Which of the following statements about 21 alpha hydroxylase deficiency is false?

A. Most common cause of Congenital Adrenal Hyperplasia (CAH) in children

B. Affected females present with ambiguous genitalia

C. Affected males present with precocious pubey

D. Hypokalemic alkalosis is seen

Correct Answer: Hypokalemic alkalosis is seen

Description: Hyperkalemia is seen in this case.Deficiency of 21 hydroxylase results in manifestations of aldosterone deficiency (salt wasting), loss of sodium (hyponatremia), increase in potassium (hyperkalemia). Ref: OP Ghai 6th Edition, Page 490;Harrison 17th Edition, Page 2267; Nelson 18th Edition, Page 2360- 2365

Category: Pediatrics

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