Congenital adrenal hyperplasia

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Background

  • 95% of cases due to deficiency of 21-hydroxylase
    • Leads to cortisol deficiency, aldosterone deficiency, virilization
  • Pts present during 2nd-5th week of life in crisis

Diagnosis

  • Pt presents in 2nd week of life in crisis
    • Lethargy, irritability, poor feeding, vomiting, dehydration, shock
  • Salt-wasting
    • Hyponatremia, hyperkalemia
  • Virilization

Work-Up

  • Bedside glucose
  • Chemistry
    • Hyponatremia
    • Hyperkalemia - rarely causes cardiac dysfunction

DDx

  • Adrenal salt-wasting crisis
  1. Sepsis
  2. Congenital heart disease
  3. Inborn errors of metabolism

Treatment

  1. NS 10-20cc/kg bolus
  2. Steroid replacement
    1. Neonates: Hydrocortisone 25mg IV/IO
  3. Hyperkalemia
    1. Do NOT give insulin/glucose (may lead to profound hypoglycemia)
    2. NS and hydrocortisone are usually sufficient
    3. May add calcium gluconate if symptomatic

Disposition

Admission

Source

Tintinalli