{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T01:55:28Z","timestamp":1792029328155,"version":"4.4.0"},"reference-count":10,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,10,19]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>This case report presents a male child in his middle childhood, diagnosed with resistance to thyroid hormone, a rare endocrine condition marked by diminished tissue responsiveness to thyroid hormones (THs) despite elevated circulating levels. The patient presented with neck swelling, nocturnal enuresis and tachycardia. Biochemically, he had elevated free T3 and T4 with inappropriately normal thyroid-stimulating hormone (TSH) levels. Clinical features reflected a mixed state of hyper- and hypothyroidism due to differential tissue distribution of thyroid hormone receptors (TR\u03b1 and TR\u03b2). Treatment included propranolol, amitriptyline, loperamide and vitamin D supplementation, resulting in symptomatic improvement. The case underscores the importance of considering thyroid hormone resistance beta (THR\u03b2) in patients with discordant thyroid function tests and emphasises the role of genetic testing in establishing the diagnosis. It also highlights the phenotypic variability of THR\u03b2 and the need for individualised management. Differential diagnoses like TSH-producing adenoma (TSHoma), laboratory assay interference and drug-induced thyroid dysfunction were ruled out.<\/jats:p>","DOI":"10.1136\/bcr-2025-267068","type":"journal-article","created":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T06:50:26Z","timestamp":1762325426000},"page":"e267068","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Resistance to thyroid hormone: clinical and biochemical paradox"],"prefix":"10.1136","volume":"18","author":[{"given":"Shivani","family":"Sidana","sequence":"first","affiliation":[{"name":"Associate Professor, Endocrinology, All India Institute of Medical Sciences, Bathinda, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3141-3230","authenticated-orcid":false,"given":"Rajat","family":"Singh","sequence":"additional","affiliation":[{"name":"Junior Resident, General Medicine, All India Institute of Medical Sciences, Bathinda, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saransh","family":"Gupta","sequence":"additional","affiliation":[{"name":"M.B.B.S. Student, All India Institute of Medical Sciences, Bathinda, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gitanjali","family":"Goyal","sequence":"additional","affiliation":[{"name":"Professor, Biochemistry, AIIMS Bathinda, Bathinda, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,11,4]]},"reference":[{"key":"2025120102401273000_18.11.e267068.1","doi-asserted-by":"crossref","DOI":"10.3390\/ijms231911268","article-title":"Resistance to Thyroid Hormones: A Case-Series Study","volume":"23","author":"Cannarella","year":"2022","journal-title":"Int J Mol Sci"},{"key":"2025120102401273000_18.11.e267068.2","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s40842-017-0046-z","article-title":"A clinician\u2019s guide to understanding resistance to thyroid hormone due to receptor mutations in the TR\u03b1 and TR\u03b2 isoforms","volume":"3","author":"Singh","year":"2017","journal-title":"Clin Diabetes Endocrinol"},{"key":"2025120102401273000_18.11.e267068.3","doi-asserted-by":"crossref","first-page":"635","DOI":"10.4103\/ijem.IJEM_555_19","article-title":"Indian Growth References from 0-18-Year-Old children and Adolescents - A Comparison of Two Methods","volume":"23","author":"Khadilkar","year":"2019","journal-title":"Indian J Endocrinol Metab"},{"key":"2025120102401273000_18.11.e267068.4","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000004415","article-title":"Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor \u03b2 gene: Report of one Chinese pedigree and review of the literature","volume":"95","author":"Guo","year":"2016","journal-title":"Medicine (Baltimore)"},{"key":"2025120102401273000_18.11.e267068.5","doi-asserted-by":"crossref","first-page":"9643","DOI":"10.3390\/ijms24119643","article-title":"Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Projection Neurons and Interneurons of Basal Ganglia and Motor Thalamus in the Adult Human and Macaque Brains","volume":"24","author":"Wang","year":"2023","journal-title":"Int J Mol Sci"},{"key":"2025120102401273000_18.11.e267068.6","doi-asserted-by":"crossref","first-page":"952","DOI":"10.3803\/EnM.2021.1198","article-title":"Deiodinases and the Three Types of Thyroid Hormone Deiodination Reactions","volume":"36","author":"Sabatino","year":"2021","journal-title":"Endocrinol Metab (Seoul)"},{"key":"2025120102401273000_18.11.e267068.7","doi-asserted-by":"crossref","DOI":"10.1530\/ETJ-24-0125","article-title":"2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action","volume":"13","author":"Persani","year":"2024","journal-title":"Eur Thyroid J"},{"key":"2025120102401273000_18.11.e267068.8","first-page":"209","article-title":"Thyroid hormone resistance and its management","volume":"29","author":"Rivas","year":"2016","journal-title":"Proc (Bayl Univ Med Cent)"},{"key":"2025120102401273000_18.11.e267068.9","unstructured":"Franco JS , Amaya-Amaya J , Anaya JM . Thyroid disease and autoimmune diseases. In: Anaya JM , Shoenfeld Y , Rojas-Villarraga A , eds. Autoimmunity: from bench to bedside. Bogota (Colombia): El Rosario University Press, 2013. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK459466\/"},{"key":"2025120102401273000_18.11.e267068.10","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2020.0071"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-267068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T10:40:19Z","timestamp":1764585619000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-267068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":10,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11,4]]},"published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1136\/bcr-2025-267068"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-267068","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]}}}