35
Views
2
CrossRef citations to date
0
Altmetric
Review

Prader–Willi syndrome and growth hormone treatment in children and adults

, , &
Pages 435-449 | Published online: 10 Jan 2014

References

  • Festen DA, Wevers M, Lindegren AC et al. Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader–Willi syndrome. Clin. Endocrinol. (Oxf.)68, 919–925 (2008).
  • Goldstone AP, Holland AJ, Hauffa BP et al. Recommendations for the diagnosis and management of Prader–Willi syndrome. J. Clin. Endocrinol. Metab.93, 4183–4197 (2008).
  • Holm VA, Cassidy SB, Butler MG et al. Prader Willi syndrome consensus diagnostic criteria. Pediatrics91, 398–402 (1993).
  • de Lind van Wijngaarden RF, Joosten KF, van den Berg S et al. The relationship between central adrenal insufficiency and sleep-related breathing disorders in children with Prader–Willi syndrome. J. Clin. Endocrinol. Metab.94(7), 2387–2393 (2009).
  • Eiholzer U, l’Allemand D, Zipf WB. Prader–Willi Syndrome as a Model of Obesity. S 12 Karger, Basel, Switzerland (2003).
  • Beshya SA, Freemantle C, Thomas E et al. Comparison of measurements of body composition by total body potassium, bioimpedance analysis and dual-energy x-ray absorptiometry in hypopituitary adults before and during growth hormone treatment. Am. J. Clin. Nutr.61, 1186–1194 (1995).
  • Angulo M, Castro-Magana M, Uly J. Pituitary evaluation and growth hormone treatment in Prader–Willi syndrome. J. Pediatr. Endocrin.3, 167–173 (1991).
  • Burman P, Ritzèn EM, Lindgren AC. Endocrine dysfunction in Prader–Willi syndrome: a review with special reference to GH. Endocr. Rev.22, 787–799 (2001).
  • Grugni G, Guzzaloni G, Morabito F. Impairment of GH responsiveness to GH-releasing hexapeptide (GHRP-6) in Prader–Willi syndrome. J. Endocrinol. Invest.24, 340–348 (2001).
  • Catzeflis C, Pierroz DD, Rohner-Jeanrenaud F et al. Neuropeptide Y administered chronically into the lateral ventricle profoundly inhibits both the gonadotropic and the somatotropic axis in intact adult female rats. Endocrinology132, 224–234 (1993).
  • Swaab DF. Neuropeptides in hypothalamic neuronal disorders. Int. Rev. Cytol.240, 305–375 (2004).
  • Cummings DE, Clement K, Purnell JQ et al. Elevated plasma ghrelin levels in Prader–Willi syndrome. Nat. Med.8, 643–644 (2002).
  • Delparigi A, Tschop M, Heiman ML et al. High circulating ghrelin: a potential cause for hyperphagia and obesity in Prader–Willi syndrome. J. Clin. Endocrinol. Metab.87, 5461–5464 (2002).
  • Haqq AM, Purnell JQ, Rosenfeld RG et al. Serum ghrelin levels are markedly increased in children with Prader–Willi syndrome (PWS). Abstracts from the 84th Annual Meeting Endocrine Society. San Francisco, CA, USA, OR23–OR26, 19–22 June (2002).
  • Swaab DF, Purba JS, Hofman MA. Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurones (putative satiety cells) in Prader–Willi syndrome. A study of five cases. J. Clin. Endocrinol. Metab.80, 573–579 (1995).
  • Miller L, Angulo M, Price D et al. MR of the pituitary in patients with Prader–Willi syndrome: size determinations and imaging findings. Pediatr. Radiol.26, 43–47 (1996).
  • Schmidt H, Bechtold S, Schwarz HP Prader–Labhart–Willi syndrome: auxological response to a conventional dose of growth hormone in patients with classical growth hormone deficiency. Eur. J. Med. Res.5, 307–310 (2000).
  • Iughetti L, Bosio L, Corrias A et al. Pituitary height and neuroradiological alterations 1 in patients with Prader–Labhart–Willi syndrome. Eur. J. Pediatr.167, 701–702l (2008).
  • Costeff H, Holm VA, Ruvalcaba R et al. Growth hormone secretion in Prader–Willi syndrome. Acta Paediatr. Scand.79, 1059–1062 (1990).
