Initial Observations on Developmental Treatment In Pediatric Cases with A Rare Genetic Condition

Sažetak

Prader-Willi syndrome (PWS) represents the leading genetic cause of early-onset severe obesity and results from the absence of gene expression in a specific region of the paternal chromosome 15 (15q11.2–q13). Clinical manifestations commonly include insatiable appetite, excessive weight gain, short stature, delayed psychomotor development, and progressive behavioral challenges. A primary management strategy involves administration of recombinant human growth hormone (rhGH), alongside stringent dietary control.

This report presents outcomes in four pediatric individuals with confirmed PWS, who received rhGH treatment for a period exceeding two years at dosages up to 1 mg/m²/day. Monitoring focused on body height, BMI, glucose and lipid profiles, and the emergence of potential side effects. An improvement in height standard deviation scores (SDS) was observed throughout therapy, reaching values consistent with normal growth expectations in the general pediatric population after the treatment period. While BMI SDS initially decreased in the first year, a subsequent increase was noted, yet remained more favorable when compared to typical values in untreated age- and sex-matched PWS populations.

No adverse effects were identified regarding metabolic parameters or overall safety. The combined approach of individualized dietary planning and hormone therapy promoted acceptable growth trajectories while minimizing obesity risk, and without metabolic complications. This management strategy supports smoother progression into adult healthcare systems, where comprehensive, multidisciplinary care should remain a cornerstone of ongoing support.