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ACTH stimulation studies in two children with isolated hypoaldostaronism and their relatives

In two children with isolated congenital hyperreninaemic hypoaldosteronism, plasma levels of aldosterone (Aldo), corticosterone (B), desoxycorticosterone (DOC), 18-OH-B and 18-OH-DOC were measured before and after an i.v. bolus of 0.25 mg SynacthenR.An 18-dehydrogenase deficiency is clearly demonstrated in pat.1. The normoreninaemic parents (no consanguinity) had plasma values consistent with heterozygosity. The consanguine parents of pat.2. had normal Aldo levels but one asymptomatic sib had steroid levels and plasma renin activity similar to patient values. An impairment of the 18-oxidation system possibly limited to the zona glomerulosa could be postulated.