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Familial thyroid hormone resistance.

M H Brooks, A L Barbato, S Collins

    The American Journal of Medicine
    |September 1, 1981
    PubMed
    Summary
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    This study identifies autosomal dominant thyroid hormone resistance in a family. Affected individuals are clinically euthyroid despite high thyroid hormone levels, indicating tissue resistance.

    Area of Science:

    • Endocrinology
    • Genetics
    • Molecular Biology

    Background:

    • Thyroid hormone resistance (THR) is a rare genetic disorder.
    • Characterized by decreased target tissue response to thyroid hormones.
    • Autosomal dominant inheritance is a known pattern for some THR forms.

    Observation:

    • A kindred of 19 members spanning four generations exhibited eight affected individuals.
    • Affected members presented with goiters and significantly elevated serum levels of thyroxine (T4) and triiodothyronine (T3).
    • Serum thyrotropin (TSH) levels were normal or slightly elevated, with normal responses to thyrotropin-releasing hormone (TRH) and L-triiodothyronine administration in untreated individuals.

    Findings:

    • Clinical euthyroidism in affected individuals despite supranormal thyroid hormone levels suggests peripheral tissue resistance.

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  • Elevated TSH in two post-thyroidectomy patients indicates subclinical hypothyroidism, contrasting with euthyroid status in untreated members.
  • Normal TSH regulation and response to TRH/T3 in untreated members point to compensatory mechanisms.

    • Implications:

    • The findings support autosomal dominant inheritance of thyroid hormone resistance.
    • This suggests a compensatory increase in thyroid hormone secretion to overcome tissue resistance.
    • Understanding these mechanisms is crucial for diagnosing and managing thyroid hormone resistance syndromes.