Abstract
Objectives
Resistance to thyroid hormone (RTH) is a genetic condition, caused by mutations in the thyroid hormone receptor gene and characterized by impaired end organ responsiveness to thyroid hormone. Here we describe a novel case of THR associated with large goiter mimicking infiltrative c.
Case presentation
A 13-year-old male with a hyperthyroid phenotype of RTH diagnosed as a toddler, on methimazole and nadolol therapies presented with an increase in goiter size and possible nodule. Thyroid ultrasound was concerning for a diffuse infiltrative process or malignancy. Methimazole was discontinued and he underwent further imaging, fine needle aspiration and core biopsies. Biopsy results were reassuring and imaging findings were subsequently attributed to RTH rather than malignancy. He started every other day liothyronine therapy, which led to a decrease in goiter size, thyroglobulin level, and improvement of hyperthyroid symptoms.
Conclusions
This is the first case to our knowledge describing the above thyroid imaging findings in association with RTH. It also adds important information to the pediatric literature regarding management of the hyperthyroid phenotype of RTH, including the role of liothyronine therapy.
Acknowledgments
Sincere thanks to Dr. Jonathan D. Wasserman, Dr. Roy Weiss and Dr. Samuel Refetoff for their expertise, support and collaboration in caring for this patient.
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Research ethics: Ethics approval is not required by the Children’s Hospital of Eastern Ontario Research Institute research ethics board for case reports.
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Informed consent: Signed informed consent was obtained directly from the patient’s guardians.
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Author contributions: All authors made individual contributions to authorship. AA was involved in the diagnosis and management of this patient and participated in the writing and revision of the manuscript and approved the final version for submission. CMR was involved in the detailed review of all patient imaging studies and in revision of the manuscript and approved the final version for submission. CB completed the chart and literature review, wrote the initial version of the manuscript, edited the manuscript, and produced the final version for submission.
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Competing interests: Authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
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