Congenital adrenal hyperplasia: Difference between revisions
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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 | ||
* | *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== | ||
* | *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 | ||
== | ==Differential Diagnosis== | ||
*Adrenal salt-wasting crisis | |||
== | {{Sick neonate DDX}} | ||
#NS 10- | |||
#Steroid replacement | ==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== | ==Disposition== | ||
*Admit | |||
==See Also== | ==See Also== | ||
*[[Adrenal Crisis]] | *[[Adrenal Crisis]] | ||
== | ==References== | ||
<references/> | |||
[[Category: | [[Category:Pediatrics]] | ||
[[Category: | [[Category:Endocrinology]] | ||
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
- Patient presents in 2nd week of life in crisis
- Lethargy, irritability, poor feeding, vomiting, dehydration, shock
- Salt-wasting
- Virilization
- Partial CAH may present later and less dramatically with irregular menses in adolescence
Work-Up
- Bedside glucose
- Chemistry
- Hyponatremia
- Hyperkalemia - rarely causes cardiac dysfunction
Differential Diagnosis
- Adrenal salt-wasting crisis
Sick Neonate
THE MISFITS [1]
- Trauma
- Heart
- Congenital heart disease
- Hypovolemia
- Endocrine
- Metabolic
- Sodium
- Calcium
- Glucose
- Inborn errors of metabolism
- Seizure
- Formula / feeding problems
- Intestinal Disasters
- Toxin
- Sepsis
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
- ↑ Brousseau T, Sharieff GQ. Newborn emergencies: the first 30 days of life. Pediatr Clin North Am. 2006 Feb;53(1):69-84, vi.