Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders affecting adrenal hormone production, most commonly from 21-hydroxylase deficiency. It ranges from severe forms diagnosed at birth to milder forms presenting in adolescence or adulthood.

Table of Contents

Quick Facts

  • ICD-10: E25.0
  • Inheritance: Autosomal recessive
  • Treatment: Hormone replacement

Types

Classic CAH (severe)

  • Salt-wasting — life-threatening adrenal crisis in newborns
  • Simple virilizing — ambiguous genitalia in girls, early puberty in boys

Non-classic CAH (mild)

May present later with early puberty, irregular periods, infertility, acne, or excess hair.

Diagnosis

  • Newborn screening (covers severe forms)
  • 17-hydroxyprogesterone level
  • ACTH stimulation test
  • Genetic testing

Treatment

  • Glucocorticoid replacement (hydrocortisone in children, longer-acting in adults)
  • Mineralocorticoid (fludrocortisone) for salt-wasting forms
  • Stress-dose steroids during illness or surgery
  • Genital surgery in selected cases (timing controversial)
  • Genetic counseling for families

Related Conditions

Addison's Disease

Other adrenal insufficiency

 Cushing's Syndrome

Opposite — excess cortisol
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.

References

  • Endocrine Society. CAH Clinical Practice Guideline.