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Aromatase enzyme deficiency
35%
52/150
Hypokalemia
53/150
Increased levels of sex hormones
8%
12/150
XY karyotype
9%
14/150
Hypercortisolism
7%
10/150
Select Answer to see Preferred Response
This patient has clinical features consistent with 17-alpha hydroxylase deficiency, a form of congenital adrenal hyperplasia (CAH). 17-alpha hydroxylase deficiency leads to increased aldosterone, causing hypokalemia. CAH is classified based on the enzymatic defect present, most commonly 21-hydroxylase deficiency followed by 11-beta-hydroxylase deficiency, and then 17-alpha-hydroxylase deficiency. These different defects create different phenotypes in male and female patients with CAH and can be distinguished both clinically and by laboratory studies. 17-alpha hydroxylase deficiency leads to decreased production of cortisol and sex hormones, routing production instead towards mineralocorticoids. This leads to hypertension and hypokalemia. In females, it causes absence of secondary sex characteristics with normal internal sex organs. Incorrect Answers: Answer 1: Aromatase deficiency is not associated with 17-alpha-hydroxylase deficiency. Answer 3: Decreased levels of sex hormones are seen in 17-alpha-hydroxylase deficiency. Answer 4: This patient is expected to have a normal female XX karyotype. Answer 5: This patient would be expected to have low cortisol activity due to the enzyme deficiency.
3.8
(10)
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