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  • Author: Federico Gatto x
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Cristian Petolicchio Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

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Sara Brasili Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

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Stefano Gay Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Francesco Cocchiara Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Irene Campi Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Luca Persani Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Lara Vera Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Diego Ferone Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy
Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Federico Gatto Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Summary

The resistance to thyroid hormone syndrome (RTHβ) occurs uncommonly and requires a high level of clinical suspicion and specific investigations to reach a precise diagnosis and to avoid unnecessary and potentially harmful therapies. We report a case of a young male patient referred to our unit for SARS-CoV-2 infection and atrial fibrillation with elevated thyroid hormones and non-suppressed thyroid-stimulating hormone (TSH), for which antithyroid therapy was prescribed. A mood disorder was reported in the medical history. The family history was unknown as the patient was adopted. Thyroid-specific antibodies were undetectable, and thyroid ultrasound revealed a normal thyroid gland without nodules. After the resolution of SARS-CoV-2 infection, the diagnostic workup continued, and the pituitary MRI revealed a small area ascribable to a microadenoma. Due to atrial fibrillation, the execution of the T3 test was contraindicated. The octreotide long-acting release (LAR) test showed an initial reduction of free thyroid hormones levels at first administration, which was consistent with the presence of a TSH-secreting pituitary tumour, although an escape from the response was observed after the following two injections of octreotide LAR. Indeed, the genetic investigation revealed a variant in heterozygosity of the THRβ gene (Pro453Ser), thus leading to an RTHβ diagnosis, and, therefore, medical treatment with triiodothyroacetic acid was initiated. After 2 years from the SARS-CoV-2 infection, the patient continues the follow-up at our outpatient clinic, and no other medical interventions are needed.

Learning points

  • RTHβ is a rare genetic syndrome characterised by discrepant thyroid function tests and by a dissociation between the observed hormone levels and the expected patient signs and symptoms.

  • Features of thyroid hormone deficiency in TR-ß dependent tissues (pituitary gland, hypothalamus, liver and neurosensitive epithelia), as well as thyroid hormone excess in TR-α-dependent tissues (heart, bone, skeletal muscle and brain), may coexist in the same individual.

  • Clinical pictures can be different even when the same variant occurs, suggesting that other genetic and/or epigenetic factors may play a role in determining the patient’s phenotype.

  • Differentiating RTHβ from a TSH-secreting pituitary tumour is very difficult, especially when a concomitant pituitary adenoma is detected during diagnostic workup. The injection of long-acting somatostatin analogues can help differentiate the two conditions, but it is important to detect any interference in the dosage of thyroid hormones to avoid an incorrect diagnosis.

  • Genetic testing is fundamental to prevent unnecessary and potentially harmful therapies.

  • Medical treatment with triiodothyroacetic acid was demonstrated to be effective in reducing thyroid hormone excess and controlling symptoms.

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