Aldosterone-to-Renin Ratio as a Marker for Disease Severity in 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21 OHD) is classified clinically in decreasing order of severity into salt-wasting, simple-virilizing, and nonclassical forms. Causative mutations in the CYP21A2 gene dictate the degrees of adrenal enzyme defect. Salt-wasting crises due to aldosterone deficiency are clinically apparent in the salt-wasting form but not in other forms of 21 OHD.