Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease-A case report.

ABSTRACT: Resistance to thyroid hormone (RTH) is a syndrome characterized by impaired responsiveness of target tissues to thyroid hormones. The relationship between RTHβ and thyroid autoimmunity has been under research. In this study, we demonstrate a case report of a woman with a novel mutation in THRβ gene coexisting with autoimmune thyroid disease (AITD). The 36-year-old woman has been treated since childhood for a thyroid disease. Based on high levels of thyroid hormones (THs) and elevated concentrations of thyroperoxidase and thyroglobulin antibodies (TPOAb and TgAb, respectively), she received unnecessary long-term treatment with methimazole and finally underwent subtotal thyroidectomy. After the surgery, her TSH level remained significantly elevated, despite the treatment with 1

SUBMITTER: Skowronska-Jozwiak E 

PROVIDER: S-EPMC10111252 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature