Journal of mucopolysaccharidosis and rare diseases

Association for Research of MPS and Rare Diseases (뮤코다당증연구학회)
권호 표지
DOI QR코드

DOI QR Code

Beneficial Effects of Growth Hormone Treatment in Prader-Willi Syndrome

  • Kim, Jinsup (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Yang, Aram (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2017.12.05
  • Accepted : 2017.12.10
  • Published : 2017.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

Prader-Willi syndrome (PWS) is a genetic disorder that is considered, especially on child, to cause poor feeding, hypotonia, failure to thrive, developmental delay and hypogonadism which is known to affect between 1 in 10,000 and 30,000 people. The children with PWS are viewed as affected by growth hormone (GH) insufficiency, although the exact mechanisms of GH deficiency are not fully understood. However, the benefits of GH treatment in children with PWS are well established. Myers, et al. (2006), Grugni, et al. (2016) indicated its positive effects on linear growth, body composition, motor function, respiratory function and psychomotor development. Despite of its effectiveness and advantages had been well known and proven in many other studies, there is only one recombinant GH product that is approved for PWS in Korea, $Genotropin^{(R)}$, till now. A phase III clinical study of GH treatment with $Eutropin^{TM}$, in 34 Korean PWS children is in progress, which is expected to have comparable effects and safety profile with the active control by assessing auxological changes such as height standard deviation score, body composition changes such as lean body mass and percent body fat, motor and cognitive development using Bayley scale, and safety profiles.

