Congenital adrenal hyperplasia

Background

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

Evaluation

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

Work-Up

Differential Diagnosis

  • Adrenal salt-wasting crisis

Sick Neonate

THE MISFITS [1]

Management

  1. NS 10-20cc/kg bolus
  2. Steroid replacement
  3. Hyperkalemia

Disposition

Admission

See Also

References

  1. Brousseau T, Sharieff GQ. Newborn emergencies: the first 30 days of life. Pediatr Clin North Am. 2006 Feb;53(1):69-84, vi.