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Journal of Clinical Endocrinology & Metabolism, Vol 43, 92-96, Copyright © 1976 by Endocrine Society

ARTICLES

Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway

S Ulick

The abnormal steroid pattern in an inborn error in aldosterone biosynthesis consists of overproduction of glomerulosa zone 18- hydroxycorticosterone relative to aldosterone. The normal values for the excretory ratio of the major urniary metabolites of these two steroids are presented to provide a basis for the diagnosis of abnormalities in their ratio. The production of glomerulosa zone 18- hydroxycorticosterone relative to aldosterone is remarkably constant over a large range of absolute values, except in the disorder involving the terminal portion of the aldosterone biosynthetic pathway for which the term corticosterone methyl oxidase defect, Type 2, is suggested.


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