Optic neuropathy in McCune-Albright syndrome: Effects of early diagnosis and treatment of growth hormone excess

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 1, 2013, Pages

  Boyce, Alison M ^a,b,c   Glover, McKinley ^a,d,e   Kelly, Marilyn H ^a   Brillante, Beth A ^a   Butman, John A ^f   Fitzgibbon, Edmond J ^g   Brewer, Carmen C ^h   Zalewski, Christopher K ^h   Cutler Peck, Carolee M ^a,i   Kim, H Jeffrey ^h,j   Collins, Michael T ^a  

^a NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g NATIONAL EYE INSTITUTE   (United States)

^h NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

ⁱ UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^j GEORGETOWN UNIVERSITY HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; GROWTH HORMONE; OCTREOTIDE; PEGVISOMANT; SOMATOMEDIN;

ADULT; ALBRIGHT SYNDROME; ARTICLE; AUDIOLOGY; CANCER RADIOTHERAPY; CLINICAL RESEARCH; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; EARLY DIAGNOSIS; FEMALE; GLUCOSE TOLERANCE TEST; HEARING DISORDER; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MORBIDITY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE DISEASE; OTORHINOLARYNGOLOGY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCORING SYSTEM; SURGICAL TECHNIQUE; TRANSPHENOIDAL SURGERY;

ACROMEGALY; ADOLESCENT; ANTINEOPLASTIC AGENTS; CHILD; CHILD, PRESCHOOL; COMBINED MODALITY THERAPY; CROSS-SECTIONAL STUDIES; EARLY DIAGNOSIS; EARLY MEDICAL INTERVENTION; FIBROUS DYSPLASIA, POLYOSTOTIC; HUMAN GROWTH HORMONE; HUMANS; NEUROSURGERY; OCTREOTIDE; OPTIC NERVE DISEASES; RADIOTHERAPY, ADJUVANT; RETROSPECTIVE STUDIES;

EID: 84872073453     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-2111     Document Type: Article

References (33)

1. McCune DJ 1936 Osteitis fibrosa cystica; the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child 52:743-744
2. Albright F, Butler AM, Hampton AO, Smith PH 1937 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 216:727-746
3. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688-1695
4. Schwindinger WF, Francomano CA, Levine MA 1992 Identification of a mutation in the gene encoding the α-subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 89:5152-5156
5. Dumitrescu CE, Collins MT 2008 McCune-Albright syndrome. Orphanet J Rare Dis 3:12
6. Happle R 1986 The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet 29:321-324
7. Robey PG, Kuznetsov S, Riminucci M, Bianco P 2007 The role of stem cells in fibrous dysplasia of bone and the McCune-Albright syndrome. Pediatr Endocrinol Rev 4(Suppl 4):386-394
8. Akintoye SO, Chebli C, Booher S, Feuillan P, Kushner H, Leroith D, Cherman N, Bianco P, Wientroub S, Robey PG, Collins MT 2002 Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. J Clin Endocrinol Metab 87:5104-5112
9. Lee JS, FitzGibbon E, Butman JA, Dufresne CR, Kushner H, Wientroub S, Robey PG, Collins MT 2002 Normal vision despite narrowing of the optic canal in fibrous dysplasia. N Engl J Med 347:1670-1676
10. Akintoye SO, Kelly MH, Brillante B, Cherman N, Turner S, Butman JA, Robey PG, Collins MT 2006 Pegvisomant for the treatment of gsp-mediated growth hormone excess in patients with McCune-Albright syndrome. J Clin Endocrinol Metab 91:2960-2966
11. Cutler CM, Lee JS, Butman JA, FitzGibbon EJ, Kelly MH, Brillante BA, Feuillan P, Robey PG, DuFresne CR, Collins MT 2006 Longterm outcome of optic nerve encasement and optic nerve decompression in patients with fibrous dysplasia: risk factors for blindness and safety of observation. Neurosurgery 59:1011-1017; discussion 1017-1018
12. Amit M, Collins MT, FitzGibbon EJ, Butman JA, Fliss DM, Gil Z 2011 Surgery versus watchful waiting in patients with craniofacial fibrous dysplasia - a meta-analysis. PloS One 6:e25179
13. Ham DW, Pitman KT, Lassen LF 1998 Fibrous dysplasia of the clivus and sphenoid sinus. Mil Med 163:186-189
14. Madsen H, Borges MT, Kerr JM, Lillehei KO, Kleinschmidt-Demasters BK 2011 McCune-Albright syndrome: surgical and therapeutic challenges in GH-secreting pituitary adenomas. J Neurooncol 104:215-224
15. Vortmeyer AO, Gläsker S, Mehta GU, Abu-Asab MS, Smith JH, Zhuang Z, Collins MT, Oldfield EH 2012 Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome. J Clin Endocrinol Metab 97:2404-2413
16. Ruggieri P, Sim FH, Bond JR, Unni KK 1994 Malignancies in fibrous dysplasia. Cancer 73:1411-1424
17. Hansen MR, Moffat JC 2003 Osteosarcoma of the skull base after radiation therapy in a patient with McCune-Albright syndrome: case report. Skull Base 13:79-83
18. Liu F, Li W, Yao Y, Li G, Yang Y, Dou W, Zhong D, Wang L, Zhu X, Hu H, Zhang J, Wang R, Chen G 2011 A case of McCune-Albright syndrome associated with pituitary GH adenoma: therapeutic process and autopsy. J Pediatr Endocrinol Metab 24:283-287
19. Galland F, Kamenicky P, Affres H, Reznik Y, Pontvert D, Le Bouc Y, Young J, Chanson P 2006 McCune-Albright syndrome and acromegaly: effects of hypothalamopituitary radiotherapy and/or pegvisomant in somatostatin analog-resistant patients. J Clin Endocrinol Metab 91:4957-4961
20. Collins MT, Kushner H, Reynolds JC, Chebli C, Kelly MH, Gupta A, Brillante B, Leet AI, Riminucci M, Robey PG, Bianco P, Wientroub S, Chen CC 2005 An instrument to measure skeletal burden and predict functional outcome in fibrous dysplasia of bone. J Bone Miner Res 20:219-226
21. Vorperian HK, Durtschi RB, Wang S, Chung MK, Ziegert AJ, Gentry LR 2007 Estimating head circumference from pediatric imaging studies an improved method. Acad Radiol 14:1102-1107
22. Ebner FH, Kürschner V, Dietz K, Bültmann E, Nägele T, Honegger J 2010 Craniometric changes in patients with acromegaly from a surgical perspective. Neurosurg Focus 29:E3
23. Iikubo M, Ikeda H, Kobayashi A, Kojima I, Hashimoto K, Sakamoto M, Sasano T 2004 Insulin-like growth factor-I stimulates acromegaly-like specific mandibular enlargement in rats. Horm Metab Res 36:696-701
24. Kojima I, Iikubo M, Kobayashi A, Ikeda H, Sakamoto M, Sasano T 2008 High serum levels of IGF-I contribute to promotion of endochondral ossification in mandibular condyle and cause its specific elongation in acromegaly-like rats. Horm Metab Res 40:533-538
25. Gerard JM, Garibaldi L, Myers SE, Aceto Jr T, Kotagal S, Gibbons VP, Stith J, Weber C 1997 Sleep apnea in patients receiving growth hormone. Clin Pediatr (Phila) 36:321-326
26. Hartman ML, Veldhuis JD, Vance ML, Faria AC, Furlanetto RW, Thorner MO 1990 Somatotropin pulse frequency and basal concentrations are increased in acromegaly and are reduced by successful therapy. J Clin Endocrinol Metab 70:1375-1384
27. Bajuk Studen K, Barkan A 2008 Assessment of the magnitude of growth hormone hypersecretion in active acromegaly: reliability of different sampling models. J Clin Endocrinol Metab 93:491-496
28. Barkan AL, Beitins IZ, Kelch RP 1988 Plasma insulin-like growth factor-I/somatomedin-C in acromegaly: correlation with the degree of growth hormone hypersecretion. J Clin Endocrinol Metab 67:69-73
29. Spiliotis BE, August GP, Hung W, Sonis W, Mendelson W, Bercu BB 1984 Growth hormone neurosecretory dysfunction. A treatable cause of short stature. JAMA 251:2223-2230
30. Zadik Z, Chalew SA, Kowarski A 1990 Assessment of growth hormone secretion in normal stature children using 24-hour integrated concentration of GH and pharmacological stimulation. J Clin Endocrinol Metab 71:932-936
31. Tolis G, Angelopoulos NG, Katounda E, Rombopoulos G, Kaltzidou V, Kaltsas D, Protonotariou A, Lytras A 2006 Medical treatment of acromegaly: comorbidities and their reversibility by somatostatin analogs. Neuroendocrinology 83:249-257
32. Neggers SJ, van der Lely AJ 2009 Somatostatin analog and pegvisomant combination therapy for acromegaly. Nat Rev Endocrinol 5:546-552
33. Schreiber I, Buchfelder M, Droste M, Forssmann K, Mann K, Saller B, Strasburger CJ 2007 Treatment of acromegaly with the GH receptor antagonist pegvisomant in clinical practice: safety and efficacy evaluation from the German Pegvisomant Observational Study. Eur J Endocrinol 156:75-82