ESPE Abstracts

Aim: Osteogenesis imperfecta (OI) is a genetic disease of extracellular matrix presenting with varying degrees of skeletal fragility. The study aims to evaluate growth and pubertal characteristics of 83 patients with OI.

Materials and methods: Patients were classified according to Sillence clinical classification criteria. Demographic data, clinical findings, growth and pubertal characteristics were recorded from medical charts, retrospectively.

Results: Eighty-three (31 female/52 male) patients were analyzed in the study. The median follow-up duration was 4.7 (0.6-17.7) years. Fifty-one (61.4%) patients received bisphosphonate therapy. With treatment, improvement in the median of bone mineral density Z-score of patients with OI-I and OI-III was attained. During follow-up, height-SDS significantly increased in both OI-I and OI-III on osteoporosis treatment; however, patients who achieved final adult height SDS did not improve in height. The frequency of overweight and obesity was found to be increased at the last evaluation compared to admission. Precocious puberty (PP) and early puberty (EP) were found to be 20% and 10% in girls, respectively, and they were 15.7% and 47.3% in boys.

Conclusion: Reduced growth, significant weight gain over time due to impaired mobility and high frequency of PP/EP require effective functional modifications as early as possible in children with OI.

Keywords: Osteogenesis imperfecta, Growth, Puberty