Patient 1 was a 35-yr-old woman who presented with the simple virilizing form of CAH [p.E351V and exon 6 cluster (p.I236N, p.V237E, and p.M239K) mutations in a compound heterozygote state in the CYP21A2 gene]. Here, CYP21A2 is linked to congenital adrenal hyperplasia.