PROBABLE GENETIC BASIS FOR ABNORMAL CIRCULATING IODOPROTEINS (BUTANOL-INSOLUBLE SERUM IODINE): STUDY OF A FAMILY WITH SEVERAL HYPOTHYROID MEMBERS WITH AND WITHOUT GOITER*

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Abstract
Unusual quantities of circulating iodoproteins, presumably peptide-linked iodo-amino acids, were identified in a 6-year-old hypothyroid boy with goiter, a 2-year-old hypothyroid sister without goiter, and a 59-year-old cousin who was a goitrous cretin. No autoantibodies were identified. The mother, father, a brother and both grandmothers showed no excess of iodoprotein. Chromatographic studies were conducted of the distributions of the iodinated amino acids in the butanol-soluble fractions of all subjects, in hydrolysates of the iodoproteins, and in the digest of the thyroid gland from the 6-year-old boy. The variations from normal are tabulated. The likelihood of abnormal circulating iodoproteins being due to a genetic defect in the thyroid is discussed. Case reports and a pathologic description of the goiter studied chemically are presented.

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