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Resistance to thyroid hormone accompanied by Graves' disease
Tsuguka Shiwa1, Kenji Oki, Tomokazu Awaya
1Department of Molecular and Internal Medicine, Graduate School of Biomedical Sciences, Hiroshima University, Japan.
Internal Medicine (Tokyo, Japan)
|September 17, 2011
Summary
Resistance to thyroid hormone (RTH) can increase the risk of autoimmune thyroid disease. This case study identifies a specific TRβ gene mutation (G251R) in a patient with Graves' disease, highlighting RTH as a consideration during treatment.
Area of Science:
- Endocrinology
- Genetics
- Immunology
Background:
- Resistance to thyroid hormone (RTH) is a rare genetic disorder characterized by impaired thyroid hormone action.
- Individuals with RTH exhibit elevated thyroid hormone levels with normal or elevated TSH, and may have an increased risk of autoimmune thyroid disease (AITD).
Observation:
- A 33-year-old woman diagnosed with Graves' disease was treated with methimazole (MMI).
- Initially, her TSH levels fluctuated with thyroid hormone levels, consistent with Graves' disease treatment.
- After three years of MMI therapy, she presented with normal to elevated TSH levels despite persistently high thyroid hormone levels, suggesting inappropriate TSH secretion.
Findings:
- Clinical diagnosis of RTH was made.
- Direct sequence analysis revealed a glycine to arginine substitution at codon 251 (G251R) in the thyroid hormone receptor beta (TRβ) gene.
- This mutation is associated with RTH.
Implications:
- The presence of elevated TSH without decreased thyroid hormones during Graves' disease treatment should prompt consideration of underlying RTH.
- Identifying RTH is crucial for accurate diagnosis and management of thyroid disorders.
- This case underscores the importance of genetic testing in complex endocrine cases.
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