Classic Congenital Adrenal Hyperplasia (CAH): Symptoms, Treatment & Long-Term Outlook

What Is Classic CAH?

Classic congenital adrenal hyperplasia is an autosomal recessive disorder caused by 21-hydroxylase deficiency, impairing cortisol and aldosterone synthesis and leading to excess androgen production.

Key Clinical Manifestations

• Adrenal insufficiency: Fatigue, weight loss, hypotension, salt-wasting crises in infants.
• Virilization: Ambiguous genitalia in newborn girls; early puberty, acne, hirsutism, and accelerated growth in both sexes.
• Hypertension: In the rarer 11β-hydroxylase deficiency form.
• Hypoglycemia: Due to cortisol deficiency.

Diagnosis and Treatment

• Newborn screening (17-hydroxyprogesterone) enables early detection.
• Lifelong glucocorticoid replacement (hydrocortisone) to suppress adrenal androgens.
• Mineralocorticoid (fludrocortisone) and salt supplementation for salt-wasting forms.
• Regular monitoring of growth, bone age, hormone levels, and blood pressure.

Long-Term Outlook

With consistent treatment:

• Normal growth and adult height are achievable.
• Fertility is preserved; women may require adjusted dosing during pregnancy.
• Life expectancy approaches that of the general population.

Adherence to medication and multidisciplinary follow-up are critical for optimal outcomes.