Resistance to thyrotropin

Journal of Endocrinological Investigation

Volumn 26, Issue 8, 2003, Pages 770-779

  Refetoff, Samuel ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Mutation; Resistance to TSH; Thyrotropin; Thyrotropin receptor

Indexed keywords

GLYCOPROTEIN; LEVOTHYROXINE; LIGAND; PROTIRELIN; THYROID HORMONE; THYROID TRANSCRIPTION FACTOR 1; THYROID TRANSCRIPTION FACTOR 2; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE;

AMINO ACID SUBSTITUTION; CONCENTRATION (PARAMETERS); DIAGNOSTIC ERROR; DOMINANT INHERITANCE; DRUG DOSE REGIMEN; ENDOCRINE GROWTH AND DEVELOPMENT DISORDERS; EUTHYROIDISM; FAMILIAL INCIDENCE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HORMONE RESISTANCE; HUMAN; HYPOPLASIA; HYPOTHALAMUS HYPOPHYSIS THYROID SYSTEM; HYPOTHYROIDISM; LIGAND BINDING; NEWBORN SCREENING; PHENOTYPE; REVIEW; THYROID FUNCTION; THYROTROPIN BLOOD LEVEL;

EID: 0344876159     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03347364     Document Type: Review

References (43)

1. Morley J.E. Neuroendocrine control of thyrotropin secretion. Endocr. Rev. 1981; 2: 396-436.
2. Berry M.J., Larsen P.R. The role of selenium in thyroid hormone action. Endocr. Rev. 1992, 13: 207-219, 1992.
3. St. Germain D.L., Galton V.A. The deiodinase family of selenoproteins. Thyroid 1997, 7: 655-668.
4. Zhang M., Phuong K., Tong T., et al. The extracellular domain suppresses constitutive activity of the transmembrane domain of the human TSH receptor: Implications for hormone-receptor interaction and antagonist design. Endocrinology 2000; 141: 3514-3517.
5. Vlaeminck-Guillem V., Ho, S.C., Rodien P., Vassart G., Costagliola S. Activation of the cAMP pathway by the TSH receptor involves switching of them ectodomain from a tethered inverse agonist to an agonist. Mol. Endocrinol. 2002, 16: 736-746.
6. Nagayama Y., Rapoport B. The thyrotropin receptor 25 years after its discovery: New insight after its molecular cloning. Mol. Endocrinol. 1992, 6: 145-156.
7. Vassart G., Dumont J.E. The thyrotropin receptors and the regulation of thyrocyte function and growth. Endocr. Rev. 1992, 13: 596-611.
8. Bockaert J., Pin J.P. Molecular tinkering of G protein-coupled receptors: An evolutionary success. EMBO. J. 1999, 18: 1723-1729.
9. Kajava A.V., Vassart G., Wodak S.J. Modeling of the three-dimentional structure of proteins with the typical leucine-rich repeats. Structure 1995, 3: 867-877.
10. Libert F., Passage E., Lefort A., Vassart G., Mattei M.G. Localization of human thyrotropin receptor gene to chromosome region 14q3 by in situ hybridization. Cytogenet. Cell Genet. 1990, 54: 82-83.
11. Gross B., Misrahi M., Sar S., Milgrom E. Composite structure of the human thyrotropin receptor gene. Biochem. Biophys Res. Commun. 1991, 177: 679-687.
12. Libert F., Parmentier, M., Lefort A., et al. Selective amplification and cloning of four new members of the G protein-coupled receptor family. Science 1989, 244: 569-572.
13. Refetoff S., Dumont J.E., Vassart G. Thyroid disorders. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Vogeldstein B (Eds.), The Metabolism and Molecular Basis of Inherited Disease, 8th ed. Mac Graw-Hill, New York, 2000, pp. 4029-4075.
14. Stanbury J.B., Rocmans P., Buhler U.K., Ochi Y. Congenital hypothyroidism with impaired thyroid response to thyrotropin. N. Engl. J. Med. 1968, 279: 1132-1136.
15. Codaccioni J.L., Carayon P., Michel-Bechet M., Foucault F., Lefort G., Pierron H. Congenital hypothyroidism associated with thyrotropin unresponsiveness and thyroid cell membrane alterations. J. Clin. Endocrinol. Metab. 1980, 50: 932-937.
16. Aarseth H.P., Hang E., Raknerud N., Frey H.M. TSH unresponsiveness, a case report. Acta Endocrinol. (Copenh.) 1983, 102: 358-366.
17. Medeiros-Neto G.A., Knobel M., Bronstein M.D. Impaired cyclic-AMP response to thyrotropin in congenital hypothyroidism with thyroglobulin deficiency. Acta Endocrinol. (Copenh.) 1979, 92: 62-68.
18. Takamatsu J., Nishikawa M., Horimoto M., Ohsawa N. Familial unresponsiveness to thyrotropin by autosomal recessive inheritance. J. Clin. Endocrinol. Metab. 1993, 77: 1569-1573.
19. Takeshita A., Nagayama Y., Yamashita S., et al. Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness. Thyroid 1994, 4: 255-259.
