title: Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess.
abstract: BACKGROUND
  GH excess is a serious complication of McCune-Albright syndrome (MAS) and has been associated with craniofacial morbidity.
  
  
  OBJECTIVE
  The aim of the study was to determine whether early diagnosis and treatment of MAS-associated GH excess prevents optic neuropathy and hearing impairment, the major morbidities associated with GH excess.
  
  
  METHODS
  A retrospective cross-sectional analysis was conducted at a clinical research center.
  
  
  METHODS
  Twenty-two subjects with MAS-associated GH excess and 21 control MAS subjects without GH excess were included in the study.
  
  
  METHODS
  Biochemical testing included random GH, nadir GH after glucose load, nadir GH on frequent sampling, and IGF-I Z-score. Subjects underwent imaging, ophthalmological, audiological, and otolaryngological assessment. Treatment included octreotide, pegvisomant, transphenoidal surgery, and/or radiotherapy as indicated.
  
  
  METHODS
  Association of optic neuropathy and hearing impairment to age at GH excess diagnosis/treatment was measured.
  
  
  RESULTS
  Of 129 MAS subjects, 26 (20%) were diagnosed with GH excess based on elevation of two measures of GH function. Of these, 22 subjects were candidates for pharmacological intervention. Optic neuropathy was significantly correlated with intervention status, with no cases in the early intervention group (diagnosed/treated before age 18) or the control group, and four of seven (57%) in the late intervention group (diagnosed/treated after age 18) (Fisher's exact test; odds ratio, 0.027; P = 0.0058). Early diagnosis/intervention was not associated with reduction in hearing deficits (odds ratio, 1.25; P = 1.00). Mean head circumference SD score was significantly higher in the late (6.08; range, 2.70 to 22.56) than the early intervention (2.67; range, -0.65 to 6.72) or control groups (2.13; range, -2.06 to 7.79) (P = 0.003).
  
  
  CONCLUSIONS
  Early diagnosis/treatment of GH excess in MAS is important to prevent optic neuropathy and craniofacial expansion. The relationship between hearing deficits and GH excess remains less clear and requires further study.
authors.affiliation: Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA. aboyce@childrensnational.org
authors.forename: Alison M
authors.initials: AM
authors.lastname: Boyce
authors.forename: McKinley
authors.initials: M
authors.lastname: Glover
authors.forename: Marilyn H
authors.initials: MH
authors.lastname: Kelly
authors.forename: Beth A
authors.initials: BA
authors.lastname: Brillante
authors.forename: John A
authors.initials: JA
authors.lastname: Butman
authors.forename: Edmond J
authors.initials: EJ
authors.lastname: Fitzgibbon
authors.forename: Carmen C
authors.initials: CC
authors.lastname: Brewer
authors.forename: Christopher K
authors.initials: CK
authors.lastname: Zalewski
authors.forename: Carolee M
authors.initials: CM
authors.lastname: Cutler Peck
authors.forename: H Jeffrey
authors.initials: HJ
authors.lastname: Kim
authors.forename: Michael T
authors.initials: MT
authors.lastname: Collins
mesh_terms: D000172:Acromegaly / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*; D000293:Adolescent; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D003430:Cross-Sectional Studies; D042241:Early Diagnosis; D061345:Early Medical Intervention / Q000379:methods; D005359:Fibrous Dysplasia, Polyostotic / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D019382:Human Growth Hormone / Q000031:analogs & derivatives / Q000097:blood / Q000378:metabolism / Q000627:therapeutic use; D006801:Humans; D009493:Neurosurgery; D015282:Octreotide / Q000627:therapeutic use; D009901:Optic Nerve Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D018714:Radiotherapy, Adjuvant; D012189:Retrospective Studies
chemical_list: D000970:Antineoplastic Agents; D019382:Human Growth Hormone; C406545:pegvisomant; D015282:Octreotide