Using whole-exome sequencing (WES) in 140 patients with 46,XY DSD, DHX37 mutations were detected in seven (7/140, 5%), with clinical phenotypes involving TRS (five patients), complete gonadal dysplasia (CGD) (one patient), and 46,XY DSD (one patient) (8). The gene discussed is DHX37; the disease is disorder of sexual differentiation.