Thyroid disease in patients with McCune-Albright syndrome

Pediatric Endocrinology Reviews

Volumn 4, Issue SUPPL. 4, 2007, Pages 429-433

  Congedo, Valentina ^a,b   Celi, Francesco Saverio ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^b UNIVERSITY OF CHIETI   (Italy)

Author keywords

GNAS; Goiter; McCune Albright syndrome; Thionamides; Thyroid; Thyroid cancer; Thyrotoxicosis; Ultrasound

Indexed keywords

IODINE 131; LIOTHYRONINE; PROPYLTHIOURACIL; THIONAMIDE; THYROXINE;

ALBRIGHT SYNDROME; ARTICLE; CAFE AU LAIT SPOT; CLINICAL FEATURE; DISEASE ASSOCIATION; ECHOGRAPHY; ENDOCRINE DISEASE; GOITER; HUMAN; HYPERTHYROIDISM; HYPOPHYSIS TUMOR; HYPOTHYROIDISM; LOW DRUG DOSE; SURGICAL TECHNIQUE; THYROID CANCER; THYROID DISEASE; THYROID FUNCTION; THYROID GLAND; THYROTOXICOSIS;

FIBROUS DYSPLASIA, POLYOSTOTIC; HUMANS; THYROID DISEASES;

EID: 35148840193     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (51)

