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.
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。