A one month old baby presents with frequent vomiting and failure to thrive, There are features of moderate dehydration, Blood sodium is 122 m Eq/i and potassium is 6.1 in Eq/L The most likely diagnosis is
Correct Answer: 21 hydroxylase deficiency
Description: 21 Hydroxylase deficiency - (A) Salt losing form of CALL due to associated with aldosterone deficiency, these patients presents with severe vomiting, and vascular collapse. Hyponatreniia hypochloremia and hyperkalemia (B) A Cryptic form of CAH is asymptomatic - presents with menstrual irregularities, acne, hirsutism * Female pseudo hermaphroditism in female 11 b hydroxylase deficiency - presents with hypeension, and hypokalemia Bater's syndrome - - Presents during childhood, having growth retardation, normal to low BP, hypokalemia secondary to renal K+ wasting, metabolic alkalosis, nephrocalcinotic Gitelman's syndrome - (Variant of Bater's syndrome presents during adolescence/adult hood) * Hypokalemia, hypocalciuria, hypomagnesemia and normal prostaglandin production * Metabolic alkalosis
Category:
Pediatrics
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