Apparent mineralocorticoid excess (AME) syndrome

Indian Pediatr. 2013 Apr;50(4):416-8. doi: 10.1007/s13312-013-0100-6.

Abstract

Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). Mutations in this gene affect the enzymatic activity resulting to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor leading to inherited hypertension.This is a potentially fatal but treatable disorder. We present clinical and molecular studies on two sisters diagnosed as AME.

Publication types

  • Case Reports

MeSH terms

  • 11-beta-Hydroxysteroid Dehydrogenase Type 2 / genetics
  • Consanguinity
  • Female
  • Humans
  • Infant
  • Mineralocorticoid Excess Syndrome, Apparent / diagnosis*
  • Mineralocorticoid Excess Syndrome, Apparent / enzymology
  • Mineralocorticoid Excess Syndrome, Apparent / genetics
  • Mutation

Substances

  • 11-beta-Hydroxysteroid Dehydrogenase Type 2