Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism

Molecular and Cellular Endocrinology

Volumn 322, Issue 1-2, 2010, Pages 125-134

  Gozu, Hulya Iliksu ^a   Lublinghoff, Julia ^b   Bircan, Rifat ^c   Paschke, Ralf ^b  

^a VAKIF GUREBA TRAINING AND RESEARCH HOSPITAL   (Turkey)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c NAMIK KEMAL UNIVERSITY   (Turkey)

Author keywords

Germline TSH receptor mutations

Indexed keywords

ANTITHYROID AGENT; RADIOACTIVE IODINE; THYROTROPIN RECEPTOR;

CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; FAMILIAL NON AUTOIMMUNE HYPERTHYROIDISM; FAMILY HISTORY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GOITER; HUMAN; HYPERTHYROIDISM; MOLECULAR GENETICS; PRIORITY JOURNAL; RELAPSE; REVIEW; SPORADIC NON AUTOIMMUNE HYPERTHYROIDISM; THYROID HYPERPLASIA; THYROIDECTOMY; THYROTOXICOSIS;

GERM-LINE MUTATION; GOITER; HUMANS; HYPERTHYROIDISM; MUTATION; PHENOTYPE; RECEPTORS, THYROTROPIN;

EID: 77952879300     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2010.02.001     Document Type: Review

References (66)

