Sindrome di McCune-Albright

2117

MALATTIE RARE

Sindrome di McCune-Albright

Malgorzata Wasniewska, Alessandra Li Pomi

Dipartimento di Patologia Umana dell’adulto e dell’età evolutiva “G. Barresi” Università di Messina

Il Pediatra 5-19, pagg. 54-57

Bibliografia

  1. Foster CM. Endocrine Manifestations of McCune-Albright Syndrome. Endocrinologist. 1993;3:359–64.
  2. Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008 May 19;3:12.
  3. Turan S, Bastepe M. GNAS Spectrum of Disorders. Curr Osteoporos Rep. 2015;13(3):146-58.
  4. Vasilev V, Daly A.F., Thiry A., Petrossians P., et al. McCune-Albright syndrome: a detailed pathological and genetic analysis of disease effects in an adult patient. J Clin Endocrinol Metab. 2014;99(10):E2029–38.
  5. Hartley I, Zhadina M, Collins MT, Boyce AM. Fibrous Dysplasia of Bone and McCune-Albright Syndrome: A Bench to Bedside Review. Calcif Tissue Int. 2019;104(5):517-529. doi: 10.1007/s00223-019-00550-z.
  6. Wasniewska M, Matarazzo P, Weber G, Russo G, Zampolli M, Salzano G, Zirilli G, Bertelloni S; Italian Study Group for Alterations of Gs alpha Protein Function. Clinical presentation of McCune-Albright syndrome in males. J Pediatr Endocrinol Metab. 2006 Suppl 2:619-22.
  7. Matarazzo P, Lala R, Andreo M, Einaudi S, Altare F, Viora E, Buzi F, De Luca F, De Sanctis V, Rigon F, Wasniewska M, de Sanctis L, de Sanctis C; Study Group for Gs alpha Protein Related Diseases of the Italian Society for Pediatric Endocrinology and Diabetes. McCune-Albright syndrome: persistence of autonomous ovarian hyperfunction during adolescence and early adult age. J Pediatr Endocrinol Metab. 2006 May;19 Suppl 2:607-17.
  8. Boyce A.M., Chong W.H., Shawker T.H., Pinto P.A., et al. Characterization and management of testicular pathology in McCune-Albright syndrome. J Clin Endocrinol Metab. 2012;97(9):E1782–90.
  9. Wasniewska M, De Luca F, Bertelloni S, Matarazzo P, Weber G, Crisafulli G, Valenzise M, Lala R. Testicular microlithiasis: an unreported feature of McCune-Albright syndrome in males. J Pediatr. 2004;145(5):670-2.
  10. Arrigo T, Pirazzoli P, de Sanctis L, Leone O, Wasniewska M, Messina MF, De Luca F. McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation. Horm Res. 2006;65(3):114-9.
  11. Tessaris D, Corrias A, Matarazzo P, De Sanctis L, Wasniewska M, Messina MF, Vigone MC, Lala R. Thyroid abnormalities in children and adolescents with McCune-Albright syndrome. Horm Res Paediatr. 2012;78(3):151-7.
  12. Salenave S, Boyce AM, Collins MT, Chanson P. Acromegaly and McCune- Albright syndrome. J Clin Endocrinol Metab. 2014; 99:1955–69.
  13. Tessaris D, Boyce AM, Zacharin M, Matarazzo P, Lala R, De Sanctis L, Collins MT. Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome. Clin Endocrinol (Oxf). 2018;89(1):56-64.
  14. Rostomyan L., Beckers A. Screening for genetic causes of growth hormone hypersecretion. Growth Horm IGF Res. 2016;30-31:52–57.
  15. Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis. 2012; 7(Suppl 1):S4.
  16. Collins MT, Chebli C, Jones J, Kushner H, Consugar M, Rinaldo P, et al. Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. J Bone Miner Res. 2001; 16:806–13.
  17. Brown R.J., Kelly M.H., Collins M.T. Cushing syndrome in the McCune-Albright syndrome. J Clin Endocrinol Metab. 2010;95(4):1508–15.
  18. Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, Arunde P, Shaw N, Pos VD, Underhil A, Portero D, Heral L, Heegaard AM, Masi L, Monsell F, Stanton R, Dijkstra PDS, Brandi ML, Chapurlat R, Hamdy NAT, Collins MT. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis. 2019; 14(1):139.
  19. Corica D, Aversa T, Pepe G, De Luca F, Wasniewska M. Peculiarities of Precocious Puberty in Boys and Girls With McCune-Albright Syndrome. Front Endocrinol (Lausanne). 2018;9:337.
  20. Stanton RP, IE, Springfield D, Lindaman L, Wientroub S, Leet A. The surgical management of fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7 Suppl 1:S1.
  21. Plotkin H., Rauch F., Zeitlin L., Munns C., et al. Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. J Clin Endocrinol Metab. 2003;88(10):4569–75.

 

 

 

 

 

 

 

 

 

 

 

 

 

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