Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results

Horm Res Paediatr. 2017;88(3-4):258-264. doi: 10.1159/000479368. Epub 2017 Aug 9.


Background/aims: Kabuki syndrome (KS) is a rare genetic malformation syndrome, resulting in characteristic features such as short stature. We investigate whether growth hormone (GH) treatment increases linear height and influences body proportions in KS children.

Methods: In this prospective study, 18 genetically confirmed prepubertal KS children (9 females and 9 males) aged from 3.8 to 10.1 years (mean 6.8 ± 2.1 years) were treated with recombinant human GH (rhGH) for 1 year. Calculations for height, height velocity, BMI, sitting height, and subischial leg length were made. Bone age, insulin-like growth factor (IGF-I), and IGF binding protein 3 (IGFBP-3) were also measured.

Results: This study showed an increase in height standard deviation score (SDS) for the whole group from -2.40 to -1.69 (p < 0.05) after 1 year of rhGH treatment. The change in height SDS within 1 year was >0.7 SDS for 10 subjects and >0.5 SDS for 3 subjects. The mean IGF-I SDS at the start of the study was -0.70 (±1.07), which increased after 12 months to 1.41 (±0.91) (p < 0.05). KS children who received rhGH at a younger age displayed significantly greater increases in height than those who started when they were older. The same was true for both gene mutation KMT2D versus KDM6A and for GH deficiency versus non-GH deficiency KS children (p < 0.05). Throughout the course of rhGH treatment, the subjects' body proportions remained normal.

Conclusions: All participants experienced catch-up growth during the year of rhGH treatment, but without an influence on body proportions.

Keywords: Body proportions; Catch-up growth; Growth hormone treatment; Height growth; Insulin-like growth factor; Kabuki syndrome.

MeSH terms

  • Abnormalities, Multiple / drug therapy*
  • Abnormalities, Multiple / genetics
  • Child
  • Child, Preschool
  • DNA-Binding Proteins / genetics
  • Dwarfism, Pituitary / drug therapy*
  • Dwarfism, Pituitary / genetics
  • Face / abnormalities*
  • Female
  • Hematologic Diseases / drug therapy*
  • Hematologic Diseases / genetics
  • Histone Demethylases / genetics
  • Hormone Replacement Therapy*
  • Human Growth Hormone / therapeutic use*
  • Humans
  • Male
  • Mutation
  • Neoplasm Proteins / genetics
  • Nuclear Proteins / genetics
  • Treatment Outcome
  • Vestibular Diseases / drug therapy*
  • Vestibular Diseases / genetics


  • DNA-Binding Proteins
  • KMT2D protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • Human Growth Hormone
  • Histone Demethylases
  • KDM6A protein, human

Supplementary concepts

  • Kabuki syndrome