A 29-year-old woman is evaluated in the clinic for a 4-month history of rapidly progressiv… — USMLE Step 2 CK

A 29-year-old woman is evaluated in the clinic for a 4-month history of rapidly progressive facial hair growth, severe acne, and absent menses. Prior to this, she had regular 28-day menstrual cycles. The patient also reports recent deepening of her voice. She takes no medications and has no chronic medical conditions. Her BMI is $24 \text{ kg/m}^2$ , and her blood pressure is $115/75 \text{ mmHg}$ . Physical examination reveals coarse, dark terminal hair on her chin, chest, and lower abdomen. Temporal hair thinning is noted. Pelvic examination is remarkable for clitoromegaly. A urine pregnancy test is negative.

Laboratory studies show:
- Serum total testosterone: $155 \text{ ng/dL}$ (normal: $15-70 \text{ ng/dL}$ )
- Dehydroepiandrosterone sulfate (DHEAS): $8,200 \text{ \mu g/dL}$ (normal: $35-430 \text{ \mu g/dL}$ )
- Thyroid-stimulating hormone (TSH): $2.2 \text{ \mu U/mL}$ (normal: $0.5-5.0 \text{ \mu U/mL}$ )
- Prolactin: $12 \text{ ng/mL}$ (normal: $4-24 \text{ ng/mL}$ )

Which of the following is the most likely diagnosis?

A
Polycystic ovary syndrome
B
Sertoli-Leydig cell tumor
Androgen-secreting adrenal tumorAnswer
D
Non-classic congenital adrenal hyperplasia
E
Cushing syndrome

Answer

Androgen-secreting adrenal tumor

The correct answer identifies an adrenal tumor as the source. This patient presents with rapid-onset, severe virilization (deepening voice, clitoromegaly, temporal balding), which is a red flag for an androgen-secreting neoplasm. Furthermore, her laboratory tests show an extremely high level of dehydroepiandrosterone sulfate (DHEAS). Because DHEAS is produced almost exclusively by the adrenal glands, a markedly elevated level (typically

>700 \text{ \mu g/dL}

) strongly points to an androgen-secreting adrenal tumor (e.g., adrenocortical carcinoma) as the specific cause, rather than an ovarian source.

Step-by-Step Solution

Analyze the clinical history and physical examination findings.

The patient has a 4-month history of rapidly progressive virilization, including clitoromegaly, temporal balding, and a deepened voice.

Differentiating simple hyperandrogenism from true, rapid virilization is the critical first step to identifying an androgen-secreting neoplasm.

Evaluate the provided laboratory values.

Serum testosterone is elevated (

155 \text{ ng/dL}

) and DHEAS is markedly elevated (

8,200 \text{ \mu g/dL}

Specific androgen markers help localize the source of the excess hormone.

Correlate the laboratory markers with their physiologic sources.

The extreme elevation of DHEAS, which is exclusively produced by the adrenal glands, confirms an adrenal source rather than an ovarian source.

Ovarian tumors would present with high testosterone but normal DHEAS levels.

Key Concept

Rapid-onset virilization combined with a markedly elevated DHEAS level is highly specific for an androgen-secreting adrenal tumor.

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