rhGh therapy appears safe, effective over long-term in children with SHOX-D
Recombinant human growth hormone (rhGH) therapy appears to be safe and effective in children with short stature homeobox-containing gene deficiency disorders (SHOX-D) regardless of the wide variety of genotypes, according to results of a real-life long-term study.
In this national retrospective observational study, data were collected from 117 children (mean age of 8.67 ± 3.33years) with SHOX-D starting rhGH therapy (initial dose 0.23 ± 0.04 mg/kg/week), yearly during the first 4 years of rhGH therapy (T1, T2, T3, T4), and at near-final height (nFH) (T5), when available.
Of the 117 who started therapy, 99 completed the 1st year of treatment, with 46 reaching nFH. Growth velocity (GV) SDS and height (H) SDS improved significantly while on rhGH therapy. Mean H SDS gain from T0 was +1.14±0.58 at T4 and +0.80 ± 0.98 at T5.
The beneficial therapeutic effect was similar between patients with mutations involving intragenic SHOX region and those with regulatory region defects.
Age at the start of rhGH treatment and the first year GV were the main independent predictor factors of height gain.
No adverse event events were reported during treatment.
Reference
Bruzzi P, Vannelli S, Scarano E, et al. Real life long-term efficacy and safety of rhGH therapy in children with SHOX deficiency. Endocr Connect. 2023;EC-22-0402. doi: 10.1530/EC-22-0402. Epub ahead of print. PMID: 37014306.
