医学
身材矮小
特发性矮身高
儿科
不利影响
内科学
生长速度
生长激素
激素
作者
Patrizia Bruzzi,Silvia Vannelli,Emanuela Scarano,Natascia Di Iorgi,Maria Parpagnoli,Mariacarolina Salerno,Marco Pitea,Maria Elisabeth Street,Andrea Secco,Adolfo Andrea Trettene,Malgorzata Wasniewska,Nicola Corciulo,Gianluca Tornese,Maria Felicia Faienza,Maurizio Delvecchio,Simona Filomena Madeo,Lorenzo Iughetti
摘要
This Italian survey aims to evaluate real-life long-term efficacy and safety of 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.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, T4) and at near-final height (nFH) (T5), when available.117 SHOX-D children started rhGH therapy (initial dose 0.23 ± 0.04 mg/kg/week) at a mean age of 8.67 ± 3.33years (74% prepubertal), 99 completed the 1st year of treatment, and 46 reached nFH. During rhGH therapy, growth velocity (GV) 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.Our data confirm the efficacy and safety of rhGH therapy in SHOX-D children, regardless the wide variety of genotype.
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