Departments of Endocrinology (P.K., S.C., B.A.C.), Andrology (D.J.H.), and Gynecology (A.H.P.), Concord General Repatriation Hospital, Concord, NSW 2139 Australia; Sydney ANZAC Research Institute (D.J.H.), Concord, NSW 2139, Australia; and The University of Sydney (D.J.H., B.A.C.), Sydney, NSW 2006, Australia.
J Clin Endocrinol Metab. 2014 Jan;99(1):12-7. doi: 10.1210/jc.2013-3108. Epub 2013 Dec 20.
Secondary erythrocytosis due to androgens is most commonly seen in the context of T replacement therapy in men. Leydig cell ovarian tumors are a rare cause of virilization, erythrocytosis, and thromboembolism.
We describe the case of a 55-year-old postmenopausal woman who presented with a 3-year history of frontal balding and virilization and a 5-year history of obstructive sleep apnea. She had not experienced significant alteration in libido or mood. Menstruation had ceased at age 46. She had a history of recurrent pulmonary embolism and unexplained secondary erythrocytosis. Past hematological investigations had not revealed any evidence of malignancy or thrombophilia, and the JAK2 mutation was negative. The serum erythropoietin was mildly elevated at 20.3 mIU/mL (normal range, 3.6-16.6 mIU/mL). The serum T was initially reported (by immunoassays) as >1600 ng/dL (>55 nmol/L). Similarly, serum androstenedione (>1000 ng/dL; >35 nmol/L), estradiol (169 pg/mL; 621 pmol/L), and dehydroepiandrosterone sulfate (348 μg/dL; 9.4 μmol/L) were all elevated for a postmenopausal woman. Repeat analysis of the serum T by mass spectrometry showed an extremely elevated level of 4270 ng/dL (148 nmol/L). Computed tomography scan revealed a 5.0-cm right ovarian tumor. After surgical removal of an ovarian Leydig cell tumor, her virilization, erythrocytosis, and sleep apnea resolved.
Hyperandrogenism in women should be considered as a rare but important cause of erythrocytosis, recurrent thromboembolism, and sleep apnea. The diagnosis of hyperandrogenism requires a careful history and physical examination because in postmenopausal women, menstrual disturbance does not occur and cosmetic measures may mask overt clinical features.
雄激素引起的继发性红细胞增多症最常见于男性 T 替代治疗的情况下。莱迪希细胞瘤是导致男性化、红细胞增多症和血栓栓塞的罕见原因。
我们描述了一位 55 岁绝经后妇女的病例，她有 3 年的额部脱发和男性化病史，以及 5 年的阻塞性睡眠呼吸暂停病史。她的性欲或情绪没有明显改变。她的月经在 46 岁时停止。她有反复肺栓塞和不明原因的继发性红细胞增多症病史。过去的血液学检查没有发现任何恶性肿瘤或血栓形成倾向的证据，JAK2 突变呈阴性。血清促红细胞生成素轻度升高，为 20.3 mIU/mL（正常范围为 3.6-16.6 mIU/mL）。血清 T 最初（通过免疫测定）报告>1600ng/dL（>55nmol/L）。同样，血清雄烯二酮（>1000ng/dL；>35nmol/L）、雌二醇（169pg/mL；621pmol/L）和硫酸脱氢表雄酮（348μg/dL；9.4μmol/L）对绝经后妇女均升高。通过质谱分析对血清 T 的重复分析显示，水平极高，为 4270ng/dL（148nmol/L）。计算机断层扫描显示右侧卵巢有一个 5.0 厘米的肿瘤。卵巢莱迪希细胞瘤切除后，她的男性化、红细胞增多症和睡眠呼吸暂停得到缓解。
女性的高雄激素血症应被视为红细胞增多症、复发性血栓栓塞和睡眠呼吸暂停的罕见但重要原因。高雄激素血症的诊断需要仔细的病史和体格检查，因为在绝经后妇女中，月经紊乱不会发生，美容措施可能掩盖明显的临床特征。
