Plasma steroids in congenital adrenal hyperplasia

Plasma concentrations of dehydroepiandrosterone, 17-hydroxypregnenolone, Δ⁵- androstenediol, 17-hydroxyprogesterone, progesterone, cortisol and 21-deoxycortisol were measured in 8 patients with the 21-hydroxylase deficiency type of congenital adrenal hyperplasia. In contrast to 17-hydroxyprogesterone, which was elevated as much as 100-fold, the Δ⁵-steroids were elevated only about 2-fold when compared to normal adult values. Plasma progesterone in 3 salt-losing siblings was about 5 times that of the nonsalt-losing subjects. Plasma 21-deoxycortisol averaged about 25 ng/ml, compared to an average of 0.3 ng/ml in normal subjects.