{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:25:12Z","timestamp":1791563112806,"version":"4.3.4"},"reference-count":10,"publisher":"Scientific Scholar","content-domain":{"domain":["nmji.in"],"crossmark-restriction":true},"short-container-title":["NMJI"],"abstract":"<jats:p>Resistance to thyroid hormone (RTH) is rare and is characterized by high circulating levels of thyroid hormones in the presence of either normal or elevated thyroid stimulating hormone (TSH) levels. Decreased responsiveness of the peripheral tissues to thyroid hormones owing to defective thyroid receptor function is the underlying cause. RTH is variable in its presentation. We report a 21-year-old man with long-standing attention deficit hyperactivity disorder (ADHD) and learning disabilities. His thyroid function tests showed an increased free T3 and T4 in the presence of a non-suppressed TSH. Other pituitary hormones were normal. Subsequently, a genetic analysis revealed a heterozygous mutation (Pro452Thr) in THR\u03b2 gene, establishing the diagnosis of RTH. Thus, this was a RTH presenting as ADHD due to a novel mutation in the thyroid hormone receptor gene.<\/jats:p>","DOI":"10.25259\/nmji_869_2022","type":"journal-article","created":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T10:42:04Z","timestamp":1744886524000},"page":"332-334","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Thyroid hormone resistance due to a novel mutation in thyroid hormone receptor presenting as attention deficit hyperactivity disorder"],"prefix":"10.25259","volume":"37","author":[{"given":"RINI","family":"YADAV","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MONIKA","family":"GOYAL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ANSHITA","family":"AGGARWAL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BINDU","family":"KULSHRESHTHA","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","published-online":{"date-parts":[[2025,4,16]]},"reference":[{"key":"10.25259\/NMJI_869_2022\/ref-1","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1210\/er.14.3.348","article-title":"The syndromes of resistance to thyroid hormone","volume":"14","author":"Refetoff","year":"1993","journal-title":"Endocr Rev"},{"key":"10.25259\/NMJI_869_2022\/ref-2","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/s40842-017-0046-z","article-title":"A clinician \u00af(\u2019\u00afs guide to understanding resistance to thyroid hormone due to receptor mutations in the TR\u00e1 and TR\u00e2 isoforms","volume":"3","author":"Singh","year":"2017","journal-title":"Clin Diabetes Endocrinol"},{"key":"10.25259\/NMJI_869_2022\/ref-3","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1067\/S0022-3476(03)00184-7","article-title":"Follow-up of newborns with elevated screening T4 concentrations","volume":"143","author":"LaFranchi","year":"2003","journal-title":"J Pediatr"},{"key":"10.25259\/NMJI_869_2022\/ref-4","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1056\/NEJM199304083281403","article-title":"Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone","volume":"328","author":"Hauser","year":"1993","journal-title":"N Engl J Med"},{"key":"10.25259\/NMJI_869_2022\/ref-5","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1080\/00207454.2020.1803304","article-title":"Pituitary hyperplasia mimicking thyrotropin-producing pituitary adenoma in the patient with resistance to thyroid hormone: A case report","volume":"132","author":"Suntornlohanakul","year":"2022","journal-title":"Int J Neurosci"},{"key":"10.25259\/NMJI_869_2022\/ref-6","doi-asserted-by":"publisher","first-page":"1804","DOI":"10.1089\/thy.2016.0450","article-title":"A novel thyroid hormone receptor beta gene mutation (G251V) in a Thai patient with resistance to thyroid hormone coexisting with pituitary incidentaloma","volume":"26","author":"Sriphrapradang","year":"2016","journal-title":"Thyroid\/"},{"key":"10.25259\/NMJI_869_2022\/ref-7","doi-asserted-by":"publisher","first-page":"e229430","DOI":"10.1136\/bcr-2019-229430","article-title":"Challenging diagnosis of resistance to thyroid hormone in a patient with pituitary adenoma","volume":"12","author":"Cunha","year":"2019","journal-title":"BMJ Case Reports"},{"key":"10.25259\/NMJI_869_2022\/ref-8","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1172\/JCI117362","article-title":"Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone identification of thirteen novel mutations in the thyroid hormone receptor beta gene","volume":"94","author":"Adams","year":"1994","journal-title":"J Clin Invest"},{"key":"10.25259\/NMJI_869_2022\/ref-9","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1007\/978-1-4939-7902-8_18","article-title":"Human genetics of thyroid hormone receptor beta: Resistance to thyroid hormone beta (RTH\u00e2)","volume":"1801","author":"Pappa","year":"2018","journal-title":"Methods Mol Biol"},{"key":"10.25259\/NMJI_869_2022\/ref-10","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1007\/s40291-019-00399-w","article-title":"Mutational landscape of resistance to thyroid hormone beta (RTH\u00e2)","volume":"23","author":"Concolino","year":"2019","journal-title":"Mol Diagn Ther"}],"container-title":["The National Medical Journal of India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/nmji.in\/thyroid-hormone-resistance-due-to-a-novel-mutation-in-thyroid-hormone-receptor-presenting-as-attention-deficit-hyperactivity-disorder\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/nmji.in\/thyroid-hormone-resistance-due-to-a-novel-mutation-in-thyroid-hormone-receptor-presenting-as-attention-deficit-hyperactivity-disorder\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T10:42:05Z","timestamp":1744886525000},"score":1,"resource":{"primary":{"URL":"https:\/\/nmji.in\/thyroid-hormone-resistance-due-to-a-novel-mutation-in-thyroid-hormone-receptor-presenting-as-attention-deficit-hyperactivity-disorder\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,16]]},"references-count":10,"alternative-id":["10.25259\/NMJI_869_2022"],"URL":"https:\/\/doi.org\/10.25259\/nmji_869_2022","relation":{},"ISSN":["2583-150X","0970-258X"],"issn-type":[{"value":"2583-150X","type":"electronic"},{"value":"0970-258X","type":"print"}],"subject":[],"published":{"date-parts":[[2025,4,16]]},"article-number":"332"}}