title: McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases.
abstract: BACKGROUND
  McCune-Albright syndrome is a rare disorder characterized by endocrine disorders, café-au-lait spots and fibrous dysplasia of bone that occurs early in life.
  
  
  METHODS
  A series of 14 pediatric cases were followed between 1994 and 2013 by the competence center for rare endocrine diseases and constitutional bone diseases at CHU de Nancy (France). The diagnosis is based on the presence of at least two symptoms.
  
  
  RESULTS
  The mean follow-up was 6 years (1-17 years). The sex ratio was six girls per boy. The incidence was 0.28 cases/million population/year. Mean age at diagnosis was 6 years. A mutation in the GNAS gene was found in 33% of patients tested. Gonadal involvement (13/14 cases), including early peripheral puberty and ovarian cysts in girls (82%) occurred on average at 4 years of age. Bone involvement (10/14 cases) appeared on average at 5 years of age and was most often multiple (80%) with fracture risk, and the skull, with a neurosensory risk.
  
  
  CONCLUSIONS
  Clinical definition and methods of screening and monitoring can be improved to allow for an earlier intervention. It must be multidisciplinary and take into account the disability and quality of life of the patient.
authors: University of Lorraine, University Hospital of Nancy, Department of Endocrinology and Medical Gynecology, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France. Electronic address: m.agopiantz@chu-nancy.fr.
authors: Mikael
authors: M
authors: Agopiantz
authors: University of Lorraine, Department of Pediatric Orthopedics Surgery, Competence Medical Center for constitutional bone diseases, CHU de Nancy, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.
authors: Pierre
authors: P
authors: Journeau
authors: University of Lorraine, University Hospital of Nancy, Department of Pediatrics and Medical Genetics, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.
authors: Béatrice
authors: B
authors: Lebon-Labich
authors: University of Lorraine, University Hospital of Nancy, Department of Pediatrics and Medical Genetics, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.
authors: Arthur
authors: A
authors: Sorlin
authors: University of Lorraine, University Hospital of Nancy, Department of Endocrinology and Medical Gynecology, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.
authors: Thomas
authors: T
authors: Cuny
authors: University of Lorraine, University Hospital of Nancy, Department of Endocrinology and Medical Gynecology, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France; University of Lorraine, University Hospital of Nancy, Competence Medical Center for rare endocrine diseases, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.
authors: Georges
authors: G
authors: Weryha
authors: University of Lorraine, University Hospital of Nancy, Department of Pediatrics and Medical Genetics, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France; University of Lorraine, University Hospital of Nancy, Competence Medical Center for rare endocrine diseases, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.
authors: Bruno
authors: B
authors: Leheup
mesh_terms: D001847:Bone Diseases; D019080:Cafe-au-Lait Spots; D002648:Child; D002675:Child, Preschool; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D005602:France; D006801:Humans; D033183:Interdisciplinary Communication; D008297:Male; D009154:Mutation; D010053:Ovary / Q000503:physiopathology; D011629:Puberty, Precocious; D011788:Quality of Life; D012189:Retrospective Studies; D013737:Testis / Q000503:physiopathology
keywords: Disability; Handicap; Histoire naturelle; Management; McCune–Albright syndrome; Natural history; Pediatrics; Prise en charge; Pédiatrie; Syndrome de McCune-Albright