TY - JOUR AU - Meira Nisa, Madalena AU - Vieira Martins, Miguel AU - Barroso de Matos, Bárbara AU - Simões Monteiro, Joana AU - Marques Duarte, Catarina AU - Robalo, Brígida AU - Pereira, Carla AU - Sampaio, Lurdes PY - 2022/07/25 Y2 - 2024/03/28 TI - A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syndrome in Portugal JF - Acta Médica Portuguesa JA - Acta Med Port VL - 36 IS - 2 SE - Original DO - 10.20344/amp.17559 UR - https://actamedicaportuguesa.com/revista/index.php/amp/article/view/17559 SP - 88-95 AB - <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> &lt; 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> ER -