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  • Title: The effect of ACTH stimulation on plasma steroids in two patients with congenital hypoaldosteronism and in their relatives.
    Author: Drop SL, Frohn-Mulder IM, Visser HK, Sippell WG, Dörr HG, Schöneshöfer M.
    Journal: Acta Endocrinol (Copenh); 1982 Feb; 99(2):245-50. PubMed ID: 6277129.
    Abstract:
    In two children with isolated congenital hyperreninaemic hypoaldosteronism, as well as in their relatives, plasma levels of aldosterone (Aldo), corticosterone (B), deoxycorticosterone (DOC), 18-OH-B and 18-OH-DOC were measured before and after an iv bolus of 0.25 mg Synacthen (Ciba). A corticosterone methyl oxidase deficiency type II was demonstrated in one child. Her normoreninaemic parents (no consanguinity) had plasma values consistent with heterozygosity. The results in the other child and one asymptomatic sib were compatible with a partial corticosterone methyl oxidase deficiency type I. His parents were consanguine but had normal Aldo levels. Overnight dexamethasone administration did not suppress any of the steroids measured except cortisol, suggesting synthesis of these steroids by the zona glomerulosa.
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