Familial goiter with defect in intrinsic metabolism of thyroxine without hypothyroidism

A family of six Negro children,four of whom had goiters, has been described. The goitrous children were found to have a defect in organic binding of iodine, as shown by the release of thyroidal radioiodine after the administration of potassium thiocyanate. Of great interest was the fact that these children have remained euthyroid as determined by clinical and laboratory observations. Studies of thyroid metabolism have been presented and the histopathology of a thyroid biopsy from one of the children has been described. It was concluded that this familyof goitrous children clearly demonstrated examples of “simple” nontoxic goiter due to an intrinsic metabolic defect in thyroxine synthesis.