title: Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.
abstract: BACKGROUND
  KBG syndrome is a rare disorder characterized by intellectual disability and associated with macrodontia of the upper central incisors, specific craniofacial findings, short stature and skeletal anomalies. Genetic corroboration of a clinical diagnosis has been possible since 2011, upon identification of heterozygous mutations in or a deletion of the ANKRD11 gene.
  
  
  METHODS
  We summarized the height data of 14 adults and 18 children (age range 2-16 years) with a genetically confirmed diagnosis of KBG syndrome. Two of these children were treated with growth hormones.
  
  
  RESULTS
  Stature below the 3rd centile or -1.88 standard deviation score (SDS) was observed in 72% of KBG children and in 57% of KBG adults. Height below -2.50 SDS was observed in 62% of KBG children and in 36% of KBG adults. The mean SDS of height in KBG children was -2.56 and in KBG adults -2.17. Two KBG children on growth hormone therapy increased their height by 0.6 and 1 SDS within 1 year, respectively. The former also received a gonadotropin-releasing hormone agonist due to medical necessity.
  
  
  CONCLUSIONS
  Short stature is prevalent in KBG syndrome, and spontaneous catch-up growth beyond childhood appears limited. Growth hormone intervention in short KBG children is perceived as promising.
authors.affiliation: Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Nele
authors.initials: N
authors.lastname: Reynaert
authors.forename: C W
authors.initials: CW
authors.lastname: Ockeloen
authors.forename: L
authors.initials: L
authors.lastname: Sävendahl
authors.forename: D
authors.initials: D
authors.lastname: Beckers
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: T
authors.initials: T
authors.lastname: Kleefstra
authors.forename: C E L
authors.initials: CE
authors.lastname: Carels
authors.forename: G
authors.initials: G
authors.lastname: Grigelioniene
authors.forename: A
authors.initials: A
authors.lastname: Nordgren
authors.forename: I
authors.initials: I
authors.lastname: Francois
authors.forename: F
authors.initials: F
authors.lastname: de Zegher
authors.forename: K
authors.initials: K
authors.lastname: Casteels
mesh_terms: D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental / Q000150:complications*; D002648:Child; D019066:Facies; D006130:Growth Disorders / Q000150:complications / Q000188:drug therapy*; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D014071:Tooth Abnormalities / Q000150:complications*; D016896:Treatment Outcome
chemical_list: D019382:Human Growth Hormone