  • Wollmann HA, Schultz U, Grauer ML et al. Ranke MB reference values for height and weight in Prader–Willi syndrome based on 315 patients. Eur. J. Pediatr.157, 634–642 (1998).
  • Rosenbaum M, Gerner J, Leibel R. Effects of systemic (GH) administration on regional adipose tissue distribution in GH deficient children. J. Clin. Endocrinol. Metab.69, 1274–1281 (1989).
  • Vignolo M, Naselli A, Di Battista E et al. Growth and development in simple obesity. Eur. J. Pediatr.147, 242–244 (1988).
  • Vanderschueren-Lodeweycks M. The effect of simple obesity on growth and growth hormone. Horm. Res.40, 23–30 (1993).
  • Hauffa BP, Schlippe G, Roos M et al. Spontaneous growth in German children and adolescents with genetically confirmed Prader–Willi syndrome. Acta Paediatr.89, 1302–1311 (2000).
  • Ghigo E, Mazza E, Corrias A et al. Effect of cholinergic enhancement by pyridostigmine on growth hormone secretion in obese adults and children. Metabolism38, 631–633 (1989).
  • Beccaria L, Benzi F, Sanzari A et al. Impairment of GH responsiveness to GH releasing hormone and pyridostigmine in patients affected with Prader–Labhardt–Willi syndrome. J. Endocrinol. Invest.19, 687–692 (1996).
  • Park MJ, Kim HS, Kang JH et al. Serum levels of insulin-like growth factor (IGF)-I, free IGF-I, IGF binding protein (IGFBP)-I, IGFBP-3 and insulin in obese children. J. Pediatr. Endocrinol. Metab.12, 139–144 (1999).
  • Corrias A, Bellone J, Beccaria L et al. GH/IGF-I axis in Prader–Willi syndrome: evaluation of IGF-I levels and of the somatotroph responsiveness to various provocative stimuli. Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology. J. Endocrinol. Invest.23, 84–89 (2000).
  • Grugni G, Crinò A, Bertocco P et al. Body fat excess and stimulated qrowth hormone levels in adult patients with Prader–Willi sindrome. Am. J. Med. Genet. A149, 726–731 (2009).
  • Lee PD, Allen DB, Angulo MA et al. Consensus statement – Prader–Willi syndrome: growth hormone (GH)/insulin-like growth factor axis deficiency and GH treatment. Endocrinologist10, 71S–73S (2000).
  • Carrel AL, Myers SE, Whitman BY et al. Benefits of long-term GH therapy in Prader–Willi syndrome: a 4-year study. J. Clin. Endo. Metab.87, 1581–1585 (2002).
  • Haqq AM, Stadler DD, Jackson RH et al. Effects of growth hormone 1 on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader–Willi syndrome. J. Clin. Endo. Metab.88, 2206–2212 (2003).
  • Festen DAM, de Weerd AW, van den Bossche RAS et al. Sleep-Related breathing disorders in 5 prepubertal children with Prader–Willi Syndrome and effects of growth hormone treatment. J. Clin. Endocrinol. Metab.91, 4911–4915 (2006).
  • Angulo MA, Castro-Magana M, Lamerson M et al. A Final adult height in children with Prader–Willi syndrome with and without human growth hormone treatment. Am. J. Med. Genet. A143, 1456–1461 (2007).
  • 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.70(3), 182–187 (2008).
  • Lindgren AC, Hagenäs L, Muller J et al. Growth hormone treatment of children with Prader–Willi syndrome affects linear growth and body composition favourably. Acta Paediatr.87, 28–31 (1998).
  • Tauber M, Diene G, Molinas C et al. A review of 64 cases of death in children with Prader–Willi syndrome (PWS). Am. J. Med. Genet. A46, 881–887 (2008).
  • Craig ME, Cowell CT, Larsson P et al. Growth hormone treatment and adverse events in Prader–Willi syndrome: data from KIGS (the Pfizer International Growth Database). Clin. Endocrinol. (Oxf.)65, 178–185 (2006).
  • Obata K, Sakazume S, Yoshino A et al. Effects of 5 years growth hormone treatment in patients with Prader–Willi syndrome. J. Pediatr. Endocrinol. Metab.16, 155–162 (2003).
  • Carrel AL, Myers SE, Whitman BY et al. Growth hormone improves body composition, fat utilization, physical strength and agility, and growth in Prader–Willi syndrome: a controlled study. J. Pediatr.134, 215–221 (1999).
