The Unique Patterns of Plasma Aldosterone and 18-Hydroxycorticosterone Concentrations in the 17α-Hydroxylase Deficiency Syndrome*

Deficient 17α-hydroxylation precludes formation of cortisol in the adrenal glands and of sex steroids in the gonads in man, which results in elevated plasma concentrations of deoxycorticosterone (DOC) and corticosterone (B), hypertension, hypokalemia, and suppression of renin and aldosterone production. Subnormal aldosterone levels before and after treatment have suggested an additional enzymatic defect in its formation. To examine this possibility, we studied six patients untreated, on glucocorticoid treatment, and off treatment for short periods of time. To determine the zonal origins of the mineralocorticoid hormones, we measured plasma aldosterone, DOC, B, 18-hydroxycorticosterone (18-OHB), 18-hydroxydeoxycorticosterone, and cortisol along with renin and potassium concentrations at 0800 h and during posture, angiotensin III, and cosyntropin stimulation; after overnight dexamethasone suppressions; and every 4 h during a 24-h period. Elevated DOC (mean ± SEM, 266.7 ± 63.4 ng/dl), B (12,640 ± 3,610 ng/dl...