Congenital adrenal hyperplasia

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

1. Adrenal salt-wasting crisis
2. Sepsis
3. Congenital heart disease
4. 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

See Also

• Adrenal Crisis

Source

Tintinalli