Unusual phenotypical variations in a boy with McCune-Albright Syndrome

Hormone Research in Paediatrics

Volumn 73, Issue 3, 2010, Pages 215-222

  Mamkin, Irene ^a   Philibert, Pascal ^b   Anhalt, Henry ^c   Ten, Svetlana ^a   Sultan, Charles ^b  

^a MAIMONIDES MEDICAL CENTER   (United States)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

^c SAINT BARNABAS MEDICAL CENTER   (United States)

Author keywords

Caf au lait spots; GNAS1 gene; Macroorchidism; McCune Albright syndrome; Polyostotic fibrous dysplasia; Prepubertal testicular enlargement; Recurrent fractures; Short stature

Indexed keywords

ARGININE; CYSTEINE; GROWTH HORMONE; INHIBIN B; MUELLERIAN INHIBITING FACTOR; PROTEIN SUBUNIT; SOMATOMEDIN C; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ALBRIGHT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CELL FUNCTION; CELL ISOLATION; CHILD; DISEASE ASSOCIATION; DNA DETERMINATION; HORMONE BLOOD LEVEL; HUMAN; MACROORCHIDISM; MALE; PHENOTYPIC VARIATION; PRECOCIOUS PUBERTY; PREPUBERTY; PRIORITY JOURNAL; RADIODIAGNOSIS; SCHOOL CHILD; SERTOLI CELL; SHORT STATURE;

BASE SEQUENCE; CHILD; DIPHOSPHONATES; FIBROUS DYSPLASIA, POLYOSTOTIC; FRACTURES, BONE; GROWTH DISORDERS; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMAN GROWTH HORMONE; HUMANS; LITHIASIS; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; SERTOLI CELLS; TESTIS; TREATMENT OUTCOME;

EID: 77951279610     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000284365     Document Type: Article

References (28)

