Peroxidase Deficiency in Familial Goiter with Iodide Organification Defect

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Abstract
A 16-year-old girl with euthyroidism and normal hearing had had a goiter since the age of six. Her 21-year-old sister also had goiter with identical clinical findings, suggesting a genetic abnormality. Fifty per cent of the thyroidal iodine was released by perchlorate, indicating a partial iodide organification defect. The thyroid tissue obtained at thyroidectomy demonstrated deficient peroxidase activity; however, normal enzyme activity was restored by the addition of hematin, the prosthetic group of peroxidase. These findings suggest a defect in binding of the prosthetic group by the apoenzyme. The thyroidal proteins were normal except that thyroglobulin was poorly iodinated. This correlated with impaired iodide organification and deficient peroxidase activity.

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