In 125 enrolled subjects with NFAI (Table 1), 12 subjects had CYP21A2 CAH mutations in a carrier state (7 of 12 subjects carried a p.V281L mutation, which causes non-classical CAH in homozygous form) and 7 subjects with more than two CYP21A2 gene copies were observed. This evidence concerns the gene CYP21A2 and congenital adrenal hyperplasia.