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J Clin Endocrinol Metab 27: 279\u2013294.","DOI":"10.1210\/jcem-27-2-279"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, et al. (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc Natl Acad Sci U S A 86: 8977\u20138981.","DOI":"10.1073\/pnas.86.22.8977"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3 Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, et al. (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. J Clin Endocrinol Metab 81: 4196\u20134203.","DOI":"10.1210\/jcem.81.12.8954015"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, et al. (2012) A mutation in the thyroid hormone receptor alpha gene. N Engl J Med 366: 243\u2013249.","DOI":"10.1056\/NEJMoa1110296"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Lazar MA (1993) Thyroid hormone receptors: multiple forms, multiple possibilities. Endocr Rev 14: 184\u2013193.","DOI":"10.1210\/er.14.2.184"},{"key":"6","unstructured":"6 Japan Thyroid Association (2016) Diagnosis of the Resistance to Thyroid Hormone beta (RTH\u03b2). http:\/\/www.japanthyroid.jp\/doctor\/img\/hormone03.pdf accessed on February 18, 2021."},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Hoshikawa S, Mori K, Kaise N, Nakagawa Y, Ito S, et al. (2004) Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia. Thyroid 14: 155\u2013160.","DOI":"10.1089\/105072504322880409"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Dumitrescu AM, Refetoff S (2013) The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta 1830: 3987\u20134003.","DOI":"10.1016\/j.bbagen.2012.08.005"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9 Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Gurnell M, et al. (1998) A role for helix 3 of the TR beta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. EMBO J 17: 4760\u20134770.","DOI":"10.1093\/emboj\/17.16.4760"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10 Ueda Y, Tagami T, Tamanaha T, Kakita M, Tanase-Nakao K, et al. (2015) A family of RTH\u03b2 with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH. Endocr J 62: 251\u2013260.","DOI":"10.1507\/endocrj.EJ14-0422"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11 Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, et al. (2012) Homozygous thyroid hormone recep- tor \u03b2-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J Clin Endocrinol Metab 97: 1328\u20131336.","DOI":"10.1210\/jc.2011-2642"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12 Beck-Peccoz P, Lania A, Beckers A, Chatterjee K, Wemeau JL (2013) 2013 European thyroid association guidelines for the diagnosis and treatment of thyrotropin-secreting pituitary tumors. Eur Thyroid J 2: 76\u201382.","DOI":"10.1159\/000351007"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13 Campi I, Covelli D, Moran C, Fugazzola L, Cacciatore C, et al. (2020) The differential diagnosis of discrepant thyroid function tests: insistent pitfalls and updated flow-chart based on a long-standing experience. Front Endocrinol (Lausanne) 11: 432.","DOI":"10.3389\/fendo.2020.00432"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Refetoff S, Dumitrescu AM (2007) Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab 21: 277\u2013305.","DOI":"10.1016\/j.beem.2007.03.005"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Wada N, Chiba H, Shimizu C, Kijima H, Kubo M, et al. (1997) A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. J Clin Endocrinol Metab 82: 3246\u20133250.","DOI":"10.1210\/jcem.82.10.4276"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Ito M, Toyoda N, Nomura E, Takamura Y, Amino N, et al. (2011) Type 1 and type 2 iodothyronine deiodinases in the thyroid gland of patients with 3,5,3&apos;-triiodothyronine-predominant Graves\u2019 disease. Eur J Endocrinol 164: 95\u2013100.","DOI":"10.1530\/EJE-10-0736"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17 Maia AL, Kim BW, Huang SA, Harney JW, Larsen PR (2005) Type 2 iodothyronine deiodinase is the major source of plasma T3 in euthyroid humans. J Clin Invest 115: 2524\u20132533.","DOI":"10.1172\/JCI25083"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18 Toyoda N, Zavacki AM, Maia AL, Harney JW, Larsen PR. (1995) A novel retinoid X receptor-independent thyroid hormone response element is present in the human type 1 deiodinase gene. Mol Cell Biol 15: 5100\u20135112.","DOI":"10.1128\/MCB.15.9.5100"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Christoffolete MA, Ribeiro R, Singru P, Fekete C, da Silva WS, et al. (2006) Atypical expression of type 2 iodothyronine deiodinase in thyrotrophs explains the thyroxine-mediated pituitary thyrotropin feedback mechanism. Endocrinology 147: 1735\u20131743.","DOI":"10.1210\/en.2005-1300"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20 Gereben B, Goncalves C, Harney JW, Larsen PR, Bianco AC. (2000) Selective proteolysis of human type 2 deiodinase: a novel ubiquitin-proteasomal mediated mechanism for regulation of hormone activation. Mol Endocrinol 14: 1697\u20131708.","DOI":"10.1210\/mend.14.11.0558"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Gurnell M, et al. (1998) A role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. 