№ 37General Pediatrics15 min read
Congenital adrenal hyperplasia
1. Big picture
Congenital adrenal hyperplasia (CAH) is one of the most important pediatric endocrine emergencies because it can present as:
Newborn with vomiting + dehydration + shock + hyponatremia + hyperkalemia
→ salt-wasting CAH until proven otherwise
For the final exam, CAH is mainly about 21-hydroxylase deficiency.
The examiner wants you to know:
- Why cortisol is low
- Why androgens are high
- Why some babies lose salt and collapse
- Why girls may have ambiguous genitalia
- How to recognize adrenal crisis
- How to treat before the child dies
Core oral-exam sentence: **“CAH is an autosomal recessive defect of adrenal steroid sy
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