Diseases

Apparent Mineralocorticoid Excess Syndrome

A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.

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Classification

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MeSH Record

Synonyms

6 entry terms
  • Cortisol 11-beta-Ketoreductase Deficiency
  • Mineralocorticoid Excess Syndrome, Apparent
  • 11-beta-Ketoreductase Deficiency, Cortisol
  • Cortisol 11 beta Ketoreductase Deficiency
  • Cortisol 11-beta-Ketoreductase Deficiencies
  • Deficiency, Cortisol 11-beta-Ketoreductase

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2004

MeSH Record

Previous Indexing

  • Metabolism, Inborn Errors (1977-2003)

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AMA Style

References

  1. National Library of Medicine. Apparent Mineralocorticoid Excess Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D043204. http://id.nlm.nih.gov/mesh/2026/D043204
  2. Apparent Mineralocorticoid Excess Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Apparent_mineralocorticoid_excess_syndrome
  3. Apparent Mineralocorticoid Excess Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q2065747