21-alpha-Hydroxylase deficiency

• 90% of affected patients
• Salt-losing form (50-75%)
• Virilizing form
• Males present with premature isosexual development
• Females present with Female Pseudohermaphroditism

Diagnosis:

• CAH should be suspected in any male presenting with FTT or any female with ambiguous genitalia
• Characteristic Lab: Elevated 17-Hydroxyprogesterone

Treatment:

• Glucocorticoid replacement
  • inhibits excessive production of androgens
  • prevents progressive virilization
• In salt-losing variety, treat with mineralocorticoid and sodium supplementation
• Surgical correction
• Outcome:
  • Follow serum 17-OHP, androstenedione, testosterone, renin
  • Classic forms of CAH require treatment with hydrocortisone indefinitely

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