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Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone
A T Soliman1, A Rajab, I AlSalmi
1Department of Paediatrics, Royal Hospital, Muscat, Oman.
Insights
Short stature in pycnodysostosis is linked to poor growth hormone secretion and low insulin-like growth factor-I (IGF-I). Growth hormone therapy improved IGF-I levels and linear growth in affected children.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Skeletal Dysplasias
Background:
- Pycnodysostosis is a rare genetic disorder characterized by skeletal abnormalities.
- Short stature is a prominent clinical manifestation in individuals with pycnodysostosis.
Purpose of the Study:
- To investigate the role of growth hormone secretion and insulin-like growth factor-I (IGF-I) in the short stature associated with pycnodysostosis.
- To evaluate the efficacy of growth hormone replacement therapy in children with pycnodysostosis.
Main Methods:
- Assessed growth hormone secretion through provocation tests in patients with pycnodysostosis.
- Measured serum insulin-like growth factor-I (IGF-I) concentrations.
- Administered physiological growth hormone replacement therapy to eligible patients.
Main Results:
- Five out of six patients with pycnodysostosis exhibited defective growth hormone secretion.
- These patients also presented with low IGF-I concentrations.
- Growth hormone therapy led to increased IGF-I levels and enhanced linear growth.
Conclusions:
- Defective growth hormone secretion and low IGF-I are implicated in the short stature of pycnodysostosis.
- Growth hormone replacement therapy is a viable treatment to improve linear growth in children with this condition.
Abstract:
Short stature is a characteristic feature of pycnodysostosis. We report defective growth hormone secretion in response to provocation and low insulin-like growth factor-I (IGF-I) concentration in five out of six patients with pycnodysostosis. Physiological replacement with growth hormone increased IGF-I concentration and improved linear growth in these children.