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GTR Home > Conditions/Phenotypes > Thyroxine-binding globulin deficiency

Summary

Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems.\n\nThyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced.\n\nResearchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones.\n\nAlthough inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments. [from MedlinePlus Genetics]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: TBG, TBGQTL, SERPINA7
    Summary: serpin family A member 7

Clinical resources

Practice guidelines

  • ACMG ACT Sheet, 2011
    American College of Medical Genetics ACT SHEET, Congenital Hypothyroidism, 2011
  • ACMG Algorithm, 2009
    American College of Medical Genetics Algorithm, Congenital Hypothyroidism (T4), 2009
  • ACMG Algorithm, 2009
    American College of Medical Genetics and Genomics, Algorithm, Congenital Hypothyroidism (T4), 2009

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