Aim: The first results from the French National Prader-Willi pediatric database in a cohort of 142 children aged 0.2–18.8 years are reported. This database gathers information about the endocrine dysfunctions traditionally described in Prader-Willi patients. Methods: Questionnaires were filled in by the patients’ practitioners. The coordination team of the reference center performed the statistical analysis. Results: Median BMI Z-score was +1.3 for a median age of 7.1 years, and 40% of the population were overweight or obese (International Obesity Task Force 2000 criteria). Growth hormone deficiency was present in 80% of patients and 86.7% were treated, with a height gain of +1 SD and a BMI reduction of –0.8 Z-score achieved in the first year of treatment. Hypogonadism was present in 49% of patients, and hypothyroidism in 24.4%. Glucose intolerance was found in 4% of patients, but no diabetes mellitus was detected in the 74 patients explored. Conclusion: Our report gives an overview of endocrine dysfunctions recorded in a large registry database of French children and adolescents with Prader-Willi syndrome. The database, which now encompasses six southern regions of France, will be further extended to the whole country and to adult patients.

Prader A Labhart A, Willi H: Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchidismus und Oligophrenie nach myotoniertigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 1956;6:1260–1261.
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F: Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993;91:398–402.
Gunay-Aygun M, Schwartz S, Heeger S, O’Riordan MA, Cassidy SB: The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001;108:E92.
Molinas C, Cazals L, Diene G, Glattard M, Arnaud C, Tauber M: French database of children and adolescents with Prader-Willi syndrome. BMC Med Genet 2008;9:89.
Usher R, McLean F: Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in seven dimensions of infants born between 25 and 44 weeks of gestation. J Pediatr 1969;74:901–910.
Cole TJ, Bellizzi MC, Flegal KM, Dietz WH: Establishing a standard definition for child overweight and obesity worldwide: international survey. BMJ 2000;320:1240–1243.
Cole TJ: Children grow and horses race: is the adiposity rebound a critical period for later obesity? BMC Pediatr 2004;4:6.
Euling SY, Herman-Giddens ME, Lee PA, Selevan SG, Juul A, Sorensen TI, Dunkel L, Himes JH, Teilmann G, Swan SH: Examination of US puberty-timing data from 1940 to 1994 for secular trends: panel findings. Pediatrics 2008;121(suppl 3):S172–S191.
ADA: Diagnosis and classification of diabetes mellitus. Diabetes Care 2007;30(suppl 1):S42–S47.
Miller JL, Goldstone AP, Couch JA, Shuster J, He G, Driscoll DJ, Liu Y, Schmalfuss IM: Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. Am J Med Genet A 2008;146A:570–577.
Vogels A, Fryns JP: Age at diagnosis, body mass index and physical morbidity in children and adults with the Prader-Willi syndrome. Genet Couns 2004;15:397–404.
Dudley O, McManus B, Vogels A, Whittington J, Muscatelli F: Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome. J Intellect Disabil Res 2008;52:426–436.
Tauber M, Barbeau C, Jouret B, Pienkowski C, Malzac P, Moncla A, Rochiccioli P: Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children. Horm Res 2000;53:279–287.
Tauber M: Effects of Growth Hormone Treatment in Children Presenting with Prader-Willi Syndrome: The KIGS Experience. Basel, Karger, 2007.
Grugni G, Crino A, Bosio L, Corrias A, Cuttini M, De Toni T, Di Battista E, Franzese A, Gargantini L, Greggio N, Iughetti L, Livieri C, Naselli A, Pagano C, Pozzan G, Ragusa L, Salvatoni A, Trifiro G, Beccaria L, Bellizzi M, Bellone J, Brunani A, Cappa M, Caselli G, Cerioni V, Delvecchio M, Giardino D, Ianni F, Memo L, Pilotta A, Pomara C, Radetti G, Sacco M, Sanzari A, Sartorio A, Tonini G, Vettor R, Zaglia F, Chiumello G: The Italian National Survey for Prader-Willi Syndrome: an epidemiologic study. Am J Med Genet A 2008;146:861–872.
Bachere N, Diene G, Delagnes V, Molinas C, Moulin P, Tauber M: Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feeding and prevent early obesity in PWS infants. Horm Res 2008;69:45–52.
Dudley O, Muscatelli F: Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder. Early Hum Dev 2007;83:471–478.
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.
Carrel AL, Myers SE, Whitman BY, Allen DB: Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study. J Clin Endocrinol Metab 2002;87:1581–1585.
Costeff H, Holm VA, Ruvalcaba R, Shaver J: Growth hormone secretion in Prader-Willi syndrome. Acta Paediatr Scand 1990;79:1059–1062.
