Stephen Spaulding, M.D.; Gerard Burrow, M.D., F.A.C.P.; Nicholas Alexander, Ph.D.; Bruce Bower, M.D., F.A.C.P.
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Familial goiter due to defective iodide organification has been divided into three genetic types. Type A, with cretinism, lacks peroxidase activity completely. Type C, with euthyroidism, apparently reflects a defect in the association of the hematin prosthetic group with the peroxide apoenzyme. Type B is Pendred's syndrome, with euthyroidism and nerve deafness, but no specific enzyme defect is known.
Our patient, a 12-year-old girl, had a goiter, nerve deafness, and a positive Perchlorate discharge, as did both of her parents and all five siblings. The void volume from Sephadex G-200 chromatography of a 105 000 g supernatant contained 88% of
Spaulding S, Burrow G, Alexander N, Bower B. Normal Peroxidase Activity in Pendred's Syndrome.. Ann Intern Med. ;78:815. doi: 10.7326/0003-4819-78-5-815_2
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Published: Ann Intern Med. 1973;78(5):815.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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