One type of familial goiter is characterized by impaired organification of iodide by the thyroid, and its metabolic status ranges from severe cretins to euthyroidism. Since the description of familial goiter associated with defects in hormonal
synthesis
by Stanbury and Hedge in 1950, a number of case reports have detailed hypothyroidism or cretinism associated with inability of the thyroid to organify iodied. It's incidence was reported to 1/30,000-50,000.
In our country, it is rare disease with few case reports and its incidence is not known. Recently, we experienced a case of familial goiter due to orgnification defect in siblings which was diagnosed by perchlorate discharge test.
So, we present this case with a review of literatures. (J Kor Soc Endocrinol 7 : 391 ~ 396, 1992)
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