Craig ME, Cowell CT, Larsson P, Zipf WB, Reiter EO, Albertsson Wikland K, Ranke MB, Price DA: Growth hormone treatment and adverse events in Prader-Willi syndrome: data from KIGS (the Pfizer International Growth Database). Clin Endocrinol (Oxf) 2006;65:178–185.
Davies PS, Evans S, Broomhead S, Clough H, Day JM, Laidlaw A, Barnes ND: Effect of growth hormone on height, weight, and body composition in Prader-Willi syndrome. Arch Dis Child 1998;78:474–476.
Eiholzer U, Stutz K, Weinmann C, Torresani T, Molinari L, Prader A: Low insulin, IGF-1 and IGFBP-3 levels in children with Prader-Labhart-Willi syndrome. Eur J Pediatr 1998;157:890–893.
Fesseler WH, Bierich JR: Prader-Labhart-Willi syndrome (in German). Monatsschr Kinderheilkd 1983;131:844–847.
Grosso S, Cioni M, Buoni S, Peruzzi L, Pucci L, Berardi R: Growth hormone secretion in Prader-Willi syndrome. J Endocrinol Invest 1998;21:418–422.
Lindgren AC, Hagenas L, Muller J, Blichfeldt S, Rosenborg M, Brismar T, Ritzen EM: Growth hormone treatment of children with Prader-Willi syndrome affects linear growth and body composition favourably. Acta Paediatr 1998;87:28–31.
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;143:443–448.
Thacker MJ, Hainline B, St Dennis-Feezle L, Johnson NB, Pescovitz OH: Growth failure in Prader-Willi syndrome is secondary to growth hormone deficiency. Horm Res 1998;49:216–220.
Tauber M, Cutfield W: KIGS highlights: growth hormone treatment in Prader-Willi syndrome. Horm Res 2007;68(suppl 5):48–50.
Butler JV, Whittington JE, Holland AJ, Boer H, Clarke D, Webb T: Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev Med Child Neurol 2002;44:248–255.
Nagai T, Obata K, Ogata T, Murakami N, Katada Y, Yoshino A, Sakazume S, Tomita Y, Sakuta R, Niikawa N: Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome. Am J Med Genet A 2006;140:1623–1627.
Odent T, Accadbled F, Koureas G, Cournot M, Moine A, Diene G, Molinas C, Pinto G, Tauber M, Gomes B, de Gauzy JS, Glorion C: Scoliosis in patients with Prader-Willi syndrome. Pediatrics 2008;122:e499–e503.
De Lind van Wijngaarden RF, de Klerk LW, Festen DA, Hokken-Koelega AC: Scoliosis in Prader-Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype. Arch Dis Child 2008;93:1012–1016.
De Lind van Wijngaarden RF, de Klerk LW, Festen DA, Duivenvoorden HJ, Otten BJ, Hokken-Koelega AC: Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi syndrome. J Clin Endocrinol Metab 2009;94:1274–1280.
Crino A, Schiaffini R, Ciampalini P, Spera S, Beccaria L, Benzi F, Bosio L, Corrias A, Gargantini L, Salvatoni A, Tonini G, Trifiro G, Livieri C: Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr 2003;162:327–333.
Trifiro G, Livieri C, Bosio L, Gargantini L, Corrias A, Pozzan G, Crino A: Neonatal hypotonia: don’t forget the Prader-Willi syndrome. Acta Paediatr 2003;92:1085–1089.
Eiholzer U, L’Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Gruters A, Simoni M: Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart-Willi syndrome. J Clin Endocrinol Metab 2006;91:892–898.
Muller J: Hypogonadism and endocrine metabolic disorders in Prader-Willi syndrome. Acta Paediatr Suppl 1997;423:58–59.
Eiholzer U, Grieser J, Schlumpf M, L’Allemand D: Clinical effects of treatment for hypogonadism in male adolescents with Prader-Labhart-Willi syndrome. Horm Res 2007;68:178–184.
Butler MG, Theodoro M, Skouse JD: Thyroid function studies in Prader-Willi syndrome. Am J Med Genet A 2007;143:488–492.
Festen DA, Visser TJ, Otten BJ, Wit JM, Duivenvoorden HJ, Hokken-Koelega AC: Thyroid hormone levels in children with Prader-Willi syndrome before and during growth hormone treatment. Clin Endocrinol (Oxf) 2007;67:449–456.
L’Allemand D, Eiholzer U, Schlumpf M, Torresani T, Girard J: Carbohydrate metabolism is not impaired after 3 years of growth hormone therapy in children with Prader-Willi syndrome. Horm Res 2003;59:239–248.
Krochik AG, Ozuna B, Torrado M, Chertkoff L, Mazza C: Characterization of alterations in carbohydrate metabolism in children with Prader-Willi syndrome. J Pediatr Endocrinol Metab 2006;19:911–918.
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;93:4183–4197.
De Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, Hokken-Koelega AC: High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab 2008;93:1649–1654.
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