ArticleJournal of endocrinology and diabetes2018
Thyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature.
Article in Journal of endocrinology and diabetes, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 0 citations in OpenAlex.
- Resistance to Thyroid Hormone in Crohn's Disease: A Clinical Challenge of Refractory Thyroid Stimulating Hormone Elevation and Therapeutic Dilemmas.Clinical case reports · 2025Article
- Resistance to Thyroid Hormone in a Boy with a Severe, Complex, Congenital Heart Defect (CHD) Requiring Multiple Cardiac Surgeries-Whether and How to Prepare Child for the Surgery.Journal of clinical medicine · 2025Article
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1 author at 1 institution in 1 country.
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Abstract
aimTo report identical twin sisters harboring the A317T mutation in the thyroid hormone beta receptor gene (TR β) who developed atrial fibrillation and refractory congestive heart failure in the sixth decade of life. To critically assess whether the A317T mutation may be responsible for increased cardiotoxicity compared to other thyroid hormone beta receptor gene mutations.
methodsA 59-year-old woman referred for evaluation of abnormal thyroid function tests had been experiencing frequent spells of tachycardia associated with dyspnea, and dizziness necessitating multiple hospitalizations. Elevation in free thyroxine (T4), total triiodothyronine (T3) and inappropriately normal thyroid stimulating hormone (TSH) was consistent with a clinical diagnosis of thyroid hormone resistance. Magnetic resonance imaging of the brain was negative for a TSH-secreting pituitary adenoma. A blood sample was sent for thyroid hormone receptor gene mutational analysis, but it would require eight weeks to complete processing.
resultsA modified L-T3 suppression test was used to assess thyroid-pituitary axis feedback. After three weeks' of cytomel (L-T3) (25 micrograms daily) TSH decreased by 50%, and free T4 level decreased by 22% compared to baseline levels. Genetic testing revealed a heterozygous A317T mutation in the thyroid hormone beta receptor gene. Serial two-dimensional echocardiography demonstrated evolution to left atrial enlargement over a three-year period. Prior published literature suggests a less than 10% prevalence of atrial fibrillation in adults with thyroid hormone resistance harboring various TR-β gene mutations. Yet all five of five (100%) adults having the A317T mutation were reported to experience atrial fibrillation by age 50.
conclusionsA new kindred with resistance to thyroid hormone harboring the A317T disease-causative mutation is described in which identical twin sisters had a mid-life onset of atrial fibrillation and refractory congestive heart failure.
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