{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T12:29:15Z","timestamp":1791462555793,"version":"4.3.4"},"reference-count":4,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:p>\n                    Resistance to thyroid hormone alpha (RTH\u03b1) is caused by mutations in thyroid hormone receptor \u03b1 (\n                    <jats:italic toggle=\"yes\">THRA<\/jats:italic>\n                    ). Little is known about the natural history and treatment of RTH\u03b1, and diagnosis before the age of 1 year has not been previously reported. A\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    heterozygous\n                    <jats:italic toggle=\"yes\">THRA<\/jats:italic>\n                    mutation (pC380SfsX9) was identified in a 10-month-old female investigated for developmental delay, hypotonia, macrocephaly, and severe constipation. Treatment with levothyroxine was accompanied by an appropriate rise in thyroxine (T4), triiodothyronine (T3), as well as decrease in thyrotropin levels and in the T3\/T4 ratio with a trend toward normalization of peripheral markers of thyroid hormone action.\n                    <jats:italic toggle=\"yes\">THRA<\/jats:italic>\n                    pC380SfsX9 results in extreme RTH\u03b1.\n                  <\/jats:p>","DOI":"10.1089\/thy.2020.0695","type":"journal-article","created":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T02:39:58Z","timestamp":1605580798000},"page":"1003-1005","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor \u03b1 Gene (pC380SfsX9) Mutation"],"prefix":"10.1177","volume":"31","author":[{"given":"Ary E.","family":"Furman","sequence":"first","affiliation":[{"name":"Department of Medicine, Miller School of Medicine, University of Miami, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra M.","family":"Dumitrescu","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Refetoff","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Genetics, University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Pediatrics, University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy E.","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Medicine, Miller School of Medicine, University of Miami, Miami, Florida, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,6,8]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1043-2760(02)00043-7"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1210\/me.2010-0213"},{"key":"e_1_3_4_5_2","unstructured":"Refetoff S Dumitrescu AM Weiss RE. 2020. Impaired Sensitivity to Thyroid Hormone. Vol. UpToDate Waltham MA."}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2020.0695","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2020.0695","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2020.0695","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:07:57Z","timestamp":1777586877000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2020.0695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":4,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1089\/thy.2020.0695"],"URL":"https:\/\/doi.org\/10.1089\/thy.2020.0695","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6]]}}}