The syndrome of congenital goiter with butanol-insoluble serum iodine

Abstract

Clinical and laboratory data on five patients suffering from one variety of congenital hypothyroidism with goiter are reported, and similar cases from the literature are reviewed. In these patients hypothyroidism and goiter develop early in life. They may suffer permanent physical and mental retardation unless the disorder is detected and adequate replacement therapy is given. There is increased RaI 131 uptake by the thyroid and no release of I 131 upon administration of potassium thiocyanate. The deiodinase activity is normal. An abnormal iodinated polypeptide or protein is secreted by the thyroid. It is detected by its failure to extract into n-butanol from acidified serum. A similar complex is present in the urine. Abnormalities in the distribution of I 131 in the thyroid subcellular particulate fractions and in the thyroidal proteins have been detected in the two glands which have been available for analysis. This syndrome may be the expression of a congenital defect in thyroglobulin synthesis. Similar observations in certain patients with adenomatous colloid goiter suggest that this type of congenital goiter and a type of adenomatous colloid goiter may represent different levels of expression of a common genetic defect.