CAH is an autosomal recessive disease, with an overall incidence of 1:9500–1:20,000 newborns, caused by mutations in the genes encoding enzymes for various stages of steroid biosynthesis such as StAR, CYP11A1, CYP11B1, HSD3B2, CYP17A1 (Figure 1) [6,7]. Here, CYP17A1 is linked to congenital adrenal hyperplasia.