• Complete enzymatic deficiency of Congenital Adrenal Hyperplasia

Presentation

Signs and Symptoms

• Female:

  • Virilization
  • ambiguous genitalia

  

• Male: often cannot show

• 75% accompanied by aldosterone deficiency: Hypotension ↓(<90/60)

• ID by Ontario Newborn Screening

Management

1. Oral Corticosteroid (OCS)
   • Childhood: Hydrocortisone
   • Adulthood: Dexamethasone
2. • Fludrocortisone if needed

Target:

• Normal range Androgens

Monitor:

• Cushing’s syndrome ↑ SS
• (If using fludrocortisone): BP, Electrolyte