The variants identified in the three CAH probands with CYP21A2 mutations included compound heterozygous variants NM_000500:c.293-13C > G and c.518T > A (p.I173N), c.518T > A (p.I173N) and c.844G > T (p.V282l), c.923dup (p.L308Ffs*6), c.955C > T (p.Q319*), and homozygous deletions of CYP21 CH-1. Here, CYP21A2 is linked to congenital adrenal hyperplasia.