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Zorluk: OrtaEndocrinology and Metabolism

A 27-year-old woman comes to the clinic reporting a 4-month history of rapidly increasing facial and body hair. She also mentions that her voice has deepened recently and her menstrual periods, previously regular, have stopped completely over the same timeframe. She has no significant past medical history and takes no medications. Her blood pressure is 118/76 mm Hg, pulse is 72/min, and BMI is 23 kg/m². Physical examination reveals coarse, dark hair over the upper lip, chin, chest, and lower abdomen. Temporal hair thinning is noted. Pelvic examination demonstrates significant clitoromegaly. Which of the following is the most appropriate next step in the evaluation of this patient?

  1. Measurement of serum testosterone and dehydroepiandrosterone sulfateCevap
  2. B
    Initiation of an oral contraceptive pill and spironolactone
  3. C
    Measurement of serum 17-hydroxyprogesterone
  4. D
    Pelvic ultrasonography and abdominal computed tomography
  5. E
    Measurement of serum luteinizing hormone and follicle-stimulating hormone

Cevap

Measurement of serum testosterone and dehydroepiandrosterone sulfate (DHEAS) is the most appropriate initial diagnostic step.
The correct answer is measurement of serum testosterone and dehydroepiandrosterone sulfate (DHEAS). This patient exhibits clear signs of severe virilization, including clitoromegaly, a deepening voice, and temporal hair thinning. Crucially, the onset of these symptoms has been rapid, developing over just 4 months. While polycystic ovary syndrome (PCOS) is the most common cause of hyperandrogenism in women, it typically presents peripubertally with a gradual onset of mild to moderate hirsutism and acne. Rapid, severe virilization is the classic presentation of a malignant or benign androgen-secreting tumor (either ovarian or adrenal). The appropriate initial step in evaluation is to measure biochemical markers to confirm hyperandrogenemia and localize the source. Very high testosterone levels (>150 ng/dL) point toward an ovarian source (e.g., Sertoli-Leydig cell tumor), whereas markedly elevated DHEAS levels (>700 mcg/dL) point toward an adrenal source (e.g., adrenocortical carcinoma). Once the biochemical source is established, targeted anatomical imaging (ultrasound for ovaries, CT for adrenal glands) can be performed.

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1
Identify the key clinical features and severity of the patient's presentation.
The patient has a rapid onset (4 months) of severe virilization, characterized by a deepening voice, clitoromegaly, and temporal hair thinning, along with secondary amenorrhea.
Recognizing the tempo and severity of hyperandrogenic symptoms is critical for differentiating functional/benign causes from malignant ones.
2
Differentiate between functional hyperandrogenism and androgen-secreting tumors.
Gradual onset of mild to moderate hirsutism suggests polycystic ovary syndrome (PCOS) or non-classic congenital adrenal hyperplasia (NCAH). Rapid onset with frank virilization strongly points toward an autonomous androgen-secreting tumor.
Tumors secrete very high levels of androgens rapidly and autonomously, leading to dramatic physical virilization not typically seen in PCOS.
3
Determine the algorithmic diagnostic sequence for suspected androgen-secreting tumors.
Biochemical confirmation with serum testosterone and dehydroepiandrosterone sulfate (DHEAS) must be ordered prior to imaging.
Significantly elevated testosterone (>150 ng/dL) points to an ovarian source, while markedly elevated DHEAS (>700 mcg/dL) indicates an adrenal source. This localization step guides targeted imaging and avoids unnecessary procedures.

Anahtar Kavram

Patients presenting with rapid onset of severe hyperandrogenism and virilization (e.g., clitoromegaly, voice deepening) require immediate biochemical evaluation with serum testosterone and DHEAS levels to identify and localize a suspected androgen-secreting tumor.
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