ECEESPE2025 ePoster Presentations Growth Axis and Syndromes (132 abstracts)
1University Hospital, Nefissa Hamoud, Paediatric Unit, Medical University, Algiers, Algeria
JOINT2430
Introduction: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder resulting from the loss of expression of paternally inherited, imprinted genes on chromosome 15q11.2q13.1. It is characterized by cognitive, behavioral, and endocrine abnormalities, including hypotonia, hyperphagia, obesity, short stature, and growth hormone (GH) deficiency. The estimated birth prevalence of PWS ranges between 1 in 15,000 to 1 in 25,000 live births.
Objective: This study aims to evaluate the effects of GH therapy on BMI and stature in Algerian children with PWS by comparing outcomes between GH-treated and untreated patients. We present a multicentric cohort of 46 children aged 0 to 16 years, providing the first Algerian data on auxological and metabolic outcomes in PWS.
Methods: This is a retrospective, multicenter study conducted across six Algerian hospitals (outpatient clinics) over 17 years (20072024). Data were collected from a national database, including medical records and endocrine profiles of children and adolescents diagnosed with PWS.
Results: The median age at diagnosis was 5.1 years (range: 014 years), with 7 patients (17.2%) diagnosed in the neonatal period. During the study period, three deaths (6.52%) were recorded, including two cases (4.34%) related to morbid obesity. At the most recent follow-up (median age: 6.1 years; range: 116 years), Median BMI was 23.48 ± 9.51 kg/m² (range: 1156 kg/m²). 65% of patients were overweight or obese, including 13% with morbid obesity (BMI > 40 kg/m²). Glucose intolerance was detected in 4.34% of patients, and two cases (4.34%) developed type 2 diabetes. Growth hormone deficiency was diagnosed in 42 patients (93%), but only 11 patients (24.4%) received GH therapy. After one year of GH treatment, GH-treated patients showed a significant increase in height SDS (+1 SD height gain) compared to the untreated group (p < 0.05). GH-treated patients also exhibited a BMI reduction to 20.49 kg/m², whereas untreated patients experienced a progressive increase in BMI
Conclusion: GH therapy in children with PWS significantly improves height growth and helps regulate BMI, demonstrating a positive impact on growth and body composition. These findings emphasize the importance of early GH therapy initiation to optimize stature and reduce the risk of obesity-related complications in PWS patients. However, long-term studies are needed to further assess its metabolic benefits and potential risks.