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Mol Endocrinol 8: 1262\u20131277.","DOI":"10.1210\/me.8.9.1262"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24 Behr M, Ramsden DB, Loos U (1997) Deoxyribonucleic acid binding and transcriptional silencing by a truncated c-erbA beta 1 thyroid hormone receptor identified in a severely retarded patient with resistance to thyroid hormone. J Clin Endocrinol Metab 82: 1081\u20131087.","DOI":"10.1210\/jc.82.4.1081"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25 Canadas KT, Rivkees SA, Udelsman R, Breuer CK (2011) Resistance to thyroid hormone associated with a novel mutation of the thyroid \u03b2 receptor gene in a four-year-old female. Int J Pediatr Endocrinol 2011: 3.","DOI":"10.1186\/1687-9856-2011-3"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26 Groenhout EG, Dorin RI (1994) Generalized thyroid hormone resistance due to a deletion of the carboxy terminus of the c-erbA beta receptor. Mol Cell Endocrinol 99: 81\u201388.","DOI":"10.1016\/0303-7207(94)90149-X"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Taniyama M, Kusano S, Miyoshi Y, Nakamura H, Kaihara M, et al. (1996) Mild resistance to thyroid hormone with a truncated thyroid hormone receptor beta. Exp Clin Endocrinol Diabetes 104: 339\u2013343.","DOI":"10.1055\/s-0029-1211464"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28 Gurgel MH, Montenegro Junior RM, Magalhaes RA, Lima GEDCP, Montenegro RM, et al. (2008) E449X mutation in the thyroid hormone receptor beta associated with autoimmune thyroid disease and severe neuropsychomotor involvement. Arq Bras Endocrinol Metabol 52: 1205\u20131210.","DOI":"10.1590\/S0004-27302008000800002"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 Miyoshi Y, Nakamura H, Sasaki S, Tagami T, Misaki T, et al. (1995) Two consecutive nucleotide substitutions resulting in the T3 receptor beta gene resulting in an 11-amino acid truncation in a patient with generalized resistance to thyroid hormone. Mol Cell Endocrinol 114: 9\u201317.","DOI":"10.1016\/0303-7207(95)03636-L"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30 Rivolta CM, Mallea Gil MS, Ballarino C, Ridruejo MC, Miguel CM, et al. (2004) A novel 1297\u20131304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone. Mol Diagn 8: 163\u2013169.","DOI":"10.2165\/00066982-200408030-00004"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31 Wu SY, Cohen RN, Simsek E, Senses DA, Yar NE, et al. (2006) A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone. J Clin Endocrinol Metab 91: 1887\u20131895.","DOI":"10.1210\/jc.2005-2428"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32 Phillips SA, Rotman-Pikielny P, Lazar J, Ando S, Hauser P, et al. (2001) Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant. J Clin Endocrinol Metab 86: 5142\u20135147.","DOI":"10.1210\/jcem.86.11.8051"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33 Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD (1991) Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two \u201chot spot\u201d regions of the ligand binding domain. J Clin Invest 88: 2123\u20132130.","DOI":"10.1172\/JCI115542"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34 Maruo Y, Mori A, Morioka Y, Sawai C, Mimura Y, et al. (2016) Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report. BMC Endocr Disord 16: 1.","DOI":"10.1186\/s12902-015-0081-7"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35 Takeda K, Weiss RE, Refetoff S (1992) Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab 74: 712\u2013719.","DOI":"10.1210\/jcem.74.4.1548332"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36 Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, et al. (1994) Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest 94: 506\u2013515.","DOI":"10.1172\/JCI117362"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37 Kim JH, Park TS, Baek HS, Kim GH, Yoo HW, et al. (2007) A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance. J Korean Med Sci 22: 560\u2013563.","DOI":"10.3346\/jkms.2007.22.3.560"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38 Magalh\u00e3es PK, Rodrigues Dare GL, Rodrigues Dos Santos S, Nogueira CR, de Castro M, et al. (2007) Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone. Clin Endocrinol (Oxf) 67: 748\u2013753.","DOI":"10.1111\/j.1365-2265.2007.02956.x"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39 Cardoso LF, de Paula FJ, Maciel LM (2014) Resistance to thyroid hormone due to mutations in the THRB gene impairs bone mass and affects calcium and phosphorus homeostasis. 