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Abstract：
UNASSIGNED: This Italian survey aims to evaluate real-life long-term efficacy and safety of recombinant human growth hormone (rhGH) therapy in children with short stature homeobox-containing gene deficiency disorders (SHOX-D) and to identify potential predictive factors influencing response to rhGH therapy.
UNASSIGNED: This is a national retrospective observational study collecting anamnestic, anthropometric, clinical, instrumental and therapeutic data in children and adolescents with a genetic confirmation of SHOX-D treated on rhGH. Data were collected at the beginning of rhGH therapy (T0), yearly during the first 4 years of rhGH therapy (T1, T2, T3 and T4) and at near-final height (nFH) (T5), when available.
UNASSIGNED: One hundred and seventeen SHOX-D children started rhGH therapy (initial dose 0.23 ± 0.04 mg/kg/week) at a mean age of 8.67 ± 3.33 years (74% prepubertal), 99 completed the first year of treatment and 46 reached nFH. During rhGH therapy, growth velocity (GV), standard deviation score (SDS) and height (H) SDS improved significantly. Mean H SDS gain from T0 was +1.14 ± 0.58 at T4 and +0.80 ± 0.98 at T5. Both patients carrying mutations involving intragenic SHOX region (group A) and ones with regulatory region defects (group B) experienced a similar beneficial therapeutic effect. The multiple regression analysis identified the age at the start of rhGH treatment (β = -0.31, P = 0.030) and the GV during the first year of rhGH treatment (β = 0.45, P = 0.008) as main independent predictor factors of height gain. During rhGH therapy, no adverse event of concern was reported.
UNASSIGNED: Our data confirm the efficacy and safety of rhGH therapy in SHOX-D children, regardless the wide variety of genotype.
UNASSIGNED: Among children with idiopathic short stature, the prevalence of SHOX-D is near to 1/1000-2000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support rhGH therapy in SHOX-D children, but long-term data are still few. Our real-life data confirm the efficacy and safety of rhGH therapy in SHOX-D children, regardless of the wide variety of genotypes. Moreover, rhGH therapy seems to blunt the SHOX-D phenotype. The response to rhGH in the first year of treatment and the age when rhGH was started significantly impact the height gain.
UNASSIGNED: This is a national retrospective observational study collecting anamnestic, anthropometric, clinical, instrumental and therapeutic data in children and adolescents with a genetic confirmation of SHOX-D treated on rhGH. Data were collected at the beginning of rhGH therapy (T0), yearly during the first 4 years of rhGH therapy (T1, T2, T3 and T4) and at near-final height (nFH) (T5), when available.
UNASSIGNED: One hundred and seventeen SHOX-D children started rhGH therapy (initial dose 0.23 ± 0.04 mg/kg/week) at a mean age of 8.67 ± 3.33 years (74% prepubertal), 99 completed the first year of treatment and 46 reached nFH. During rhGH therapy, growth velocity (GV), standard deviation score (SDS) and height (H) SDS improved significantly. Mean H SDS gain from T0 was +1.14 ± 0.58 at T4 and +0.80 ± 0.98 at T5. Both patients carrying mutations involving intragenic SHOX region (group A) and ones with regulatory region defects (group B) experienced a similar beneficial therapeutic effect. The multiple regression analysis identified the age at the start of rhGH treatment (β = -0.31, P = 0.030) and the GV during the first year of rhGH treatment (β = 0.45, P = 0.008) as main independent predictor factors of height gain. During rhGH therapy, no adverse event of concern was reported.
UNASSIGNED: Our data confirm the efficacy and safety of rhGH therapy in SHOX-D children, regardless the wide variety of genotype.
UNASSIGNED: Among children with idiopathic short stature, the prevalence of SHOX-D is near to 1/1000-2000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support rhGH therapy in SHOX-D children, but long-term data are still few. Our real-life data confirm the efficacy and safety of rhGH therapy in SHOX-D children, regardless of the wide variety of genotypes. Moreover, rhGH therapy seems to blunt the SHOX-D phenotype. The response to rhGH in the first year of treatment and the age when rhGH was started significantly impact the height gain.
摘要：
目的：这项意大利调查旨在评估rhGH治疗对身材矮小的同源盒基因缺乏症（SHOX-D）儿童的长期疗效和安全性，并确定影响rhGH治疗反应的潜在预测因素。
方法：这是一项全国性的回顾性观察研究，人体测量学,临床,在rhGH上治疗的SHOX-D的遗传确认的儿童和青少年的仪器和治疗数据。在rhGH治疗开始时（T0）收集数据，每年在rhGH治疗的前4年（T1，T2，T3，T4）和接近最终高度（nFH）（T5），可用时。
结果：117SHOX-D儿童开始rhGH治疗（初始剂量为0.23±0.04mg/kg/周），平均年龄为8.67±3.33岁（青春期前74%），99完成了第一年的治疗，46人到达nFH。在rhGH治疗期间，生长速度(GV)SDS和高度(H)SDS明显提高。从T0开始的平均HSDS增益在T4时为+1.14±0.58，在T5时为+0.80±0.98。携带涉及基因内SHOX区的突变的患者（A组）和具有调节区缺陷的患者（B组）均具有相似的有益治疗效果。多元回归分析确定rhGH治疗开始时的年龄（β-0.31，p=0.030）和rhGH治疗第一年的GV（β0.45，p=0.008）是身高增长的主要独立预测因素。在rhGH治疗期间，未报告关注的不良事件.
结论：我们的数据证实了rhGH治疗对SHOX-D儿童的有效性和安全性，无论基因型种类繁多。
方法：这是一项全国性的回顾性观察研究，人体测量学,临床,在rhGH上治疗的SHOX-D的遗传确认的儿童和青少年的仪器和治疗数据。在rhGH治疗开始时（T0）收集数据，每年在rhGH治疗的前4年（T1，T2，T3，T4）和接近最终高度（nFH）（T5），可用时。
结果：117SHOX-D儿童开始rhGH治疗（初始剂量为0.23±0.04mg/kg/周），平均年龄为8.67±3.33岁（青春期前74%），99完成了第一年的治疗，46人到达nFH。在rhGH治疗期间，生长速度(GV)SDS和高度(H)SDS明显提高。从T0开始的平均HSDS增益在T4时为+1.14±0.58，在T5时为+0.80±0.98。携带涉及基因内SHOX区的突变的患者（A组）和具有调节区缺陷的患者（B组）均具有相似的有益治疗效果。多元回归分析确定rhGH治疗开始时的年龄（β-0.31，p=0.030）和rhGH治疗第一年的GV（β0.45，p=0.008）是身高增长的主要独立预测因素。在rhGH治疗期间，未报告关注的不良事件.
结论：我们的数据证实了rhGH治疗对SHOX-D儿童的有效性和安全性，无论基因型种类繁多。
