title: Growth Hormone Stimulation Tests in Children with Kabuki Syndrome.
abstract: OBJECTIVE
  Kabuki syndrome is a multiple congenital malformation syndrome with a variety of clinical features including short stature. The cause of this postnatal short stature remains unknown.
  
  
  METHODS
  Eighteen children with genetically proven Kabuki syndrome (8 boys and 10 girls; ages 3.3-9.9 years, with a mean of 6.7 years) who underwent growth hormone (GH) stimulation tests were evaluated in a prospective study. Two GH stimulation tests were conducted, including insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) serum levels. GH stimulation peaks in relation to age, sex, height, body mass index (BMI), IGF-I, and IGFBP-3 SD scores (SDS) were analyzed.
  
  
  RESULTS
  Five of the 18 children (27.8%) were biochemically GH deficient. This was not correlated with BMI SDS. Of all patients, only 1 had an IGF-I below -2 SD and did not fulfill the GH deficiency criteria. The mean IGF-I level was below normal (-0.8 SD). All subjects had normal IGFBP-3 levels.
  
  
  CONCLUSIONS
  The utility of performing GH stimulation tests on Kabuki syndrome children as an indication of GH status in short stature is questionable. IGF-I levels did correlate neither with the GH stimulation peak nor consequently with the diagnosis of GH deficiency.
authors.affiliation: Department of Paediatrics, Zuyderland Medical Centre, Heerlen, The Netherlands.
authors.forename: Dina A
authors.initials: DA
authors.lastname: Schott
authors.forename: Willem J M
authors.initials: WJ
authors.lastname: Gerver
authors.forename: Constance T R M
authors.initials: CT
authors.lastname: Stumpel
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000473:pathology / Q000503:physiopathology; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006402:Hematologic Diseases / Q000097:blood / Q000473:pathology / Q000503:physiopathology; D019382:Human Growth Hormone / Q000008:administration & dosage*; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000097:blood*; D007334:Insulin-Like Growth Factor I / Q000378:metabolism*; D008297:Male; D011446:Prospective Studies; D015837:Vestibular Diseases / Q000097:blood / Q000473:pathology / Q000503:physiopathology
chemical_list: C515497:IGFBP3 protein, human; D018972:Insulin-Like Growth Factor Binding Protein 3; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I