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 | ||
== | ==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== | ==Differential Diagnosis== | ||
| Line 22: | Line 23: | ||
{{Sick neonate DDX}} | {{Sick neonate DDX}} | ||
== | ==Management== | ||
#[[NS]] 10-20cc/kg bolus | #[[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 [[Neonatal hypoglycemia|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== | ||
*Admit | |||
==See Also== | ==See Also== | ||
*[[Adrenal Crisis]] | *[[Adrenal Crisis]] | ||
== | ==References== | ||
<references/> | |||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
Revision as of 21:16, 5 October 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
- 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 10-20cc/kg bolus
- Steroid replacement
- Neonates: Hydrocortisone 25mg IV/IO
- Hyperkalemia
- Do NOT give insulin/glucose (may lead to profound hypoglycemia)
- NS and hydrocortisone are usually sufficient
- May add calcium gluconate if symptomatic
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.