  • Brambilla P, Bosio L, Manzoni P et al. Peculiar body composition in patients with Prader–Labhart–Willi syndrome. Am. J. Clin. Nutr.65, 1369–1374 (1997).
  • Carrel HA, Moerchen V, Myers SE et al. Growth hormone improves mobility and body composition in infants and toddlers with Prader–Willi syndrome. J. Pediatr.145, 744–749 (2004).
  • Eiholzer U, l’Allemand D, van der Sluis I et al. Body composition abnormalities in children with Prader–Willi syndrome and long-term effects of growth hormone therapy. Horm. Res.53, 200–206 (2000).
  • Lindgren A, Hellstrom L, Ritzen E et al. Growth hormone treatment increases CO2 response, ventilation and central inspiratory drive in children with Prader–Willy syndrome. Eur. J. Pediatr.158(11), 936–940 (1999).
  • Myers SE, Whitman BY, Carrel AL et al. Two years of growth hormone therapy in young children with Prader–Willi syndrome: physical and neurodevelopmental benefits. Am. J. Med. Genet. A143, 443–448 (2007).
  • Whitman BY, Myers S, Carrel A et al. The behavioral impact of growth hormone treatment for children and adolescents with Prader–Willi syndrome: a 2-year, controlled study. Pediatrics109, e35 (2002).
  • Eiholzer U, Meinhardt U, Rousson V et al. Delopmental profiles in young children with Prader–Labhart–Willi syndrome: effects of weight and therapy with growth hormone or coenzyme Q10. Am. J. Med. Genet. A146, 873–880 (2008).
  • Crinò A, Di Giorgio G, Manco M et al. Effects of Growth Hormone therapy on glucose metabolism and insulin sensitivity indices in prepubertal children with Prader–Willi syndrome. Horm. Res.68, 83–90 (2007).
  • Odent T, Accadbled F, Koureas G et al. Scoliosis in patients with Prader–Willi Syndrome. Pediatrics.122, e499–e503. (2008).
  • de Lind van Wijngaarden RF, de Klerk LW, Festen DA et al. Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader–Willi syndrome. J. Clin. Endocrinol. Metab.94, 1274–1280 (2009).
  • Miller JL, Silverstein J, Shuster J et al. Short-term effects of growth hormone on sleep abnormalities in Prader–Willi syndrome. J. Clin. Endo. Metab.91, 413–417 (2006).
  • Priano L, Grugni G, Miscio G et al. Sleep cycling alternating pattern (CAP) expression is associated with hypersomnia and GH secretory pattern in Prader–Willi syndrome. Sleep Med.7, 627–633 (2006).
  • Vela-Bueno A, Kales A, Soldatos C et al. Sleep in the Prader Willi syndrome. Clinical and polygraphic findings. Arch. Neurol.41, 294–296 (1984).
  • Mack S, Kc P, Wu M et al. Paraventricular oxytocin neurons are involved in neural modulation of breathing. J. Appl. Physiol.92, 826–834 (2002).
  • Ren J, Lee S, Pagliardini S et al. Absence of Ndn, encoding the Prader–Willi syndrome deleted gene necdin, results in congenital deficiency of central respiratory drive in neonatal mice. J. Neurosci.23, 1569–1573 (2003).
  • Gerard M, Hernandez L, Wevrick R et al. Disruption of the mouse necdin gene results in early postnatal lethality: a model for neonatal distress in Prader–Willi Syndrome. Nat. Genet.23, 199–202 (1999).
  • Fillon M, Deal C, Van Vliet G. Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader–Willi syndrome. J. Pediatr.154, 230–233 (2009).
  • Verrillo E, Bruni O, Franco P et al. Analysis of NREM sleep in children with Prader–Willi syndrome and the effect of growth hormone treatment. Sleep Med.10, 646–650 (2009).
  • Gerard JM, Garibaldi L, Myers SE et al. Sleep apnea in patients receiving growth hormone. Clin. Pediatr. (Phila.)36, 321–326 (1997).
  • Eiholzer U. Deaths in children with Prader–Willi syndrome. Horm. Res.63, 33–39 (2005).
  • Sacco M, Di Giorgio G. Sudden death in Prader–Willi syndrome during growth hormone therapy. Horm. Res.63, 29–32 (2005).
  • Salvatoni A, Veronelli E, Nosetti L et al. Short-term effects of GH treatment on the upper airways of non severely obese children with Prader–Willi syndrome. J. Endocrinol. Invest.32(7), 601–605 (2009).
