Prader-Willi syndrome: A review of clinical, genetic, and endocrine findings

Journal of Endocrinological Investigation

Volumn 38, Issue 12, 2015, Pages 1249-1263

  Angulo, M A ^a   Butler, M G ^b   Cataletto, M E ^a  

^a WINTHROP UNIVERSITY HOSPITAL   (United States)

^b UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

Author keywords

Chromosome 15 abnormalities; Endocrine disturbances; Genomic imprinting; Hypogonadism; Obesity; Prader Willi syndrome; Short stature

Indexed keywords

GROWTH HORMONE; SMALL NUCLEOLAR RNA; THYROTROPIN;

ADRENAL INSUFFICIENCY; ARTICLE; CHROMOSOME DELETION; CLINICAL PRACTICE; COGNITIVE DEFECT; DNA METHYLATION; FAILURE TO THRIVE; FEEDING DIFFICULTY; GENETIC SCREENING; GENOME IMPRINTING; GROWTH HORMONE DEFICIENCY; HAPPY PUPPET SYNDROME; HUMAN; HYPERGLYCEMIA; HYPERPHAGIA; HYPERSOMNIA; HYPOGONADISM; HYPOTHALAMUS DISEASE; HYPOTHYROIDISM; INSULIN RESISTANCE; INTELLECTUAL IMPAIRMENT; MUSCLE HYPOTONIA; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PAIN THRESHOLD; PRADER WILLI SYNDROME; SLEEP DISORDERED BREATHING; UNIPARENTAL DISOMY; WEIGHT GAIN; GENETICS; METABOLISM; PATHOPHYSIOLOGY;

HUMANS; PRADER-WILLI SYNDROME;

EID: 84946041918     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.1007/s40618-015-0312-9     Document Type: Article

References (146)