1. Weil A: Pubertas praecox und Knochenbrüchigkeit. Case presentation of a 9-year old girl with precocious puberty, fragile bones, and dermal pigmentation. Klin Wochenschr 1922; 211: 4-5.
2. McCune DJ: Osteitis fibrosa cystica: the case of a 9-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Children 1936; 52: 743-747.
3. Albright S, Batler AM, Hampton AO, Smith PH: Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. Report of five cases. N Engl J Med 1937; 216: 727-746.
4. McCune DJ, Bruch H: Osteodystrophia fibrosa. Report of a case in which the condition was combined with precocious puberty, pathologic pigmentation of the skin and hyperthyroidism, a review of the literature. Am J Dis Child 1937; 54: 806-848.
5. Weinstein L, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM: Activating mutations of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. N Engl J Med 1991; 325: 1688-1695.
6. Lumbroso S, Paris F, Sultan C: Activating G s- mutation: analysis of 113 patients with signs of McCune-Albright syndrome - a European collaborative study. The J Clin Endocrinol Metab 2004; 89: 2107-2113.
7. Ringel M, 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: 171-184. (Pubitemid 26260235)
8. Lumbroso S, Paris F, Sultan C: McCune-Albright syndrome: molecular genetics. J Pediatr Endocrinol Metab 2002; 15: 875-882.
9. Farfel Z, Bourne HR, Iiri T: The expanding spectrum of G-protein diseases. N Engl J Med 1990; 340: 1012-1020.
10. Weinstein L, Yu S, Warner DR, Liu J: Endocrine manifestations of stimulatory G protein- -subunit mutations and the role of genomic imprinting. Endocr Rev 2001; 22: 675-705.
11. Mauras N, Blizzard RM: The McCune-Albright syndrome. ACTA Endocrinol Suppl 1986; 279: 207-217. (Pubitemid 17170000)
12. Bhansali A, Sharma BS, Sreenivasulu P, Singh P, Vashisth RK, Dash RJ: Acromegaly with fibrous dysplasia: McCune-Albright syndrome. Endocr J 2003; 50: 793-799.
13. Chanson P, Dib A, Visot A, Derome PJ: Mc-Cune-Albright syndrome and acromegaly: clinical studies and responses to treatment in five cases. Eur J Endocrinol 1994; 131: 229-234. (Pubitemid 24297510)
14. Riminucci M, Fisher LW, Shenker A, Spiegel AM, Bianco P, Gehron Robey P: Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. Am J Pathol 1997; 151: 1587-1600. (Pubitemid 27527922)
15. Leet A, Chebli C, Kushner H, Chen CC, Kelly MH, Brillante BA, Robey PG, Bianco P, Wientroub S, Collins MT: Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome. J Bone Miner Res 2004; 19: 571-577. (Pubitemid 41071217)
16. Ippolito E, Edward W, Corsi A, De Maio F, Exner UG, Robey PG; Grill F, Lala R, Massobrio M, Pinggera O, Riminucci M, Snela S, Zambakidis C, Bianco P: Natural history and treatment of fibrous dysplasia of bone: a multicenter clinicopathologic study prompted by the European Pediatric Orthopaedic Society. J Pediatr Orthop 2003; 12: 155-177. (Pubitemid 36578652)
17. Ippolito E, Caterini R, Farsetti P, Potenza V: Surgical treatment of fibrous dysplasia of bone in McCune-Albright syndrome. J Pediatr Endocrinol Metab 2002; 15: 939-944.
18. Chapurlat R, Hugueny P, Delmas P, Meunier P: Treatment of fibrous dysplasia of bone with intravenous pamidronate: long-term effectiveness and evaluation of predictors of response to treatment. Bone 2004; 35: 235-242. (Pubitemid 38789170)
19. Lala R, Matarazzo P, Andreo M, Bellone J, Corrias A: Bisphosphonates treatment of bone fibrous dysplasia in McCune-Albright syndrome. J Pediatr Endocrinol Metab 2006; 19: 583-593. (Pubitemid 43918575)
20. Matarazzo P, Lala R, Masi G, Andreo M, Altare F, de Sanctis C: Pamidronate treatment in bone fibrous dysplasia in children and adolescents with McCune-Albright syndrome. J Pediatr Endocrinol Metab 2002; 15: 929-937. (Pubitemid 36935476)
21. Caverzasio J, Rizzoli R, Bonjour JP: Sodiumdependent phosphate transport inhibited by parathyroid hormone and cyclic AMP stimulation in an opossum kidney cell line. J Biol Chem 1986; 261: 3233-3237. (Pubitemid 17204936)
22. Yamamoto T: Clinical approach to clarifying the mechanism of abnormal bone metabolism in McCune-Albright syndrome. J Bone Miner Metab 2006; 24: 7-10. (Pubitemid 41821496)
23. Dent V, Gartner JM: Hypophosphataemic osteomalacia in fibrous dysplasia. Q J Med 1976; 179: 411-420.
24. Yamamoto T, Miyamoto K, Ozono K, Taketani Y, Katai K, Miyauchi A, Shima M, Yoshikawa H, Yoh K, Takeda E, Okada S: Hypophosphatemic rickets accompanying Mc-Cune-Albright syndrome: evidence that a humoral factor causes hypophosphatemia. J Bone Miner Metab 2001; 19: 287-295. (Pubitemid 32785790)
25. Ray R, Venara M, Coutant R, Trabut JB, Rouleau S, Lahlou N, Sultan C, Limal JM, Picard JY, Lumbroso S: Unexpected mosaicism of R201H-GNAS1 mutant bearing cells in the testes underlie macroorchidism without sexual precocity in McCune-Albright syndrome. Hum Mol Genet 2006; 15: 3538-3543. (Pubitemid 44884121)
26. Cabrera M, Vogiatzi MG, New MI: Longterm outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001; 86: 3070-3078. (Pubitemid 32673467)
27. Ganem J, Workman K, Shaban S: Testicular microlithiasis is associated with testicular pathology. Urology 1999; 53: 209-213. (Pubitemid 29016640)
28. Dagash H, Mackinnon EA: Testicular microlithiasis: what does it mean clinically? Br J Urol 2006; 99: 157-160.