Gardner D F, Barlascini C O, Downs R W, Sahni K S
Department of Medicine, Medical College of Virginia, Richmond.
Am J Med Sci. 1989 Jun;297(6):387-9. doi: 10.1097/00000441-198906000-00012.
Hereditary Cushing's syndrome is an uncommon clinical entity, and most reported cases have been described in families with nodular adrenocortical dysplasia. Isolated cases of Cushing's disease (pituitary-dependent bilateral adrenal hyperplasia) have been reported in association with the multiple endocrine neoplasia syndrome, Type I (MEN I), but there are no published reports of pedigrees with more than one affected family member. Within a period of 8 months, two sisters presented with clinical findings suggestive of hypercortisolism, and Cushing's disease was confirmed by appropriate diagnostic studies. There was no evidence of any other endocrine excess syndrome in either patient. Transsphenoidal pituitary surgery confirmed the presence of an ACTH-immunostaining pituitary adenoma in each woman. The authors think this is the first report in the English literature of Cushing's disease in first-degree relatives.
遗传性库欣综合征是一种罕见的临床病症，大多数已报道的病例见于患有结节性肾上腺皮质发育异常的家族。曾有孤立的库欣病（垂体依赖性双侧肾上腺增生）病例报道与Ⅰ型多发性内分泌腺瘤综合征（MEN I）相关，但尚无关于有不止一名患病家庭成员的家系的公开报道。在8个月的时间内，两名姐妹出现提示高皮质醇血症的临床表现，经适当的诊断研究确诊为库欣病。两名患者均无任何其他内分泌功能亢进综合征的证据。经蝶窦垂体手术证实每名女性均存在促肾上腺皮质激素免疫染色阳性的垂体腺瘤。作者认为这是英文文献中关于一级亲属患库欣病的首例报道。
