Moreover, in a previously reported case, patient 4, who had a heterozygous missense substitution in SOX9 (NM_000346.3; c.1309C>T; p.(Arg437Cys))13 classified as likely pathogenic, harbored a rare DHX37 variant (NM_032656; c.1283C>T; p.(Pro428Leu)) classified as likely benign, which has not been previously reported in patients with 46,XY DSD (Table 1 and Supplementary Table 1). This evidence concerns the gene SOX9 and disorder of sexual differentiation.