20. Sunthornthepvarakul T., Gotschalk M.E., Hayashi Y. Refetoff S. Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N. Engl. J. Med. 1995, 332: 155-160.
21. Libert F., Lofort A., Gerald C., et al. Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: Evidence for binding of autoantibodies. Biochem. Biophys. Res. Commun. 1989, 165: 1250-1255.
22. Jameson J.L., Powers A.C., Gallagher G.D., Habener JF. Enhancer and promoter element interactions dictate cyclic adenosine monophophate mediated and cell-specific expression of the glycoprotein hormone α-gene. Mol. Endocrinol. 1989, 3: 763-772.
23. Alberti L., Proverbio M.C., Costagliola S., et al. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J. Clin. Endocrinol. Metab. 2002, 87: 2549-2555.
24. De Roux N., Misrahi M., Brouner R., et al. Four families with loss of function mutations of the thyrotropin receptor. J. Clin. Endocrinol. Metab. 1996, 81: 4229-4235.
25. Tonacchera M., Agretti P., De Marco G., et al. Thyroid resistance to TSH complicated by autoimmune thyroiditis. J. Clin. Endocrinol. Metab. 2001, 86: 4543-4536.
26. Biebermann H., Schöneberg T., Krude H., Schultz G., Gudermann T., Grüters A. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistant congenital hypothyroidism. J. Clin. Endocrinol. Metab. 1997, 82: 3471-3480.
27. Clifton-Bligh R.J., Gregory J.W., Ludgate M., et al. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J. Clin. Endocrinol. Metab. 1997, 82: 1094-1100.
28. Abramowicz M.J., Duprez L., Parma J., Vassart G., Heinrichs C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J. Clin. Invest. 1997, 99: 3018-3024.
29. Gagné N., Parma J., Deal C., Vassart G., Van Vliet G. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: Are athyreosis and ectopic thyroid distinct entities? J. Clin. Endocrinol. Metab. 1998, 83: 1771-1775.
30. Tiosano D., Pannain S., Vassart G., et al. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor. Thyroid 1999, 9: 887-894.
31. Tonacchera M., Agretti P., Pinchera A., et al. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: Evidence for a new inactivating mutation of the TSH receptor gene. J. Clin. Endocrinol. Metab. 2000, 85: 1001-1008.
32. Russo D., Betterle C., Arturi F., Chiefari E., Girelli M.E., Filetti S. A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH. J. Clin. Endocrinol. Metab. 2000, 85: 4238-4242.
33. Nagashima T., Murakami M., Onigata K., et al. Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. Thyroid 2001, 11: 551-559.
34. Bretones P., Duprez L., Parma J., David M., Vassart G., Rodien P. Familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene. Thyroid 2001, 11: 977-980.
35. Biebermann H., Grüters A., Schöneberg T., Gudermann T. Congenital hypothyroidism caused by mutations in the thyrotropin-receptor gene. N. Engl. J. Med. 1997, 336: 1390-1391.
36. Costagliola S., Sunthornthepvarakul T., Migeotte I., et al. Structure-function relationship of two loss-of-function mutations of the thyrotropin receptor gene. Thyroid 1999, 9: 995-1000.
37. Kobe B., Deisenhofer J. The leucine-rich repeat: A versatile binding motif. TIBS 1994, 415-421.
38. Mimouni M., Mimouni-Bloch A., Schachter J., Shuhat M. Familial hypothyroidism with autosomal dominant inheritance. Arch. Dis. Child. 1996, 75: 245-246.
39. Nogueira C.R., Nguyen L.Q., Coelho-Neto J.R., et al. Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia. Thyroid 1999, 9: 523-528.
40. Xie J., Pannain S., Pohlenz J., et al. Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J. Clin. Endocrinol. Metab. 1997, 82: 3933-3940.
41. Levine M.A., Jap T.S., Mauseth R.S., Downs R.W., Spiegel A.M. Activity of the stimulatory guanine nucleotide-binding protein is reduced by erythrocytes from patients with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism: Biochemical, endocrine and genetic analysis of Albright's hereditary osteodystrophy in 6 kindreds. J. Clin. Endocrinol. Metab. 1986, 62: 497-502.
42. Spiegel A.M., Shenker A., Weinstein L.S. Receptor-effector coupling by G proteins: Implications for normal and abnormal signal transduction. Endocr. Rev. 1992, 13: 536-565.
43. Damante G., Di Lauro R. Thyroid-specific gene expression. Biochim. Biophys. Acta 1994, 1218: 255-266.