Among the 11 mutations, a duplication including NR0B1 and GK (approximately ChrX:30322539-30749577), c.297 + 2T>C in CYP17A1, and c.2359C>T (p.Arg787*) and c.174_175insTAG (p.Gln59*) in AR have previously been associated with 46,XY DSD. Here, AR is linked to disorder of sexual differentiation.