ABSENCE OF 21-DEHYDROXYLATION IN CONGENITAL ADRENAL HYPERPLASIA*

Abstract

Hydrocortisone-4-Cl4 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 3[alpha],17[alpha]-dihy-droxypregnane-ll,20-dione,ll-ketopregnane-3[alpha],17[alpha],20[alpha]-triol and pregnane-3[alpha], 11[alpha],17[alpha],20[alpha] -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-Cl4 administered to a leukemic patient yielded no radioactivity in pregnane-3[alpha],ll[beta],17[alpha],20[alpha]-tetrol and ll-ketopregnane-3[alpha], 17[alpha],20[alpha] -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 deoxysteroid hormones.