CYP11A1 and Aarskog-Scott syndrome, X-linked: Recently, certain mutations in CYP11A1 have also been found in patients with milder phenotypes indistinguishable from FGD (17, 18); indeed, several studies have reported patients with the combination of a rs6161 (c.940G>A) variant that affects splicing, together with a severe loss-of-function change on the other allele as a cause of PAI presenting in childhood, but with normal or only mildly disrupted gonadal function (18).