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A new form of the syndrome of apparent mineralocorticoid excess

Authors
Journal
Journal of Steroid Biochemistry
0022-4731
Publisher
Elsevier
Publication Date
Volume
32
Issue
1
Identifiers
DOI: 10.1016/0022-4731(89)90166-0
Disciplines
  • Chemistry
  • Design
  • Medicine

Abstract

Abstract The syndrome of apparent mineralocorticoid excess combines the features of unexplained but spironolactone-correctable mineralocorticoid excess in association with a decreased rate of oxidation of Cortisol to cortisone. No relationship was initially implied between the pathogenesis of the disorder and the metabolic disturbance as expressed by an elevated cortisol: cortisone metabolite ratio but the ratio itself has served as a biochemical marker for the disorder. Cortisol has been suggested as the mineralocorticoid in a setting of enhanced sensitivity to the steroid as a result of the incomplete oxidative metabolism of cortisol by the kidney. We present evidence that diminished conversion of cortisol to cortisone is not an obligatory mechanism in the syndrome of apparent mineralocorticoid excess. A form of the disorder is described, designated the Type 2 variant, in which all features are preserved except that the cortisol: cortisone metabolite ratio is normal. An essential feature of both variants, however, is a decrease in the cortisol metabolic clearance rate. These findings require a more generalized definition of the syndrome of apparent mineralocorticoid excess to include other deficient mechanisms of metabolic inactivation of cortisol.

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