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[Misinterpretation of thyroid function caused by alteration in thyroxine binding globulin concentration (author's
Summary
Thyroxine-binding globulin (TBG) alterations in two children led to misdiagnosis of thyroid disorders. Correct diagnosis of TBG elevation or deficiency was established through quantitative TBG determination.
Area of Science:
- Endocrinology
- Clinical Biochemistry
- Genetics
Background:
- Thyroxine-binding globulin (TBG) is crucial for thyroid hormone transport.
- Alterations in TBG levels can mimic thyroid dysfunction, leading to diagnostic challenges.
- Undiagnosed TBG variations can result in inappropriate treatment for thyroid disorders.
Observation:
- Two children presented with paradoxical thyroid function test results.
- One child had elevated thyroid hormones with high T3-uptake, suggesting TBG increase.
- Another child had low thyroid hormones with low T3-uptake, indicating TBG deficiency.
Findings:
- Quantitative TBG determination confirmed TBG elevation in the first child.
- Quantitative TBG determination confirmed TBG deficiency in the second child.
- These findings resolved the diagnostic discrepancies caused by TBG alterations.
Implications:
- Accurate diagnosis of TBG abnormalities is essential for appropriate patient management.
- Misinterpretation of thyroid function tests in TBG disorders can lead to incorrect treatment.
- Genetic testing for TBG variants may be considered in unexplained thyroid function abnormalities.