Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Synonyms: RTHb | Resistance to thyroid hormone beta | Resistance to thyroid hormone due to a mutation in TRb
A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones normal or elevated thyroid-stimulating hormone decreased peripheral tissue responses to iodothyronine action and a highly variable clinical phenotype which most commonly includes goiter resting tachycardia osteoporosis short stature and attention deficit disorder. Some patients may be entirely asymptomatic.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta?
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