1 Wagner RL, Apriletti JW, McGrath ME, West BL, Baxter JD, Fletterick RJ: A structural role for hormone in the thyroid hormone receptor. Nature 1995;378:690-697.

2 Refetoff S, DeWind LT, DeGroot LJ: Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967;27:279-294.

3 Beck-Peccoz P, Chatterjee VK: The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 1994;4:225-232.

4 Reutrakul S, Sadow PM, Pannain S, Pohlenz J, Carvalho GA, Macchia PE, Weiss RE, Refetoff S: Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J Clin Endocrinol Metab 2000;85:3609-3617.

5 LaFranchi SH, Snyder DB, Sesser DE, Skeels MR, Singh N, Brent GA, Nelson JC: Follow-up of newborns with elevated screening T4 concentrations. J Pediatr 2003;143:296-301.

6 Bantle JP, Seeling S, Mariash CN, Ulstrom RA, Oppenheimer JH: Resistance to thyroid hormones. A disorder frequently confused with Graves' disease. Arch Intern Med 1982;142: 1867-1871.

7 Persani L, Asteria C, Tonacchera M, Vitti P, Krishna V Chatterjee K, Beck-Peccoz P: Evidence for the secretion of thyrotropin with enhanced bioactivity in syndromes of thyroid hormone resistance. J Clin Endocrinol Metab 1994;78:1034-1039.

8 Brucker-Davis F, Skarulis MC, Grace MB, Benichou J, Hauser P, Wiggs E, Weintraub BD: Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study. Ann Intern Med 1995;123:572-583.

9 Weiss RE, Stein MA, Trommer B, Refetoff S: Attention-deficit hyperactivity disorder and thyroid function. J Pediatr 1993;123:539-545.

10 Valentine J, Rossi E, O'Leary P, Parry TS, Kurinczuk JJ, Sly P: Thyroid function in a population of children with attention deficit hyperactivity disorder. J Paediatr Child Health 1997;33:117-120.

11 Beck-Peccoz P, Persani L, Mantovani S, Cortelazzi D, Asteria C: Thyrotropin-secreting pituitary adenomas. Metabolism 1996;45(suppl 1):75-79.

12 Weiss RE, Refetoff S: Treatment of resistance to thyroid hormone - primum non nocere. J Clin Endocrinol Metab 1999;84:401-404.

13 Refetoff S, Weiss RE, Usala SJ: The syndromes of resistance to thyroid hormone. Endocr Rev 1993;14:348-399.

14 Hauffa BP, De Nayer P: Metabolic and cardiovascular responses to exogenous triiodothyronine favour nontreatment of a girl with familial receptor-positive thyroid hormone resistance. Acta Paediatr Scand 1990;79:191-195.

15 Kunitake JM, Hartman N, Henson LC, Lieberman J, Williams DE, Wong M, Hershman JM: 3,5,3'-Triiodothyroacetic acid therapy for thyroid hormone resistance. J Clin Endocrinol Metab 1989;69:461-466.

16 Ueda S, Takamatsu J, Fukata S, Tanaka K, Shimizu N, Sakata S, Yamaji T, Kuma K, Ohsawa N: Differences in response of thyrotropin to 3,5,3'-triiodothyronine and 3,5,3'-triiodothyroacetic acid in patients with resistance to thyroid hormone. Thyroid 1996;6:563-570.

17 Darendeliler F, Bas F: Successful therapy with 3,5,3'-triiodothyroacetic acid (TRIAC) in pituitary resistance to thyroid hormone. J Pediatr Endocrinol Metab 1997;10:535-538.

18 Radetti G, Persani L, Molinaro G, Mannavola D, Cortelazzi D, Chatterjee VK, Beck-Peccoz P: Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance. Thyroid 1997;7:775-778.

19 Schwartz ID, Bercu BB: Dextrothyroxine in the treatment of generalized thyroid hormone resistance in a boy homozygous for a defect in the T3 receptor. Thyroid 1992;2:15-19.

20 Pohlenz J, Knobl D: Treatment of pituitary resistance to thyroid hormone (PRTH) in an 8-year-old boy. Acta Paediatr 1996;85:387-390.

21 Weiss RE, Stein MA, Refetoff S: Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone. Thyroid 1997;7:389-393.

22 Torre P, Bertoli M, Di Giovanni S, Scommegna S, Conte C, Novelli G, Cianfarani S: Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy. J Endocrinol Invest 2005;28:657-662.

23 Asteria C, Rajanayagam O, Collingwood TN, Persani L, Romoli R, Mannavola D, Zamperini P, Buzi F, Ciralli F, Chatterjee VK, Beck-Peccoz P: Prenatal diagnosis of thyroid hormone resistance. J Clin Endocrinol Metab 1999;84:405-410.

24 Usala SJ, Bale AE, Gesundheit N, Weinberger C, Lash RW, Wondisford FE, McBride OW, Weintraub BD: Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene. Mol Endocrinol 1988;2:1217-1220.

25 Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Gurnell M, Rajanayagam O, Agostini M, Fletterick RJ, Beck-Peccoz P, Reinhardt W, Binder G, Ranke MB, Hermus A, Hesch RD, Lazarus J, Newrick P, Parfitt V Raggatt P, de Zegher F, Chatterjee VK: 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. EMBO J 1998;17:4760-4770.

