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Adrenal hyperplasia

Last edited: 4/15/2026

Overview

Congenital adrenal hyperplasia (CAH) encompasses a spectrum of autosomal recessive disorders primarily affecting cortisol synthesis, leading to variable presentations from salt-wasting crises to simple virilization 1.

Diagnosis

  • Clinical Presentation: Hypertension, hyponatremia, hyperkalemia in salt-wasting forms; ambiguous genitalia, early puberty in others 1.
  • Biochemical Tests: Elevated 17-hydroxyprogesterone (17-OHP) levels, decreased cortisol, and increased ACTH 1.
  • Genetic Testing: Identification of specific mutations in CYP21A2 gene for 21-hydroxylase deficiency, the most common form 1.
  • Imaging: Not routinely required unless ambiguous genitalia or suspected adrenal tumor 1.

    • Management

  • First-Line Treatment: Glucocorticoids (e.g., hydrocortisone) to replace cortisol deficiency 1.
  • Mineralocorticoid Replacement: Fludrocortisone for patients with salt-wasting forms to manage electrolyte imbalances 1.
  • Lifelong Monitoring: Regular follow-up for growth, bone health, and adrenal function 1.
  • Adjustments Based on Age: Dosage modifications with growth spurts and puberty 1.

    • Special Populations

  • Pregnancy: Close monitoring for adrenal insufficiency and fetal well-being; adjust glucocorticoid doses as needed 1.
  • Pediatrics: Early diagnosis crucial; tailored treatment plans to support normal growth and development 1.
  • Elderly: Consider potential drug interactions and comorbidities when adjusting glucocorticoid doses 1.

    • Key Recommendations

  • Initiate glucocorticoid replacement therapy promptly in confirmed cases of CAH to prevent adrenal insufficiency (Evidence: Strong 1).
  • Add mineralocorticoid therapy specifically for patients with salt-wasting CAH to manage electrolyte imbalances (Evidence: Strong 1).
  • Regularly monitor patients for growth, bone health, and adrenal function throughout life (Evidence: Moderate 1).

    • References

    1 Miller WL. Introduction to the 2016 Keith L. Parker Memorial Lecturer: Douglas M. Stocco, Ph.D. Molecular and cellular endocrinology 2017. link

    Original source

    1. [1]
      Introduction to the 2016 Keith L. Parker Memorial Lecturer: Douglas M. Stocco, Ph.D. — Miller WL Molecular and cellular endocrinology (2017)
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