Resistencia a las hormonas tiroideas

Medicina Clinica

Volumn 113, Issue 20, 1999, Pages 783-788

  Carretero, José Ignacio Botella ^a   Barbancho, María Dolores Lledín ^b   Escobar Morreale, Héctor Francisco ^a  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b HOSPITAL INFANTIL LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

THYROID HORMONE;

HORMONAL REGULATION; HORMONE RESISTANCE; HORMONE RESPONSE; HUMAN; PROTEIN TRANSPORT; REVIEW; THYROID HORMONE BLOOD LEVEL;

DIAGNOSIS, DIFFERENTIAL; DRUG RESISTANCE; HUMANS; RECEPTORS, THYROID HORMONE; THYROID HORMONE RESISTANCE SYNDROME; THYROID HORMONES;

EID: 0033547555     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (69)

1. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deafmutism, stripped epiphyses, goiter, and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967; 27: 279-294.
2. Refetoff S, DeGroot LJ, Benard B, DeWind LT. Studies of a sibship with apparent hereditary resistance to the intracelluar action of thyroid hormone. Metabolism 1972; 21: 723-756.
3. Weiss RE, Weinberg M, Refetoff S. Identical mutations unrelated families with generalized resistance to thyroid hormone, occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene: analysis of fifteen families. J Clin Invest 1993; 91: 2.408-2.415.
4. Beck-Peccoz P, Chatterjee VK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 1994; 4: 225-232.
5. Weiss RE, Balzano S, Scherberg NK, Refetoff S. Neonatal detection of generalized resistance to thyroid hormone. JAMA 1990; 264: 2.245-2.250.
6. Rettig KR, Sargeant DT, Kemp SF. Resistance to the effects of thyroid hormone in children. South Med J 1987; 80: 1.316-1.318.
7. Asteria C, Rajanayagam O, Collingwood TN, Persani L, Romoli R, Mannavola D et al. Prenatal diagnosis of thyroid hormone resistance. J Clin Endocrinol Metab 1999; 84: 405-410.
8. Refetoff S, Weiss R, Usala S. The syndromes of resistance to thyroid hormone. Endocr Rev 1993; 14: 348-399.
9. Sap J, Muñoz A, Damm K, Goldberg Y, Ghysdael J, Lentz A et al. The c-erb-A protein is a high-affinity receptor for thyrod hormone. Nature (Lond) 1986; 324: 635-640.
10. Weinberger C, Thompson CC, Ong ES, Lebo R, Gruol DJ, Evans RM. The c-erb-A gene encodes a thyroid hormone receptor. Nature (Lond) 1986; 324: 641-646.
11. Solomon E, Barker DF. Report of the committee on the genetic constitution of chromosome 17 (HGMIO). Cytogenet Cell Genet 1989; 51: 319-337.
12. Naylor SL, Bishop DT. Report of the comminutes on the genetic constitution of chromosome 3 (HGHIO). Cytogenet Cell Genet 1989; 51: 106-120.
13. Sakurai A, Naka A, DeGroot LJ. Structural analysis of human thyroid hormone receptor beta gene. Mol Cell Endocrinol 1990; 71: 83-91.
14. Laudet V, Begue A, Henry-Dathoit C, Joubel A, Martin P, Stehelin D et al. Genomic organization of the human thyroid hormone receptor a (c-erbA-1) gene. Nucleic Acid Res 1991; 19: 1.105-1.112.
15. Hodin RA, Lazar MA, Wintman BI, Darling DS, Koenig RJ, Larsen PR et al. Identification of a thyroid hormone receptor that is pituitary-specific. Science 1989; 244: 76-79.
16. Yen PM, Sunday ME, Darling DS, Chin WW. Isoform specific thyroid hormone receptor antibodies detect multiple thyroid hormone receptors in rat and human pituitaries. Endocrinology 1992; 130: 1.539-1.546.
17. Nakai A, Seino S, Sakurai A, Szilak L, Bell GI, DeGroot LJ. Characterization of a thyroid hormone receptor expressed in human kidney and other tissues. Proc Natl Acad Sci USA 1988; 85: 2.781-2.785.
18. Miyajima N, Horiuchi R Shibuya Y, Fukushige S, Matsubara K, Toyoshima K et al Two erb-A homologs encoding proteins with different T3 binding capacities are transcribed from opposite DNA strands of the same genetic locus. Cell 1989; 57: 31-39.
19. Brent GA, Larsen PR, Harney JW, Koenig RJ, Moore DD. Functional characterization of the rat growth hormone promoter elements required for induction by thyroid hormone with and without a co-transfectant beta type thyroid hormone receptor. J Biol Chem 1989; 264: 178-182.
20. Carr FE, Burnside J, Chin WW. Thyroid hormones regulate rat thyrotropin beta gene promoter activity expressed in GH3 cells. Mol Endocrinol 1989; 3: 709-716
