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.
    The article discusses a case of a 35-year-old female patient who was misdiagnosed with Graves' disease due to elevated T4 and T3 levels with normal TSH, leading to unnecessary radioactive iodine (RAI) treatment. Genetic testing revealed a mutation in the THRB gene, specifically a c.715T>A (pTrp239Arg) variant, which is associated with resistance to thyroid hormone (RTH). This condition can mimic hyperthyroidism, complicating diagnosis and treatment. The case highlights the importance of thorough evaluation, including genetic testing and correlation of thyroid function tests with imaging, to avoid misdiagnosis and inappropriate treatment. It also emphasizes the challenges in managing thyroid hormone levels in RTH patients post-ablation.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 145 results

      community Hair transplant, dutasteride and topical minoxidil. Back from the dead.

      in Progress Pictures  64 upvotes 1 month ago
      A 24-year-old shared their successful hair restoration journey, which included a hair transplant in Turkey, dutasteride, and topical minoxidil. They also started testosterone replacement therapy, which improved their quality of life and hair condition, and they now feel confident and satisfied with the results.

      community Do any of you guys feel like your 20s have been wasted?

      in Chat  184 upvotes 1 year ago
      A user expressed frustration about hair loss and its impact on their 20s, mentioning financial struggles and mental health concerns. Responses included advice on positive thinking, self-improvement, and seeking treatment options like Minoxidil and finasteride.

      community Approve PP405 quickly you coward

      in Satire  192 upvotes 2 months ago
      Pelage Pharmaceuticals is developing PP405, a topical treatment for hair growth, currently in Phase 2a trials. There is skepticism about the company's claims, and no fast-tracking approval timeline has been detailed.

      community scarring alopecia awareness in this community

      in Chat  33 upvotes 2 years ago
      Lichen Planopilaris (LPP), a form of permanent hair loss, which can be mistaken for seborrheic dermatitis and is characterized by scalp itching, burning, redness, and dandruff. Treatment options discussed include steroidal creams, finasteride, minoxidil, and RU58841.

    Similar Research

    5 / 1000+ results