Follow-Up Study of Growth Hormone Therapy in Children with Kabuki Syndrome: Two-Year Treatment Results

Horm Res Paediatr. 2021;94(7-8):285-296. doi: 10.1159/000519963. Epub 2021 Oct 4.


Introduction: Kabuki syndrome (KS) is a genetic disorder with characteristic facial dysmorphisms, short stature, hypertension, and obesity later in life. The aim of this study was to evaluate catch-up growth and cardiovascular markers before and during growth hormone (rhGH) treatment in KS children.

Methods: This prospective study included 18 children whose KS was genetically established. Each KS subject received rhGH for a period of 2 years. Several measurements were performed before and during treatment: anthropometry, glucose metabolism, lipid profile, markers for endothelial function, and low-grade inflammation.

Results: This study found an increase in delta height standard deviation score (SDS) for the whole group of 1.1 SDS after 2 years of rhGH treatment. Baseline metabolic profiles showed no cardiometabolic abnormalities in these children. Although 4 out of 18 children were obese, there were no signs of the metabolic syndrome. During rhGH treatment, serum low-density lipoprotein cholesterol concentrations decreased significantly (2.16-1.91 mmol/L, p = 0.04). Apolipoprotein B100 concentrations also showed a reduction after 24 months of treatment, but the other lipid and (apo)lipoprotein parameters did not change. While other endothelial function markers were stable, only vascular cell-adhesion molecule-1 concentrations increased (1,084-1,161 pg/mL, p < 0.01) during rhGH therapy. Furthermore, BMI and waist circumference improved during treatment. There were no signs of hypertension.

Conclusions: At baseline and during rhGH therapy, there were no signs of the metabolic syndrome. This is the first study demonstrating that rhGH treatment in KS children is a safe and effective therapy and that it positively influences linear height without exerting adverse effects on a wide array of cardiovascular risk markers.

Keywords: Cardiovascular risk factors; Growth hormone; Kabuki syndrome.

MeSH terms

  • Abnormalities, Multiple / drug therapy*
  • Abnormalities, Multiple / genetics
  • Body Height / drug effects*
  • Face / abnormalities*
  • Follow-Up Studies
  • Hematologic Diseases / drug therapy*
  • Hematologic Diseases / genetics
  • Human Growth Hormone / administration & dosage*
  • Human Growth Hormone / deficiency
  • Human Growth Hormone / pharmacology*
  • Humans
  • Metabolic Syndrome
  • Obesity / drug therapy*
  • Prospective Studies
  • Vestibular Diseases / drug therapy*
  • Vestibular Diseases / genetics
  • Waist Circumference


  • Human Growth Hormone

Supplementary concepts

  • Kabuki syndrome