Congenital adrenal hyperplasia
Revision as of 20:36, 25 March 2015 by Rossdonaldson1 (talk | contribs) (Rossdonaldson1 moved page Congenital Adrenal Hyperplasia to Congenital adrenal hyperplasia)
Background
- 95% of cases due to deficiency of 21-hydroxylase
- Leads to cortisol deficiency, aldosterone deficiency, virilization
- Pts present during 2nd-5th week of life in crisis
Diagnosis
- Pt presents in 2nd week of life in crisis
- Lethargy, irritability, poor feeding, vomiting, dehydration, shock
- Salt-wasting
- Hyponatremia, hyperkalemia
- Virilization
Work-Up
- Bedside glucose
- Chemistry
- Hyponatremia
- Hyperkalemia - rarely causes cardiac dysfunction
DDx
- Adrenal salt-wasting crisis
- Sepsis
- Congenital heart disease
- Inborn errors of metabolism
Treatment
- 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
Source
Tintinalli