An 8 days old male infant is brought to the emergency depament with vomiting, lethargy, dehydration and features of shock. Clinical examination reveals hyper pigmentation of the genital skin and normal external genitalia. Abdominal examination is unremarkable. Blood tests revealed sodium of 124 meq/1, potassium of 7 meq/1 and hypoglycemia. Which of the following is the most likely diagnosis:
Correct Answer: Congenital Adrenal Hyperplasia (CAH)
Description: 8 day old male infant presenting with vomiting, lethargy, dehydration, hyponatremia, hyperkalemia, hypoglycemia, and shock suggests a diagnosis of neonatal adrenal insufficiency/crisis. Congenital adrenal hyperplasia is the cause of adrenal insufficiency in children of this age group. Ref: Essential pediatrics by O.P.Ghai 6th edn/page 489-90.
Category:
Pediatrics
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