Congenital Goiter with Hypothyroidism and Iodo-Serum Albumin Replacing Thyroglobulin

Abstract

The thyroid tissue of a 12-yr-old boy with congenital goiter and hypothyroidism has been studied. Thyroglobulin was practically absent and replaced by iodinated albumin-like proteins, one of which has been identified as serum albumin by amino acid composition, molecular weight and immunoelectrophoresis. The iodo-serum albumin contained both iodotyrosines and iodothyronines and was probably present in the serum. Triiodothyronine was the major circulating hormone and free iodotyrosines were found in blood and urine. The presence of the same type of goiter in the patient's sister and of goiters in the mother and the mother's sister strongly suggests that the disease is heredofamilial. The nature of the possible defect(s) responsible for this category of familial goiter is discussed.