Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation

    October 2024 in “ Journal of the Endocrine Society ”
    Emily McBride, Richard Kennedy, Ashlyn Davis, S J Healy
    TLDR Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
    A 35-year-old female with a THRB gene mutation, indicating resistance to thyroid hormone (RTH), was misdiagnosed with Graves' disease and underwent unnecessary radioactive iodine (RAI) treatment. Her lab results showed elevated T4 and T3 with normal TSH, and genetic testing identified a mutation in the THRB gene affecting T3 binding affinity. This case highlights the importance of thorough record review and correlation of thyroid function tests with imaging to avoid misdiagnosis. It also underscores the challenges in managing thyroid hormone levels in RTH patients post-ablation.
    Discuss this study in the Community →