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Thyroid function in patients with Pendred’s syndrome

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Abstract

Thyroid function was studied in 17 unrelated patients with Pendred’s syndrome. Fourteen patients had been treated with L-thyroxine, which was withdrawn during the investigation. Eight of the patients had previously had a thyroid resection. Thirteen patients had goiter at the time of study. The serum total thyroxine and serum total triiodothyronine concentrations were normal in 8, of whom 3 had elevated serum TSH concentrations. In the remaining 9 cases the thyroxine levels were below normal with elevated TSH. Serum reverse triiodothyronine concentrations were decreased in 8 out of 11. Median serum thyroglobulin was 973 μg/l (range 10.9–3200 μg/1) and increased in 13. Three patients had slightly positive thyroglobulin antibodies and one with normal level was thyrodectomized. Thyroid stimulating antibodies as measured by adenylate cyclase stimulation (median 114%, range 85–137%) were slightly increased in 11. When measured as TSH binding inhibiting immunoglobulins none were positive. Thyroid microsomal antibodies were negative in all. All patients with a detectable 131I uptake (n = 15) showed a pathological iodide perchlorate discharge test (median 32%, range 16–46%). These findings indicate an organification defect with impaired hormone synthesis.

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Authors and Affiliations

  1. Department of Medicine, Division of Endocrinology, DK-2000, Copenhagen F

    J. Friis, U. Feldt-Rasmussen, K. Bech & T. Friis

  2. the ENT-Department, Gentofte County Hospital, DK-2930 Hellerup, Copenhagen, Denmark

    T. Johnsen

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  1. J. Friis
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  2. T. Johnsen
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  3. U. Feldt-Rasmussen
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  4. K. Bech
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  5. T. Friis
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Friis, J., Johnsen, T., Feldt-Rasmussen, U. et al. Thyroid function in patients with Pendred’s syndrome. J Endocrinol Invest 11, 97–101 (1988). https://doi.org/10.1007/BF03350112

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