Absence of 21-Dehydroxylation in Congenital Adrenal Hyperplasia*

Hydrocortisonc-4-C14 was administered intravenously to a patient with congenital adrenal hyperplasia who excreted large amounts of C-21 deoxyhydrocortisone metabolites in his urine. By the reverse isotope dilution technique, it was found that 3α:,17α-dihydroxyprcgnanc-11,20-dione, 11-ketoprcgnane-3α, 17α,20α-tetrol and pregnane-3α, 11β,11α,20α-tetrol accounted for less than 0.3 per cent of the radioactivity in the neutral steroid extract of the 24-hour urine following administration. Hydrocortisone-4-C14 administered to a leukemic patient yielded no radioactivity in pregnane-3α,11β,17α,20α-tetrol and 11-ketopregnane-3α,17α,20α-triol added to the neutral steroid extract of the urine during the fourth through sixth hour inclusive following administration. It is concluded that the large amounts of C-21 deoxysteroids present in the urine of patients with congenital adrenal hyperplasia do not arise from hydrocortisone or other C-21 oxygenated hormones. The precursors are C-21 deoxvsteroid hormones.