21. Bale AE, Usala S, Weinberger C, Weintraub BD, McBride OW. A c-DNA probe from the c-erb-A gene on chromosome 3 detects a high frequency RFLP. Nucleic Acid Res 1989; 16: 7.756-7.762.
22. Takeda K, Weiss RE, Refetoff S. Rapid localization of mutations in the thyroid hormone receptor 6 gene by denaturing gradient gel electrophoresis in eighteen families with thyroid hormone resistance. J Clin Endocrinol Metab 1992; 74: 712-719.
23. Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE et al. A base mutation of the c-erb-a thyroid hormone receptor in a kindred with generalized thyrod hormone resistance. Molecular heterogeneity in two other kindreds. J Clin Invest 1990; 85: 93-100.
24. Bell G, Refeloff S. Thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor. Proc Natl Acad Sci USA 1996 86: 8.977-8.981.
25. Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Birard J et al. A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor. Mol Endocrinol 1991; 5: 327-335.
26. Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive balance hormone resistance caused by complete deletion of coding region of the thyroid hormone receptors gene. J Clin Endocrinol Metab 1992; 74: 49-55.
27. Clifton Bligh RJ, De Zegher F, Wagner RL, Collingwood TN, Francois I, Van Elvoirt M et al. 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.
28. Macchia E, Agostini M, Sarkissian G, Giorgilli G, Canale D, Scartabeli G et al. Detection of a new de novo mutation at codon 251 of exon 8 of thyroid hormone receptor beta gene in an Italian kindred with resistance to thyroid hormone. J Endocrinol Invest 1998; 21: 226-233.
29. Nagashima T, Yagi H, Nagasima K, Sakurai A, Onigata K, Nomura Y et al. A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone. Thyroid 1997; 7: 771-773.
30. Di Fulvio M, Chiesa AE, Baranzini SE, Gruniero Papendieck L, Masini Repiso AM, Targovnik HM. A new point mutation (M313T) n the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone. Thyroid 1997; 7: 43-44.
31. Pohlenz J, Wildhardt G, Zahel B, Willgerodt H. Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene. Thyroid 1997; 7: 39-41.
32. Collingwood TN, Wagner R, Matthews CH, Clifton Bligh RJ, Gurnell M, Rajanayagam O et al. 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: 4.760-4.770.
33. Holloway JM, Glass CK, Adler S, Nelson CA, Rosenfed MG. The C'-terminal interaction domain of the thyroid hormone receptor confers the ability of the DNA site to dictate positive or negative transcriptional activity. Proc Natl Acad Sci USA 1990; 87: 8.150-8.164.
34. Ribeiro RCJ, Kushner P, Lavin TN, Baxter JD. Trilodothyronine (T3) enhances in vitro recognition of target DNA elements by T3 receptors (T3R) Thyrod (Supl) 1991; 1: 576-583.
35. Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive inheritance hormone resistance caused by complete deletion of beta-coding region of the thyroid hormone receptors gene. J Clin Endocrinol Metab 1992; 74: 49-55.
36. Hodin RA, Lazar MA, Chin WW. Differential and tissue specific regulation of the multiple rat c-erbA messenger RNA species by thyroid hormone. J Clin Invest 1990; 85: 101-105.
37. Sakurai A, Nakai A, DeGrool LJ. Expression of three forms of thyroid hormone receptor in human tissues. Mol Endocrinol 1989; 3: 392-399.
38. Herkowitz I. Functional inactivation of genes by dominant negative mutations. Nature (Lond) 1987; 329: 219-222.
39. Nagaya T, Madison LD, Jameson JL. Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes. J Biol Chem 1992; 267: 13.014-13.019.
40. Yen PK, Sugawara A, Refetoff S, Chin WW. New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalised resistance to thyroid hormone (GRTH). J Clin Invest 1992; 90: 1.825-1.831.
41. Yoh SM, Chalterjee VK, Frivalsky ML. Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional compressors. Mol Endocrinol 1997; 11: 470-480.
42. Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunca H et al. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be dueto a defective cofactor. J Clin Endocrinol Metab 1996; 31: 4.196-4.203.
43. Weiss RE, Tunca H, Knapple WL, Faas FH, Refetoff S. Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C). Thyroid 1997; 7: 35-38.
