Question

Difficulty: HardReproductive Endocrinology and Infertility

A 29-year-old woman, gravida 0, seeks medical advice for a 9-month history of secondary amenorrhea and infertility. During the past 4 months, she has also noted severe cystic acne, increased terminal hair growth on her face and chest, and a noticeable deepening of her voice. She has no history of medical conditions and takes no medications. Her blood pressure is 126/80 mm Hg, pulse is 76/min, and BMI is 24 kg/m2kg/m^2. Physical examination demonstrates temporal balding, pronounced facial hirsutism, and clitoromegaly. Pelvic examination is limited by patient guarding, and no distinct adnexal masses are palpated. A urine β\beta-hCG test is negative. Laboratory evaluation reveals the following:

Total testosterone: 195 ng/dLng/dL (normal: 15-70 ng/dLng/dL)
Dehydroepiandrosterone sulfate (DHEAS): 210 μg/dL\mu g/dL (normal: 35-430 μg/dL\mu g/dL)
Prolactin: 14 ng/mLng/mL (normal: 4-23 ng/mLng/mL)
Thyroid-stimulating hormone: 2.1 μU/mL\mu U/mL

Which of the following is the most appropriate next step in the evaluation of this patient?

  1. Pelvic ultrasonographyAnswer
  2. B
    Computed tomography of the abdomen
  3. C
    Measurement of serum 17-hydroxyprogesterone
  4. D
    2-hour oral glucose tolerance test
  5. E
    Brain magnetic resonance imaging

Answer

Pelvic ultrasonography
The correct answer is pelvic ultrasonography because the patient presents with rapid-onset virilization (clitoromegaly, temporal balding, deepening voice) and significantly elevated serum testosterone with normal DHEAS. This clinical and laboratory profile points directly to an ovarian androgen-secreting tumor (e.g., Sertoli-Leydig cell tumor). The ovaries predominantly secrete testosterone, whereas the adrenal glands secrete DHEAS. Therefore, an isolated elevation in testosterone requires visualization of the ovaries via pelvic ultrasound.

Step-by-Step Solution

1
Differentiate between simple hyperandrogenism and frank virilization based on the clinical presentation.
The patient exhibits clitoromegaly, temporal balding, and a deepening voice, which are signs of frank virilization rather than simple hyperandrogenism (which typically presents only with acne and hirsutism).
Frank virilization indicates a rapidly progressive, likely neoplastic source of androgens, whereas simple hyperandrogenism suggests a benign functional disorder like PCOS or NCAH.
2
Interpret the laboratory values to localize the source of the excess androgens.
The total testosterone is markedly elevated (> 150 ng/dL), while the DHEAS level is completely normal.
Testosterone is secreted by both the ovaries and the adrenal glands, but DHEAS is exclusively produced by the adrenal glands. A high testosterone with normal DHEAS localizes the pathology to the ovaries.
3
Select the appropriate initial imaging modality to investigate the localized pathology.
Pelvic ultrasonography is chosen to image the ovaries.
Pelvic ultrasound is the first-line, standard-of-care imaging test for visualizing the female reproductive tract and evaluating for ovarian neoplasms such as Sertoli-Leydig cell tumors.

Key Concept

Differentiation of androgen-secreting tumors using biochemical markers (Testosterone vs. DHEAS) to guide specific site imaging.
Estimated Time:1m 30s
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