26 Sakurai A, Miyamoto T, Refetoff S, DeGroot LJ: Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. Mol Endocrinol 1990;4:1988-1994.

27 Collingwood TN, Adams M, Tone Y, Chatterjee VK: Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone beta-receptors in thyroid hormone resistance syndrome. Mol Endocrinol 1994;8:1262-1277.

28 Nagaya T, Jameson JL: Thyroid hormone receptor dimerization is required for dominant negative inhibition by mutations that cause thyroid hormone resistance. J Biol Chem 1993;268:15766-15771.

29 Safer JD, Cohen RN, Hollenberg AN, Wondisford FE: Defective release of corepressor by hinge mutants of the thyroid hormone receptor found in patients with resistance to thyroid hormone. J Biol Chem 1998;273:30175-30182.

30 Clifton-Bligh RJ, de Zegher F, Wagner RL, Collingwood TN, Francois I, Van Helvoirt M, Fletterick RJ, Chatterjee VK: A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation. Mol Endocrinol 1998;12:609-621.

31 Forrest D, Hanebuth E, Smeyne RJ, Everds N, Stewart CL, Wehner JM, Curran T: Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor function. EMBO J 1996;15:3006-3015.

32 Zhu XG, Kaneshige M, Parlow AF, Chen E, Hunziker RD, McDonald MP, Cheng SY: Expression of the mutant thyroid hormone receptor PV in the pituitary of transgenic mice leads to weight reduction. Thyroid 1999;9:1137-1145.

33 Wong R, Vasilyev VV, Ting YT, Kutler DI, Willingham MC, Weintraub BD, Cheng S: Transgenic mice bearing a human mutant thyroid hormone beta 1 receptor manifest thyroid function anomalies, weight reduction, and hyperactivity. Mol Med 1997;3:303-314.

34 McDonald MP, Wong R, Goldstein G, Weintraub B, Cheng SY, Crawley JN: Hyperactivity and learning deficits in transgenic mice bearing a human mutant thyroid hormone beta1 receptor gene. Learning Memory 1998;5:289-301.

35 Abel ED, Kaulbach HC, Campos-Barros A, Ahima RS, Boers ME, Hashimoto K, Forrest D, Wondisford FE: Novel insight from transgenic mice into thyroid hormone resistance and the regulation of thyrotropin. J Clin Invest 1999;103:271-279.

36 Wu SY, Cohen RN, Simsek E, Senses DA, Yar NE, Grasberger H, Noel J, Refetoff S, Weiss RE: 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 2006;91:1887-1895.

37 Mixson AJ, Hauser P, Tennyson G, Renault JC, Bodenner DL, Weintraub BD: Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. J Clin Invest 1993;91:2296-2300.

38 Hayashi Y, Weiss RE, Sarne DH, Yen PM, Sunthornthepvarakul T, Marcocci C, Chin WW, Refetoff S: Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? J Clin Endocrinol Metab 1995;80:3246-3256.

39 Ercan-Fang S, Schwartz HL, Mariash CN, Oppenheimer JH: Quantitative assessment of pituitary resistance to thyroid hormone from plots of the logarithm of thyrotropin versus serum free thyrox-ine index. J Clin Endocrinol Metab 2000;85:2299-2303.

40 Zandieh Doulabi B, Platvoet-ter Schiphorst M, van Beeren HC, Labruyere WT, Lamers WH, Fliers E, Bakker O, Wiersinga WM: TR(beta)1 protein is preferentially expressed in the pericentral zone of rat liver and exhibits marked diurnal variation. Endocrinology 2002;143:979-984.

41 Stoykov I, Zandieh-Doulabi B, Moorman AF, Christoffels V, Wiersinga WM, Bakker O: Expression pattern and ontogenesis of thyroid hormone receptor isoforms in the mouse heart. J Endocrinol 2006;189:231-245.

42 Pohlenz J, Weiss RE, Macchia PE, Pannain S, Lau IT, Ho H, Refetoff S: Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab 1999;84:3919-3928.

43 Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S: Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab 1993;76:257-259.

44 Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunca H, Seo H, Refetoff S: 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 1996;81:4196-4203.

45 Brown NS, Smart A, Sharma V, Brinkmeier ML, Greenlee L, Camper SA, Jensen DR, Eckel RH, Krezel W, Chambon P, Haugen BR: Thyroid hormone resistance and increased metabolic rate in the RXR-gamma-deficient mouse. J Clin Invest 2000;106:73-79.

46 Weiss RE, Xu J, Ning G, Pohlenz J, O'Malley BW, Refetoff S: Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone. EMBO J 1999;18:1900-1904.

47 Weiss RE, Refetoff S: Resistance to thyroid hormone. Rev Endocr Metab Dis 2000;1:97-108.

O. Bakker, PhD

Division of Endocrinology and Metabolism, Academic Medical Center Meibergdreef 9

NL-1105 AZ Amsterdam (The Netherlands)

Tel. +31 205666071, Fax +31 206917682, E-Mail [email protected]

Krassas GE, Rivkees SA, Kiess W (eds): Diseases of the Thyroid in Childhood and Adolescence. Pediatr Adolesc Med. Basel, Karger, 2007, vol 11, pp 154-168

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