{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:00Z","timestamp":1784557020613,"version":"3.55.0"},"reference-count":17,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,4,1]]},"abstract":"\n Summary<\/jats:title>\n The resistance to thyroid hormone syndrome (RTH\u03b2) 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 THR\u03b2 gene (Pro453Ser), thus leading to an RTH\u03b2 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.<\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n RTH\u03b2 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.<\/jats:p>\n <\/jats:list-item>\n \n Features of thyroid hormone deficiency in TR-\u00df dependent tissues (pituitary gland, hypothalamus, liver and neurosensitive epithelia), as well as thyroid hormone excess in TR-\u03b1-dependent tissues (heart, bone, skeletal muscle and brain), may coexist in the same individual.<\/jats:p>\n <\/jats:list-item>\n \n 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\u2019s phenotype.<\/jats:p>\n <\/jats:list-item>\n \n Differentiating RTH\u03b2 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.<\/jats:p>\n <\/jats:list-item>\n \n Genetic testing is fundamental to prevent unnecessary and potentially harmful therapies.<\/jats:p>\n <\/jats:list-item>\n \n Medical treatment with triiodothyroacetic acid was demonstrated to be effective in reducing thyroid hormone excess and controlling symptoms.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-23-0146","type":"journal-article","created":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T06:29:06Z","timestamp":1713335346000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Challenging diagnosis of resistance to thyroid hormone in a patient with COVID-19, pituitary microadenoma and unusual response to octreotide long-acting release test"],"prefix":"10.1530","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9541-788X","authenticated-orcid":true,"given":"Cristian","family":"Petolicchio","sequence":"first","affiliation":[{"name":"Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Brasili","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Gay","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Cocchiara","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Campi","sequence":"additional","affiliation":[{"name":"Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2068-9581","authenticated-orcid":true,"given":"Luca","family":"Persani","sequence":"additional","affiliation":[{"name":"Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"Vera","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Ferone","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy"},{"name":"Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5062-9208","authenticated-orcid":true,"given":"Federico","family":"Gatto","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"768","article-title":"Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism","volume":"99","author":"Refetoff","year":"2014","unstructured":"Refetoff SBassett JHBeck-Peccoz PBernal JBrent GChatterjee KDe Groot LJDumitrescu AMJameson JLKopp PA, et al.Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. 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