Concolino Concolino P P Costella Costella A A Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: a comprehensive focus on 233 pathogenic variants of CYP21A2 gene Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: a comprehensive focus on 233 pathogenic variants of CYP21A2 gene Mol Diagn Ther Mol Diagn Ther 2018 2018 22 22 261 261 80 80 10.1007/s40291-018-0319-y 10.1007/s40291-018-0319-y 29450859 29450859. The gene discussed is CYP21A2; the disease is classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.