Polyethylene glycol recombinant human somatropin(Changchun Genescience)

This study evaluates the efficacy and safety of optimized PEG-rhGH dosing in pre-pubertal and pubertal children with Childhood-Onset Growth Failure due to growth hormone deficiency (GHD) or non-GHD causes.

This study employed a combined retrospective (n = 144) and prospective (n = 14) design to examine the PEG-rhGH dosing strategies' impact. A total of 158 children were enrolled in the study, of whom 130 were included in the analysis after completing a minimum of one year of follow-up. Participants were stratified into pre-pubertal and pubertal groups. PEG-rhGH therapy with dose titration was administered based on growth response and IGF-1 level. The primary goal of the study was to evaluate the effect of individualized PEG-rhGH dosing, including clinically-based target height velocity and IGF-1 titration, on height velocity in children with GHD and non-GHD small children, stratified by puberty. Outcome measures included change in height, weight, BMI, and adverse events. Data were analyzed with SPSS 25.0.

Pre-pubertal children exhibited a significantly greater height increase compared to pubertal adolescents (9.75 cm vs. 9.01 cm, p = 0.0159). A dose-dependent effect on growth velocity was observed in both groups. In the pubertal group, growth velocity (GV) increased from 0.80 ± 0.20 cm/year at doses ≤0.200 mg/kg/week to 0.99 ± 0.38 cm/year at doses ≥0.220 mg/kg/week (p = 0.017). Similarly, in the pre-pubertal group, GV increased from 0.87 ± 0.23 cm/year at the lowest dose to 1.10 ± 0.24 cm/year at the highest dose (p = 0.048). These findings confirm a dose-response relationship, particularly at doses exceeding 0.200 mg/kg/week.

PEG-rhGH therapy was more effective in promoting height growth in pre-pubertal children compared to pubertal adolescents. A clear dose-dependent effect was observed in both groups, emphasizing the importance of individualized dosing for optimal growth outcomes.

Chitayat syndrome (CHYTS) is an autosomal dominant disorder caused by variants in the ETS2 repressor factor (ERF) gene, located on 19q13.2. This gene encodes the ERF protein. The syndrome is extremely rare, with only 13 patients reported to date. We present a patient of CHYTS resulting from a c.1201_1202del (p.Lys401Glufs∗10) frameshift variant in the ERF (NM_001429.3) gene. The patient, a 10-year-old girl, exhibited typical features of the syndrome such as short stature, facial dysmorphism, and early developmental delay. She was treated with recombinant human growth hormone for ∼5 years due to her short stature. During treatment, no complications such as increased intracranial pressure, hypothyroidism, or pancreatic dysfunction were noted. However, the growth response was suboptimal, with a total height increase of 25.4 cm. This patient provides valuable insights into the clinical manifestations and treatment outcomes associated with ERF(NM_001429.3) gene variants, contributing to the existing knowledge and potentially aiding clinicians in understanding similar patients.