Difference between revisions of "Congenital adrenal hyperplasia"

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==Diagnosis==
 
==Diagnosis==
*Pt presents in 2nd week of life in crisis
+
*Patient presents in 2nd week of life in crisis
 
**Lethargy, irritability, poor feeding, vomiting, dehydration, shock
 
**Lethargy, irritability, poor feeding, vomiting, dehydration, shock
 
*Salt-wasting
 
*Salt-wasting

Revision as of 01:58, 2 July 2016

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

  • Patient 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

Differential Diagnosis

  • Adrenal salt-wasting crisis

Sick Neonate

THE MISFITS [1]

Treatment

  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.