A 27-year-old woman presents to her primary care physician with new hair growth on her face and lower abdomen over the last month. She has started to develop pimples on her face and back over the last several months. Her last menstrual period was over 3 months ago and her periods have been irregular over the last year. She has been gaining weight recently. The patient has a medical history of obesity and prediabetes with a hemoglobin A1c of 6.0% last year. Her temperature is 98.5°F (36.9°C), pulse is 80/min, blood pressure is 139/88 mmHg, and respirations are 13/min. Cardiopulmonary exam is unremarkable, and the patient’s abdomen appears slightly distended but exhibits no tenderness to palpation. The patient’s face has coarse stubble along the jawline and on the upper lip, and there is similar hair along the midline of her lower abdomen. A pelvic exam reveals mild clitoromegaly, a normal anteverted uterus, and a large left adnexal mass that is mildly tender. Her laboratory test results are shown below:

Hemoglobin: 13.9 g/dL
Leukocyte count: 8,000 cells/mm^3
Platelet count: 142,000/mm^3

DHEAS: 73 ug/dL (Normal: 145-395 ug/dL)
Testosterone: 256 ng/dL
17-hydroxyprogesterone: 214 ng/dL (Normal: < 200 ng/dL)

Ultrasound findings are shown in Figure A. Which of the following is the most likely diagnosis in this patient?
Polycystic ovary syndrome
Adrenal tumor
Ovarian tumor
Ovarian hyperthecosis
Ovarian tumor
This young woman presents with rapid virilization, elevated testosterone, and a large left adnexal mass that is primarily solid on ultrasound. These findings are most consistent with an ovarian androgen-secreting tumor.

Sertoli-Leydig cell tumors are the most common androgen-secreting tumor of the ovaries and classically result in rapid virilization of affected women. Testosterone levels are often over 200 ng/dL, and 17-hydroxyprogesterone may also be slightly elevated as it is an androgen precursor. The androgen excess may result in symptoms such as facial and abdominal hirsutism, oligomenorrhea, deepening voice, and acne. Treatment involves staging the tumor and surgical resection of the tumor if possible.

Durmus et al. review the evidence regarding the diagnosis and treatment of Sertoli-Leydig cell tumors. They discuss how this tumor generally has a favorable prognosis compared to malignant epithelial tumors. They recommend using fertility-preserving surgeries in younger patients.

Figure/Illustration A shows an ultrasound of the left ovary, which has a predominantly solid mass with vascularity and some cystic spaces (red circle). These findings are consistent with an ovarian tumor.

Incorrect Answers:
Answer A: Adrenal tumors may secrete androgens and cause similar symptoms of virilization, but the presence of a malignant-appearing ovarian mass in this patient is more consistent with ovarian pathology. Furthermore, adrenal tumors typically secrete DHEAS, which can be a helpful test for localizing the source of androgen excess. Treatment is with surgical excision.

Answer B: Congenital adrenal hyperplasia (CAH) results from one of several possible enzyme deficiencies in the steroid pathway and may appear later in life as virilization of a woman. While 17-hydroxyprogesterone elevation is a strong indicator of the most common subtype of CAH, this patient’s ultrasound findings suggest ovarian pathology instead, which could also elevate this androgen precursor. Treatment is with hormone replacement therapy.

Answer C: Ovarian hyperthecosis is hyperplasia of the theca interna of the ovary, which produces androgens. Testosterone levels would be elevated and virilization may occur, but ultrasound findings would show a bilateral increase in stromal tissue as opposed to a unilateral solid mass. Treatment is with hormonal therapy.

Answer E: Polycystic ovary syndrome (PCOS) can also cause elevated testosterone, though levels are typically lower than 100 ng/dL. Frank virilization with clitoromegaly and voice deepening would not be expected with PCOS, nor would an ovarian mass. Treatment is with metformin and lifestyle modifications.

Bullet Summary:
Sertoli-Leydig cell tumors of the ovary can produce androgens and result in rapid onset of virilization with elevated testosterone levels and an adnexal mass on ultrasound.