CHARACTERIZATION OF URINARY STEROIDS IN ADRENAL HYPERPLASIA: ISOLATION OF METABOLITES OF CORTISOL, COMPOUND S, AND DESOXYCORTICOSTERONE FROM A NORMOTENSIVE PATIENT WITH ADRENOGENITAL SYNDROME *

Abstract

The urinary steroid pattern of an untreated normotensive 5.5-year-old boy with congenital virilizing adrenal hyperplasia has been studied. Abnormally large amounts of metabolites of Compound S and of desoxycorticosterone were found. This indicates that hydroxylation at C-11 of the steroid nucleus was impaired. The patient also excreted normal or near normal amounts of tetrahydro F, tetrahydro E, and other metabolites possessing an oxygen grouping at C-ll. This is interpreted to indicate that the patient was capable of hydroxylation at this position when the adrenals were subjected to excessive stimulation by endogenous adrenocorticotropic hormone. Large amounts of metabolites of 17-hydroxyprogesterone were also found. This was interpreted to indicate a relative insufficiency of C-21-hydroxylation when this system was working under a load. When hypertension accompanies the adrenogenital syndrome it probably indicates a defect in hydroxylation at C-ll of the steroid nucleus and resulting excessive manufacture of DOC. A normal blood pressure does not rule out the existence of this defect.