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

Abstract

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.

Zusammenfassung

Ziel Osteogenesis imperfecta (OI) ist eine genetisch-bedingte Erkrankung mit fragilen Knochen und variabler Kleinwuchsform.

Methodik Wir führten eine retrospektive Kohortenstudie durch, um demografische Daten, klinische Befunde, Wachstums- und Pubertätsmerkmale sowie die medizinische Behandlung von 83 OI-Patienten zu bewerten.

Ergebnisse 83 (31 weibliche/52 männliche) Patienten wurden in die Studie aufgenommen. Der Median der Follow-up-Dauer lag bei 4,7 (0,6–17,7) Jahren. 51von 83 (61,4%) Patienten erhielten die Bisphosphonat-Therapie. Der Median Z-Score der Knochenmineraldichte verbesserte sich bei Patienten mit OI-I und II-III mit der Behandlung. Während des Follow-ups stieg die Größe-SDS sowohl bei OI-I als auch bei OI-III unter Behandlung signifikant an; das endgültige SDS der Erwachsenengröße der Patienten verbesserte sich jedoch nicht. Die Häufigkeit von Übergewicht und Adipositas war bei der letzten Bewertung im Vergleich zur Aufnahme erhöht. Die Rate der vorzeitigen Pubertät (precocious puberty – PP) und der frühen Pubertät (early puberty – EP) betrug bei Mädchen 20% bzw. 10% und bei Jungen 15,7% bzw. 47,3%.

Schlussfolgerung Reduziertes Wachstum, signifikante Gewichtszunahme im Laufe der Zeit aufgrund eingeschränkter Mobilität und hohe Häufigkeit der PP/EP erfordern wirksame Interventionen, um die Mobilität und die funktionellen Parameter so früh wie möglich bei Kindern mit OI zu verbessern.

Key words

osteogenesis imperfecta - growth - puberty - final adult height

Schlüsselwörter

Osteogenesis imperfect - Wachstum - Pubertät - endgültige Erwachsenengröße

Publication History

Article published online:
09 February 2022

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