1. Feuillan PP, Shawker T, Rose SR, Jones J, Jeevanram RK, Nisula BC. Thyroid abnormalities in the McCune-Albright syndrome: ultrasonography and hormonal studies. J Clin Endocrinol Metab 1990;71(6):1596-1601
2. Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome. Long-term follow-up. JAMA 1986;256(21):2980-2984
3. Ringel MD, Schwindinger WF, Levine MA. Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine (Baltimore) 1996;75(4):171-184
4. Mastorakos G, Mitsiades NS, Doufas AG, Koutras DA. Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report. Thyroid 1997;7(3):433-439
5. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991;325(24):1688-1695
6. Collins MT, Sarlis NJ, Merino MJ, Monroe J, Crawford SE, Krakoff JA, Guthrie LC, Bonat S, Robey PG, Shenker A. Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. J Clin Endocrinol Metab 2003;88(9):4413-4417
7. Muca C, Vallar L. Expression of mutationally activated G alpha s stimulates growth and differentiation of thyroid FRTL5 cells. Oncogene 1994;9(12):3647-3653
8. Nemoz G, Sette C, Hess M, Muca C, Vallar L, Conti M. Activation of cyclic nucleotide phosphodiesterases in FRTL-5 thyroid cells expressing a constitutively active Gs alpha. Mol Endocrinol 1995;9(10):1279-1287
9. Michiels FM, Caillou B, Talbot M, Dessarps-Freichey F, Maunoury MT, Schlumberger M, Mercken L, Monier R, Feunteun J. Oncogenic potential of guanine nucleotide stimulatory factor alpha subunit in thyroid glands of transgenic mice. Proc Natl Acad Sci USA 1994;91(22):10488-10492
10. Zeiger MA, Saji M, Gusev Y, Westra WH, Takiyama Y, Dooley WC, Kohn LD, Levine MA. Thyroid-specific expression of cholera toxin A1 subunit causes thyroid hyperplasia and hyperthyroidism in transgenic mice. Endocrinology 1997;138(8):3133-3140
11. Ivan M, Ludgate M, Gire V, Bond JA, Wynford-Thomas D. An amphotropic retroviral vector expressing a mutant gsp oncogene: effects on human thyroid cells in vitro. J Clin Endocrinol Metab 1997;82(8):2702-2709
12. Villone G, De Amicis F, Veneziani BM, Salzano S, Di Carlo A, Tramontano D. Sustained versus transient cyclic AMP intracellular levels: effect on thyrotropin-dependent growth of thyroid cells. Cell Growth Differ 1997;8(11):1181-1188
13. Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, Van Wyk JJ, Merino MJ, Feuillan PP, Spiegel AM. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr 1993;123(4):509-518
14. De Sanctis C, Lala R, Matarazzo P, Balsamo A, Bergamaschi R, Cappa M, Cisternino M, de Sanctis V, Lucci M, Franzese A, Ghizzoni L, Pasquino AM, Segni M, Rigon F, Saggese G, Bertelloni S, Buzi F. McCune-Albright syndrome: a longitudinal clinical study of 32 patients. J Pediatr Endocrinol Metab 1999;12(6):817-826
15. Bareille P, Azcona C, Stanhope R. Multiple neonatal endocrinopathies in McCune-Albright syndrome. J Paediatr Child Health 1999;35(3):315-318
16. Yettra M, Starr P. Polyostotic fibrous dysplasia associated with hyperthyroidism. J Clin Endocrinol Metab 1951;11(3):312-321
17. Bhansali A, Sharma BS, Sreenivasulu P, Singh P, Vashisth RK, Dash RJ. Acromegaly with fibrous dysplasia: McCune-Albright Syndrome - clinical studies in 3 cases and brief review of literature. Endocr J 2003;50(6):793-799
18. Lawless ST, Reeves G, Bowen JR. The development of thyroid storm in a child with McCune-Albright syndrome after orthopedic surgery. Am J Dis Child 1992;146(9):1099-1102
19. Isotani H, Sanda K, Kameoka K, Takamatsu J. McCune-Albright syndrome associated with non-autoimmune type of hyperthyroidism with development of thyrotoxic crisis. Horm Res 2000;53(5):256-259
20. Yoshimoto M, Nakayama M, Baba T, Uehara Y, Niikawa N, Ito M, Tsuji Y. case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism. Acta Paediatr Scand 1991;80(10):984-987
21. Sevel D, James HE, Burns R, Jones KL. McCune-Albright syndrome (fibrous dysplasia) associated with an orbital tumor. Ann Ophthalmol 1984;16(3):283-289, 93-97
22. Richton SM, Maclaren NK, McLaughlin JV, Raiti S. Albright's syndrome presenting as thyrotoxicosis: follow-up of a case. Pediatrics 1979;63(1):159-162
23. Gessl A, Freissmuth M, Czech T, Matula C, Hainfellner JA, Buchfelder M, Vierhapper H. Growth hormone-prolactin-thyrotropin-secreting pituitary adenoma in atypical McCune-Albright syndrome with functionally normal Gs alpha protein. J Clin Endocrinol Metab 1994;79(4):1128-1134
24. Brogan P, Khadilkar VV, Stanhope R. Occult T3 toxicosis in McCune-Albright syndrome. Horm Res 1998;50(2):105-106
25. Salvatore D, Tu H, Harney JW, Larsen PR. Type 2 iodothyronine deiodinase is highly expressed in human thyroid. J Clin Invest 1996;98(4):962-968
26. Murakami M, Araki O, Hosoi Y, Kamiya Y, Morimura T, Ogiwara T, Mizuma H, Mori M. Expression and regulation of type II iodothyronine deiodinase in human thyroid gland. Endocrinology 2001;142(7):2961-2967
