@article{Meira Nisa_Vieira Martins_Barroso de Matos_Simões Monteiro_Marques Duarte_Robalo_Pereira_Sampaio_2022, place={Lisbon, Portugal}, title={A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syndrome in Portugal}, volume={36}, url={https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/17559}, DOI={10.20344/amp.17559}, abstractNote={<p><strong>Introduction:</strong> Prader-Willi syndrome is a multisystemic genetic disorder associated with shorter adult height. Nowadays, all paediatric Prader-Willi syndrome patients are considered for growth hormone treatment. We present the experience of this treatment at a Portuguese paediatric endocrinology unit and intend to emphasise the importance of creating a follow-up national network of these patients.<br /><strong>Material and Methods:</strong> Longitudinal, retrospective, analytical study of Prader-Willis syndrome patients using data between 1989 and 2021. Growth hormone therapy was offered to eligible patients. The analysis included all Prader-Willis syndrome patients, with a comparison between treated and untreated patients; a longitudinal analysis of patients receiving growth hormone therapy (baseline, 12 and 36 months of follow-up) was also carried out. The statistical analysis was carried out using STATA® v13.0.<br /><strong>Results:</strong> Out of 38 patients with Prader-William syndrome, 61% were male. The median age at diagnosis was four months and 61% received growth hormone therapy. The patients who reached adulthood, or 18 years old, had a median near-adult height, Z-score of −2.71, and their median body mass index indicated class 2 obesity, regardless of growth hormone therapy. Patients had a lower body mass index in the growth hormone group (35 <em>vs</em> 51 kg/m2, <em>p</em> < 0.042) near-adult height.<br /><strong>Conclusion:</strong> This case series represents the first national study that included patients on growth hormone therapy after the National Health Service started supporting the treatment for Prader-Willi syndrome patients and supports its use, reinforcing the positive effects on growth and body mass index. Longer follow-up studies are needed to analyse the effect of growth hormone on patient metabolic profiling, body composition and cognitive level.</p>}, number={2}, journal={Acta Médica Portuguesa}, author={Meira Nisa, Madalena and Vieira Martins, Miguel and Barroso de Matos, Bárbara and Simões Monteiro, Joana and Marques Duarte, Catarina and Robalo, Brígida and Pereira, Carla and Sampaio, Lurdes}, year={2022}, month={Jul.}, pages={88–95} }