1. Prader A, Labhart A, Willi H (1956) Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im neugeborenenalter. Schweiz Med Wochenschr 86:1260-1261
2. Bittel DC, Butler MG (2005) Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 7(14):1-20
3. Butler MG, Lee PDK, Whitman BY (2006) Management of Prader-Willi Syndrome. Springer, New York
4. Butler MG (2011) Prader-Willi syndrome: obesity due to genomic imprinting. Curr Genomics 12:204-215
5. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ (2012) Prader-Willi syndrome. Genet Med 14(1):10-26
6. Aycan Z, Bas VN (2014) Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol 6(2):62-67
7. Buiting K (2010) Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C Semin Med Genet 154C:365-376
8. Williams CA, Driscoll DJ, Dagli AI (2010) Clinical and genetic aspects of Angelman syndrome. Genet Med 12(7):385-395
9. Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M (1989) Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342(6247):281-285
10. Nicholls RD, Knepper JL (2001) Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Ann Rev Genomics Hum Genet 2:153-175
11. Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B (2003) Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 72(3):571-577
12. Butler MG, Thompson T (2000) Prader-Willi syndrome: clinical and genetic finding. Endocrinology 10:3S-16S
13. Butler MG (1990) Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet 35(3):319-332
14. Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG (1996) Breakage in the SNRPN locus in a balanced 46, XY, t(15;19) Prader-Willi syndrome patient. Hum Mol Genet 5(4):517-524
15. Butler MG, Christian SL, Kubota T, Ledbetter DH (1996) A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13. Am J Med Genet 65(2):137-141
16. Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ (2012) Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet 20(3):283-290
17. Rocha CF, Paiva CL (2014) Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities. Genet Mol Res 1:2290-2298
18. Butler MG (2009) Genomic imprinting disorders in humans: a mini-review. J Assist Reprod Genet 26(9-10):477-486
19. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F (1993) Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91(2):398-402
20. Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB (2001) The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108(5):E92
21. Bittel DC, Kibiryeva N, Butler MG (2007) Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet Test 11(4):467-475
22. Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, Butler MG (2012) Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers 16(3):178-186
23. Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, Dykens E, Butler MG, Shuster JJ, Driscoll DJ (2011) Nutritional phases in Prader-Willi syndrome. Am J Med Genet A 155(5):1040-1049
24. Cummings DE, Clement K, Purnell JQ, Vaisse C, Foster KE, Frayo RS, Schwartz MW, Basdevant A, Weigle DS (2002) Elevated plasma ghrelin levels in Prader-Willi syndrome. Nat Med 8(7):643-644
25. Del Parigi A, Tschöp M, Heiman ML, Salbe AD, Vozarova B, Sell SM, Bunt JC, Tataranni PA (2002) High circulating ghrelin: a potential cause for hyperphagia and obesity in Prader-Willi syndrome. J Clin Endocrinol Metab 87:5461-5464
26. Tan TM-M, Vanderpump M, Khoo B, Patterson M, Ghatei MA, Goldstone AP (2004) Somatostatin infusion lowers plasma ghrelin without reducing appetite in adults with Prader-Willi syndrome. J Clin Endocrinol Metab 89(8):4162-4165
27. De Waele K, Ishkanian SL, Bogarin R, Miranda CA, Ghatei MA, Bloom SR, Pacaud D, Chanoine JP (2008) Long-acting octreotide treatment causes a sustained decrease in ghrelin concentrations but does not affect weight, behaviour and appetite in subjects with Prader-Willi syndrome. Eur J Endocrinol 159(4):381-388
28. Kweh FA, Miller JL, Sulsona CR, Wasserfall C, Atkinson M, Shuster JJ, Goldstone AP, Driscoll DJ (2015) Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia. Am J Med Genet A 167(1):69-79
29. Butler JV, Whittington JE, Holland AJ, Boer H, Clarke D, Webb T (2002) Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev Med and Child Neurol 44(4):248-255
