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

Abstract readCase Reports

In one paragraph

Article in Thyroid research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

6 authors.

Todor ArsovChina-Australia Centre for Personalised Immunology, Shanghai Renji Hospital, Shanghai Jioatong University, Shanghai, China.

Chengmei XieChina-Australia Centre for Personalised Immunology, Shanghai Renji Hospital, Shanghai Jioatong University, Shanghai, China.

Nan ShenChina-Australia Centre for Personalised Immunology, Shanghai Renji Hospital, Shanghai Jioatong University, Shanghai, China.

Dan Andrews2Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Canberra, Australia.

Carola G Vinuesa *China-Australia Centre for Personalised Immunology, Shanghai Renji Hospital, Shanghai Jioatong University, Shanghai, China.

Olivija Vaskova *Institute of Pathophysiology and Nuclear Medicine, University Clinical Hospital, Skopje, Macedonia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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 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"

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

Indexed as

Genomic testingHashimoto thyroiditisResistance to thyroid hormonesWhole exome sequencing

Identifiers

PMID31341516

DOI10.1186/s13044-019-0068-y

PMCPMC6631449

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