Evaluation of deficiency of 21-hydroxylation in patients with congenital adrenal hyperplasia.

Congenital adrenal hyperplasia can manifest itself in a variety of clinical and biochemical abnormalities (Bongiovanni and Root, 1963). The salt-losing tendency in some of these patients can be due to the absence of specific enzymes: dehydrogenases or hydroxylases (Bongiovanni and Root, 1963; Ulick et al., 1964; Visser and Cost, 1964). In addition to the impaired production of certain steroids, antagonism by steroids or other compounds could, theoretically, account for the salt-losing tendency (Neher, Meystre, and Wettstein, 1959; Jacobs et al., 1961). The purpose of this study was to discover whether, despite the continuation of steroid therapy, stimulation of the adrenal cortex with ACTH would measure the capacity of the 21-hydroxylase enzyme system to convert steroid precursors to cortisol. This procedure would then support the diagnosis of this type of congenital adrenal hyperplasia, if withdrawal of therapy was considered to be undesirable. This study was also intended to investigate whether the degree of 21-hydroxylase deficiency in the pathway leading to cortisol production could be related to the two clinical variants of 21-hydroxylase deficiency-salt-losers and non-salt-losers.