30. Haqq AM, Muehlbauer MJ, Newgard CB, Grambow S, Freemark M (2011) The metabolic phenotype of Prader-Willi syndrome (PWS) in childhood: heightened insulin sensitivity relative to body mass index. J Clin Endocrinol Metab 96:E225-E232
31. Diene G, Mimoun E, Feigerlova E et al (2010) French Reference Centre for PWS. Endocrine disorders in children with Prader-Willi syndrome-data from 142 children of the French database. Horm Res Paediatr 74:121-128
32. Waterland RA, Jirtle RL (2004) Early nutrition, epigenetic changes at transposons and imprinted genes, and enhanced susceptibility to adult chronic diseases. Nutrition 20(1):63-68
33. Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG (2003) Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. J Med Genet 40(8):568-574
34. Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG (2005) Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics 85(1):85-91
35. Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL (2008) Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40(6):719-721
36. de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI (2009) A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet 18(17):3257-3265
37. Bieth E, Eddiry S, Gaston V, Lorenzini F, Buffet A, Conte Auriol F, Molinas C, Cailley D, Rooryck C, Arveiler B, Cavaille J, Salles JP, Tauber M (2015) Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi syndrome. Eur J Hum Genet 23(2):252-255
38. Kishore S, Stamm S (2006) The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311(5758):230-232
39. Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y (2013) Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 45(11):1405-1408
40. Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC (2014) Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. J Clin Endocrinol Metab 99(6):E1097-E1103
41. Buiting K, Nazlican H, Galetzka D, Wawrzik M, Gross S, Horsthemke B (2007) C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics 89(5):588-595
42. Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD (2003) Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet 73(4):898-925
43. Butler MG (1989) Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am J Hum Genet 45(1):140-146
44. Butler MG, Fischer W, Kibiryeva N, Bittel DC (2008) Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet Part A 146A(7):854-860
45. Bittel DC, Kibiryeva N, Butler MG (2006) Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics 118(4):e1276-e1283
46. Svenstrup K, Moller RS, Christensen J, Budtz-Jorgensen E, Gilling M, Nielsen JE (2011) NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. Eur J Neurol 18(9):1197-1199
47. Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG (2011) Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet 130(4):517-528
48. Jerkovich AM, Butler MG (2014) Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome. J Ped Genet 3(1):41-44
49. Cox DM, Butler MG (2015) The 15q11.2 BP1-BP2 microdeletion syndrome: a review. Int J Mol Sci 16(2):4068-4082
50. Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T (2004) Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 113:565-573
51. Zarcone J, Napolitano D, Peterson C, Breidbord J, Ferraioli S, Caruso-Anderson M, Holsen L, Butler MG, Thompson T (2007) The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome. J Intellect Disabil Res 51:478-487
52. Cassidy SB, Lai LW, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J (1992) Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 51:701-708
53. Butler MG, Sturich J, Myers SE, Gold JA, Kimonis V, Driscoll DJ (2009) Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reproduct Genet 26(8):461-466
54. Newkirk HL, Bittel DC, Butler MG (2008) Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array. Am J Med Genet Part A 146A(18):2346-2354
55. Beebe D (2006) Neurobehavioral morbidity associated with disordered breathing during sleep in children: a comprehensive review. Sleep 29(9):1115-1134
56. Maas AP, Sinnema M, Didden R, Maaskant MA, Smits MG, Schrander-Stumpel CT, Curfs LM (2010) Sleep disturbances and behavioral problems in adults with PWS. J Intellect Disabil Res 54:906-917
