Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

MONDO:0700478

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.

1 clinical trial for this condition and its sub-types.

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