Congenital adrenal hyperplasia

Revision as of 19:28, 26 February 2020 by Sabedi (talk | contribs) (→‎Background)

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
  • Although congenital adrenal hyperplasia is part of the normal neonatal screening, results might not be available for 3 to 4 weeks.

Clinical features/evaluation

Work-Up

Differential Diagnosis

  • Adrenal salt-wasting crisis

Sick Neonate

THE MISFITS [1]

Management

  1. NS 10-20mL/kg bolus 0.9% saline solution or 5% dextrose in normal saline
    • Hypotonic saline or 5% dextrose without addition of NS should not be used as can worsen hyponatremia
  2. Steroid replacement
    • Neonates: Hydrocortisone 25mg IV/IO
    • Obtain blood sample for steroid hormone measurement
      • Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency prior to administering hydrocortisone
  3. Hypoglycemia
    • If significant hypoglycemia, given IV bolus 5-10mL/kg of 10% dextrose (0.5-1.0 g/kg) or 2-4mL/kg of 25% dextrose (D25) infused slowly at rate of 2-3 mL/min
  4. Hyperkalemia

Disposition

  • Admit

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.