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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1986 Dec;39(6):811–816.

An autosomal dominant form of adolescent multinodular goiter.

R M Couch, I A Hughes, D J DeSa, A Schiffrin, H Guyda, J S Winter
PMCID: PMC1684131  PMID: 3799599

Abstract

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.

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Selected References

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