Studies on the deficiency of 21-hydroxylation in patients with congenital adrenal hyperplasia.

Abstract

ABSTRACT This study was designed to investigate the degree of 21-hydroxylase deficiency in the pathways leading to production of cortisol and aldosterone in the 2 clinical variants of 21-hydroxylase deficiency—salt-losers and non-salt-losers. Five patients with congenital adrenal hyperplasia resulting from deficiency of 21-hydroxylation were studied: 3 of these patients were salt-losers and the other 2 were non-salt-losers. Three normal volunteers were used as controls. All subjects were studied on an air-conditioned unit under strict metabolic conditions including constant diet and restricted activity, and each received each day 109–120 mEq of sodium. Sodium and potassium were measured in 24-hr urine pools and all sodium losses were replaced. The patients were studied off treatment and again after they had received ACTH intramuscularly, 20 U/m2 of body surface every 12 hr. Plasma progesterone, 17-hydroxyprogesterone and renin activity, aldosterone secretion rate, and urinary 17-hydroxysteroids and 17-ket...