Abstract：
OBJECTIVE: 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.
CONCLUSIONS: A pubertal growth spurt was present in most individuals with OI types I and IV, but rarely in OI type III.
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.
CONCLUSIONS: A pubertal growth spurt was present in most individuals with OI types I and IV, but rarely in OI type III.
摘要：
目的：身材矮小在成骨不全症（OI）中很常见，在III型和IV型OI中通常很严重。尚未详细研究OI的青春期生长特征。
方法：我们评估了82例COL1A1或COL1A2致病变异引起的OI患者，这些患者的年身高数据至少在6至16岁之间。身高速度曲线与每个人的身高数据拟合，以描述青春期的生长突增。
结果：在33名I型OI个体中，有30名（91%）曲线拟合成功，在32例OIIV型患者中，有23例(72%)，17名OIIII型参与者中有4名(24%)。在大多数OI型和IV型OI个体中可以发现青春期生长突增，但很少在III型OI中。两种性别的I型和IV型OI之间的青春期生长突增时间相似。然而,在OI型中，高度速度始终较高，导致OI型和IV型之间的高度差距扩大。
结论：大多数I型和IV型OI个体出现青春期生长突增，但很少在III型OI中。
方法：我们评估了82例COL1A1或COL1A2致病变异引起的OI患者，这些患者的年身高数据至少在6至16岁之间。身高速度曲线与每个人的身高数据拟合，以描述青春期的生长突增。
结果：在33名I型OI个体中，有30名（91%）曲线拟合成功，在32例OIIV型患者中，有23例(72%)，17名OIIII型参与者中有4名(24%)。在大多数OI型和IV型OI个体中可以发现青春期生长突增，但很少在III型OI中。两种性别的I型和IV型OI之间的青春期生长突增时间相似。然而,在OI型中，高度速度始终较高，导致OI型和IV型之间的高度差距扩大。
结论：大多数I型和IV型OI个体出现青春期生长突增，但很少在III型OI中。
