Difference between revisions of "Congenital adrenal hyperplasia"
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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 | ||
| Line 14: | Line 14: | ||
*Bedside glucose | *Bedside glucose | ||
*Chemistry | *Chemistry | ||
| − | **Hyponatremia | + | **[[Hyponatremia]] |
| − | **Hyperkalemia - rarely causes cardiac dysfunction | + | **[[Hyperkalemia]] - rarely causes cardiac dysfunction |
==Differential Diagnosis== | ==Differential Diagnosis== | ||
| − | + | *Adrenal salt-wasting crisis | |
{{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 |
| − | #Hyperkalemia | + | #[[Hyperkalemia]] |
| − | # | + | #*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== | ||
| Line 37: | Line 37: | ||
*[[Adrenal Crisis]] | *[[Adrenal Crisis]] | ||
| − | == | + | ==References== |
| − | + | <references/> | |
| − | [[Category: | + | |
| − | [[Category: | + | [[Category:Pediatrics]] |
| + | [[Category:Endocrinology]] | ||
Revision as of 21:59, 25 August 2019
Contents
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
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
Admission
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.