Difference between revisions of "Congenital adrenal hyperplasia"

(Differential Diagnosis)
(Clinical features/evaluation)
(12 intermediate revisions by 4 users not shown)
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*95% of cases due to deficiency of 21-hydroxylase
 
*95% of cases due to deficiency of 21-hydroxylase
 
**Leads to cortisol deficiency, aldosterone deficiency, virilization
 
**Leads to cortisol deficiency, aldosterone deficiency, virilization
*Pts present during 2nd-5th week of life in crisis
+
*Patients present during 2nd-5th week of life in crisis
  
==Diagnosis==
+
==Clinical features/evaluation==
*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 (peds)|dehydration]], [[pediatric shock|shock]]
 
*Salt-wasting
 
*Salt-wasting
**Hyponatremia, hyperkalemia
+
**[[Hyponatremia]], [[hyperkalemia]]
 
*Virilization
 
*Virilization
  
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*Bedside glucose
 
*Bedside glucose
 
*Chemistry
 
*Chemistry
**Hyponatremia
+
**[[Hyponatremia]]
**Hyperkalemia - rarely causes cardiac dysfunction
+
**[[Hyperkalemia]] - rarely causes cardiac dysfunction
  
 
==Differential Diagnosis==
 
==Differential Diagnosis==
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{{Sick neonate DDX}}
 
{{Sick neonate DDX}}
  
==Treatment==
+
==Management==
#NS 10-20cc/kg bolus
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#[[NS]] 10-20cc/kg bolus
#Steroid replacement
+
#[[Steroid]] replacement
##Neonates: Hydrocortisone 25mg IV/IO
+
#*Neonates: [[Hydrocortisone]] 25mg IV/IO
#Hyperkalemia
+
#[[Hyperkalemia]]
##Do NOT give insulin/glucose (may lead to profound hypoglycemia)
+
#*Do NOT give [[insulin]]/glucose (may lead to profound [[Neonatal hypoglycemia|hypoglycemia]])
##NS and hydrocortisone are usually sufficient
+
#*[[NS]] and [[hydrocortisone]] are usually sufficient
##May add calcium gluconate if symptomatic
+
#*May add [[calcium gluconate]] if symptomatic
  
 
==Disposition==
 
==Disposition==
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*[[Adrenal Crisis]]
 
*[[Adrenal Crisis]]
  
==Source==
+
==References==
Tintinalli
+
<references/>
  
[[Category:Peds]]
+
 
[[Category:Endo]]
+
[[Category:Pediatrics]]
 +
[[Category:Endocrinology]]

Revision as of 21:59, 25 August 2019

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

Work-Up

Differential Diagnosis

  • Adrenal salt-wasting crisis

Sick Neonate

THE MISFITS [1]

Management

  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.