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SIDNEY C. WERNER, RICHARD J. BLOCK, RICHARD H. MANDL, PROBABLE GENETIC BASIS FOR ABNORMAL CIRCULATING IODOPROTEINS (BUTANOL-INSOLUBLE SERUM IODINE): STUDY OF A FAMILY WITH SEVERAL HYPOTHYROID MEMBERS WITH AND WITHOUT GOITER, The Journal of Clinical Endocrinology & Metabolism, Volume 20, Issue 2, 1 February 1960, Pages 205–213, https://doi.org/10.1210/jcem-20-2-205
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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.
IODOPROTEINS amino acids in polypeptide linkage, in contradistinction to carrier proteins upon which the iodinated compounds are adsorbed (1). The iodocompounds of the latter group are readily released upon butanol extraction, whereas those of the former group remain in the insoluble fraction. Until recently, circulating iodoproteins were thought to occur only in association with injury to the thyroid, such as from thyroiditis (2), surgery (3), I131 therapy (4), or thyroid cancer (5).