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Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results
Dina A Schott1, Willem J M Gerver2, Constance T R M Stumpel3
1Department of Paediatrics, Zuyderland Medical Centre, Heerlen, the Netherlands.
Insights
Growth hormone (GH) treatment improved height in children with Kabuki syndrome (KS), a rare genetic disorder. This treatment led to catch-up growth without altering body proportions in young patients.
Area of Science:
- Pediatric Endocrinology
- Genetics and Rare Diseases
- Growth Disorders
Background:
- Kabuki syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, developmental delay, and short stature.
- Growth hormone deficiency is common in KS, impacting linear growth and overall height.
Purpose of the Study:
- To evaluate the efficacy of recombinant human growth hormone (rhGH) in increasing linear height in children with KS.
- To assess the impact of rhGH treatment on body proportions in KS patients.
Main Methods:
- A prospective study involving 18 prepubertal children with genetically confirmed KS.
- Treatment with rhGH for 1 year, with regular monitoring of height, height velocity, BMI, sitting height, and leg length.
- Assessment of bone age, insulin-like growth factor (IGF-I), and IGF binding protein 3 (IGFBP-3) levels.
Main Results:
- Significant increase in height standard deviation score (SDS) from -2.40 to -1.69 after 1 year of rhGH treatment (p < 0.05).
- Catch-up growth observed, with 10 subjects showing >0.7 SDS increase and 3 subjects showing >0.5 SDS increase.
- Younger age at treatment initiation, specific gene mutations (KMT2D vs. KDM6A), and GH deficiency status correlated with greater height increases (p < 0.05).
Conclusions:
- rhGH treatment effectively promotes catch-up growth in children with Kabuki syndrome.
- Growth hormone therapy in KS patients does not adversely affect body proportions.
- Early initiation of rhGH therapy may yield better growth outcomes in KS.
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.
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