Malchoff Carl D, Malchoff Diana M
Division of Endocrinology, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA.
Endocrinol Metab Clin North Am. 2005 Jun;34(2):315-26, viii. doi: 10.1016/j.ecl.2005.02.002.
This article emphasizes the disorders caused by mutations and polymorphisms of the alpha form of the glucocorticoid receptor. These disorders usually present with increased circulating cortisol concentrations and must be distinguished from Cushing's syndrome, because the therapies are markedly different. The other disorders present with clinical features limited to a specific organ system. Although they illustrate important physiologic and pathophysiologic principles, they usually are not confused with Cushing's syndrome.
本文着重介绍了由糖皮质激素受体α型突变和多态性引起的疾病。这些疾病通常表现为循环皮质醇浓度升高，必须与库欣综合征相鉴别，因为两者的治疗方法明显不同。其他疾病表现出局限于特定器官系统的临床特征。尽管它们阐释了重要的生理和病理生理原理，但通常不会与库欣综合征混淆。
