Lubchansky Stephanie B, McManus Ruth
AACE Clin Case Rep. 2020 Jun 23;6(6):e290-e294. doi: 10.4158/ACCR-2020-0184. eCollection 2020 Nov-Dec.
Hirsutism and hyperandrogenism in premenopausal women are most often associated with polycystic ovarian syndrome. We present a case of progressive, severe hyperandrogenism with negative imaging identified on surgical histopathology as being due to a Leydig cell tumor (LCT), thus illustrating localization challenges associated with these small tumors.
Laboratory investigations included testosterone, dehydroepiandrosterone sulfate, 17-hydroxyprogesterone, luteinizing hormone, follicle-stimulating hormone, thyroid-stimulating hormone, 24-hour urine cortisol, and prolactin. Imaging included pelvic ultrasound, adrenal magnetic resonance imaging, and computed tomography. Ovarian vein sampling was not available.
A 42-year-old woman presented with frontal alopecia, voice deepening, coarse facial hair, and amenorrhea on a background of lifelong oligomenorrhea. Peak testosterone was 30.2 nmol/L (female normal range is <2.0 nmol/L) with normal dehydroepiandrosterone sulfate, 17-hydroxyprogesterone, prolactin, 24-hour urine cortisol, and thyroid-stimulating hormone. Transvaginal ultrasound, adrenal magnetic resonance imaging, and computed tomography of the thorax and abdomen revealed no androgen source. Testosterone failed to suppress with gonadotropin-releasing hormone agonist. Although no abnormality was seen during oophorectomy, surgical pathology documented a 1.8-cm, well-circumscribed hilar LCT. Postoperative testosterone was <0.5 nmol/L.
Although this patient had testosterone levels well into the masculine range, multiple imaging results were negative with a LCT found only after oophorectomy. LCTs are rare ovarian stromal tumors and while 50 to 70% of these tumors produce androgen, size and clinical severity may not be well correlated. This case report illustrates that despite an association with substantially elevated androgen levels, the small size of LCTs can result in localization challenges.
绝经前女性的多毛症和高雄激素血症最常与多囊卵巢综合征相关。我们报告一例进行性、严重高雄激素血症病例，手术组织病理学检查发现影像学检查结果为阴性，病因是睾丸间质细胞瘤（LCT），从而说明了这些小肿瘤的定位挑战。
实验室检查包括睾酮、硫酸脱氢表雄酮、17-羟孕酮、促黄体生成素、促卵泡生成素、促甲状腺激素、24小时尿皮质醇和催乳素。影像学检查包括盆腔超声、肾上腺磁共振成像和计算机断层扫描。未进行卵巢静脉采样。
一名42岁女性，有终生月经过少病史，现出现额部脱发、声音变粗、面部毛发增多和闭经。睾酮峰值为30.2 nmol/L（女性正常范围<2.0 nmol/L），硫酸脱氢表雄酮、17-羟孕酮、催乳素、24小时尿皮质醇和促甲状腺激素水平正常。经阴道超声、肾上腺磁共振成像以及胸部和腹部计算机断层扫描均未发现雄激素来源。促性腺激素释放激素激动剂未能抑制睾酮水平。虽然卵巢切除术期间未发现异常，但手术病理显示有一个1.8 cm、边界清晰的门部LCT。术后睾酮水平<0.5 nmol/L。
虽然该患者的睾酮水平已处于男性范围，但多项影像学检查结果均为阴性，仅在卵巢切除术后才发现LCT。LCT是罕见的卵巢间质肿瘤，虽然其中50%至70%的肿瘤会产生雄激素，但其大小与临床严重程度可能并无良好相关性。本病例报告表明，尽管LCT与雄激素水平大幅升高有关，但其体积小会导致定位困难。