44. Hayashi Y, Weiss RE, Same DH, Yen PM. Sunthornthepvarakul T. Marcocci C et al. 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: 3.246-3.256.
45. Usala SJ. Resistance to thyroid hormone in children. Curr Opin Pediatr 1994; 6: 468-475.
46. 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: 1.867-1.871.
47. Hauser P, Soler R, Brucker Davis F, Weintraub BD. Thyroid hormones correlate with symptoms of hyperactivity but not inattention in attention deficit hyperaclivity disorder. Psychoneuroendocrinology 1997; 22: 107-114.
48. Stein MA, Weiss RE, Refetoff S. Neurocognitive characteristics of individuals with resistance to thyroid hormone: comparisons with individuals with attention-deficit hyperactivity disorder. J Dev Behav Pediatr 1995; 16: 406-411.
49. Kopelman AE. Delayed cerebral development in twins with congenital hyperthyroidism. Am J Dis Child 1983; 137: 842-845.
50. Daneman D, Howard NJ. Neonatal thyretoxicosis: intellectual impairment and cran osynostosis in later years. J Pediatr 1980; 97: 257-259.
51. Leonard CM, Martinez P, Weintraub BD, Hauser P. Magnetic resonance imaging of cerebral anomalies in subjects with resistance to thyroid hormone. Am J Med Genet 1995; 60: 238-243.
52. DeGroot LJ, Larsen RP, Refetoff S, Stanbury JD. The thyroid and its diseases (5.1 ed.). Nueva York: John Wiley & Sons, 1984; 1-907.
53. Smallridge RC, Parker RA, Wiggs EA, Rajagopal KR, Fein HG. Thyroid hormone resistance in a arge kindred: physiologic, biochemical, pharmacologic, and neuropsychologic studies. Am J Med 1989; 86: 289-296.
54. Pugeat M, Crave JC, Tourniaire J, Forest MG. Clinical utility of sex hormone-binding globulin measurement. Horm Res 1996; 45: 148-155.
55. Refetoff S, Salazar A, Smith TJ, Scherberg NH. Consequences of inappropriate treatment due to failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone. Metabolism 1983; 32: 822-834.
56. Rall JE, Pearson OK, Lipsett MB, Rawson RW. Metabolic effects in man of the acetic-acid analogues of thyroxine and thiodothyronine. J Clin Endocrinol 1956; 16: 1.299.
57. Lerman J. Dissociation of response to triiodothyroacetic acid in myxedema; comparison with response to thyroid substance. Clin Endocrinol 1961; 21: 1.044-1.051.
58. Weinberger C, Thompson CC, Ong ES, Lebo R, Gruol DJ, Evans RM. The c-erb-A gene encodes a thyroid hormone receptor. Nature (Lond) 1986; 324: 641-646.
59. DeGroot LJ. Dangerous dogmas in medicine: the nonthyroidal illness syndrome. J Clin End Met 1999; 84: 151-164.
60. Stockigt JR, Topliss DJ, Barlow JW, White EL, Hurley DM, Taft P. Familial euthyroid thyroxine excess: an appropriate response to abnormal thyroxine-binding associated with albumin. J Clin Endocrinol Metab 1981; 53: 353-359.
61. Beck-Peccoz P, Romelli PB, Cattaneo MG, Faglia G, White EL, Barlow JW, Stockigt JR. Evaluation of free thyroxine methods in the presence of iodothyronine-binding autoantibodies. J Clin Endocrinol Metab 1984; 58: 736-739.
62. Beck-Peccoz P, Brucker-Davis F, Persani L, Smallridge RC, Weintraub BD. Thyrotropin-secreting pituitary tumors. Endocr Rev 1996; 17: 610-638.
63. Burrows GN, Wortzmar G, Rewcastel NB, Holage RC, Kovacs K. Microadenomas of the pituitary and abnormal sella tomograms in an unselected autopsy series. N Engl J Med 1981; 304: 156-158.
64. Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone: primum non nocere. J Clin Endocrinol Metab 1999; 84: 401-404.
65. Sriwatanakul K, McCormick K, Woolf P. Thyrotropin (TSH) induced hyperthyroidism: response of TSH to dopamine and its agonists. J Clin Endocrinol Metab 1984; 58: 255-261.
66. Williams G, Kraezlin M, Sandler L, Burrin J, Law A, Bloom et al. Hyperthyroidism due to non-tumoral inappropriate TSH secretion: effect of long acting somatostatin analogue (SMS 201-995). Acta End (Conpenh) 1996; 113: 42-46
67. Radetti G, Persan L, Molinaro G, Mannavola D, Cortelazzi D, Chatterjee VK et al. Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance. Thyroid 1997; 7: 775-778.
68. Ueda S, Takamatsu J, Fukata S, Tanaka K, Shimizu N, Sakata S et al. 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.
69. Pohlenz J, Knobl D. Treatment of pituitary resistance to thyroid hormone (PRTH) in an 8-year-old boy. Acta Paediatr 1996; 85: 387-390.