The healthy control subjects went through the same genetic exclusion process, resulting in 54 studied subjects (7 subjects harbored CAH mutations in a carrier state, 6 subjects had more than two CYP21A2 gene copies, and CYP21A2 haplotypes were unresolved in 1 subject out of 68 enrolled healthy subjects. The gene discussed is CYP21A2; the disease is congenital adrenal hyperplasia.