Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, 4200-319, Porto, Portugal.
Faculty of Medicine of University of Porto, Porto, Portugal.
J Med Case Rep. 2021 May 26;15(1):287. doi: 10.1186/s13256-021-02882-7.
The clinical characteristics and complications of Cushing syndrome (CS) are well known and described in the literature. Nevertheless, rare, atypical presentations may go unnoticed. Osteonecrosis is a well-documented complication of glucocorticoid therapy. However, endogenous hypercortisolism is a rare, but relevant, cause of bone avascular necrosis. We describe the case of a woman with CS undiagnosed for 2 years after presenting with femoral avascular necrosis.
A 38-year-old Caucasian woman was referred for evaluation of secondary amenorrhea, associated with oral contraception withdrawal in the context of deep venous thrombosis (DVT). She had a previous right hip arthroplasty for treatment of avascular necrosis of the femoral head, diagnosed after 3 years of progressive right hip pain and limited mobility. She also had high blood pressure (HBP) of 5 years' duration, and reported weight gain (4 kg in 2 years). There was no history of infertility (gravida 2, para 2). Physical examination revealed buffalo hump, truncal obesity, facial plethora, muscular atrophy and proximal myopathy, and easy bruising (under anticoagulant treatment for DVT). Workup showed abnormal overnight dexamethasone suppression test (DST) (serum cortisol 21.5 µg/dL; normal < 1.8 µg/dL), elevated 24-hour urinary free cortisol (UFC) (728.9 µg/day; reference range 36.0-137.0 µg/day), and suppressed plasma adrenocorticotropic hormone (ACTH) (< 1.0 pg/mL), findings consistent with ACTH-independent CS. Urinary metanephrines and catecholamines were normal, and the remaining analytical study showed no major changes, apart from glycated hemoglobin (HbA1c) of 6.8%. Adrenal computed tomography (CT) scan showed a 25 mm lesion in the left adrenal gland, with density non-suggestive of adenoma. The patient underwent unilateral adrenalectomy and started steroid replacement. Histology revealed an adrenal cortex adenoma. Three months after surgery the patient presented with resolution of HBP and hypercortisolism (UFC 37.4 µg/day; reference range 36.0-137.0 µg/day).
In some cases, CS signs may go unnoticed and the diagnosis postponed. Avascular necrosis is a rare presenting feature of endogenous hypercortisolism, and, if left untreated, complete collapse of the femoral head may ensue, rendering the need for hip replacement in up to 70% of patients. Suspicion and recognition of atypical features is therefore important in avoiding complications and delay in treatment of CS.
库欣综合征（CS）的临床特征和并发症在文献中已有详细描述。然而，罕见的不典型表现可能会被忽视。骨坏死是糖皮质激素治疗的一种已被充分记录的并发症。然而，内源性皮质醇增多症是骨血运性坏死的一个罕见但相关的原因。我们描述了一例 CS 患者，该患者在出现股骨血运性坏死 2 年后仍未被诊断。
一名 38 岁白人女性因继发性闭经就诊，伴有口服避孕药停药后出现深静脉血栓形成（DVT）。她曾因右侧股骨头缺血性坏死接受右侧髋关节置换术，3 年后出现右侧髋关节进行性疼痛和活动受限。她还患有 5 年的高血压（HBP），并报告体重增加（2 年内增加了 4 公斤）。她没有不孕（孕 2 产 2）的病史。体格检查发现水牛背、躯干肥胖、面部多血质、肌肉萎缩和近端肌病，以及容易瘀伤（正在接受 DVT 的抗凝治疗）。检查发现过夜地塞米松抑制试验（DST）异常（血清皮质醇 21.5 µg/dL；正常值<1.8 µg/dL），24 小时尿游离皮质醇（UFC）升高（728.9 µg/天；参考范围 36.0-137.0 µg/天），血浆促肾上腺皮质激素（ACTH）受抑制（<1.0 pg/mL），这些发现符合 ACTH 非依赖性 CS。尿间甲肾上腺素和儿茶酚胺正常，其余分析检查除糖化血红蛋白（HbA1c）为 6.8%外，无其他重大变化。肾上腺 CT 扫描显示左侧肾上腺有一个 25mm 的病变，密度不提示腺瘤。患者接受了单侧肾上腺切除术，并开始接受类固醇替代治疗。组织学显示肾上腺皮质腺瘤。术后 3 个月，患者的高血压和皮质醇增多症得到缓解（UFC 37.4 µg/天；参考范围 36.0-137.0 µg/天）。
在某些情况下，CS 的体征可能会被忽视，诊断会被推迟。骨坏死是内源性皮质醇增多症的一种罕见表现，如果不治疗，可能会导致股骨头完全塌陷，在多达 70%的患者中需要进行髋关节置换。因此，怀疑和识别不典型特征对于避免 CS 的并发症和治疗延误非常重要。
