Difference between revisions of "Congenital adrenal hyperplasia"

(Management)
 
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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
 +
*Although congenital adrenal hyperplasia is part of the normal neonatal screening, results might not be available for 3 to 4 weeks.
  
==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
 +
*Partial CAH may present later and less dramatically with irregular menses in adolescence
  
 
==Work-Up==
 
==Work-Up==
 
*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]] 10-20mL/kg bolus 0.9% saline solution or 5% dextrose in normal saline
#Hyperkalemia
+
#*Hypotonic saline or 5% dextrose without addition of NS should not be used as can worsen hyponatremia
##Do NOT give insulin/glucose (may lead to profound hypoglycemia)
+
#[[Steroid]] replacement
##NS and hydrocortisone are usually sufficient
+
#*Neonates: [[Hydrocortisone]] 25mg IV/IO
##May add calcium gluconate if symptomatic
+
#*Obtain blood sample for steroid hormone measurement
 +
#**Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency '''prior''' to administering hydrocortisone
 +
#[[Hypoglycemia]]
 +
#*If significant hypoglycemia, given IV bolus 5-10mL/kg of 10% dextrose (0.5-1.0 g/kg) or 2-4mL/kg of 25% dextrose (D25) infused slowly at rate of 2-3 mL/min
 +
#[[Hyperkalemia]]
 +
#*Typically improves promptly after hydrocortisone  
 +
#*Rare occasionally for severe and symptomatic hyperkalemia, administration of glucose and insulin is needed to manage hyperkalemia
  
 
==Disposition==
 
==Disposition==
Admission
+
*Admit
 +
 
 +
==See Also==
 +
*[[Adrenal Crisis]]
 +
 
 +
==References==
 +
<references/>
  
==Source==
 
Tintinalli
 
  
[[Category:Peds]]
+
[[Category:Pediatrics]]
 +
[[Category:Endocrinology]]

Latest revision as of 19:30, 26 February 2020

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
  • Although congenital adrenal hyperplasia is part of the normal neonatal screening, results might not be available for 3 to 4 weeks.

Clinical features/evaluation

Work-Up

Differential Diagnosis

  • Adrenal salt-wasting crisis

Sick Neonate

THE MISFITS [1]

Management

  1. NS 10-20mL/kg bolus 0.9% saline solution or 5% dextrose in normal saline
    • Hypotonic saline or 5% dextrose without addition of NS should not be used as can worsen hyponatremia
  2. Steroid replacement
    • Neonates: Hydrocortisone 25mg IV/IO
    • Obtain blood sample for steroid hormone measurement
      • Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency prior to administering hydrocortisone
  3. Hypoglycemia
    • If significant hypoglycemia, given IV bolus 5-10mL/kg of 10% dextrose (0.5-1.0 g/kg) or 2-4mL/kg of 25% dextrose (D25) infused slowly at rate of 2-3 mL/min
  4. Hyperkalemia
    • Typically improves promptly after hydrocortisone
    • Rare occasionally for severe and symptomatic hyperkalemia, administration of glucose and insulin is needed to manage hyperkalemia

Disposition

  • Admit

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.