Małgorzata Bobrowicz, Anna Nagórska, Anna Karpiłowska, Marek Rosłon, Joanna Hubska, Adrianna Gładka, Sadegh Toutounchi, Łukasz Koperski, Urszula Ambroziak
Department of Internal Medicine and Endocrinology, University Clinical Centre of the Medical University of Warsaw, Warsaw, Poland.
Doctoral School of Medical University of Warsaw, Warsaw, Poland.
Front Endocrinol (Lausanne). 2024 Dec 16;15:1491873. doi: 10.3389/fendo.2024.1491873. eCollection 2024.
Non-neoplastic hypercortisolaemia, also known as pseudo-Cushing's syndrome (PCS), is a physiological overactivation of the hypothalamic-pituitary-adrenal axis that can be triggered by conditions such as depression, eating disorders, extreme exercise, obesity, alcoholism, poorly controlled diabetes, chronic kidney disease, and cachexia. Here, we describe an unusual case of pheochromocytoma-induced PCS. A 66-year-old woman was referred to the hospital due to pronounced weakness, loss of appetite, apathy, weight loss, newly diagnosed diabetes mellitus, and poorly controlled hypertension. The biochemical evaluation suggested ACTH-dependent hypercortisolemia with severe hypokalemia, metabolic alkalosis, and hyperglycemia. Markedly elevated levels of metanephrines, along with imaging showing a heterogeneous adrenal lesion, provided evidence for pheochromocytoma. Considering the clinical features and the results of laboratory and imaging tests, there was a suspicion of hypercortisolemia due to ectopic ACTH secretion by a pheochromocytoma. The patient underwent adrenalectomy following pre-treatment with doxazosin and metyrapone, enteral feeding, protein supplementation, and insulin administration. Post-surgery, the patient did not require further antidiabetic medication, experienced gradual weight gain, improved well-being, and did not need glucocorticoid supplementation. Histopathological examination confirmed a pheochromocytoma; however, both anti-ACTH and anti-CRH stainings were negative, leading to a diagnosis of PCS. This case highlights the distinctive presentation of PCS caused by pheochromocytoma, as demonstrated through clinical, laboratory, and histopathological findings, and emphasizes the successful resolution achieved through adrenalectomy and supportive care.
非肿瘤性高皮质醇血症,也称为假性库欣综合征(PCS),是下丘脑 - 垂体 - 肾上腺轴的生理性过度激活,可由抑郁症、饮食失调、剧烈运动、肥胖、酗酒、糖尿病控制不佳、慢性肾病和恶病质等情况引发。在此,我们描述一例由嗜铬细胞瘤引起的PCS罕见病例。一名66岁女性因明显虚弱、食欲不振、冷漠、体重减轻、新诊断的糖尿病和控制不佳的高血压被转诊至医院。生化评估提示促肾上腺皮质激素(ACTH)依赖性高皮质醇血症,伴有严重低钾血症、代谢性碱中毒和高血糖。甲氧基肾上腺素水平显著升高,以及影像学显示肾上腺有不均匀病变,为嗜铬细胞瘤提供了证据。考虑到临床特征以及实验室和影像学检查结果,怀疑是嗜铬细胞瘤异位分泌ACTH导致高皮质醇血症。患者在接受多沙唑嗪和甲吡酮预处理、肠内营养、蛋白质补充和胰岛素治疗后接受了肾上腺切除术。术后,患者无需进一步的抗糖尿病药物治疗,体重逐渐增加,幸福感改善,且无需补充糖皮质激素。组织病理学检查证实为嗜铬细胞瘤;然而,抗ACTH和抗促肾上腺皮质激素释放激素(CRH)染色均为阴性,从而诊断为PCS。该病例突出了嗜铬细胞瘤引起的PCS的独特表现,通过临床、实验室和组织病理学检查结果得以证明,并强调了通过肾上腺切除术和支持性护理取得的成功治疗效果。