Tabarin Antoine, Assié Guillaume, Barat Pascal, Bonnet Fidéline, Bonneville Jean François, Borson-Chazot Françoise, Bouligand Jérôme, Boulin Anne, Brue Thierry, Caron Philippe, Castinetti Frédéric, Chabre Olivier, Chanson Philippe, Corcuff Jean Benoit, Cortet Christine, Coutant Régis, Dohan Anthony, Drui Delphine, Espiard Stéphanie, Gaye Delphine, Grunenwald Solenge, Guignat Laurence, Hindie Elif, Illouz Frédéric, Kamenicky Peter, Lefebvre Hervé, Linglart Agnès, Martinerie Laetitia, North Marie Odile, Raffin-Samson Marie Laure, Raingeard Isabelle, Raverot Gérald, Raverot Véronique, Reznik Yves, Taieb David, Vezzosi Delphine, Young Jacques, Bertherat Jérôme
Service Endocrinologie, Diabète et Nutrition, Université, Hôpital Haut-Leveque CHU de Bordeaux, 33604 Pessac, France.
Centre de Référence Maladies Rares de la Surrénale (CRMRS), Service d'Endocrinologie, Hôpital Cochin, AP-HP, Université de Paris, Paris, France.
Ann Endocrinol (Paris). 2022 Apr;83(2):119-141. doi: 10.1016/j.ando.2022.02.001. Epub 2022 Feb 19.
Cushing's syndrome is defined by prolonged exposure to glucocorticoids, leading to excess morbidity and mortality. Diagnosis of this rare pathology is difficult due to the low specificity of the clinical signs, the variable severity of the clinical presentation, and the difficulties of interpretation associated with the diagnostic methods. The present consensus paper by 38 experts of the French Society of Endocrinology and the French Society of Pediatric Endocrinology and Diabetology aimed firstly to detail the circumstances suggesting diagnosis and the biologic diagnosis tools and their interpretation for positive diagnosis and for etiologic diagnosis according to ACTH-independent and -dependent mechanisms. Secondly, situations making diagnosis complex (pregnancy, intense hypercortisolism, fluctuating Cushing's syndrome, pediatric forms and genetically determined forms) were detailed. Lastly, methods of surveillance and diagnosis of recurrence were dealt with in the final section.
库欣综合征的定义是长期暴露于糖皮质激素,导致发病率和死亡率过高。由于临床体征的特异性低、临床表现的严重程度不一以及诊断方法解释方面的困难,这种罕见病症的诊断颇具难度。由法国内分泌学会以及法国儿科内分泌与糖尿病学会的38位专家撰写的这份共识文件,首先旨在详细说明提示诊断的情况、生物学诊断工具及其对根据促肾上腺皮质激素(ACTH)非依赖性和依赖性机制进行确诊及病因诊断的解读。其次,详细阐述了使诊断变得复杂的情况(妊娠、严重皮质醇增多症、波动性库欣综合征、儿科形式和基因决定形式)。最后,在最后一部分讨论了复发的监测和诊断方法。