Abstract
Thyroid hormone resistance (RTH) is a rare disease that is characterised by a lowered sensitivity of the target organs to thyroid hormone. Herein, we present 3 cases of confirmed RTH, with the support of clinical lab results and/or gene sequencing at diagnosis. The 3 included patients were found to have elevated levels of free T3 (FT3), free T4 (FT4), and non-supressed levels of thyroid stimulating hormone (TSH). All patients were tested for thyroid antibodies, somatostatin suppression, vision and hearing at diagnosis. Electrocardiography (ECG), thyroid ultrasonography, and magnet resonance imaging (MRI) of the sellar region were also performed. Furthermore, gene sequencing was used to detect the thyroid hormone receptor beta (THRB) gene mutation. Patient treatment was individualised. Patients were given levothyroxine sodium or a low dose of thyroiodin, depending on the individual symptoms. After treatment, thyroid function was stable in 2 of the teenage patients. No evidence of worsening thyrotoxicosis was observed. Gene sequencing should be considered together with clinical lab results, including somatostatin suppression testing, before approaching a diagnosis of RTH.
References
Dec 1, 1991·The Journal of Clinical Investigation·R ParrillaB D Weintraub
Feb 1, 1967·The Journal of Clinical Endocrinology and Metabolism·S RefetoffL J DeGroot
May 1, 1982·Metabolism: Clinical and Experimental·R LindeD Rabin
Jan 1, 1994·Thyroid : Official Journal of the American Thyroid Association·S RefetoffY Hayashi
Jan 1, 1994·Thyroid : Official Journal of the American Thyroid Association·P Beck-Peccoz, V K Chatterjee
Jun 1, 1993·The Journal of Clinical Investigation·R E WeissS Refetoff
Nov 14, 2001·Reviews in Endocrine & Metabolic Disorders·S Y Cheng
Aug 30, 2003·Trends in Endocrinology and Metabolism : TEM·Paul M Yen
Oct 1, 2003·The Journal of Pediatrics·Stephen H LafranchiJerald C Nelson
Dec 9, 2003·American Journal of Human Genetics·Alexandra M DumitrescuSamuel Refetoff
Oct 19, 2004·Lancet·Edith C H FriesemaTheo J Visser
Oct 18, 2005·Nature Genetics·Alexandra M DumitrescuSamuel Refetoff
Dec 13, 2006·Best Practice & Research. Clinical Endocrinology & Metabolism·Paolo Beck-PeccozIrene Campi
Jun 19, 2007·Best Practice & Research. Clinical Endocrinology & Metabolism·Samuel Refetoff, Alexandra M Dumitrescu
Oct 23, 2008·Postgraduate Medical Journal·N K AgrawalS K Singh
Jan 7, 2010·Endocrine Reviews·Sheue-Yann ChengPaul J Davis
Jul 9, 2010·The Journal of Clinical Endocrinology and Metabolism·Roy E WeissSamuel Refetoff
Apr 13, 2012·The New England Journal of Medicine·Alies van MullemTheo J Visser
Feb 14, 2013·Thyroid : Official Journal of the American Thyroid Association·Anli TongXiaolan Lian
Jun 29, 2013·Thyroid : Official Journal of the American Thyroid Association·Cæcilie C LarsenRoy E Weiss
Aug 14, 2013·The Journal of Clinical Endocrinology and Metabolism·Carla MoranKrishna Chatterjee
Mar 5, 2014·Thyroid : Official Journal of the American Thyroid Association·Samuel RefetoffPaul M Yen
Jun 28, 2014·The Lancet. Diabetes & Endocrinology·Carla MoranKrishna K Chatterjee
Jul 22, 2014·Clinical Endocrinology·Enrico MacchiaEnio Martino
Jul 30, 2014·BMC Cancer·Mingqiang SongHong-Long Ji
Aug 15, 2015·The American Journal of the Medical Sciences·Shuiqing LaiJian Kuang
Aug 19, 2016·Medicine·Qing-Hua GuoYi-Ming Mu