{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:17:58Z","timestamp":1777727878112,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:p>Thyroid hormone resistance syndrome (THRS) is a rare disease characterized by reduced sensitivity to thyroid hormones. Mutations in the thyroid hormone receptor beta ( THRB) gene are considered as contributing to the pathogenesis. This report describes a Chinese pedigree with THRS and Hashimoto\u2019s thyroiditis (HT) due to novel point mutation in the 11th exon of the THRB gene (c. 1378 G\u2009&gt;\u2009A). The proband complained of goitre with increased thyroid hormone and normal thyroid stimulating hormone levels. Gene sequencing was performed to confirm the diagnosis. HT was also diagnosed based on positive thyroid autoantibodies and diffuse, grid-like changes in the thyroid on ultrasound examination. Additionally, a comprehensive examination of the proband\u2019s pedigree was conducted. The patient\u2019s father exhibited the same gene mutation site and was diagnosed with THRS and HT. No mutation site was detected in three patients with HT only and three healthy volunteers. Thus, gene sequencing should be considered the gold standard for diagnosing THRS. Furthermore, treatment should be individualized to control the patient\u2019s symptoms rather than normalizing thyroid hormone levels. Further studies that determine the relationship between THRS and TH are warranted.<\/jats:p>","DOI":"10.1177\/03000605221109398","type":"journal-article","created":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:48:01Z","timestamp":1658191681000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto\u2019s Thyroiditis: A pedigree report"],"prefix":"10.1177","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7372-2501","authenticated-orcid":false,"given":"Zongyan","family":"Xie","sequence":"first","affiliation":[{"name":"Department of Clinical Pharmacology, Beijing Luhe Hospital Affiliated to Capital Medical University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ChenFei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Beijing Luhe Hospital Affiliated to Capital Medical University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaxin","family":"An","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Beijing Luhe Hospital Affiliated to Capital Medical University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9847-5439","authenticated-orcid":false,"given":"Dong","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Beijing Luhe Hospital Affiliated to Capital Medical University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuhong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacology, Beijing Luhe Hospital Affiliated to Capital Medical University, Beijing, 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