Thyroid hormone unresponsiveness is an autosomal dominant disorder of thyroid hormone resistance caused by mutations of the throid hormon receptor genes beta (THRB) and alpha (THRA) subunits. The clinical picture includes hight levels of thyroid hormone. TSH is also hight and stimulated the growth of the thyroid gland (goiter). The hight TSH levels require inapproprately hight doses of thyroid homone.
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OMIM.ORG article Omim 188570 |
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Orphanet article Orphanet ID 97927 |