| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Endocrine Connections, Vol 12, Iss 7, Pp 1-10 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2049-3614 |
| DOI: |
10.1530/EC-22-0402 |
| Popis: |
Objective: This Italian survey aims to evaluate real-life long-term efficac y and safety of recombinant human growth hormone (rhGH) therapy in children wit h short stature homeobox-containing gene deficiency disorders (SHOX-D) and to id entify potential predictive factors influencing response to rhGH therapy. Design and methods: This is a national retrospective observational study collectin g anamnestic, anthropometric, clinical, instrumental and therapeutic data in children and adolescents with a genetic confirmation of SHOX-D treated on rhG H. 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 availab le. Results: 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) SD S 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) a nd ones with regulatory region defects (group B) experienced a similar beneficial therap eutic effect. The multiple regression analysis identified the age at the start of rhGH trea tment (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 thera py, no adverse event of concern was reported. Conclusions: Our data confirm the efficacy and safety of rhGH therapy in SHOX- D children, regardless the wide variety of genotype. Significance Statement: Among children with idiopathic short stature, the prevalence o f 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-te rm 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 the rapy seems to blunt the SHOX-D phenotype. The response to rhGH in the first year of trea tment and the age when rhGH was started significantly impact the height gain. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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