Thyroidal iodoproteins in pendred's syndrome

Desai, K. B. ; Mehta, M. N. ; Patel, M. C. ; Ramanna, L. ; Ganatra, R. D. (1974) Thyroidal iodoproteins in pendred's syndrome Journal of Endocrinology, 63 . pp. 409-410. ISSN 0022-0795

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Pendred's syndrome is characterized by familial goitre, nerve deafness and a partial release of radio-iodine from the thyroid on perchlorate administration. This last was thought to be due to impaired activity of peroxidase enzymes or to some abnormality of receptor proteins where iodination occurs. Burrow, Spaulding, Alexander & Bower (1973) reported that peroxidase activity in such patients is normal but studies on thyroidal iodoproteins have shown variable results(Medeiros-Neto, Nicolau, Kieffer & Ulhoa-Cintra, 1968; Milutinovic et al. 1969). A 22-year-old deaf-mute woman (N.G.) with a goitre which had progressively increased in size from infancy was euthyroid in all respects: basal metabolic rate, 10.0%; serum cholesterol concn, 174.3 mg/100 ml; tri-iodothyronine (T3) red blood cell uptake, 14.6%; stable protein-bound iodine levels, 5.7 μg/100 ml. Radioactive iodine uptake by the thyroid was 65.7%.

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