🏥 USMLE Exam Prep

A newborn presents with ambiguous genitalia, salt wasting, and hypotension. Laboratory tests show elevated 17-hydroxyprogesterone levels. Which enzyme deficiency is most likely responsible for this condition?

A 21-hydroxylase
B 11β-hydroxylase
C 17α-hydroxylase
D 3β-hydroxysteroid dehydrogenase

✓ Correct Answer: Option A

21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. It leads to impaired cortisol and aldosterone synthesis (causing salt wasting) and accumulation of androgens (causing virilization/ambiguous genitalia in females).

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