Congenital adrenal hyperplasia: Difference between revisions

No edit summary
 
(30 intermediate revisions by 6 users not shown)
Line 1: Line 1:
==Background==
==Background==
[[File:Steroidogenesis.svg|thumb|Steroidogenesis: The enzymes affected in CAH are represented by one red and four green bars on the top half of the diagram (for example, "21α-hydroxylase" is visible near the top center. "17α-hydroxylase" and "17,20 lyase" are carried out by a single enzyme).Depending upon which enzyme is unavailable, production of androgens (lower left) or mineralocorticoids (upper right) is reduced. This, in turn, can lead to increased production of other molecules, due to a buildup of precursors.]]
*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==
*Pt presents in 2nd week of life in crisis
[[File:ClitoromegalyCAH.jpg|thumb|Clitoromegaly (with normal labia and introitus) in a female child with CAH.]]
**Lethargy, irritability, poor feeding, vomiting, dehydration, shock
*Patient presents in 2nd week of life in crisis
**[[Lethargy]], irritability, poor feeding, [[vomiting]], [[dehydration (peds)|dehydration]], [[pediatric shock|shock]]
*Salt-wasting
*Salt-wasting
**Hyponatremia, hyperkalemia
**[[Hyponatremia]], [[hyperkalemia]]
*Virilization
*Virilization: The development of male-pattern physical traits in females
*Brown hue skin color
*Partial CAH may present later and less dramatically with irregular menses in adolescence


==Work-Up==
==Differential Diagnosis==
*Adrenal salt-wasting crisis
 
{{Sick neonate DDX}}
{{Adrenal crisis ddx}}
 
==Evaluation==
===Work-Up===
*Bedside glucose
*Bedside glucose
*Chemistry
*Chemistry
**Hyponatremia
**[[Hyponatremia]]
**Hyperkalemia - rarely causes cardiac dysfunction
**[[Hyperkalemia]] - rarely causes cardiac dysfunction


==DDx==
===Diagnosis===
#Adrenal salt-wasting crisis
#Sepsis
#Congenital heart disease
#Inborn errors of metabolism


==Treatment==
==Management==
#NS 10-20cc/kg bolus
*[[NS]] 10-20mL/kg bolus 0.9% saline solution or 5% dextrose in normal saline
#Steroid replacement
**Hypotonic saline or 5% dextrose without addition of NS should not be used as can worsen hyponatremia
##Neonates: Hydrocortisone 25mg IV/IO
*[[Steroid]] replacement
#Hyperkalemia
**Neonates: [[Hydrocortisone]] 25mg IV/IO
##Do NOT give insulin/glucose (may lead to profound hypoglycemia)
**Obtain blood sample for steroid hormone measurement
##NS and hydrocortisone are usually sufficient
***Most importantly 17-OHP (17-hydroxyprogesterone) to evaluate for 21-hydroxylase deficiency '''prior''' to administering hydrocortisone
##May add calcium gluconate if symptomatic
*[[Neonatal hypoglycemia|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 16:56, 14 February 2024

Background

Steroidogenesis: The enzymes affected in CAH are represented by one red and four green bars on the top half of the diagram (for example, "21α-hydroxylase" is visible near the top center. "17α-hydroxylase" and "17,20 lyase" are carried out by a single enzyme).Depending upon which enzyme is unavailable, production of androgens (lower left) or mineralocorticoids (upper right) is reduced. This, in turn, can lead to increased production of other molecules, due to a buildup of precursors.
  • 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

Clitoromegaly (with normal labia and introitus) in a female child with CAH.
  • Patient presents in 2nd week of life in crisis
  • Salt-wasting
  • Virilization: The development of male-pattern physical traits in females
  • Brown hue skin color
  • Partial CAH may present later and less dramatically with irregular menses in adolescence

Differential Diagnosis

  • Adrenal salt-wasting crisis

Sick Neonate

THE MISFITS [1]

Adrenal crisis

Evaluation

Work-Up

Diagnosis

Management

  • 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
  • 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
  • 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

  • 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.