Three of these had a variant in a DSD gene: patients 238 and 239 are twins with hypospadias, both of whom had a WDR11 VUS; patients 112 and 223 (father and son, both with hypospadias) had a novel NR5A1 frameshift mutation; patients 33 and 34 were 46,XY DSD patients with a reported pathogenic variant in SRD5A2 (Additional file 1: Table S1). The gene discussed is SRD5A2; the disease is hypospadias.