{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T06:35:35Z","timestamp":1756190135372,"version":"3.40.5"},"reference-count":15,"publisher":"Ordem dos Medicos","issue":"2","license":[{"start":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T00:00:00Z","timestamp":1658707200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Med Port"],"abstract":"<jats:p>Introduction: 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.Material and Methods: 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\u00ae v13.0.Results: 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 \u22122.71, 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 vs 51 kg\/m2, p &lt; 0.042) near-adult height.Conclusion: 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.<\/jats:p>","DOI":"10.20344\/amp.17559","type":"journal-article","created":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T13:59:03Z","timestamp":1658757543000},"page":"88-95","source":"Crossref","is-referenced-by-count":1,"title":["A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syndrome in Portugal"],"prefix":"10.20344","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1095-0734","authenticated-orcid":false,"given":"Madalena","family":"Meira Nisa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3021-2843","authenticated-orcid":false,"given":"Miguel","family":"Vieira Martins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1618-1497","authenticated-orcid":false,"given":"B\u00e1rbara","family":"Barroso de Matos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana","family":"Sim\u00f5es Monteiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3772-1509","authenticated-orcid":false,"given":"Catarina","family":"Marques Duarte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Br\u00edgida","family":"Robalo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3026-9820","authenticated-orcid":false,"given":"Lurdes","family":"Sampaio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"8464","published-online":{"date-parts":[[2022,7,25]]},"reference":[{"key":"1992","doi-asserted-by":"crossref","unstructured":"Grugni G, Sartorio A, Crin\u00f2 A. Growth hormone therapy for Prader-Willi syndrome: challenges and solutions. Ther Clin Risk Manag. 2016;12:873-81.","DOI":"10.2147\/TCRM.S70068"},{"key":"1993","doi-asserted-by":"crossref","unstructured":"Aycan Z, Ba\u015f VN. Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol. 2014;6:62-7.","DOI":"10.4274\/jcrpe.1228"},{"key":"1994","doi-asserted-by":"crossref","unstructured":"Angulo M, Abuzzahab MJ, Pietropoli A, Ostrow V, Kelepouris N, Tauber M. Outcomes in children treated with growth hormone for Prader-Willi syndrome: data from the ANSWER Program\u00ae and NordiNet\u00ae International Outcome Study. Int J Pediatr Endocrinol. 2020;2020:20.","DOI":"10.1186\/s13633-020-00090-6"},{"key":"1995","doi-asserted-by":"crossref","unstructured":"Bridges N. What is the value of growth hormone therapy in Prader-Willi syndrome? 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Acta Pediatr Port. 2010;41:30-2."},{"key":"2003","doi-asserted-by":"crossref","unstructured":"Tauber M, Hoybye C. Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction. Lancet Diabetes Endocrinol. 2021;9:235-46.","DOI":"10.1016\/S2213-8587(21)00002-4"},{"key":"2004","doi-asserted-by":"crossref","unstructured":"Sedky K, Bennett DS, Pumariega A. Prader Willi syndrome and obstructive sleep apnea: co-occurrence in the pediatric population. J Clin Sleep Med. 2014;10:403-9.","DOI":"10.5664\/jcsm.3616"},{"key":"2005","doi-asserted-by":"crossref","unstructured":"Burman P, Ritz\u00e9n EM, Lindgren AC. Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr Rev. 2001;22:787-99.","DOI":"10.1210\/edrv.22.6.0447"},{"key":"2006","doi-asserted-by":"crossref","unstructured":"Muscogiuri G, Barrea L, Faggiano F, Maiorino MI, Parrillo M, Pugliese G, et al. Obesity in Prader\u2013Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches. 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