As early as 1985, a CAH case which had characteristics of both 21-OHD and 17α-hydroxylase deficiency (17-OHD) was reported; however, no mutations were found in the patient in CYP21A2 or CYP17A1, two genes known to underlie these diseases [7]. This evidence concerns the gene CYP17A1 and congenital adrenal hyperplasia.