Journal of Clinical Endocrinology & Metabolism, Vol 74, 1415-1420, Copyright © 1992 by Endocrine Society

ARTICLES

The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone

S Ulick, JZ Wang and DH Morton
Veterans Affairs Hospital, Bronx, New York 10468.

Two inborn errors in the methyl oxidation of corticosterone to form aldosterone correspond to the two oxygenation-hydroxylation reactions required for this transformation. Both defects are characterized by overproduction of corticosterone of glomerulosa zone origin and deficient synthesis of aldosterone. In the type 1 corticosterone methyl oxidase defect (CMO I) impairment in the first step is reflected in decreased production of 18-hydroxycorticosterone while in CMO II an impaired second step is characterized by overproduction of 18- hydroxycorticosterone leading to an increased 18- hydroxycorticosterone:aldosterone metabolite ratio as a diagnostic index. This metabolite ratio may be increased somewhat in CMO I but not as much as in CMO II. The absolute value of 18-hydroxycorticosterone is a more reliable discriminator as is the corticosterone:18- hydroxycorticosterone metabolite ratio which is increased in CMO I and decreased in CMO II. On the basis of these findings, a North American kindred is reclassified as CMO I making this defect the more prevalent form in the Western Hemisphere. The two biochemical phenotypes will very likely describe different mutations in the gene encoding cytochrome P-450 CMO.

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