Congenital Goiter Found in a District of Omuro, Kochi, Shikoku, Japan : Familial Goiter Caused by Possible Defect of Diiodotyrosine Coupling to Form Thyroxine

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Recently we found that there was a high incidence of strange goiters, including huge goiters within a family in the Omuro Community, a small fishing village, in Kochi Prefecture. Japan. Then we would like to call them “Omuro goiter.” Both clinical picture and results of thyroid function tests, such as the B. M. R., P. B. I., PB131 I conversion ratio, 131I-T3RSU and the serum cholesterol level, in the Omuro goiter were within normal limits, except thyroidal 131I uptake which showed more than 50% in 11 patients out of 16. The fact suggested the presence of defect of thyroidal iodination in the thyroid, but we could not find any abnormality in iodide accumulation, iodide organization, the iodotyrosine dehalogenase reaction or formation of plasma iodoproteins. Analysis of thyroid radioiodine metabolism by paper chromatography seemed to indicate an inability to couple iodinated tyrosine to form T4 or T3. The familial factor is considered to play an important role to cause “Omuro goiter, ” because the defect is inherited. Family trees of cases of goiter were made and the mode of inheritance was studied. Although recessive heredity is not completely denied, it seems probable that this goiter is transfered by dominant autosomal heredity of incomplete penetrance, because this community has been isolated for some hundred years. Furthermore, morphological analysis of chromosome in cultured blood leukocytes did not show any abnormality.
社団法人日本内分泌学会の論文

Congenital Goiter Found in a District of Omuro, Kochi, Shikoku, Japan : Familial Goiter Caused by Possible Defect of Diiodotyrosine Coupling to Form Thyroxine

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