57. Sedky K, Bennett DS, Pumariega A (2014) Prader-Willi syndrome and obstructive sleep apnea: co-occurrence in the pediatric population. J Clin Sleep Med 10(4):403-409
58. Bruni O, Verrillo E, Novellia L, Ferric R (2010) Prader-Willi Syndrome: sorting out the relationships between obesity, hypersomnia and sleep apnea. Curr Opin Pulm Med 16:568-573
59. Weselake SV, Foulds JL, Couch R et al (2014) Prader-Willi syndrome, excessive daytime sleepiness and narcoleptic symptoms: a case report. J Med Case Rep 8:127
60. Nishino S, Kanbayashi T (2005) Symptomatic narcolepsy, cataplexy and hypersomnia and their implications in the hypothalamic hypocretin/orexin system. Sleep Med Rev 9(4):269-310
61. Arii J, Kanbayashi T, Tanabe Y et al (2004) CSF hypocretin 1 levels in childhood narcolepsy and neurologic disorders. Neurology 63(12):2440-2442
62. Bittel DC, Kibiryeva N, Sell SM, Strong TV, Butler MG (2007) Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am J Med Genet 143A(5):430-442
63. Fronczek R, Lammers J, Balesar R et al (2005) The number of hypothalamic hypocretin neurons is not affected in Prader-Willi syndrome. J Clin Endocrinol Metab 90:5466-5470
64. Maas AP, Didden R, Bouts L, Smits MG, Curfs LM (2009) Scatter plot analysis of excessive daytime sleepiness and severe disruptive behavior in adults with PWS: a pilot study. Res Dev Disabil 30:529-537
65. Lindgren AC, Hellstrom LG, Ritzen EM, Milerad J (1999) Growth hormone treatment increases CO2 response, ventilation and central inspiratory drive in children with PWS. Eur J Pediatr 158:936-940
66. Katz-Solomon M, Lindgren AC, Cohen G (2012) The effect of growth hormone on sleep related cardiopulmonary control in PWS. Acta Paediatr 101(6):643-648
67. Al-Saleh S, Al-Naimi A, Hamilton J et al (2013) Longitudinal evaluation of sleep disordered breathing in children with PWS during 2 years of growth hormone therapy. J Pediatr 162:263-268
68. Berini J, Spica-Russotto V, Castelnuevo P et al (2013) Growth hormone therapy and respiratory disorders: long term follow-up in PWS children. J Clin Endocrinol Metab 98(9):E1516-E1523
69. Katz ES, Marcus CL (2014) Diagnosis of obstructive sleep Apnea syndrome in infants and children. In: Sheldon SH, Ferber R, Kryger M, Gozal D (eds) Principles and practice of pediatric sleep medicine, 2nd edn. Elsevier, New York, pp 321-322
70. Whitman BY, Myers SE (2013) Prader-Willi syndrome and growth hormone therapy: take a deep breath and weigh the data. J Peds 162(2):224-226
71. Bhattacharjee R, Kheirandish-Gozal LK, Spruyt K et al (2010) Adenotonsillectomy outcomes in treatment of obstructive sleep apnea in children. Am J Respir Crit Care Med 182:676-683
72. Meyer SL, Splaingard M, Repaske DR et al (2012) Outcomes of adenotonsillectomy in patients with Prader-Willi syndrome. Arch Otolaryngol Head Neck Surg 138(11):1047-1051
73. Crockett DJ, Ahmed SR, Sowder DR et al (2014) Velopharyngeal dysfunction in children with Prader-Willi syndrome after adenotonsillectomy. Int J Ped Otorhinolaryngology 78:1731-1734
74. Qaseem A, Holty JE, Owens DK, Dallas P, Starkey M, Shekelle P, For the Clinical Guidelines Committee of the American College of Physicians (2013) Management of obstructive sleep Apnea in adults: a clinical practice guideline from the American College of Physicians. Ann Intern Med 159(7):471-483
75. Angulo MA, Castro-Magana M, Lamerson M, Arguello R, Accacha S, Khan A (2007) Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment. Am J Med Genet A 143A(13):1456-1461
76. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ (2012) Prader-Willi syndrome. Genet Med 14(1):10-26
77. Butler MG, Sturich J, Lee J, Myers SE, Whitman BY, Gold JA, Kimonis V, Scheimann A, Terrazas N, Driscoll DJ (2011) Growth standards of infants with Prader-Willi syndrome. Pediatrics 127(4):687-695
78. Butler MG, Lee J, Manzardo AM, Gold JA, Miller JL, Kimonis V, Driscoll DJ (2015) Growth charts for non-growth hormone treated Prader-Willi syndrome. Pediatrics 135(1):e126-e135
79. Grugni G, Crinò A, Pagani S, Meazza C, Buzi F, De Toni T, Gargantini L, Pilotta A, Pozzan GB, Radetti G, Ragusa L, Salvatoni A, Sartorio A (2011) Growth hormone secretory pattern in non-obese children and adolescents with Prader-Willi syndrome. J Pediatr Endocrinol Metab 24(7-8):477-481