1. Alberti L., Proverbio M.C., Costagliola S., Weber G., Beck-Peccoz P., Chiumello G., Persani L. A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism. Eur. J. Endocrinol. 2001, 145(3):249-254.
2. Allgeier A., Offermanns S., Van Sande J., Spicher K., Schultz G., Dumont J.E. The human thyrotropin receptor activates G-proteins Gs and Gq/11. J. Biol. Chem. 1994, 269(19):13733-13735.
3. Akcurin S., Turkkahraman D., Tysoe C., Ellard S., De Leener A., Vassart G., Costagliola S. A family with a novel TSH receptor activating germline mutation (p.Ala485Val). Eur. J. Pediatr. 2008, 167:1231-1237.
4. Antonarakis S.E. Recommendations for a nomenclature system for human gene mutations. Hum. Mutat. 2002, 11:1-3. The Nomenclature Working Group.
5. Arturi F., Chiefari E., Tumino S., Russo D., Squatrito S., Chazenbalk G., Persani L., Rapoport B., Filetti S. Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation. J. Endocrinol. Invest. 2002, 25:696-701.
6. Biebermann H., Schoneberg T., Hess C., Germak J., Gudermann T., Gruters A. The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. J. Clin. Endocrinol. Metab. 2001, 86:4429-4433.
7. Bircan R., Miehle K., Mladenova G., Ivanova R., Sarafova A., Borissova A.M., Lüblinghoff J., Paschke R. Multiple relapses of hyperthyroidism after thyroid surgeries in a patient with long term follow-up of sporadic non-autoimmune hyperthyroidism. Exp. Clin. Endocrinol. Diabetes 2008, 116(6):341-346.
8. Borgel K., Pohlenz J., Koch H.G., Bramswig J.H. Long term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val). Horm. Res. 2005, 64:203-208.
9. Chester J., Rotenstein D., Ringkananont U., Steuer G., Carlin B., Stewart L., Grasberger H., Refetoff S. Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene. J. Pediatr. Endocrinol. Metab. 2008, 21(5):479-486.
10. Claus M., Maier J., Paschke R., Kujat C., Stumvoll M., Führer D. Novel thyrotropin receptor germline mutation (Ile568-Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism. Thyroid 2005, 15:1089-1094.
11. de Roux N., Polak M., Couet J., Leger J., Czernichow P., Milgrom E., Misrahi M. A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J. Clin. Endocrinol. Metab. 1996, 81:2023-2026.
12. Duprez L., Parma J., van Sande J., Allgeier A., Leclere J., Schwartz C., Delisle M.J., Decoulx M., Orgiazzi J., Dumont J. Germline mutations in the thyrotropin receptor gene cause nonautoimmune hyperthyroidism. Nat. Genet. 1994, 7:396-401.
13. Elgadi A., Arvidsson C.G., Janson A., Marcus C., Costagliola S., Norgren S. Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms. Acta. Paediatr. 2005, 94(8):1145-1148.
14. Esapa C.T., Duprez L., Ludgate M., Mustafa M.S., Kendall-Taylor P., Vassart G., Haris P.E. A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis. Thyroid 1999, 9:1005-1010.
15. Eszlinger M., Jaeschke H., Paschke R. Insights from molecular pathways: potential pharmacologic targets of benign thyroid nodules. Curr. Opin. Endocrinol. Diabetes Obes. 2007, 14(5):393-397.
16. Ferrara A.M., Capalbo D., Rossi G., Capuano S., Del P.G., Esposito V., Montesano G., Zampella E., Fenzi G., Salerno M., Macchia P.E. A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation. Thyroid 2007, 17:677-680.
17. Führer D., Wonerow P., Willgerodt H., Paschke R. Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. J. Clin. Endocrinol. Metab. 1997, 82:4234-4238.
18. Führer D., Mix M., Wonerow P., Richter I., Willgerodt H., Paschke R. Variable phenotype associated with Ser505-Asn-activating thyrotropin-receptor germline mutation. Thyroid 1999, 9:757-761.
19. Führer D., Warner J., Sequeira M., Paschke R., Gregory J., Ludgate M. Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism. Thyroid 2000, 10:1035-1041.
20. Gozu I.H., Mueller S., Bircan R., Krohn K., Ekinci G., Yavuzer D., Sargin H., Sargin M., Ones T., Gezen C., Orbay E., Cirakoglu B., Paschke R. A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation. Thyroid 2008, 18(5):499-508.
21. Gozu I.H., Lüblinghoff J., Bircan R., Pfäffle R., Paschke R. Non-autoimmune autosomal dominant hyperthyroidism. Encyclopedia of Molecular Mechanisms of Disease 2009, 945-948. Springer, Berlin Heidelberg. F. Lang (Ed.).
