A 25-year-old woman presents to her primary care physician complaining of recent hair growth along her jawline, now requiring her to shave every 2 days. She has not shaved in about a week. She has also gained about 10 pounds in the last several months, and her periods have become irregular over the last year. Her last menstrual period was 3 months ago. Her temperature is 98.6°F (37.0°C), pulse is 72/min, blood pressure is 136/86 mmHg, and respirations are 13/min. Her BMI is 26 kg/m^2. Her skin exam reveals hirsutism along the jawline and acanthosis nigricans in the axillary folds. Cardiopulmonary and abdominal exams are unremarkable. A pelvic exam reveals normal external genitalia, a mobile and non-tender 6-week-sized uterus, and no adnexal masses or tenderness. Transvaginal ultrasound is performed and shown in Figure A. This patient is at increased future risk of which of the following?
Endometrial carcinoma
Ovarian cancer
Type 1 diabetes mellitus
Virilization
Endometrial carcinoma
This patient presents with hirsutism, oligomenorrhea, and multiple follicles on pelvic ultrasound, which is most consistent with polycystic ovarian syndrome (PCOS). PCOS is associated with an increased risk of endometrial carcinoma.

PCOS is an acquired endocrinopathy characterized by ovarian dysfunction and high rates of amenorrhea. Patients with PCOS are at risk for endometrial carcinoma due to unopposed estrogen exposure. Anovulation results in decreased progesterone, which prevents excessive endometrial build-up and thus increases the risk of endometrial hyperplasia and subsequent carcinoma. Increased adiposity in PCOS also increases estrogen, which is aromatized from testosterone in adipose cells, and further raises the risk for endometrial carcinoma. Treatment is with weight loss, metformin, and hormonal contraceptives.

Khan et al. review the genetic basis underlying PCOS. They discuss how this disease is the most common endocrinopathy in reproductive-age women resulting in anovulatory infertility. They recommend using multimodal methods to treat this disease.

Figure/Illustration A shows a transvaginal ultrasound of the ovary with many peripheral follicles (red circle). These findings are characteristic of PCOS.

Incorrect Answers:
Answer B: Ovarian cancer does not occur with increased incidence in patients with PCOS. They are at baseline risk and do not require additional screening. The rates of ovarian cancer increase with hereditary cancer syndromes such as BRCA mutation.

Answer C: Ovarian cyst rupture is not a complication of PCOS, as PCOS does not actually cause cysts (despite the name). The cystic spaces seen on ultrasound are immature follicles rather than cysts. Recurrent infections can lead to cysts and rupture.

Answer D: Type 1 diabetes mellitus is not associated with PCOS, but type 2 diabetes mellitus is. Type 2 diabetes can cause acanthosis nigricans via insulin resistance. Patients with recurrent bouts of pancreatitis are predisposed to diabetes mellitus.

Answer E: Virilization is not seen in PCOS, as the testosterone levels are elevated but not to the degree necessary to produce frank masculinization. If there is evidence of virilization, such as voice deepening or clitoromegaly the differential should be broadened to other diagnoses.

Bullet Summary:
Patients with PCOS are at increased risk of endometrial carcinoma as a result of unopposed estrogen from anovulation as well as aromatization in adipose tissue.