Thyroid function in patients with Pendred's syndrome

J Endocrinol Invest. 1988 Feb;11(2):97-101. doi: 10.1007/BF03350112.

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 Fourteen patients had been treated with L-thyroxine, which was withdrawn during the investigation.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 micrograms/l (range 10.9-3200 micrograms/l) 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Autoantibodies / analysis
  • Deafness / congenital*
  • Female
  • Goiter / genetics
  • Goiter / metabolism
  • Goiter / physiopathology*
  • Humans
  • Male
  • Middle Aged
  • Thyroglobulin / immunology
  • Thyroid Function Tests
  • Thyroid Gland / physiopathology*
  • Thyroidectomy
  • Thyrotropin / blood
  • Thyroxine / blood
  • Triiodothyronine / blood

Substances

  • Autoantibodies
  • Triiodothyronine
  • Thyrotropin
  • Thyroglobulin
  • Thyroxine