MECHANISMS ESTABLISHING THE MINERALOCORTICOID HORMONE PATTERNS IN THE 17-ALPHA-HYDROXYLASE DEFICIENCY SYNDROME

The sequential events leading to the final steroid pattern expressed in the untreated patient with 17α-hydroxylase deficiency syndrome (170HDS) is examined. Cessation of suppressive treatment of adrenocorticotropin (ACTH) in four patients with 170HDS resulted in a reemergence of increased amounts of all the major mineralocorticoid hormones: deoxycorticosterone, corticosterone, 18-hydroxy-corticosterone 180HB), and aldosterone. An ACTH-dependent rhythm was established for all mineralocorticoid hormones in the presence of a fixed renin system. A mechanism for suppression of aldosterone and elevation of 180HB in patients with 170HDS is proposed. Expansion of extracellular fluid by all mineralocorticoid hormones suppresses the renin system leading to reduction of aldosterone and 180HB. Further suppression is envisaged through intra-adrenal retardation of 18-hydroxylation, but the final expression of elevated 180HB and reduced aldosterone levels is the combined result of the retained sensitivity of 180HB to ACTH and the impedence of K in the conversion of 180HB to aldosterone. © 1979.