Difference between revisions of "Congenital adrenal hyperplasia"

(DDx)
(Differential Diagnosis)
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==Differential Diagnosis==
 
==Differential Diagnosis==
#Adrenal salt-wasting crisis
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*Adrenal salt-wasting crisis
  
 
{{Sick neonate DDX}}
 
{{Sick neonate DDX}}

Revision as of 20:38, 25 March 2015

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

Differential Diagnosis

  • Adrenal salt-wasting crisis

Sick Neonate

THE MISFITS [1]

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

Source

Tintinalli

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