Thyroid hormone resistance is characterized by euthyroid goiter despite of excessively elevated thyroid hormone levels. Goiter is caused by elevated TSH levels that require inappropriately hight doses of thyroid hormone. Several forms of thyroid hormone resistance can be distinguished. Best characterized are thyroid hormone receptor mutations. Other causes are thyroid hormone cell transport defect, thyroid hormone metabolism defect, abnormal hormone transfer to the nucleus, abnormal cofactors or interfering substances, RXRA for instance.
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OMIM.ORG article Omim 188570 |
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Orphanet article Orphanet ID 3221 |
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Wikipedia article Wikipedia EN (Thyroid_hormone_resistance) |