic variants, one in HSD3B2 (a gene implicated in proximal hypospadias) [44] and the other in a known CHH gene, GNRHR. Finally, in patients with 46,XY DSD of unknown origin we found five with an AR mutation in combination with an additional variant in either androgen action or gonadal development. The gene discussed is AR; the disease is disorder of sexual differentiation.