Couch R M, Hughes I A, DeSa D J, Schiffrin A, Guyda H, Winter J S
Am J Hum Genet. 1986 Dec;39(6):811-6.
Eighteen members of an extended pedigree have been found to have a form of euthyroid adolescent multinodular goiter. Histological examination showed multiple adenomata with areas of epithelial hyperplasia, hemorrhage, and calcification. In two subjects there were focal areas of epithelial hyperplasia reminiscent of low-grade papillary carcinoma, but capsular and vascular invasion was not found. The pattern of inheritance appeared to be autosomal dominant, with diminished penetrance in males. Although the patients were euthyroid, the likely basis for this disorder is an abnormality in thyroglobulin structure and function.
在一个大家族中发现18名成员患有一种甲状腺功能正常的青少年多结节性甲状腺肿。组织学检查显示有多个腺瘤,伴有上皮增生、出血和钙化区域。在两名受试者中存在局灶性上皮增生区域,类似于低级别乳头状癌,但未发现包膜和血管侵犯。遗传模式似乎是常染色体显性遗传,男性的外显率降低。虽然患者甲状腺功能正常,但这种疾病可能的基础是甲状腺球蛋白结构和功能异常。