80. Carrel AL, Myers SE, Whitman BY, Eickhoff J, Allen DB (2010) Long-term growth hormone therapy changes the natural history of body composition and motor function in children with Prader-Willi syndrome. J Clin Endocrinol Metab 95:1131-1136
81. Angulo M, Castro-Magana M, Mazur B, Canas JA, Vitollo PM, Sarrantonio M (1996) 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(3):393-400
82. Eiholzer U, l'Allemand D (2000) Growth hormone normalizes height, prediction of final height and hand length in children with Prader-Willi syndrome after 4 years of therapy. Horm Res 53(4):185-192
83. Bakker NE, Kuppens RJ, Siemensma EP et al (2013) Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects. J Clin Endocrinol Metab 98(10):4013-4022
84. Nakamura Y, Murakami N, Iida T, Asano S, Ozeki S, Nagai T (2014) Growth hormone treatment for osteoporosis in patients with scoliosis of Prader-Willi syndrome. J Orthop Sci 19:877-882
85. Oto Y, Tanaka Y, Abe Y, Obata K, Tsuchiya T, Yoshino A, Murakami N, Nagai T (2014) Exacerbation of BMI after cessation of growth hormone therapy in patients with Prader-Willi syndrome. Am J Med Genet A 164A(3):671-675
86. Coupaye M, Lorenzini F, Llore-Linares C et al (2013) Growth hormone therapy for children and adolescents with Prader-Willi syndrome is associated with improved body composition and metabolic status in adulthood. J Clin Endocrinol Metab 98:E328-E335
87. Butler MG, Smith BK, Lee J, Gibson C, Schmoll C, Moore WV, Donnelly JE (2013) Effects of growth hormone treatment in adults with Prader-Willi syndrome. Growth Horm IGF Res 23(3):81-87
88. Lafortuna CL, Minocci A, Capodaglio P, Gondoni LA, Sartorio A, Vismara L, Rizzo G, Grugni G (2014) Skeletal muscle characteristics and motor performance after 2-year growth hormone treatment in adults with Prader-Willi syndrome. J Clin Endocrinol Metab 99:1816-1824
89. Marzullo P, Marcassa C, Campini R, Eleuteri E, Minocci A, Priano L, Temporelli P, Sartorio A, Vettor R, Liuzzi A, Grugni G (2005) The Impact of growth hormone/insulin-like growth factor-I axis and nocturnal breathing disorders on cardiovascular features of adult patients with Prader-Willi syndrome. J Clin Endocrinol Metab 90:5639-5646
90. Marzullo P, Marcassa C, Minocci A, Campini R, Eleuteri E, Alessandro Gondoni L, Aimaretti G, Sartorio A, Scacchi M, Grugni G (2015) Long-term echocardiographic and cardioscintigraphic effects of growth hormone treatment in adults with Prader-Willi syndrome. J Clin Endocrinol Metab. doi: 10.1210/jc2015-1063
91. Myers SE, Whitman BY, Carrel AL, Moerchen V, Bekx MT, Allen DB (2007) Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits. Am J Med Genet A 143A(5):443-448
92. Festen DA, Wevers M, Lindgren AC, Böhm B, Otten BJ, Wit JM et al (2008) Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome. Clin Endocrinol 68:919-925
93. Siemensma EP, de Lindvanwijngaarder RF, Festen DA et al (2012) 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 97(7):2307-2314
94. Höybye C, Thorén M, Böhm B (2005) Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader-Willi syndrome. J Intellect Disabil Res 49:245-252
95. Böhm B, Ritzén EM, Lindgren AC (2014) Growth hormone treatment improves vitality and behavioural issues in children with Prader-Willi Syndrome. Acta Paediatric 104:59-67
96. Deal CL, Tony M, Höybye C et al (2013) Growth hormone research society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. J Clin Endocrinol Metab 98:E1072-E1087
97. Feigerlova E, Diene G, Oliver I, Gennero I, Salles JP, Arnaud C, Tauber M (2010) Elevated insulin-like growth factor-I values in children with Prader-Willi syndrome compared with growth hormone (GH) deficiency children over two years of GH treatment. J Clin Endocrinol Metab 95(10):4600-4608
98. Nagai T, Obata K, Ogata T, Murakami N, Katada Y, Yoshino A, Sakazume S, Tomita Y, Sakuta R, Niikawa N (2006) Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome. Am J Med Genet A 140:1623-1627
99. de Lind van Wijngaarden RF, de Klerk LW, Festen DA, Hokken-Koelega AC (2008) Scoliosis in Prader-Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype. Arch Dis Child 93:1012-1016
