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Related Experiment Videos

Thyroid function in patients with Pendred's syndrome.

J Friis1, T Johnsen, U Feldt-Rasmussen

  • 1Department of Medicine, Frederiksberg Hospital, Copenhagen, Denmark.

Journal of Endocrinological Investigation
|February 1, 1988
PubMed
Summary
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Pendred's syndrome patients exhibit impaired thyroid hormone synthesis due to an organification defect. Thyroid function tests reveal abnormalities in thyroxine, triiodothyronine, and thyroglobulin levels, confirming this defect.

Area of Science:

  • Endocrinology
  • Genetics
  • Internal Medicine

Background:

  • Pendred's syndrome is a genetic disorder associated with hearing loss and thyroid dysfunction.
  • Thyroid hormone synthesis involves iodine uptake and organification, crucial steps often impaired in Pendred's syndrome.

Purpose of the Study:

  • To investigate thyroid function and identify specific defects in patients with Pendred's syndrome.
  • To assess hormone levels, antibody status, and iodide metabolism in affected individuals.

Main Methods:

  • Evaluated thyroid function tests including serum total thyroxine, triiodothyronine, TSH, and reverse triiodothyronine.
  • Measured serum thyroglobulin and associated antibodies (thyroglobulin, microsomal, thyroid stimulating antibodies).
  • Assessed iodide organification using the perchlorate discharge test and 131I uptake.

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Main Results:

  • Abnormalities in thyroid hormone levels (low thyroxine, elevated TSH) were observed in 9 out of 17 patients.
  • Elevated serum thyroglobulin was present in 13 patients, with some showing positive thyroglobulin antibodies.
  • All patients with detectable 131I uptake demonstrated a pathological iodide perchlorate discharge test, indicating an organification defect.

Conclusions:

  • The study confirms an organification defect in thyroid hormone synthesis in patients with Pendred's syndrome.
  • Impaired hormone synthesis is a key feature contributing to thyroid dysfunction in this condition.
  • Findings highlight the importance of comprehensive thyroid function assessment in Pendred's syndrome management.