Bone health assessment in children with osteogenesis imperfecta from a pediatric endocrinology perspective

Abstract

Objective: Osteogenesis imperfecta (OI) is an uncommon hereditary disorder of connective tissue that results in fragile bones due to abnormalities in collagen structure. This study aimed to evaluate bone health in children with OI who were hospitalized for fracture treatment. Materials and Methods: This retrospective observational study reviewed the records of children aged 3–18 years and diagnosed with OI and hospitalized in the pediatric orthopedics ward for fractures between May 1, 2023, and January 31, 2026. The patients’ demographic characteristics, biochemical parameters, bone mineral density (BMD) Z-scores, vertebral radiographs, vitamin D levels, sun exposure, and treatment status were evaluated. Results: A total of 37 patients participated in the study. The average age of the patients was 10.35±3.82 years, and 78.4% were male. Mean BMD Z-score was -1.44±1.61. Vertebral fractures were present in 27% of the patients. Significant differences were observed between groups stratified by vitamin D levels for age (p = 0.020), serum calcium (p = 0.003), phosphorus (p = 0.005), alkaline phosphatase (p = 0.027), parathyroid hormone (p = 0.018), and BMD Z-score (p = 0.023). Patients with vitamin D deficiency showed lower serum calcium levels and BMD Z-scores. Additionally, a statistically significant positive correlation was identified between BMD Z-score and serum calcium levels (r=0.343; p=0.038). Conclusion: Evaluation of skeletal health in children with OI should not rely solely on BMD measurements; vertebral fractures, biochemical markers, growth, and environmental factors should also be considered. Collaboration between pediatric orthopedics and pediatric endocrinology is vital for better long-term outcomes.