Clinical Overview > Condition/ Syndrome

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Gemma Xifra Departments of Diabetes, Endocrinology and Nutrition, Hospital Dr Josep Trueta, Girona, Spain

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Silvia Mauri Departments of Diabetes, Endocrinology and Nutrition, Hospital Dr Josep Trueta, Girona, Spain

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Jordi Gironès Surgery, Hospital Dr Josep Trueta, Girona, Spain

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José Ignacio Rodríguez Hermosa Surgery, Hospital Dr Josep Trueta, Girona, Spain

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Josep Oriola Biochemistry and Molecular Genetics Department, CDB Hospital Clinic, Barcelona, Spain

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Wifredo Ricart Departments of Diabetes, Endocrinology and Nutrition, Hospital Dr Josep Trueta, Girona, Spain

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José Manuel Fernández-Real Departments of Diabetes, Endocrinology and Nutrition, Hospital Dr Josep Trueta, Girona, Spain
CIBERobn, pathophysiology of obesity and nutrition, Spain

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Summary

Background: Thyroid hormone resistance (RTH) is a rare cause of thyroid dysfunction. High TSH levels, as described in RTH syndrome, are known to be associated with an increased risk of developing thyroid nodules with subsequent growth and malignancy.

Patient findings: In 2006, a 29-year-old Caucasian man presented with a palpable mass in the neck. Increased free thyroxine and triiodothyronine levels were found in the context of unsuppressed TSH levels, despite no signs or symptoms of hyperthyroidism. Ultrasonography revealed a multinodular and enlarged goitre, and fine-needle aspiration cytology revealed suspicious features of malignancy. After excluding pituitary tumour and levothyroxine (l-T4) treatment, the patient was diagnosed with generalized RTH. Screening for all the known mutations in thyroid hormone receptor-β (TR β (THRB)) was negative. Thyroidectomy disclosed five Hürthle adenomas and three hyperplasic nodules. Euthyroidism was achieved after surgery with 6.1 μg/kg per day of l-T4.

Conclusion: RTH may be a risk factor that predisposes to the development of multiple Hürthle cell adenomas. To our knowledge, this is the first case of multiple Hürthle cell adenomas in a patient with RTH.

Learning points

  • High TSH levels, as described in RTH syndrome, are known to be associated with an increased risk of developing thyroid nodules, with subsequent growth and malignancy.

  • The exact role of TR β mutants in thyroid carcinogenesis is still undefined.

  • We report the first case of multiple Hürthle cell adenomas associated with RTH.

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