Thyroid hormone resistance and large goiter mimicking infiltrative carcinoma in a pediatric patient.

Autor:	Baxter C; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Martinez-Rios C; Department of Medical Imaging, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Ahmet A; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Jan 25; Vol. 37 (2), pp. 179-183. Date of Electronic Publication: 2024 Jan 25 (Print Publication: 2024).
DOI:	10.1515/jpem-2023-0466
Abstrakt:	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. (© 2023 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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