Recommendations of the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism for the diagnosis of Cushing’s disease in Brazil

ABSTRACT Although it is a rare condition, the accurate diagnosis and treatment of Cushing’s disease is important due to its higher morbidity and mortality compared to the general population, which is attributed to cardiovascular diseases, diabetes mellitus and infections. Screening for hypercortisolism is recommended for patients who present multiple and progressive clinical signs and symptoms, especially those who are considered to be more specific to Cushing’s syndrome, abnormal findings relative to age (e.g., spinal osteoporosis and high blood pressure in young patients), weight gain associated with reduced growth rate in the pediatric population and for those with adrenal incidentalomas. Routine screening is not recommended for other groups of patients, such as those with obesity or diabetes mellitus. Magnetic resonance imaging (MRI) of the pituitary, the corticotropin-releasing hormone (CRH) test and the high-dose dexamethasone suppression test are the main tests for the differential diagnosis of ACTH-dependent Cushing’s syndrome. Bilateral and simultaneous petrosal sinus sampling is the gold standard method and is performed when the triad of initial tests is inconclusive, doubtful or conflicting. The aim of this article is to provide information on the early detection and establishment of a proper diagnosis of Cushing’s disease, recommending follow-up of these patients at experienced referral centers. Arch Endocrinol Metab. 2016;60(3):267-86

摘要 尽管库欣病（Cushing’s disease）属于罕见病症，但相较于普通人群，其发病率与死亡率更高，且致死原因多为心血管疾病、糖尿病及感染，因此准确诊断与治疗库欣病至关重要。对于出现多种进行性临床体征与症状的患者，尤其是表现出库欣综合征（Cushing’s syndrome）特异性症状、存在与年龄不符的异常检查结果（如青年患者出现脊柱骨质疏松与高血压）、儿科人群中伴随生长速率减缓的体重增加，以及存在肾上腺意外瘤（adrenal incidentalomas）的患者，推荐开展皮质醇增多症（hypercortisolism）筛查。而对于肥胖或糖尿病等其他人群，则不推荐进行常规筛查。垂体磁共振成像（MRI）、促肾上腺皮质激素释放激素（CRH）试验以及大剂量地塞米松抑制试验，是鉴别诊断促肾上腺皮质激素依赖性库欣综合征的主要检测手段。双侧同时岩下窦采血采样为金标准检测方法，当初始三项检测结果不明确、存疑或相互矛盾时，可采用该方法。本文旨在为库欣病的早期发现与恰当诊断提供相关信息，并建议此类患者在经验丰富的转诊中心接受随访。《内分泌代谢学档案》（Arch Endocrinol Metab）2016;60(3):267-86