Abstract
BackgroundResistance 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 presentationWe 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.ConclusionsThyroid 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.
Highlights
Resistance to thyroid hormones – RTH (OMIM 190160, 188570, 145650) is a rare condition characterised by increased levels of thyroid hormones and inappropriately unsuppressed levels of Thyroid stimulating hormone (TSH), often in the normal or even increased range [1,2,3]
Thyroid hormone resistance continues to be an un(der)- and misdiagnosed thyroid condition whose management is challenging when associated with autoimmune thyroid disease
Whole exome sequencing has the potential to identify Thyroid hormone receptor beta subunit gene (THRB) pathogenic variants as incidental findings. Reporting such secondary findings from genomic testing may be important in the context of the rarity of the condition and the potential clinical consequences of misdiagnosis and mistreatment
Summary
Thyroid hormone resistance continues to be an un(der)- and misdiagnosed thyroid condition whose management is 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 important in the context of the rarity of the condition and the potential clinical consequences of misdiagnosis and mistreatment
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