ArticleJournal of endocrinological investigation2005
Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family.
Article in Journal of endocrinological investigation, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 27 citations in OpenAlex.
- Resistance to Thyroid Hormone Beta and Coexisting Thyroid Disease: Diagnostic and Therapeutic Challenges Illustrated by Two Cases.Case reports in endocrinology · 2025Article
- Graves' disease coexisted with resistance to thyroid hormone: a case report.Journal of medical case reports · 2021Article
- Coexistence of Autoimmune Hyper- and Hypothyroidism in a Kindred with Reduced Sensitivity to Thyroid Hormone.European thyroid journal · 2020Article
- Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones.Thyroid research · 2019Article
- BRAFOncology letters · 2017Article
- Autoimmune Abnormalities of Postpartum Thyroid Diseases.Frontiers in endocrinology · 2017Review
- Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review.Case reports in endocrinology · 2016Article
- Thyrotropinoma and multinodular goiter: A diagnostic challenge for hyperthyroidism.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2013Article
- Coexistence of THRB and TBG gene mutations in a Turkish family.The Journal of clinical endocrinology and metabolism · 2013Article
- Autoimmunity in patients with resistance to thyroid hormone.The Journal of clinical endocrinology and metabolism · 2010Article
- Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association · 2009Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
The syndrome of resistance to thyroid hormone (RTH) is characterized by impaired tissue responses to thyroid hormone. Hashimoto's thyroiditis is the most common thyroid autoimmune disease. We present a Turkish family with both RTH and Hashimoto's thyroiditis. RTH was detected through the presence of point mutation in thyroid hormone receptor (TR), and Hashimoto's thyroiditis was diagnosed due to the presence of thyroid autoantibodies. The proposita, her affected mother as well as her unaffected sister have thyroid autoantibodies consistent with Hashimoto's thyroiditis, and a heterozygous point mutation in exon 10 encoding the ligand (3,3',5-L-T3)-binding domain of the TRbeta gene was detected in both the proposita and the mother. The mutation is a replacement of cytosine for guanine in codon 453 (CCT->GCT) producing a missense mutation substituting a normal proline with an alanine (P453A), which reduces the affinity for T3 to 17% of that of the normal TRbeta. Both also have modest elevation of serum TSH levels. In severe RTH, marked elevation of thyroid hormone concentrations in the absence of suppressed TSH supports the laboratory diagnosis of RTH. However, when RTH is mild and associated with thyroiditis, even a modest thyroid gland insufficiency can obliterate the serum T4 and T3 elevations, typical of RTH. This will manifest as elevated serum TSH. Demonstration of TRbeta gene mutation is then necessary to establish the diagnosis. In addition, under these circumstances, treatment with thyroid hormone should be considered.
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