{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T06:24:20Z","timestamp":1777875860121,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"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":[[2022,3]]},"abstract":"<jats:p>\n                    We report a patient with congenital hypothyroidism due to athyreosis complicated by a heterozygous thyroid hormone receptor beta (\n                    <jats:italic toggle=\"yes\">THR\u03b2)<\/jats:italic>\n                    gene mutation (R320L), resulting in a severe resistance to thyroid hormone beta phenotype. The proband inherited the mutant allele from his father, presenting a very mild phenotype. While the precise reason for this discrepancy remains unknown, we postulate the possibility of\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    mutation and mosaicism in the father. Correlating thyrotropin (TSH) with free thyroxine (fT4) allowed us to predict the amount of fT4 required to normalize the proband's TSH, which supported the treatment with high dose of levothyroxine.\n                  <\/jats:p>","DOI":"10.1089\/thy.2021.0523","type":"journal-article","created":{"date-parts":[[2021,12,31]],"date-time":"2021-12-31T00:18:17Z","timestamp":1640909897000},"page":"336-339","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis"],"prefix":"10.1177","volume":"32","author":[{"given":"Federico","family":"Salas-Lucia","sequence":"first","affiliation":[{"name":"Department of Medicine, The University of Chicago, Chicago, Illinois, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica M.","family":"Fran\u00e7a","sequence":"additional","affiliation":[{"name":"Department of Medicine, The University of Chicago, Chicago, Illinois, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James A.","family":"Amrhein","sequence":"additional","affiliation":[{"name":"USC School of Medicine Greenville Campus Pediatric Endocrinology and Diabetes, Prisma Health\u2013Upstate, Greenville, South Carolina, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Elizabeth","family":"Weir","sequence":"additional","affiliation":[{"name":"USC School of Medicine Greenville Campus Pediatric Endocrinology and Diabetes, Prisma Health\u2013Upstate, Greenville, South Carolina, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2743-770X","authenticated-orcid":false,"given":"Alexandra M.","family":"Dumitrescu","sequence":"additional","affiliation":[{"name":"Department of Medicine, The University of Chicago, Chicago, Illinois, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0164-8231","authenticated-orcid":false,"given":"Samuel","family":"Refetoff","sequence":"additional","affiliation":[{"name":"Department of Medicine, The University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Pediatrics, The University of Chicago, Chicago, Illinois, USA."},{"name":"Committee on Genetics, The University of Chicago, Chicago, Illinois, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,3,17]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.656551"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117362"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0727"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-9-144"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2013.11.015"},{"key":"e_1_3_5_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000183794"},{"key":"e_1_3_5_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0197"},{"key":"e_1_3_5_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.8.6718"},{"key":"e_1_3_5_10_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1759"}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2021.0523","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2021.0523","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2021.0523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:08:48Z","timestamp":1777586928000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2021.0523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1089\/thy.2021.0523"],"URL":"https:\/\/doi.org\/10.1089\/thy.2021.0523","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3]]}}}