A 28-year-old woman presents to the clinic with complaints of excessive hair growth on her face and body, irregular menstrual periods, deepening of her voice, and unexplained weight gain over the past six months. She reports that her last menstrual period was two months ago. Her medical history is unremarkable, and she is does not take any medications. Her body mass index (BMI) is 29 kg/m², blood pressure is 140/85 mm Hg, and pulse is 75/min. Physical examination reveals temporal balding, acne and hair growth on her upper lip and chin, and clitoromegaly. Laboratory results reveal the following:
Which of the following is the most appropriate next step in the evaluation of this patient?
E) Serum testosterone and dehydroepiandrosterone sulfate levels
This patient presents with signs and symptoms of hyperandrogenism, including hirsutism, temporal balding, clitoromegaly, and deepening of the voice. The rapid onset and severity of these symptoms raise suspicion for an androgen-secreting tumor, either ovarian or adrenal in origin.
Hirsutism is defined as excessive male-pattern hair growth in women of reproductive age. It may be the initial, and possibly only, sign of an underlying androgen disorder, the cutaneous manifestations of which may also include acne and female-pattern hair loss (androgenetic alopecia). The most common cause of hirsutism is polycystic ovary syndrome (PCOS). In some cases, hirsutism is mild and requires only reassurance and local therapy, while in others, it causes significant psychological distress and requires more extensive therapy.
Measuring a serum total testosterone is appropriate in all women with clinical evidence of hirsutism (defined by the presence of excess terminal hair growth in androgen-dependent areas). The choice of additional tests is based upon the patient's presentation (time of onset, pace of progression, presence or absence of virilization, and menstrual cycle status). The initial step in evaluating suspected hyperandrogenism should include measurement of serum testosterone and dehydroepiandrosterone sulfate (DHEAS) levels. Elevated testosterone levels with normal DHEAS levels may suggest an ovarian source, while elevated DHEAS levels might indicate an adrenal source.
Answer choice A: 17-hydroxyprogesterone level, is incorrect. Measuring the 17-hydroxyprogesterone level is useful for diagnosing congenital adrenal hyperplasia (CAH), but the rapid onset of symptoms and significant virilization in this patient make CAH less likely.
Answer choice B: Dexamethasone suppression test. A dexamethasone suppression test is used to diagnose Cushing syndrome. While Cushing syndrome can cause hirsutism, the prominent virilization symptoms in this patient make an androgen-secreting tumor more likely.
Answer choice C: Insulin-like growth factor 1 level, is incorrect. An insulin-like growth factor 1 (IGF-1) level is used to diagnose acromegaly, which can cause hirsutism but is typically associated with features like enlarged facial features and macroglossia, which are not present in this patient.
Answer choice D: Plasma fractionated metanephrines, is incorrect. Plasma fractionated metanephrines are used to diagnose pheochromocytoma, which presents with paroxysmal hypertension, palpitations, and headaches, not hirsutism and virilization.
Key Learning Point
For a patient with rapid-onset hyperandrogenism, such as hirsutism and irregular menstrual periods, the best next step is to measure serum testosterone and dehydroepiandrosterone sulfate (DHEAS) levels to identify a potential androgen-secreting tumor.
