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Radiation Medicine Centre, Bio-Medical Group, Bhabha Atomic Research Centre, Tata Memorial Hospital, Parel, Bombay-12, India
(Received 25 March 1974)
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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SUMMARY
Two siblings, a brother (H. B.) and a sister (R. B.) with long standing goitres were investigated. Radioactive iodine uptake by the thyroid was increased and a significant portion of the plasma radioactive iodine was not extractable with butanol. Chromatography of butanol extracts of serum after radioactive iodine administration showed distinct peaks of triiodothyronine and thyroxine. Microscopic examination of the surgical specimens of the goitres showed Hürthle cell carcinoma with follicles devoid of colloid in both specimens. Sucrose density gradient centrifugation, gel filtration on Sephadex G-200, salting out procedures, starch gel electrophoresis and immunological tests of the supernatant soluble fraction of thyroid homogenates showed a lack of thyroglobulin. Further fractionation of the soluble proteins showed that albumin was apparently involved in the synthesis of thyroid hormones in the absence of thyroglobulin.
