A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syndrome in Portugal

Authors

  • Madalena Meira Nisa Serviço de Pediatria. Centro Hospitalar Tondela-Viseu. Viseu. Unidade de Endocrinologia Pediátrica. Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. https://orcid.org/0000-0002-1095-0734
  • Miguel Vieira Martins Unidade de Endocrinologia Pediátrica. Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. Serviço de Pediatria. Centro Hospitalar Universitário Cova da Beira. Covilhã. https://orcid.org/0000-0002-3021-2843
  • Bárbara Barroso de Matos Unidade de Endocrinologia Pediátrica. Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. Serviço de Pediatria. Centro Hospitalar do Médio Tejo. Torres Novas. https://orcid.org/0000-0002-1618-1497
  • Joana Simões Monteiro Unidade de Endocrinologia Pediátrica. Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. Serviço de Pediatria. Hospital José Joaquim Fernandes. Unidade Local de Saúde do Baixo Alentejo. Beja.
  • Catarina Marques Duarte Unidade de Endocrinologia Pediátrica. Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. https://orcid.org/0000-0003-3772-1509
  • Brígida Robalo Unidade de Endocrinologia Pediátrica. Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. Clínica Universitária de Pediatria. Faculdade de Medicina. Universidade de Lisboa. Lisboa.
  • Carla Pereira Unidade de Endocrinologia Pediátrica. Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. Clínica Universitária de Pediatria. Faculdade de Medicina. Universidade de Lisboa. Lisboa.
  • Lurdes Sampaio Unidade de Endocrinologia Pediátrica. Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. Clínica Universitária de Pediatria. Faculdade de Medicina. Universidade de Lisboa. Lisboa. https://orcid.org/0000-0003-3026-9820

DOI:

https://doi.org/10.20344/amp.17559

Keywords:

Child, Human Growth Hormone/therapeutic use, Portugal, Prader-Willi Syndrome/drug therapy

Abstract

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® 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 −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 vs 51 kg/m2, p < 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.

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Published

2022-07-25

How to Cite

1.
Meira Nisa M, Vieira Martins M, Barroso de Matos B, Simões Monteiro J, Marques Duarte C, Robalo B, Pereira C, Sampaio L. A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syndrome in Portugal. Acta Med Port [Internet]. 2022 Jul. 25 [cited 2022 Dec. 1];. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/17559

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Original