27. Bartha T, Kim SW, Salvatore D, Gereben B, Tu HM, Harney JW, Rudas P, Larsen PR. Characterization of the 5′-flanking and 5′-untranslated regions of the cyclic adenosine 3′,5′-monophosphate-responsive human type 2 iodothyronine deiodinase gene. Endocrinology 2000;141(1):229-237
28. Canettieri G, Celi FS, Baccheschi G, Salvatori L, Andreoli M, Centanni M. Isolation of human type 2 deiodinase gene promoter and characterization of a functional cyclic adenosine monophosphate response element. Endocrinology 2000;141(5):1804-1813
29. Brtko J, Bobalova J, Podoba J, Schmutzler C, Kohrle J. Thyroid hormone receptors and type I iodothyronine 5′-deiodinase activity of human thyroid toxic adenomas and benign cold nodules. Exp Clin Endocrinol Diabetes 2002;110(4):166-170
30. Babcock DS. Thyroid disease in the pediatric patient: emphasizing imaging with sonography. Pediatr Radiol 2006;36(4):299-308, quiz 72-73
31. Smith JR, Oates E. Radionuclide imaging of the thyroid gland: patterns, pearls and pitfalls. Clin Nucl Med 2004;29(3):181-193
32. Lair-Milan F, Blevec GL, Carel JC, Chaussain JL, Adamsbaum C. Thyroid sonographic abnormalities in McCune-Albright syndrome. Pediatr Radiol 1996;26(6):424-426
33. Garcia CJ, Daneman A, Thorner P, Daneman D. Sonography of multinodular thyroid gland in children and adolescents. Am J Dis Child 1992;146(7):811-816
34. Kim JP, Khera SA. Polyostotic fibrous dysplasia associated with hyperthyroidism. J Bone Joint Surg Am 1961;43-A:897-904
35. Giovannelli G, Bernasconi S, Banchini G. McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma. J Pediatr 1978;92(2):220-226
36. Abs R, Beckers A, Van de Vyver FL, De Schepper A, Stevenaert A, Hennen G. Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia. A variant of the McCune-Albright syndrome. J Endocrinol Invest 1990;13(8):671-675
37. Sargin H, Gozu H, Bircan R, Sargin M, Avsar M, Ekinci G, Yayla A, Gulec I, Bozbuga M, Cirakoglu B, Tanakol R. A case of McCune-Albright syndrome associated with Gs alpha mutation in the bone tissue. Endocr J 2006;53(1):35-44
38. Zeiger MA, Saji M, Caturegli P, Westra WH, Kohn LD, Levine MA. Transformation of rat thyroid follicular cells stably transfected with cholera toxin A1 fragment. Endocrinology 1996;137(12):5392-5399
39. Krohn K, Paschke R. Somatic mutations in thyroid nodular disease. Mol Genet Metab 2002;75(3):202-208
40. Viacava P, Bocci G, Tonacchera M, Fanelli G, DeServi M, Agretti P, Berti E, Goletti O, Aretini P, Resta ML, Bevilacqua G, Naccarato AG. Markers of cell proliferation, apoptosis and angiogenesis in thyroid adenomas: a comparative immunohistochemical and genetic investigation of functioning and nonfunctioning nodules. Thyroid 2007;17(3):191-197
41. Gozu HI, Bircan R, Krohn K, Muller S, Vural S, Gezen C, Sargin H, Yavuzer D, Sargin M, Cirakoglu B, Paschke R. Similar prevalence of somatic TSH receptor and Gsalpha mutations in toxic thyroid nodules in geographical regions with different iodine supply in Turkey. Eur J Endocrinol 2006;155(4):535-545
42. Spambalg D, Sharifi N, Elisei R, Gross JL, Medeiros-Neto G, Fagin JA. Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation. J Clin Endocrinol Metab 1996;81(11):3898-3901
43. Yoshimoto K, Iwahana H, Fukuda A, Sano T, Itakura M. Rare mutations of the Gs alpha subunit gene in human endocrine tumors. Mutation detection by polymerase chain reaction-primer-introduced restriction analysis. Cancer 1993;72(4):1386-1393
44. Gorelov VN, Gyenes M, Neser F, Roher HD, Goretzki PE. Distribution of Gs-alpha activating mutations in human thyroid tumors measured by subcloning. J Cancer Res Clin Oncol 1996;122(8):453-457
45. Bourasseau I, Savagner F, Rodien P, Duquenne M, Reynier P, Guyetant S, Bigorgne JC, Malthiery Y, Rohmer V. No evidence of thyrotropin receptor and G(s alpha) gene mutation in high iodine uptake thyroid carcinoma. Thyroid 2000;10(9):761-765
46. Esapa C, Foster S, Johnson S, Jameson JL, Kendall-Taylor P, Harris PE. G protein and thyrotropin receptor mutations in thyroid neoplasia. J Clin Endocrinol Metab 1997;82(2):493-436
47. Waldmann V, Rabes HM. Absence of G(s)alpha gene mutations in childhood thyroid tumors after Chernobyl in contrast to sporadic adult thyroid neoplasia. Cancer Res 1997;57(12):2358-2361
48. Spada A, Mantovani G, Lania A. Inactivating and activating mutations of the Gs alpha gene. Ann Endocrinol (Paris) 2005;66(3):258-263
49. Collins MT. McCune-Albright Syndrome. In: Orphanet Encyclopedia; 2004
50. Leonard JL, Rosenberg IN. Thyroxine 5′-deiodinase activity of rat kidney: observations on activation by thiols and inhibition by propylthiouracil. Endocrinology 1978;103(6):2137-2144
51. Visser TJ, Kaplan MM, Leonard JL, Larsen PR. Evidence for two pathways of iodothyronine 5′-deiodination in rat pituitary that differ in kinetics, propylthiouracil sensitivity and response to hypothyroidism. J Clin Invest 1983;71(4):992-1002