A 22-year-old Hispanic woman comes to the office for evaluation of amenorrhea and excessive body hair. She reports a weight gain of 5.4 kg (12 lb) over the last 2 years. Menarche was at age 11, and her menstrual cycles are irregular and heavy with

Question

A 22-year-old Hispanic woman comes to the office for evaluation of amenorrhea and excessive body hair. She reports a weight gain of 5.4 kg (12 lb) over the last 2 years. Menarche was at age 11, and her menstrual cycles are irregular and heavy with <6 cycles a year. The patient previously had menses following a 10-day treatment with medroxyprogesterone acetate. She has no other medical problems and takes no medications.
Blood pressure is 144/80 mm Hg and pulse is 70/min. BMI is 32 kg/m². The patient has frontal balding with coarse terminal hair on the face, upper chest, lower abdomen, and back. There are no purple striae. Breast examination shows no galactorrhea, and the thyroid is not enlarged on palpation.
Complete blood count, TSH, FSH, prolactin, and serum chemistry tests are normal. Serum total testosterone is 105 ng/dL (normal: 20-60) . Urine pregnancy test is negative.
Which of the following is the best next step in management of this patient?

Quizplus · Accepted Answer

11ec193a_97db_45cd_853d_8b3db288367d_MD0002_00 This patient has obesity, oligomenorrhea, and hirsutism, which are typically caused by polycystic ovary syndrome (PCOS); however, other causes of hirsutism must be ruled out. Atypical findings or pronounced virilization (eg, frontal balding, voice deepening, clitoromegaly) make other etiologies such as androgen-producing tumors (eg, ovary, adrenal) and nonclassic (late-onset) congenital adrenal hyperplasia (CAH) more likely. In this patient, the most likely diagnosis is nonclassic CAH, a 21-hydroxylase enzyme deficiency. Patients have signs of androgen excess (eg, premature pubarche, acne, accelerated bone age, hirsutism, menstrual irregularities) in late childhood or early adulthood. However, there is usually no cortisol deficiency, unlike in classic early-onset CAH. Nonclassic CAH is more common in Ashkenazi Jewish, Italian, Slavic, and Hispanic patients. Diagnosis of nonclassic CAH is suggested by elevated 17-hydroxyprogesterone basal levels (>200 ng/dL) and confirmed by a significant increase in 17-hydroxyprogesterone (>1,000 ng/dL) after high-dose ACTH (250 µg) administration. (Choice B) Measurement of estradiol is unlikely to be helpful as this patient had withdrawal bleeding with medroxyprogesterone acetate, suggesting no estrogen deficiency. (Choice C) Androgen-secreting ovarian tumors can be diagnosed by pelvic ultrasound; however, such tumors generally present in postmenopausal women, tend to progress quickly, and are unlikely in the absence of a significantly elevated testosterone level (>150 ng/dL). PCOS can be diagnosed based on 2 of 3 criteria (irregular or absent ovulation, hyperandrogenism, polycystic ovaries on ultrasound); therefore, pelvic ultrasound is not required in patients with 2 other criteria for PCOS, particularly as the finding of polycystic ovaries is nonspecific (eg, can also be found in patients with idiopathic hirsutism or with normal ovarian function). This patient does not require an pelvic ultrasound and should undergo further testing for nonclassic CAH. (Choice D) Pituitary MRI is required if laboratory results reveal significant hyperprolactinemia or Cushing syndrome. (Choice E) Primary hyperaldosteronism presents with hypertension and possibly hypokalemia; it does not typically cause hirsutism or menstrual abnormalities. Educational objective: Nonclassic congenital adrenal hyperplasia (CAH) presents with hyperandrogenism and ovulatory dysfunction similar to polycystic ovary syndrome, and has a later onset than classic CAH. Diagnosis is confirmed by elevated 17-hydroxyprogesterone levels that significantly increase after ACTH administration. __________ References: Evidence-based approach to cutaneous hyperandrogenism in women. (http://www.ncbi.nlm.nih.gov/pubmed/26138647) Endocrinology update: hirsutism. (http://www.ncbi.nlm.nih.gov/pubmed/27936531)

A 22-Year-Old Hispanic Woman Comes to the Office for Evaluation