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Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

AbstractBACKGROUND:
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.
CONCLUSION:
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.
AuthorsNele Reynaert, C W Ockeloen, L Sävendahl, D Beckers, K Devriendt, T Kleefstra, C E L Carels, G Grigelioniene, A Nordgren, I Francois, F de Zegher, K Casteels
JournalHormone research in paediatrics (Horm Res Paediatr) Vol. 83 Issue 5 Pg. 361-4 ( 2015) ISSN: 1663-2826 [Electronic] Switzerland
PMID25833229 (Publication Type: Case Reports, Journal Article)
Copyright© 2015 S. Karger AG, Basel.
Chemical References
  • Human Growth Hormone
Topics
  • Abnormalities, Multiple
  • Bone Diseases, Developmental (complications)
  • Child
  • Facies
  • Growth Disorders (complications, drug therapy)
  • Human Growth Hormone (therapeutic use)
  • Humans
  • Intellectual Disability (complications)
  • Male
  • Tooth Abnormalities (complications)
  • Treatment Outcome

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