Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones

Todor Arsov*, Chengmei Xie, Nan Shen, Dan Andrews, Carola G. Vinuesa, Olivija Vaskova

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Background: Resistance to thyroid hormones is a very rare condition, which is often misdiagnosed and mistreated. The cases where there is a concomitant autoimmune thyroid disorder are ultra-rare and particularly challenging to treat. Diagnostic and research-based genomic testing can sometimes identify pathogenic variants unrelated to the primary reason for testing (incidental findings). Case presentation: We present a patient with thyroid resistance associated with hypothyroid Hashimoto thyroiditis. The long diagnostic odyssey spanning over 20-years included repeated misdiagnoses and mistreatments and was concluded by a research-based genomic testing, identifying a "de novo" THRB pathogenic variant. The varying sensitivity of various tissues to thyroid hormones accompanied by hypothyroid Hashimoto thyroiditis continues to pose a significant treatment challenge. Conclusions: Thyroid hormone resistance continues to be an un(der)- and misdiagnosed thyroid condition whose management is particularly challenging when associated with autoimmune thyroid disease. Whole exome sequencing has the potential to identify THRB pathogenic variants as incidental findings. Reporting such secondary findings from genomic testing may be particularly important in the context of the rarity of the condition and the potential clinical consequences of misdiagnosis and mistreatment.

    Original languageEnglish
    Article number7
    JournalThyroid Research
    Volume12
    Issue number1
    DOIs
    Publication statusPublished - 15 Jul 2019

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