Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2

Abstract

Purpose: Short stature is common in osteogenesis imperfecta (OI) and is usually severe in OI types III and IV. The characteristics of pubertal growth in OI have not been studied in detail.

Methods: We assessed 82 individuals with OI caused by pathogenic variants in COL1A1 or COL1A2 who had annual height data between 6 and 16 years of age at a minimum. Height velocity curves were fitted to each individual's height data to describe the pubertal growth spurt.

Results: Curve fitting was successful in 30 of the 33 individuals with OI type I (91%), in 23 of the 32 individuals with OI type IV (72%), and in 4 of the 17 participants with OI type III (24%). Pubertal growth spurt could be identified in most individuals with OI types I and IV, but rarely in OI type III. The timing of the pubertal growth spurt was similar between OI types I and IV in both sexes. However, height velocity was consistently higher in OI type I, leading to a widening height gap between OI types I and IV.

Conclusion: A pubertal growth spurt was present in most individuals with OI types I and IV, but rarely in OI type III.

Keywords: COL1A1; COL1A2; Children; Osteogenesis imperfecta; Pubertal growth.