aldosterone synthase deficiency

aldosterone synthase deficiency
al·dos·ter·one syn·thase de·fi·cien·cy (al-dosґtər-ōn sinґthās) a disorder of steroidogenesis caused by mutations in the CYP11B2 gene (locus: 8q21) that result in a deficiency of aldosterone synthase activity, impairing the biosynthesis of aldosterone and causing salt wasting. It occurs as two types: type I, in which decreased hydroxylation of corticosterone results in corticosterone and deoxycorticosterone accumulation, and type II, in which decreased oxidation of the 18-hydroxy intermediate results in elevated levels of this compound and corticosterone. Called also corticosterone methyl oxidase deficiency.

Medical dictionary. 2011.

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