Resistance to thyroid hormone caused by a mutation of the thyroid receptor gene in a family over three generations

Thyroid hormone resistance syndrome (RTH) is a rare condition with an occurrence of one case per 40,000-50,000 live births. Here we report a THRB gene mutation (C446S) within a family. A man was found to have abnormal thyroid function during physical examination, and then received intermittent anti-hyperthyroidism treatment with poor effect, and progressed to exhibit symptoms of palpitations. After improving the genetic test in our hospital, we found the mutation of C446S in the THRB gene at the same site in the genetic testing of the patient and his family members. More mutations, as well as the possible mechanisms for these mutations, need to be identified in future studies.