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Familial thyroxine-binding globulin deficiency.

P Torkington, R J Harrison, N F Maclagan

    British Medical Journal
    |July 4, 1970
    PubMed
    Summary
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    Genetically determined thyroxine-binding globulin deficiency, a sex-linked condition, was identified in two UK families. Affected individuals were euthyroid, highlighting the need for careful interpretation of thyroid function tests.

    Area of Science:

    • Endocrinology
    • Human Genetics

    Background:

    • Thyroxine-binding globulin (TBG) is crucial for thyroid hormone transport.
    • Genetic variations in TBG can lead to altered thyroid hormone levels.
    • Thyroxine-binding globulin deficiency is a rare inherited condition.

    Purpose of the Study:

    • To describe genetically determined thyroxine-binding globulin deficiency in two UK families.
    • To investigate the inheritance pattern and clinical presentation of TBG deficiency.
    • To emphasize accurate interpretation of thyroid function tests in cases of TBG deficiency.

    Main Methods:

    • Pedigree analysis to trace inheritance patterns.
    • Biochemical assays including serum protein-bound iodine (PBI) and thyroxine (T4) resin uptake.
    • Clinical assessment of thyroid status in affected individuals.

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    Main Results:

    • Two families with sex-linked thyroxine-binding globulin deficiency were identified.
    • Males exhibited complete absence of serum TBG, leading to low PBI and high T4 resin uptake.
    • Females showed less severe biochemical abnormalities.
    • All affected individuals were clinically euthyroid.

    Conclusions:

    • Genetically determined thyroxine-binding globulin deficiency follows a sex-linked inheritance pattern.
    • Distinct biochemical findings can diagnose TBG deficiency.
    • Careful interpretation of PBI and use of T3 or T4 resin uptake tests are essential to avoid misdiagnosis of hypothyroidism.