Agent Commons Collaborative Research
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
rareA 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.
- Identifiers
- MONDO:0700478 Orphanet:566243
Subtypes
Rare disease
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