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Thyroid abnormalities in patients with myotonic dystrophy.

K S Steinbeck, J N Carter

    Clinical Endocrinology
    |November 1, 1982
    PubMed
    Summary
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    Myotonic dystrophy (MD) patients show increased thyroid abnormalities and reduced thyroid-stimulating hormone (TSH) responses to TRH stimulation, despite normal circulating thyroid hormone levels. This suggests subtle thyroid dysfunction in MD.

    Area of Science:

    • Endocrinology
    • Genetics
    • Neuromuscular Disorders

    Background:

    • Myotonic dystrophy (MD) is a genetic disorder primarily affecting muscles.
    • Endocrine disturbances are known in MD, but thyroid involvement is poorly understood.
    • Existing data on thyroid gland function in MD are sparse and inconsistent.

    Purpose of the Study:

    • To investigate thyroid gland involvement in patients with Myotonic dystrophy.
    • To compare thyroid function and hormone levels between MD patients and healthy controls.
    • To assess the frequency of thyroid abnormalities in MD.

    Main Methods:

    • Studied twenty MD patients and twenty age- and sex-matched controls.
    • Assessed clinical thyroid status, circulating thyroid hormones (T4, T3, rT3), TSH levels, and T3 resin uptake.

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  • Performed TRH stimulation tests to evaluate TSH response and conducted thyroid scans.
  • Main Results:

    • All subjects were clinically euthyroid with no significant differences in circulating T4, T3, rT3, TSH, or T3 resin uptake.
    • MD patients exhibited significantly blunted TSH responses to TRH stimulation compared to controls.
    • Palpable thyroid abnormalities (multinodular goitres, single nodule) occurred in 15% of MD patients.

    Conclusions:

    • Palpable thyroid abnormalities are more frequent in MD patients than previously reported.
    • Myotonic dystrophy is associated with a reduced TSH response to TRH stimulation.
    • Circulating thyroid hormone levels are typically normal in MD patients.