  • Miller JL, Goldstone AP, Couch JA et al. Pituitary abnormalities in Prader–Willi syndrome and early onset morbid obesity. Am. J. Med. Genet. A146, 570–577 (2008).
  • Whittington J, Holland A, Webb T et al. Population prevalence and estimated birth incidence and mortality rate for people with Prader Willi syndrome in one U.K. health region. J. Med. Genet.38, 792–798 (2001).
  • Nagai T, Obata K, Tonoki H et al. Cause of sudden, unexpected death of Prader–Willi syndrome patients with or without growth hormone treatment. Am. J. Med. Genet. A136A, 45–48 (2005).
  • Stafler P, Wallis C. Prader–Willi syndrome: who can have growth hormone? Arch. Dis. Child.93, 341–345 (2008).
  • Nolte W, Radisch C, Rodenbeck A et al. Polysomnographic findings in five adult patients with pituitary insufficiency before and after cessation of human growth hormone replacement therapy. Clin. Endocrinol. (Oxf.)56, 805–810 (2002).
  • Backeljauw PF, Underwood LE. The GHIS Collaborative Group: therapy for 6.5–7.5 years with recombinant insulin-like growth factor I in children with growth hormone insensitivity syndrome: a clinical research center study. J. Clin. Endocrinol. Metab.86, 1504–1510 (2001).
  • Festen DA, Visser TJ, Otten BJ et al. Thyroid hormone levels in children with Prader–Willi syndrome before and during growth hormone treatment. Clin. Endocrinol. (Oxf.)67, 449–456 (2007).
  • Butler MG, Theodoro M, Skouse JD. Thyroid function studies in Prader–Willi syndrome. Am. J. Med. Genet. A143, 488–492 (2007).
  • Angulo M, Castro-Magana M, Mazur B et al. 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.9, 393–400 (1996).
  • Höybye C, Hilding A, Jacobsson H. Somatotropin therapy in adults with Prader–Willi syndrome. Treat. Endocrinol.3, 153–160 (2004).
  • Goldstone AP, Thomas EL, Brynes AE et al. Visceral adipose tissue and metabolic complications of obesity are reduced in Prader–Willi syndrome female adults: evidence for novel influences on body fat distribution. J. Clin. Endocrinol. Metab.86(9), 4330–4338 (2001).
  • Höybye C, Hilding A, Jacobsson H et al. Growth hormone treatment improves body composition in adults with Prader–Willi syndrome. Clin. Endocrinol. (Oxf.)58, 653–661 (2003).
  • Hoybye C, Rudling M. Long-term GH treatment of GH deficient adults: Comparison between one and two daily injections. J. Endocrinol. Invest.29, 950–956 (2006).
  • Harriette RM, Lee PDK, Whitman BY 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.93, 1238–1245 (2008).
  • Bosio L, Beccaria, L, Benzi F et al. Body composition during GH treatment in Prader–Willi syndrome. J. Pediatr. Endocrinol. Metab.12, 351–353 (1999).
  • Gondoni LA, Vismara L, Marzullo P et al. Growth hormone therapy improves exercise capacity in adult patients with Prader–Willi syndrome. J. Endocrinol. Invest.31, 765–772 (2008).
  • Krysiak R, Gdula-Dymek A, Bednarska-Czerwiñska A et al. Growth hormone therapy in children and adults. Pharmacol. Rep.59500–59516 (2007).
  • Herman-Bonert VS, Prager D, Melmed S. Growth Hormone and Metabolism: The Pituitary. Blackwell Science, Cambridge, Massachusetts, USA (1995).
  • Solomon F, Cuneo RC, Hesp R et al. The effects of treatment with recombinant human growth hormone on body composition and metabolism in adults with growth hormone deficiency. N. Eng. J. Med.321, 1729–1803 (1989).
  • Binnerts A, Swart GR, Wilson JHP et al. The effect of growth hormone administration in growth hormone-deficient adults on bone, protein, carbohydrate and lipid homeostasis, as well as on body composition. Clin. Endocrinol. (Oxf.)37, 79–87 (1992).
  • Zipf WB. Glucose homeostasis in Prader–Willi syndrome and potential implications of growth hormone therapy. Acta Paediatrica443(Suppl.), 115–117 (1999).
