HYPOTHYROIDISM AS AN INBORN ERROR OF METABOLISM

Abstract

The clinical features of 13 hypothyroid children with enlarged thyroid glands were described, and the results of radioactive iodine (I131) studies were discussed. Eight were members of 1 family group in which the family-tree indicated a recessive mode of inheritance; 2 were members of a 2d family; and 3 were unrelated. The I131 studies showed that non-endemic goitrous cretinism or juvenile myxedema might occur in the presence of a thyroid gland which was able and eager to take up I, to link it to protein, and to release it into the circulation in an organic form which was not thyroxine or triiodothyronine. It is postulated that in such cases there is an inborn and intrinsic defect in hormone synthesis.