Journal of Endocrinological Investigation

, Volume 11, Issue 2, pp 97–101 | Cite as

Thyroid function in patients with Pendred’s syndrome

  • J. Friis
  • T. Johnsen
  • U. Feldt-Rasmussen
  • K. Bech
  • T. Friis
Article
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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 Fourteen patients had been treated with L-thyroxine, which was withdrawn during the investigation.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.

Key-words

Pendred’s syndrome hypothyroidism iodine organification defect reverse triiodothyronine thyroglobulin thyroid antibodies 
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Copyright information

© Italian Society of Endocrinology (SIE) 1988

Authors and Affiliations

  • J. Friis
    • 1
  • T. Johnsen
    • 2
  • U. Feldt-Rasmussen
    • 1
  • K. Bech
    • 1
  • T. Friis
    • 1
  1. 1.Department of Medicine, Division of EndocrinologyCopenhagen F
  2. 2.the ENT-DepartmentGentofte County HospitalCopenhagenDenmark

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