An autosomal dominant form of adolescent multinodular goiter.
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.
D000293:Adolescent; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006044:Goiter, Nodular / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006965:Hyperplasia; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013961:Thyroid Gland / Q000473:pathology