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Apparent mineralocorticoid excess

J W Funder1

  • 1Baker Medical Research Institute, Victoria, Australia.

Endocrinology and Metabolism Clinics of North America
|September 1, 1995
PubMed
Summary
This summary is machine-generated.

Apparent mineralocorticoid excess is a genetic disorder causing hypertension due to impaired cortisol metabolism. Mutations in the 11 beta-hydroxysteroid dehydrogenase 2 gene explain this rare condition.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Apparent mineralocorticoid excess (AME) is a rare congenital disorder.
  • Characterized by sodium retention, hypertension, and suppressed renin/aldosterone.
  • Normal cortisol levels but abnormal urinary cortisol/cortisone metabolite ratios.

Purpose of the Study:

  • To investigate the genetic basis of apparent mineralocorticoid excess.
  • To identify mutations in the 11 beta-hydroxysteroid dehydrogenase 2 (11β-HSD2) gene.

Main Methods:

  • Analysis of urinary cortisol and cortisone metabolites.
  • Genetic sequencing of the 11β-HSD2 gene.

Main Results:

  • Patients exhibited significantly reduced or absent 11β-HSD2 enzyme activity.

Related Experiment Videos

  • Mutations in the 11β-HSD2 gene were identified in affected individuals.
  • Genetic defects confirm the role of 11β-HSD2 in AME pathogenesis.

    • Conclusions:

    • Reduced 11β-HSD2 activity, caused by gene mutations, is the primary cause of apparent mineralocorticoid excess.
    • This enzyme is crucial for inactivating cortisol in the kidney.
    • Genetic identification of mutations aids in diagnosing and understanding AME.