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Follow-Up Study of Growth Hormone Therapy in Children with Kabuki Syndrome: Two-Year Treatment Results
Lieke van Montfort1, Willem Jan M Gerver1, Berbel L S Kooger1
1Department of Paediatrics Endocrinology, Maastricht UMC+, Maastricht, The Netherlands.
Insights
Growth hormone therapy in Kabuki syndrome (KS) children improved height and waist circumference without adverse cardiovascular effects. rhGH treatment is safe and effective for KS patients, showing no metabolic syndrome signs.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Kabuki syndrome (KS) is a genetic disorder characterized by distinct facial features, short stature, and potential for hypertension and obesity.
- Evaluating the impact of growth hormone (rhGH) on growth and cardiovascular health in KS patients is crucial.
Purpose of the Study:
- To assess catch-up growth in children with Kabuki syndrome during rhGH treatment.
- To monitor cardiovascular risk markers, including metabolic and inflammatory profiles, before and during rhGH therapy.
Main Methods:
- A prospective study involving 18 genetically confirmed KS children treated with rhGH for 2 years.
- Measurements included anthropometry, glucose metabolism, lipid profiles, endothelial function markers, and low-grade inflammation markers.
Main Results:
- Significant increase in height standard deviation score (SDS) by 1.1 SDS after 2 years of rhGH.
- No baseline cardiometabolic abnormalities or metabolic syndrome signs were observed, even in obese children.
- Decreased LDL cholesterol and apolipoprotein B100; increased vascular cell-adhesion molecule-1; improved BMI and waist circumference. No hypertension noted.
Conclusions:
- rhGH therapy in KS children promotes linear growth effectively.
- rhGH treatment is safe for KS patients, showing no adverse effects on cardiovascular risk markers.
- This study provides the first evidence of rhGH's safety and efficacy in improving linear height in Kabuki syndrome.
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.
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