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.

Downloads

Download data is not yet available.

References

Grugni G, Sartorio A, Crinò A. Growth hormone therapy for Prader-Willi syndrome: challenges and solutions. Ther Clin Risk Manag. 2016;12:873-81.

Aycan Z, Baş VN. Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol. 2014;6:62-7.

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® and NordiNet® International Outcome Study. Int J Pediatr Endocrinol. 2020;2020:20.

Bridges N. What is the value of growth hormone therapy in Prader-Willi syndrome? Arch Dis Child. 2014;99:166-70.

Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS. Growth hormone research society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. J Clin Endocrinol Metab. 2013;98:E1072-87.

Butler MG, Miller JL, Forster JL. Prader-Willi syndrome - clinical genetics, diagnosis and treatment approaches: an update. Curr Pediatr Rev. 2019;15:207-44.

Fenton TR, Kim JH. A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants. BMC Pediatr. 2013;13:59.

WHO Multicentre Growth Reference Study Group. WHO Child Growth Standards based on length/height, weight and age. Acta Paediatr Suppl. 2006;450:76-85.

Burt VL, Harris T. The third National Health and Nutrition ExaminationSurvey: contributing data on aging and health. Gerontologist. 1994;34:486-90.

Singh P, Mahmoud R, Gold JA, Miller J, Roof E, Tamura R, et al. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. J Med Genet. 2018;55:594-8.

Bexiga V. Diagnóstico neonatal de síndrome de Prader-Willi. Acta Pediatr Port. 2010;41:30-2.

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.

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.

Burman P, Ritzén EM, Lindgren AC. Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr Rev. 2001;22:787-99.

Muscogiuri G, Barrea L, Faggiano F, Maiorino MI, Parrillo M, Pugliese G, et al. Obesity in Prader–Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches. J Endocrinol Invest. 2021;44:2057-70.

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 2024 Oct. 12];36(2):88-95. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/17559

Issue

Section

Original