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Related Experiment Videos

17 alpha-hydroxylase deficiency masquerading as primary hyperaldosteronism.

D A Cottrell1, F A Bello, J M Falko

  • 1Department of Internal Medicine, Ohio State University College of Medicine, Columbus.

The American Journal of the Medical Sciences
|December 1, 1990
PubMed
Summary

This case highlights 17 alpha-hydroxylase deficiency presenting as steroid-responsive primary hyperaldosteronism. Glucocorticoid replacement effectively treated hypertension and hypokalemia, crucial for diagnosis.

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • 17 alpha-hydroxylase deficiency (17OHD) is a rare genetic disorder affecting steroidogenesis.
  • It typically presents with hypogonadism and hypertension due to mineralocorticoid precursor accumulation.
  • Primary hyperaldosteronism is usually caused by adrenal adenomas or bilateral hyperplasia.

Observation:

  • A patient initially misdiagnosed for 16 years as testicular feminization and 5 years as primary hyperaldosteronism was studied.
  • Endocrine evaluation revealed elevated progesterone, deoxycorticosterone, and 18-hydroxycorticosterone.
  • Paradoxically, aldosterone levels were inappropriately elevated, unlike typical 17OHD presentations.

Findings:

  • Low levels of 17-hydroxyprogesterone, 11-deoxycortisol, testosterone, and DHEA-Sulfate confirmed 17OHD.

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  • The patient exhibited steroid-responsive primary hyperaldosteronism, a unique phenotype.
  • Glucocorticoid replacement therapy successfully resolved hypertension and hypokalemia.

    • Implications:

    • Accurate diagnosis of 17 alpha-hydroxylase deficiency with steroid-responsive primary hyperaldosteronism is critical.
    • Early recognition allows for timely steroid replacement therapy.
    • This can effectively manage associated hypertension, hypokalemia, and other clinical manifestations.