Q:

A 2 month old baby who has ambiguous genitalia presents to the emergency department with vomiting. Lab results: Na+ 125mmol/L, K+ 6mmol/L. What is the most likely diagnosis?

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A 2 month old baby who has ambiguous genitalia presents to the emergency department with vomiting. Lab results: Na+ 125mmol/L, K+ 6mmol/L. What is the most likely diagnosis?


  1. Fragile X syndrome
  2. Turners syndrome
  3. Noonan syndrome
  4. Congenital adrenal hyperplasia

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The key is D. Congenital adrenal hyperplas. [ i) ambiguous genitalia ii) salt wasting manifested as hyponatremia and hyperkalemia (In mild forms of salt-wasting adrenal hyperplasia, salt wasting may not become apparent until an illness stresses the child). Here hyperkalaemia inspite of vomiting is indicating the disease].

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