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Related Experiment Videos

Pituitary-thyroid function in Pendred's syndrome.

A Gomez-Pan, D C Evered, R Hall

    British Medical Journal
    |April 20, 1974
    PubMed
    Summary
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    Pendred syndrome in three siblings presented with goiters, deaf-mutism, and retinal pigment deposition. Their euthyroid state was maintained by elevated triiodothyronine (T3) levels, driven by increased thyroid-stimulating hormone (TSH) due to an organification defect.

    Area of Science:

    • Endocrinology
    • Genetics
    • Ophthalmology

    Background:

    • Pendred syndrome is a genetic disorder affecting the thyroid and inner ear.
    • It is characterized by sensorineural hearing loss and goiter.
    • Thyroid dysfunction in Pendred syndrome is often associated with impaired iodine organification.

    Purpose of the Study:

    • To report on three siblings with Pendred syndrome.
    • To investigate the thyroid hormone profile and TSH response in these patients.
    • To elucidate the mechanism maintaining the euthyroid state in the presence of thyroid dysfunction.

    Main Methods:

    • Clinical examination of three siblings with Pendred syndrome.
    • Assessment of thyroid status (euthyroid).
    • Measurement of circulating triiodothyronine (T3) and thyroid-stimulating hormone (TSH) levels.

    Related Experiment Videos

  • Evaluation of TSH response to thyrotrophin-releasing hormone (TRH) stimulation.

    • Main Results:

    • All siblings presented with goiters, deaf-mutism, and retinal pigment deposition.
    • Patients were euthyroid with elevated circulating T3 levels.
    • An exaggerated TSH response to TRH was observed.
    • Unusual retinal pigment deposition was noted in all affected siblings.

    Conclusions:

    • The compensated euthyroid state in these Pendred syndrome patients was maintained by elevated T3 levels.
    • Preferential T3 production appears to be sustained by increased TSH secretion.
    • This compensatory mechanism may be linked to intrathyroidal iodine deficiency secondary to a thyroid organification defect.