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Related Experiment Videos

Type 1 aldosterone synthase deficiency presenting in a middle-aged man.

K M Kayes-Wandover1, R E Schindler, H C Taylor

  • 1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9063, USA.

The Journal of Clinical Endocrinology and Metabolism
|March 10, 2001
PubMed
Summary

Aldosterone synthase deficiency, a rare genetic disorder, can manifest in adulthood with hyperkalemia. This condition, caused by CYP11B2 gene mutations, is often linked to childhood failure to thrive.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Aldosterone synthase deficiency, caused by CYP11B2 gene mutations, typically presents in infancy with electrolyte imbalances and failure to thrive.
  • Adults with this condition are generally asymptomatic, making late-onset presentation rare.

Observation:

  • A middle-aged patient presented with hyperkalemia, with a history of failure to thrive in infancy.
  • Biochemical analysis revealed elevated plasma renin activity (PRA) with low serum and urinary aldosterone and its metabolites, alongside normal or slightly elevated 18-hydroxycorticosterone levels.

Findings:

  • The patient was diagnosed with type 1 aldosterone synthase deficiency.
  • Genetic analysis identified a homozygous duplication in the CYP11B2 gene, resulting in an inactive aldosterone synthase enzyme.

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  • Functional studies confirmed the enzyme's complete inactivity due to the identified mutation.

    • Implications:

    • Aldosterone synthase deficiency is an uncommon cause of hyperreninemic hypoaldosteronism presenting in adulthood.
    • Suspicion should be raised in adults with hyperreninemic hypoaldosteronism if there is a history of childhood failure to thrive or no other identifiable cause.
    • This case highlights the importance of considering genetic disorders in atypical presentations of endocrine conditions.