Keywords

References

  1. Prader ALA, Willi H. Ein syndrom von adipositas, kleinwuchs, kryptorchismus und ologophrenie nach myotonicartigem zustand in neurogeborenalter. Schweiz Med Wochenschr 1956;86:1260-61.
  2. Glenn CC, Driscoll DJ, Yang TP, Nicholls RD. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. Mol Hum Reprod 1997;3:321-32. https://doi.org/10.1093/molehr/3.4.321
  3. Cassidy SB, Dykens E, Williams CA. Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 2000;97:136-46. https://doi.org/10.1002/1096-8628(200022)97:2<136::AID-AJMG5>3.0.CO;2-V
  4. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012;14:10-26. https://doi.org/10.1038/gim.0b013e31822bead0
  5. Deal CL, Tony M, Hoybye C, Allen DB, Tauber M, Christiansen JS. GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. J Clin Endocrinol Metab 2013;98:E1072-87. https://doi.org/10.1210/jc.2012-3888
  6. Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A 2011;155A:1040-9.
  7. Yu J. Endocrine disorders and the neurologic manifestations. Ann Pediatr Endocrinol Metab 2014;19:184-90. https://doi.org/10.6065/apem.2014.19.4.184
  8. Diene G, Mimoun E, Feigerlova E, Caula S, Molinas C, Grandjean H, et al. Endocrine disorders in children with Prader-Willi syndrome--data from 142 children of the French database. Horm Res Paediatr 2010;74:121-8. https://doi.org/10.1159/000313377
  9. Craig ME, Cowell CT, Larsson P, Zipf WB, Reiter EO, Albertsson Wikland K, et al. Growth hormone treatment and adverse events in Prader–Willi syndrome: data from KIGS (the Pfizer International Growth Database). Clinical Endocrinology 2006;65:178-85. https://doi.org/10.1111/j.1365-2265.2006.02570.x
  10. Angulo M, Castro-Magana M, Mazur B, Canas JA, Vitollo PM, Sarrantonio M. Growth hormone secretion and effects of growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome. J Pediatr Endocrinol Metab 1996;9:393-400.
  11. Orsso CE, Mackenzie M, Alberga AS, Sharma AM, Richer L, Rubin DA, et al. The use of magnetic resonance imaging to characterize abnormal body composition phenotypes in youth with Prader-Willi syndrome. Metabolism 2017;69:67-75. https://doi.org/10.1016/j.metabol.2017.01.020
  12. Emerick JE, Vogt KS. Endocrine manifestations and management of Prader-Willi syndrome. Int J Pediatr Endocrinol 2013;2013:14. https://doi.org/10.1186/1687-9856-2013-14
  13. Carrel AL, Myers SE, Whitman BY, Allen DB. Growth hormone improves body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome:A controlled study. J Pediatr 1999;134:215-21. https://doi.org/10.1016/S0022-3476(99)70418-X
  14. Myers SE, Whitman BY, Carrel AL, Moerchen V, Bekx MT, Allen DB. Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits. Am J Med Genet A 2007;143A:443-8. https://doi.org/10.1002/ajmg.a.31468
  15. Angulo MA, Castro-Magana M, Lamerson M, Arguello R, Accacha S, Khan A. Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment. Am J Med Genet A 2007;143A:1456-61. https://doi.org/10.1002/ajmg.a.31824
  16. Jin DK. Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment. Korean J Pediatr 2012;55:224-31. https://doi.org/10.3345/kjp.2012.55.7.224
  17. Wolfgram PM, Carrel AL, Allen DB. Long-term effects of recombinant human growth hormone therapy in children with Prader-Willi syndrome. Curr Opin Pediatr 2013;25:509-14. https://doi.org/10.1097/MOP.0b013e328362c7a2
  18. Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Troeman ZC, van Alfen-van der Velden AA, Otten BJ, et al. Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study. J Clin Endocrinol Metab 2012;97:2307-14. https://doi.org/10.1210/jc.2012-1182
  19. Reus L, Pelzer BJ, Otten BJ, Siemensma EP, van Alfen-van der Velden JA, Festen DA, et al. Growth hormone combined with child-specific motor training improves motor development in infants with Prader-Willi syndrome: a randomized controlled trial. Res Dev Disabil 2013;34:3092-103. https://doi.org/10.1016/j.ridd.2013.05.043
  20. Bohm B, Ritzen EM, Lindgren AC. Growth hormone treatment improves vitality and behavioural issues in children with Prader-Willi syndrome. Acta Paediatr 2015;104:59-67. https://doi.org/10.1111/apa.12813
  21. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008;93:4183-97. https://doi.org/10.1210/jc.2008-0649
  22. Lindgren AC, Lindberg A. Growth hormone treatment completely normalizes adult height and improves body composition in Prader-Willi syndrome: experience from KIGS (Pfizer International Growth Database). Horm Res 2008;70:182-7. https://doi.org/10.1159/000145019
  23. Bakker NE, Kuppens RJ, Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Bindels-de Heus GC, et al. Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects. J Clin Endocrinol Metab 2013;98:4013-22. https://doi.org/10.1210/jc.2013-2012
  24. Bakker NE, Siemensma EP, Koopman C, Hokken-Koelega AC. Dietary energy intake, body composition and resting energy expenditure in prepubertal children with Prader- Willi syndrome before and during growth hormone treatment: a randomized controlled trial. Horm Res Paediatr 2015;83:321-31. https://doi.org/10.1159/000374113
  25. Grugni G, Marzullo P. Diagnosis and treatment of GH deficiency in Prader-Willi syndrome. Best Pract Res Clin Endocrinol Metab 2016;30:785-94. https://doi.org/10.1016/j.beem.2016.11.003
  26. Kim SJ, Cho JB, Kwak MJ, Kwon EK, Paik KH, Jin DK. Effects and adverse-effects of growth hormone therapy in children with Prader-Willi syndrome: a two year study. Korean J Pediatr 2008;51:742-6. https://doi.org/10.3345/kjp.2008.51.7.742
  27. Kim YJ, Cheon CK. Prader-Willi syndrome: a single center's experience in Korea. Korean J Pediatr 2014;57:310-6. https://doi.org/10.3345/kjp.2014.57.7.310
  28. Mogul HR, Lee PD, Whitman BY, Zipf WB, Frey M, Myers S, et al. Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial. J Clin Endocrinol Metab 2008;93:1238-45. https://doi.org/10.1210/jc.2007-2212