22. Gozu I.H., Lüblinghoff J., Bircan R., Pfäffle R., Paschke R. Sporadic non-autoimmune hyperthyroidism. Encyclopedia of Molecular Mechanisms of Disease 2009, 948-951. Springer, Berlin/Heidelberg. F. Lang (Ed.).
23. Gruters A., Schoneberg T., Biebermann H., Krude H., Krohn H.P., Dralle H., Gudermann T. Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor. J. Clin. Endocrinol. Metab. 1998, 83:1431-1436.
24. Holzapfel H.P., Wonerow P., von Petrykowski W., Henschen M., Scherbaum W.A., Paschke R. Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. J. Clin. Endocrinol. Metab. 1997, 82:3879-3884.
25. Horton G.L., Scazziga B.R. Hereditary hyperthyroidism with diffuse nonautoimmune hyperactivity due to autonomy of function and growth. Ann. Endocrinol. (Paris) (Abstr.) 1987, 48:92.
26. Hung W., Sarlis N.J. Autoimmune and non-autoimmune hyperthyroidism in pediatric patients: a review and personal commentary on management. Pediatr. Endocrinol. Rev. 2004, 2(1):21-38.
27. Iacovelli L., Franchetti R., Masini M., De Blasi A. GRK2 and beta-arrestin 1 as negative regulators of thyrotropin receptor-stimulated response. Mol. Endocrinol. 1996, 10:1138-1146.
28. Jäschke, H., Lüblinghoff, J., Coslovsky, R., Eszlinger, M., Paschke, R., 2010. Non autoimmune familial hyperthyroidism with a M626I TSHR mutation in a patient with prolonged TSH suppression after thyroid ablation (Abstract). DGE 2010.
29. Karges B., Krause G., Homoki J., Debatin M.K., de Roux N., Karges W. TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constrains between transmembrane helices TMH3 and TMH5. J. Endocrinol. 2005, 186:377-385.
30. Khoo D.H., Parma J., Rajasoorya C., Ho S.C., Vassart G. A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family. J. Clin. Endocrinol. Metab. 1999, 84:1459-1462.
31. Kleinau G., Brehm M., Wiedemann U., Labudde D., Leser U., Krause G. Implications for molecular mechanisms of glycoprotein hormone receptors using a new sequence-structure-function analysis resource. Mol. Endocrinol. 2007, 21:574-580.
32. Kopp P., van Sande J., Parma J., Duprez L., Gerber H., Joss E., Jameson J.L., Dumont J.E., Vassart G. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N. Engl. J. Med. 1995, 323:183-185.
33. Kopp P., Jameson J.L., Roe T.F. Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. Thyroid 1997, 7:765-770.
34. Kopp P. Human genome and diseases. The TSH receptor and its role in thyroid disease. C.M.L.S. 2001, 58:1301-1322.
35. Krohn K., Führer D., Bayer Y., Eszlinger M., Brauer V., Neumann S., Paschke R. Molecular pathogenesis of euthyroid and toxic multinodular goiter. Endocr. Rev. 2005, 26(4):504-524.
36. Lafranchi S.L., Hanna C.E. Graves' disease in the neonatal period and childhood. Werner and Ingbar's The Thyroid: A Fundamental and Clinical Text 2005, 1049-1059. Lippincott, Philadelphia. L.E. Braverman, R.D. Utiger (Eds.).
37. Lavard L., Sehested A., Brock Jacobsen B., Muller J., Perrild H., Feldt-Rasmussen U., Parma J., Sart G. Long-term follow-up of an infant with thyrotoxicosis due to germline mutation of the TSH receptor gene (Met453Thr). Horm. Res. 1999, 51(1):43-46.
38. Lee Y.S., Poh L., Loke K.Y. An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism. J. Pediatr. Endocrinol. Metab. 2002, 15:211-215.
39. Lüblinghoff J., Müller S., Sontheimer J., Paschke R. Lack of consistent association of TSH receptor mutations in vitro activity with the clinical course of patients with sporadic non-autoimmune hyperthyroidism. J. Endocrinol. Invest. 2009, (Epub ahead of print).
40. Lüblinghoff, J., Müller, S., Jäschke, H., Eszlinger, M., Berger, H., Bircan, R., Gozu, H., Sancak, S., Paschke, R., submitted for publication. Different in vitro activities of sporadic, familial and somatic TSH-Receptor (TSHR) mutations but lack of genotype/phenotype correlations for somatic TSH-receptor mutations.
41. Müller S., Gozu H.I., Bircan R., Jäschke H., Eszlinger M., Lüblinghoff J., Krohn K., Paschke R. Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not?. Thyroid 2009, 19(7):765-773.
42. Nishihara E., Nagayama Y., Amino N., Hishinuma A., Takano T., Yoshida H., Kubota S., Fukata S., Kuma K., Miyauchi A. A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism. Endocr. J. 2007, 54(6):927-934.
43. Nishihara E., Fukata S., Hishinuma A., Kudo T., Ohye H., Ito M., Kubota S., Amino N., Kuma K., Miyauchi A. Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient. Endocr. J. 2006, 53(6):735-740.
