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

Orpha code: 566243OMIM code: 274300

Definition

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.

Disease data
Classification

Disease

Synonyms
RTHb
Oporność na hormon tarczycy beta
Oporność na hormon tarczycy z powodu mutacji w TRb
Resistance to thyroid hormone beta
Resistance to thyroid hormone due to a mutation in TRb
ORPHA code
566243
OMIM code
274300
ICD10 code
E07.8
ICD11 code
-

No additional description.

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