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

Clinical features/evaluation

• Patient presents in 2nd week of life in crisis
  • Lethargy, irritability, poor feeding, vomiting, dehydration, shock
• Salt-wasting
  • Hyponatremia, hyperkalemia
• Virilization
• Partial CAH may present later and less dramatically with irregular menses in adolescence

Work-Up

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

Differential Diagnosis

• Adrenal salt-wasting crisis

Sick Neonate

THE MISFITS

• Trauma
• Heart
  • Congenital heart disease
  • Hypovolemia
• Endocrine
  • hypoglycemia
  • Hypothyroidism
  • Congenital adrenal hyperplasia
• Metabolic
  • Sodium
  • Calcium
  • Glucose
• Inborn errors of metabolism
• Seizure
• Formula / feeding problems
  • Hyponatremia
  • Hypocalcemia
  • FPIES / Food protein-induced enterocolitis syndrome
• Intestinal Disasters
  • Duodenal atresia
  • Midgut volvulus
  • Necrotizing enterocolitis
  • Intussusception
• Toxin
• Sepsis

Management

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

Disposition

• Admit

See Also

• Adrenal Crisis