Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Thyroid hormone resistance syndrome
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
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.