Park Yeung-Ae, Gao Frank, Sim Ie-Wen, Gilfillan Chris
Department of Endocrinology and Diabetes, Eastern Health, Box Hill, Victoria 3128, Australia.
Department of Diabetes and Endocrinology, Royal Melbourne Hospital, Parkville, Victoria 3050, Australia.
JCEM Case Rep. 2023 Jul 1;1(4):luad075. doi: 10.1210/jcemcr/luad075. eCollection 2023 Jul.
Distinguishing between Cushing syndrome (CS) and pseudo Cushing syndrome (PCS), also known as physiological hypercortisolism, can be difficult. PCS is caused by nonneoplastic overactivity of the hypothalamic-pituitary-adrenal axis and may be secondary to a range of conditions, including obesity, physical stress, malnutrition, and chronic alcoholism, and typically results in a lesser degree of hypercortisolism and fewer clinical features than CS. Management of PCS includes treatment of the underlying cause and reassessment of hypercortisolemia following improvement in the underlying etiology, as this may result in normalization of cortisol levels. The role of adrenal enzyme inhibitors in lowering cortisol levels in those with PCS is poorly understood. We report a case of a man presenting with weight loss who was found to have severe hypercortisolemia and elevated adrenocorticotropin (ACTH) complicated by infection, neuropsychiatric disturbance, and hypokalemia. Despite high cortisol levels, he was phenotypically not cushingoid, and the circadian rhythm of cortisol was preserved. Extensive investigations did not demonstrate a cause of symptoms or source of ACTH. Medical management with ketoconazole improved neuropsychiatric symptoms, and weight gain with nasogastric feeds resulted in the normalization of cortisol levels and resolution of symptoms following ketoconazole cessation.
区分库欣综合征（CS）和假性库欣综合征（PCS，也称为生理性皮质醇增多症）可能具有挑战性。PCS是由下丘脑 - 垂体 - 肾上腺轴的非肿瘤性过度活动引起的，可能继发于一系列情况，包括肥胖、身体应激、营养不良和慢性酒精中毒，通常导致的皮质醇增多程度低于CS，临床特征也较少。PCS的管理包括治疗潜在病因，并在潜在病因改善后重新评估高皮质醇血症，因为这可能导致皮质醇水平恢复正常。肾上腺酶抑制剂在降低PCS患者皮质醇水平方面的作用尚不清楚。我们报告了一例体重减轻的男性病例，该患者被发现患有严重的高皮质醇血症和促肾上腺皮质激素（ACTH）升高，并伴有感染、神经精神障碍和低钾血症。尽管皮质醇水平很高，但他在表型上并无库欣貌，且皮质醇的昼夜节律得以保留。广泛的检查未发现症状的原因或ACTH的来源。酮康唑药物治疗改善了神经精神症状，鼻饲喂养导致体重增加，从而使皮质醇水平恢复正常，且在停用酮康唑后症状得到缓解。
