In the cohort of 87 patients diagnosed with 46,XY DSD, including 55 patients with 46,XY GD and 32 patients with 46,XY DSD, after ruling out LHCGR, AR, CYP17A1, HSD17B3, HSD3B2, and SRD5A2 gene defects, there were 17 patients with the “P” or “LP” mutation of DHX37 gene, with a mutation frequency of 19.54% (17/87). This evidence concerns the gene SRD5A2 and disorder of sexual differentiation.