44. Nwosu B.U., Gourgiotis L., Gershengorn M.C., Neumann S. A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism. Thyroid 2006, 16(5):505-512.
45. Ogilvy-Stuart A.L. Neonatal thyroid disorders. Arch. Dis. Child. Fetal Neonatal Ed. 2002, 87(3):F165-F171.
46. Paschke R., Ludgate M. The thyrotropin receptor in thyroid diseases. N. Engl. J. Med. 1997, 337:1675-1681.
47. Penela P., Barradas M., Alvarez-Dolado M., Munoz A., Mayor F. Effect of hypothyroidism on G protein-coupled receptor kinase 2 expression levels in rat liver, lung, and heart. Endocrinology 2001, 142:987-991.
48. Peters C.J., Hindmarsh P.C. Management of neonatal endocrinopathies-best practice guidelines. Early Hum. Dev. 2007, 83(9):553-561.
49. Pohlenz J., Pfarr N., Kruger S., Hesse V. Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R). Acta. Paediatr. 2006, 95:1685-1687.
50. Polak M. Hyperthyroidism in early infancy: pathogenesis, clinical features and diagnosis with a focus on neonatal hyperthyroidism. Thyroid 1998, 8(12):1171-1177.
51. Polak M., Legac I., Vuillard E., Guibourdenche J., Castanet M., Luton D. Congenital hyperthyroidism: the fetus as a patient. Horm. Res. 2006, 65(5):235-242.
52. Radetti G., Zavallone A., Gentili L., Beck-Peccoz P., Bona G. Fetal and neonatal thyroid disorders. Minerva Pediatr. 2002, 54(5):383-400.
53. Rapoport B., Chazenbalk G.D., Jaume J.C., Mc Lachlan S.M. The thyrotropin (TSH) receptor: interaction with TSH and autoantibodies. Endocr. Rev. 1998, 19(6):673-716.
54. Ringkananont U., Van D.J., Montanelli L., Ugrasbul F., Yu Y.M., Weiss R.E., Refetoff S., Grasberger H. Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I). Mol. Endocrinol. 2006, 20:893-903.
55. Rodien P., Ho S.C., Vlaeminick V., Vassart G., Costagliola S. Activating mutations of TSH receptor. Ann. Endocrinol. 2003, 64(1):12-16.
56. Schwab K.O., Gerlich M., Broecker M., Sohlemann P., Derwahl M., Lohse J. Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism. J. Pediatr. 1997, 131:899-904.
57. Supornsilchai V., Sahakitrungruang T., Wongjitrat N., Wacharasindhu S., Suphapeetiporn K., Shotelersuk V. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. Clin. Endocrinol. (Oxf.) 2009, 70:623-628.
58. Thomas J.L., Leclere J., Hartemann P., Duheille J., Orgiazzi J., Petersen M., Janot C., Guedenet J.C. Familial hyperthyroidism without evidence of autoimmunity. Acta Endocrinol. (Copenh.) 1982, 100:512-518.
59. Tonacchera M., van Sande J., Cetani F., Swillens S., Schvartz C., Winiszewski P., Portmann L., Dumont J.E., Vassart G., Parma J. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J. Clin. Endocrinol. Metab. 1996, 81:547-554.
60. Tonacchera M., Agretti P., Rosellini V., Ceccarini G., Perri A., Zampolli M., Longhi R., Larizza D., Pinchera A., Vitti P., Chiovato L. Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene. Thyroid 2000, 10:859-863.
61. Trulzsch B., Krohn K., Wonerow P., Chey S., Holzapfel H.P., Ackermann F., Fuhrer D., Paschke R. Detection of thyroid-stimulating hormone receptor and Gsalpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis. J. Mol. Med. 2001, 78:684-691.
62. Vaidya B., Campbell V., Tripp J.H., Spyer G., Hattersley A.T., Ellard S. Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to activating thyrotropin receptor gene mutation. Clin. Endocrinol. 2004, 60:711-718.
63. Voigt C., Holzapfel H.P., Paschke R. Increased expression of G-protein-coupled receptor kinases 3 and 4 in hyperfunctioning thyroid nodules. J. Endocrinol 2004, 182:173-182.
64. Voigt C., Holzapfel H., Paschke R. Expression of beta-arrestins in toxic and cold thyroid nodules. FEBS Lett. 2000, 486:208-212.
65. Watkins M.G., Dejkhamron P., Huo J., Vazquez D.M., Menon R.K. Persistent neonatal thyrotoxicosis in a neonate secondary to a rare thyroid-stimulating hormone receptor activating mutation: case report and literature review. Endocr. Pract. 2008, 14(May-June (4)):479-483.
66. Zeiger M.A., Saji M., Gusev Y., Westra W.H., Takiyama Y., Dooley W.C., Kohn L.D., Levine M.A. Thyroid-specific expression of cholera toxin A1 subunit causes thyroid hyperplasia and hyperthyroidism in transgenic mice. Endocrinology 1997, 138(8):3133-3140.