Answer 1 Nonclassic CAH. Symptoms of nonclassic CAH include premature pubarche, primary amenorrhea, menstrual dysfunction, hirsutism, acne, and infertility. CAH is the result of 21-hydroxylase deficiency, and laboratory testing that reveals an elevated 17-hydroxyprogesterone level (a result of the enzyme defect) is diagnostic of this condition. Thus, laboratory assessment is critical in diagnosing CAH. Asherman’s syndrome is characterized by secondary amenorrhea caused by intrauterine adhesions (also called “uterine synechiae”), but it would not be associated with laboratory abnormalities. Cushing’s syndrome would manifest with additional findings such as rapid weight gain, hypertension, and abdominal striae. PCOS would not manifest with elevated 17-hydroxyprogesterone levels but would certainly be included on the list of differential diagnoses. Click here to return to the questions
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