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

Dina A. Schott*, Willem J. M. Gerver, Constance T. R. M. Stumpel

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Web of Science)

Abstract

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. (C) 2017 S. Karger AG, Basel

Original languageEnglish
Pages (from-to)1-7
Number of pages7
JournalHormone Research in Paediatrics
Volume88
Issue number3-4
DOIs
Publication statusPublished - 2017

Keywords

  • Kabuki syndrome
  • Growth hormone treatment
  • Catch-up growth
  • Insulin-like growth factor
  • Height growth
  • Body proportions
  • NIIKAWA-KUROKI SYNDROME
  • MAKE-UP SYNDROME
  • TURNER-SYNDROME
  • IGF-I
  • REFERENCE INTERVALS
  • MENTAL-RETARDATION
  • BODY PROPORTIONS
  • RESEARCH-SOCIETY
  • HEIGHT VELOCITY
  • FINAL HEIGHT

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