Growth and Pubertal Features in a Cohort of 83 Patients with Osteogenesis Imperfecta.

Ozturk A. P., Dudakli A., Ozturan E., Poyrazoglu Ş., Bas F., Darendeliler F.

Klinische Padiatrie, cilt.234, sa.4, ss.199-205, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 234 Sayı: 4
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1055/a-1730-5412
  • Dergi Adı: Klinische Padiatrie
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.199-205
  • Anahtar Kelimeler: osteogenesis imperfecta, growth, puberty, final adult height, GONADOTROPIN-SUPPRESSIVE THERAPY, HEAD CIRCUMFERENCE, CHILDREN, HEIGHT, HORMONE, WEIGHT
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background Osteogenesis imperfecta (OI) is a genetic disease characterized by fragile bones and variable short stature. Method We performed a retrospective cohort study to evaluate demographic data, clinical findings, growth and pubertal characteristics, and medical treatment of 83 OI patients. Results 83 (31 female/52 male) patients were enrolled in the study. The median follow-up duration was 4.7 (0.6-17.7) years. 51 out of 83 patients (61.4%) received bisphosphonate therapy. The median Z-score of the bone mineral density improved in patients with OI-I and OI-III with the treatment. During follow-up, height-SDS significantly increased in both OI-I and OI-III on treatment; however, final adult height SDS of patients did not improve. The frequency of overweight and obesity was found to be increased at the last evaluation compared to the admission. The rate of precocious puberty (PP) and early puberty (EP) were 20 and 10% in girls, and they were 15.7 and 47.3% in boys, respectively. Conclusion Reduced growth, significant weight gain over time due to impaired mobility, and high frequency of PP/EP require effective interventions to improve mobility and functional parameters as early as possible in children with OI.