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(2017) Homozygous resistance to thyroid hormone \u03b2: can combined antithyroid drug and triiodothyroacetic acid treatment prevent cardiac failure? J Endocr Soc 1: 1203\u20131212.","DOI":"10.1210\/js.2017-00204"},{"key":"43","doi-asserted-by":"crossref","unstructured":"43 Frank-Raue K, Lorenz A, Haag C, H\u00f6ppner W, Boll HU, et al. (2004) Severe form of thyroid hormone resistance in a patient with homozygous\/hemizygous mutation of T3 receptor gene. Eur J Endocrinol 150: 819\u2013823.","DOI":"10.1530\/eje.0.1500819"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44 Slezak R, Lukienczuk T, Noczynska A, Karpinski P, Lebioda A, et al. (2012) A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait. Horm Metab Res 44: 704\u2013707.","DOI":"10.1055\/s-0032-1312666"},{"key":"45","doi-asserted-by":"crossref","unstructured":"45 Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, et al. (2012) Homozygous thyroid hormone receptor \u03b2-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J Clin Endocrinol Metab 97: 1328\u20131336.","DOI":"10.1210\/jc.2011-2642"},{"key":"46","doi-asserted-by":"crossref","unstructured":"46 van Gucht AL, Meima ME, Zwaveling-Soonawala N, Visser WE, Fliers E, et al. (2016) Resistance to thyroid hormone alpha in an 18-month-old girl: clinical, therapeutic, and molecular characteristics. Thyroid 26: 338\u2013346.","DOI":"10.1089\/thy.2015.0463"},{"key":"47","doi-asserted-by":"crossref","unstructured":"47 van der Spek AH, Surovtseva OV, Aan S, Tool ATJ, van de Geer A, et al. (2017) Increased circulating interleukin-8 in patients with resistance to thyroid hormone receptor alpha. Endocr Connect 6: 731\u2013740.","DOI":"10.1530\/EC-17-0213"},{"key":"48","doi-asserted-by":"crossref","unstructured":"48 Wejaphikul K, Groeneweg S, Hilhorst-Hofstee Y, Chatterjee VK, Peeters RP, et al. (2019) Insight into molecular determinants of T3 <i>vs.<\/i> T4 recognition from mutations in thyroid hormone receptor \u03b1 and \u03b2. J Clin Endocrinol Metab 104: 3491\u20133500.","DOI":"10.1210\/jc.2018-02794"},{"key":"49","doi-asserted-by":"crossref","unstructured":"49 Demir K, van Gucht AL, B\u00fcy\u00fckinan M, \u00c7atl\u0131 G, Ayhan Y, et al. (2016) Diverse genotypes and phenotypes of three novel thyroid hormone receptor-\u03b1 mutations. J Clin Endocrinol Metab 101: 2945\u20132954.","DOI":"10.1210\/jc.2016-1404"},{"key":"50","doi-asserted-by":"crossref","unstructured":"50 Moran C, Agostini M, Visser WE, Schoenmakers E, Schoenmakers N, et al. (2014) Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)\u03b11 and TR\u03b12: clinical, biochemical, and genetic analyses of three related patients. 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Autism Res 10: 1919\u20131928.","DOI":"10.1002\/aur.1838"},{"key":"54","doi-asserted-by":"crossref","unstructured":"54 Espiard S, Savagner F, Flamant F, Vlaeminck-Guillem V, Guyot R, et al. (2015) A novel mutation in THRA gene associated with an atypical phenotype of resistance to thyroid hormone. J Clin Endocrinol Metab 100: 2841\u20132848.","DOI":"10.1210\/jc.2015-1120"},{"key":"55","doi-asserted-by":"crossref","unstructured":"55 Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, et al. (2015) Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med 21: 185\u2013191.","DOI":"10.1038\/nm.3792"},{"key":"56","doi-asserted-by":"crossref","unstructured":"56 Tylki-Szyma\u0144ska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, et al. (2015) Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor \u03b1 gene (THRA). 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J Endocr Soc 3: 665\u2013669.","DOI":"10.1210\/js.2019-00011"},{"key":"60","doi-asserted-by":"crossref","unstructured":"60 Fujisawa H, Gagn\u00e9 J, Dumitrescu AM, Refetoff S (2019) Very severe resistance to thyroid hormone \u03b2 in one of three affected members of a family with a novel mutation in the <i>THRB<\/i> gene. Thyroid 29: 1518\u20131520.","DOI":"10.1089\/thy.2019.0095"},{"key":"61","doi-asserted-by":"crossref","unstructured":"61 Okuma H, Hashimoto K, Ohashi T, Mihara M, Minami I, et al. (2018) A case of TSH-secreting pituitary adenoma with cyclic fluctuations in serum TSH levels. 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