Prader-Willi syndrome (PWS) is a rare, multisystemic genetic disorder involving a lack of expression of the paternally inherited genes in the 15q11-q13 region. Clinically, it is characterized by hypotonia, failure to thrive in infancy, subsequent hyperphagia, morbid obesity, hypogonadism, and intellectual disability. Growth hormone (GH) deficiency is also common, prompting the use of recombinant human GH (rhGH) therapy as a key intervention. Aim of the Study This research investigates the impact of rhGH therapy on growth parameters, body composition, and metabolic profiles in pediatric patients with genetically confirmed PWS. Materials and Methods A retrospective observational descriptive study was conducted between 2023 and 2025 at the Regional Center for Medical Genetics Iași, in collaboration with the Endocrinology Clinic at “Sf. Spiridon” Emergency County Hospital Iași. Patients aged 1 month to 19 years were enrolled based on clinical and molecular confirmation (DNA methylation analysis and MLPA). Anthropometric data (height, weight, body mass index), biochemical parameters (lipid profile, IGF-1, thyroid function), and clinical findings were collected. Statistical analyses were
📖 افتح في inklap 🔗 DOI 📮 اطلب بحثاً