Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.
Department of Endocrinology, I. Medical Clinic, University Hospital, University of Augsburg, 86156 Augsburg, Germany.
J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3723-e3730. doi: 10.1210/clinem/dgac379.
Cushing syndrome (CS) is a rare and serious disease with high mortality. Patients are often diagnosed late in the course of the disease.
This work investigated whether defined patient populations should be screened outside the at-risk populations defined in current guidelines.
As part of the prospective German Cushing registry, we studied 377 patients with suspected CS. The chief complaint for CS referral was documented. Using urinary free cortisol, late-night salivary cortisol, and the 1-mg dexamethasone suppression test as well as long-term clinical observation, CS was confirmed in 93 patients and ruled out for the remaining 284.
Patients were referred for 18 key symptoms, of which 5 were more common in patients with CS than in those in whom CS was ruled out: osteoporosis (8% vs 2%; P = .02), adrenal incidentaloma (17% vs 8%, P = 0.01), metabolic syndrome (11% vs 4%; P = .02), myopathy (10% vs 2%; P < .001), and presence of multiple symptoms (16% vs 1%; P < .001). Obesity was more common in patients in whom CS was ruled out (30% vs 4%, P < .001), but recent weight gain was prominent in those with CS. A total of 68 of 93 patients with CS (73%) had typical chief complaints, as did 106 of 284 of patients with ruled-out CS status (37%) according to the Endocrine Society practice guideline 2008.
The 2008 Endocrine Society Practice guideline for screening and diagnosis of CS defined at-risk populations that should undergo testing. These recommendations are still valid in 2022.
库欣综合征（CS）是一种罕见且严重的疾病，死亡率较高。患者通常在疾病晚期才被确诊。
本研究旨在探讨是否应在现行指南定义的高危人群之外对特定患者人群进行筛查。
作为前瞻性德国库欣登记研究的一部分，我们研究了 377 例疑似 CS 的患者。记录 CS 转介的主要症状。使用尿游离皮质醇、深夜唾液皮质醇和 1mg 地塞米松抑制试验以及长期临床观察，93 例患者被确诊为 CS，284 例患者被排除 CS。
患者因 18 种主要症状就诊，其中 5 种在 CS 患者中更为常见：骨质疏松症（8% vs 2%，P=0.02）、肾上腺意外瘤（17% vs 8%，P=0.01）、代谢综合征（11% vs 4%，P=0.02）、肌病（10% vs 2%，P<0.001）和多种症状并存（16% vs 1%，P<0.001）。CS 排除组患者中肥胖更为常见（30% vs 4%，P<0.001），但 CS 患者中近期体重增加更为明显。93 例 CS 患者中有 68 例（73%）有典型的主要症状，284 例 CS 排除患者中有 106 例（37%）符合 2008 年内分泌学会实践指南的要求。
2008 年内分泌学会 CS 筛查和诊断实践指南定义了应进行检测的高危人群。这些建议在 2022 年仍然有效。
