A 22-year-old nulligravid woman comes to the office for worsening acne on her face and body over the last 6 months. She initially attributed the acne to her diet and has been eating healthier to improve the acne and lose weight. The patient has lost 6.8 kg (15 lb) in the last 3 months, but the acne has not improved. She has no chronic medical conditions and has had no surgeries. The patient does not use tobacco, alcohol, or illicit drugs. Her father has type 2 diabetes mellitus and her mother has hyperlipidemia. Blood pressure is 138/86 mm Hg and pulse is 72/min. BMI is 42 kg/m². Coarse hair is noted on the chin and upper lip. Nodulocystic acne is present on the face, chest, and back. Pelvic examination shows an enlarged clitoris but otherwise normal external genitalia. Bimanual examination is limited by body habitus. Laboratory results reveal elevated total testosterone and normal dehydroepiandrosterone sulfate. Which of the following is the most likely diagnosis in this patient?

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11ec25c8_d9d6_4d8d_bc81_b73721e35d93_MD0003_00 This patient's severe hyperandrogenism-defined by either virilization (eg, enlarged clitoris) or rapid-onset (<1 year) hyperandrogenism (eg, hirsutism, nodulocystic acne)-is suggestive of an androgen-secreting tumor. Additional clinical features of androgen-secreting tumors and resultant virilization include bitemporal male-pattern balding, voice deepening, and increased muscle mass. Most androgen-secreting tumors arise from either the ovaries or adrenal glands, which can be distinguished from one another by the type of androgen produced. Ovarian androgen-secreting tumors produce markedly elevated testosterone levels (>150 ng/dL), whereas adrenal tumors produce elevated dehydroepiandrosterone sulfate (DHEAS) levels (>700 mcg/dL). This patient's elevated testosterone and normal DHEAS indicate an ovarian source for her virilization-most likely a Sertoli-Leydig cell tumor, a testosterone-secreting, sex cord-stromal ovarian tumor. The best next step in evaluation is a pelvic ultrasound, which may visualize a complex adnexal mass. Management includes surgical excision of the tumor and cancer staging. (Choice A) Classic congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency, typically presents during infancy as a salt-wasting adrenal crisis; girls also have ambiguous genitalia. Nonclassic CAH typically presents in young women with slowly progressive (over years) hyperandrogenism and abnormal uterine bleeding; true virilization is uncommon. Both types of CAH cause elevated 17-hydroxyprogesterone, rather than testosterone, levels. (Choice B) Adrenocortical carcinomas can cause rapid-onset virilization and some constitutional symptoms (eg, weight loss). However, patients with androgen-secreting tumors of adrenal origin have elevated DHEAS levels, which are not seen in this patient. (Choice C) Aromatase deficiency causes maternal and fetal virilization during pregnancy due to placental inability to convert DHEAS to estradiol. Therefore, individuals with aromatase deficiency have elevated DHEAS levels, in contrast with this patient. (Choice D) Polycystic ovary syndrome (PCOS) is a common cause of hyperandrogenism, abnormal uterine bleeding, and mildly elevated testosterone levels, particularly in obese patients. However, PCOS rarely results in the markedly elevated testosterone levels that cause virilization (eg, voice deepening, clitoromegaly), making this diagnosis less likely. Educational objective: Patients with a rapid onset (<1 year) of virilization should be evaluated for an androgen-secreting tumor of ovarian or adrenal origin. An elevated testosterone level and normal dehydroepiandrosterone sulfate (DHEAS) level are typically due to an ovarian source (eg, Sertoli-Leydig cell tumor). In contrast, elevated DHEAS and normal testosterone levels are typically due to an adrenal tumor. References: Ovarian Sertoli-Leydig cell tumours: how typical is their typical presentation? (http://www.ncbi.nlm.nih.gov/pubmed/28485183) Clinicopathologic features of ovarian Sertoli-Leydig cell tumors. (http://www.ncbi.nlm.nih.gov/pubmed/25400781)

A 22-Year-Old Nulligravid Woman Comes to the Office for Worsening