  • l’Allemand D, Eiholzer U, Schlumpf M et al. Cardiovascular risk factors improve under 3 years of growth hormone therapy in Prader–Willi syndrome. Eur. J. Pedia.159, 835–842 (2000).
  • Schuster DP, Osei K, Zipf WB. Characterization of alterations in glucose and insulin metabolism in Prader–Willi subjects. Metabolism45, 1514–1520 (1996).
  • Bray GA, Dahms WT, Swerdloff RS et al. The Prader–Willi syndrome: a study of 40 patients and a review of the literature. Medicine (Baltimore)62, 59–80 (1983).
  • Tauber M, Barbeau C, Jouret B et al. Auxological and endocrine evolution of 28 children with Prader–Willi syndrome: effect of GH therapy in 14 children. Horm. Res.53, 279–287 (2000).
  • Gacs G, Banos C. The effect of growth hormone on the plasma levels of T4, free-T4, T3, reverse T3 and TBG in hypopituitary patients. Acta Endocrinol.96, 475–479 (1981).
  • Agha A, Walker D, Perry L et al. Unmasking of central hypothyroidism following growth hormone replacement in adult hypopituitary patients. Clin. Endocrinol. (Oxf.)66, 72–77 (2007).
  • Jorgensen JO, Moller J, Laursen T et al. Growth hormone administration stimulates energy expenditure and extrathyroidal conversion of thyroxine to triiodothyronine in a dose-dependent manner and suppresses circadian thyrotrophin levels: studies in GH-deficient adults. Clin. Endocrinol. (Oxf.)41, 609–614 (1994).
  • Hana V, Prazny M, Marek J et al. Reduced microvascular perfusion and reactivity in adult GH deficient patients is restored by GH replacement. Eur. J. Endocrinol.147, 333–337 (2002).
  • Patel S, Harmer JA, Loughnan G, Skilton MR, Steinbeck K, Celermajer DS. Characteristics of cardiac and vascular structure and function in Prader–Willi syndrome. Clin. Endocrinol66, 771–777 (2007).
  • Calisti L, Giannessi N, Cesaretti G et al. Endocrine study in the Prader–Willi syndrome. Apropos of 5 cases. Minerva Pediatr. Italian43, 587–593 (1991).
  • Huw K, Klish WJ, Henson H et al. Endocrine status, growth hormone therapy and body composition in Prader–Willi syndrome. Proceedings of the 74th Meeting of the Endocrine Society. San Antonio, TX, USA, 229, 710 abstract (1992).
  • Eiholzer U, Weber R, Stutz K et al. Effect of 6 months of growth hormone treatment in young children with Prader–Willi syndrome. Acta Paediatr. Suppl.423, 66–68 (1997).
  • Grosso S, Cioni M, Buoni S et al. Growth hormone secretion in Prader–Willi syndrome. J. Endocrinol. Invest.21, 418–22 (1998).
  • Grugni G, Guzzaloni G, Moro D et al. Reduced growth hormone (GH) responsiveness to combined GH-releasing hormone and pyridostigmine administration in the Prader–Willi syndrome. Clin. Endocrinol. (Oxf.)48, 769–775 (1998).
  • Lindgren AC, Hagenäs L, Müller J et al. Growth hormone treatment of children with Prader–Willi syndrome affects linear growth and body composition favourably. Acta Paediatr.87, 28–31 (1998).
  • Sipilä I, Alanne S, Apajasalo M et al. Growth hormone therapy in children with Prader–Willi syndrome. A preliminary report of one year treatment in 19 children. Horm. Res.50, 24 abstract (1998).
  • Thacker MJ, Hainline B, St Dennis-Feezle L et al. Growth failure in Prader–Willi syndrome is secondary to growth hormone deficiency. Horm. Res.49, 216–220 (1998).
  • Höybye C, Hilding A, Jacobsson H et al. Metabolic profile and body composition in adults with Prader–Willi syndrome and severe obesity. J. Clin. Endocrinol. Metab.87, 3590–3597 (2002).
  • Grugni G, Marzullo P, Ragusa L et al. Impairment of GH responsiveness to combined GH-releasing hormone and arginine administration in adult patients with Prader–Willi syndrome. Clin. Endocrinol. (Oxf.)65, 492–9 (2006).

Website

  • “Clinical Advisory Board Consensus Statement” 15 June 2009. Prader–Willi Syndrome Association (USA) Growth Hormone Treatment and Prader–Willi Syndrome. www.pwsausa.org

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.