ECEESPE2025 ePoster Presentations Growth Axis and Syndromes (132 abstracts)
Three decades of growth hormone therapy in prader-willi syndrome: insights from belgium
Lore Therssen 1 , Beckers Dominique 2 , Chivu Olimpia 3 , sylvia Depoorter 4 , De Schepper Jean 5 , Hilde Dotrement 6 , Claudine Heinrichs 7 , Lysy Philippe 8 , Anne-Simone Parent 9 , Reynaert Nele 10 , Saskia Van der Straaten 11 , Thomas Muriel 12 & Anne Rochtus 1
1University Hospitals Leuven, University of Leuven, Pediatrics, Leuven, Belgium; 2CHU UCL Namur, Pediatrics, Yvoir, Belgium; 3CHC Montlègia, Pediatrics, Liège, Belgium; 4AZ Sint-Jan, Pediatrics, Bruges, Belgium; 5University Hospital of Brussel, Pediatrics, Brussels, Belgium; 6University Hospital Antwerpen, Pediatrics, Edegem, Belgium; 7Hôpital Universitaire de Bruxelles (H.U.B), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université libre de Bruxelles (ULB), Brussels, Belgium; 8UCLouvain, Pediatrics, Brussels, Belgium; 9CHU Liège, Liège, Belgium; 10Ziekenhuis Oost-Limburg, Pediatrics, Genk, Belgium; 11UZ Gent, Gent, Belgium; 12BELSPEED, Brussels, Belgium
JOINT3305
Background & Aim: Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder characterized by neonatal hypotonia, feeding difficulties, short stature, behavioural problems, and early-onset hyperphagia leading to progressive obesity. Early diagnosis and a multidisciplinary approach are crucial for managing all these features. This study provides a detailed characterization of the Belgian PWS cohort and evaluates the effectiveness of recombinant human growth hormone (rhGH) therapy.
Patients & Methods: Clinical and auxological data were retrieved from BELGROW, a national database of rhGH-treated patients maintained by BELSPEED (Belux Society for Pediatric Endocrinology and Diabetology), from 1986 until 2021. Baseline characteristics and rhGH treatment outcomes were assessed, including changes in height standard deviation (SD) scores (HSDS).
Results: A total of 123 patients with PWS (50% male) were analysed. Most patients (115/123) were included after 2001. The most common genotype was paternal deletion (53%), followed by maternal uniparental disomy (mUPD) (35%), imprinting disorder (5%), and atypical deletion or translocation (3%). Preterm birth was reported in 21%, and 23% met the criteria for small for gestational age (SGA). Reduced fetal movements were noticed in 79% of pregnancies, and all patients exhibited neonatal hypotonia. Obesity (BMI > 2 SD) was observed in 53%. All patients received rhGH, with the youngest starting at 4.8 months. The median (Q1:Q3) age at therapy initiation was 3.57 years (1.11; 6.54), with a median dose of 0.031 mg/kg/day (0.026:0.035). After two years, HSDS increased by +1.3 SD. Mean weight increased by +0.9 SD, but body mass index (BMI) remained stable (Δ 0.1 SD). Scoliosis was reported in 17% at therapy onset. A subgroup of 52 patients was followed until therapy cessation at a mean age of 15.2 years (12.9–17.5). In this group, rhGH therapy began at a mean age of 7.35 years (4.44–10.69). HSDS improved from -2.2 (-3.1 to -1.1) at initiation to -1.23 (-1.19 to -1.15) at cessation. In addition to multidisciplinary care, patients who started treatment before age 6 (n = 22) showed a trend toward a more favorable BMI outcome, with an average SDS decrease of -0.38, compared to a negligible change (+0.02) in those who started later (P = 0.19). Patients with a deletion were less frequently obese than those with mUPD.
Conclusions: These findings highlight the effectiveness of rhGH therapy in real-world clinical settings for patients with PWS. Treatment significantly improves height and helps maintain BMI stability, reinforcing the importance of early intervention and long-term management in this population.
Volume 110
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2025 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more