Background: Osteogenesis imperfecta is a rare collagen related hereditary disease leading to recurrent fractures, reduced mobility, muscular weakness and short stature.
Objective and hypotheses: It was always discussed if the reduced height is a consequence of the impaired collagen production, a reaction of the body to the brittleness of bones or if the patient might suffer from an additional deficiency of growth hormone (GH).
Method: In a retrospective analysis 60 children (28 male; OI type 3 n=22, OI type 4 n=38) were investigated during their regular yearly examinations and stratified according to the clinical severity of the disease.
Results: Results are presented in Table 1 showing severely reduced height z-scores with normal IGF1 and IGF-BP3 levels.
|OI III||OI IV||p|
|Number of patients||22||38|
Conclusions: Patients with OI III and IV have a severely reduced height with a significant difference of z-scores depending on the severity of the disease but without alterations of IGF1 and IGF-BP3. Therefore there is no evidence for a general GH deficiency in children with OI and a treatment with GH seems to be unreasonable.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology