Difference between revisions of "Congenital adrenal hyperplasia"

(Created page with "==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 ...")
 
(Clinical features/evaluation)
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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
  
Line 14: Line 14:
 
*Bedside glucose
 
*Bedside glucose
 
*Chemistry
 
*Chemistry
**Hyponatremia
+
**[[Hyponatremia]]
**Hyperkalemia - rarely causes cardiac dysfunction
+
**[[Hyperkalemia]] - rarely causes cardiac dysfunction
  
==DDx==
+
==Differential Diagnosis==
 
*Adrenal salt-wasting crisis
 
*Adrenal salt-wasting crisis
#Sepsis
 
#Congenital heart disease
 
#Inborn errors of metabolism
 
  
==Treatment==
+
{{Sick neonate DDX}}
#NS 10-20cc/kg bolus
+
 
#Steroid replacement
+
==Management==
##Neonates: Hydrocortisone 25mg IV/IO
+
#[[NS]] 10-20cc/kg bolus
#Hyperkalemia
+
#[[Steroid]] replacement
##Do NOT give insulin/glucose (may lead to profound hypoglycemia)
+
#*Neonates: [[Hydrocortisone]] 25mg IV/IO
##NS and hydrocortisone are usually sufficient
+
#[[Hyperkalemia]]
##May add calcium gluconate if symptomatic
+
#*Do NOT give [[insulin]]/glucose (may lead to profound [[Neonatal hypoglycemia|hypoglycemia]])
 +
#*[[NS]] and [[hydrocortisone]] are usually sufficient
 +
#*May add [[calcium gluconate]] if symptomatic
  
 
==Disposition==
 
==Disposition==
 
Admission
 
Admission
  
==Source==
+
==See Also==
Tintinalli
+
*[[Adrenal Crisis]]
 +
 
 +
==References==
 +
<references/>
 +
 
  
[[Category:Peds]]
+
[[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.