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Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment
Nele Reynaert1, C W Ockeloen, L Sävendahl
1Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium.
Hormone Research in Paediatrics
|April 3, 2015
Summary
Short stature is common in KBG syndrome, affecting most children and adults. Growth hormone therapy shows promise for improving height in affected children.
Area of Science:
- Genetics and Endocrinology
- Pediatric Growth Disorders
Background:
- KBG syndrome is a rare genetic disorder linked to ANKRD11 gene mutations.
- Characterized by intellectual disability, distinctive facial features, short stature, and skeletal anomalies.
Observation:
- Study analyzed height data from 14 adults and 18 children with genetically confirmed KBG syndrome.
- Two children received growth hormone (GH) therapy.
Findings:
- 72% of KBG children and 57% of adults exhibited short stature (below 3rd centile or -1.88 SDS).
- Height below -2.50 SDS was observed in 62% of children and 36% of adults.
- GH-treated children showed height increases of 0.6-1 SDS within one year.
Implications:
- Short stature is a significant feature of KBG syndrome with limited spontaneous catch-up growth.
- Growth hormone intervention appears beneficial for height improvement in short KBG children.
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