100. 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 (2008) Scoliosis in patients with Prader-Willi-Syndrome. Pediatrics 122(2):e499-e503
101. Diene G, de Gauzy JS, Tauber M (2008) Is scoliosis an issue for giving growth hormone to children with Prader-Willi syndrome? Arch Dis Childhood 93(12):1004-1006
102. de Lind van Wijngaarden RF, de Klerk LW, Festen DA, Duivenvoorden HJ, Otten BJ, Hokken-Koelega AC (2009) Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi syndrome. J Clin Endocrinol Metab 94(4):1274-1280
103. Murakami N, Obata K, Abe Y, Oto Y, Kido Y, Itabashi H, Tsuchiya T, Tanaka Y, Yoshino A, Nagai T (2012) Scoliosis in Prader-Willi syndrome: effect of growth hormone therapy and value of paravertebral muscle volume by CT in predicting scoliosis progression. Am J Med Genet A 158A(7):1628-1633
104. Tauber M, Diene G, Molinas C, Hébert M (2008) Review of 64 cases of death in children with Prader-Willi syndrome (PWS). Am J Med Genet Part A 146(7):881-887
105. Einfeld SL, Kavanagh SJ, Smith A, Evans EJ, Tonge BJ, Taffe J, Dykens E (2006) Mortality in Prader-Willi syndrome. Am J Ment Retard 111(3):193-198
106. Van Vliet G, Deal CL, Crock PA, Robitaille Y, Oligny LL (2004) Sudden death in growth hormone-treated children with Prader-Willi syndrome. J Pediatr 144:129-131
107. Mogul HR, Lee PD, Whitman BY, Zipf WB, Frey M, Myers S, Cahan M, Pinyerd B, Southren AL (2008) 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(4):1238-1245
108. Sode-Carlsen R, Farholt S, Rabben KF, Bollerslev J, Schreiner T, Jurik AG, Christiansen JS, Hoybye C (2012) Growth hormone treatment in adults with Prader-Willi syndrome: the Scandinavian study. Endocrine 41(2):191-199
109. Sode-Carlsen R et al (2010) One year of growth hormone treatment in adults with Prader-Willi syndrome improves body composition: results from a randomized, placebo-controlled study. J Clin Endocrinol Metab 95(11):4943-4950
110. Sanchez-Ortiga R, Klibanski A, Tritos NA (2012) Effects of recombinant human growth hormone therapy in adults with Prader-Willi syndrome: a meta-analysis. Clin Endocrinol 77(1):86-93
111. Molitch M, Clemmons D, Malozowski S, Merriam G, Vance M (2011) Evaluation and treatment of adult growth hormone deficiency: an endocrine society clinical practice guidelines. J Clin Endocrinol Metab 96(6):1587-1609
112. Vogels A, Moerman P, Frijns JP, Bogaert GA (2008) Testicular histology in boys with Prader-Willi syndrome: fertile or infertile?J Urol 180:1800-1804
113. Siemensma EP, de Lind van Wijngaarden RF, Otten BJ, de Jong FH, Hokken-Koelega AC (2012) Testicular failure in boys with Prader-Willi syndrome: longitudinal studies of reproductive hormones. J Clin Endocrinol Metab 97:E452-E459
114. Radicioni AF, Di Giorgio G, Grugni G, Cuttini M, Losacco V, Anzuini A, Spera S, Marzano C, Lenzi A, Cappa M, Crinó A (2012) Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader-Willi syndrome. Clin Endocrinol (Oxf) 76:72-77
115. Eiholzer U, l'Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Gruters A, Simoni M (2006) Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart-Willi syndrome. J Clin Endocrinol Metab 91:892-898
116. Fillion M, Deal CL, Van Vliet G (2006) Normal minipuberty of infancy in boys with Prader-Willi syndrome. J Pediatr 149:874-876
117. Hirsch HJ, Eldar-Geva T, Erlichman M, Pollak Y, Gross-Tsur V (2014) Characterization of minipuberty in infants with Prader-Willi syndrome. Horm Res Paediatr 82:230-237
118. Siemensma EP, van Alfen-van der Velden AA, Otten BJ, Laven JS, Hokken-Koelega AC (2012) Ovarian function and reproductive hormone levels in girls with Prader-Willi syndrome: a longitudinal study. J Clin Endocrinol Metab 97:E1766-E1773
119. Eldar-Geva T, Hirsch HJ, Rabinowitz R, Benarroch F, Rubinstein O, Gross-Tsur V (2009) Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome. Horm Res 72(3):153-159
120. Eldar-Geva T, Hirsch HJ, Benarroch F, Rubinstein O, Gross-Tsur V (2010) Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction. Eur J Endocrinol 162(2):377-384
121. Akefeldt A, Tornhage CJ, Gillberg C (1999) A woman with Prader-Willi syndrome gives birth to a healthy baby girl. Dev Med Child Neurol 41:789-790
122. Schulze A, Mogensen H, Hamborg-Petersen B, Graem N, Ostergaard JR, Brondum-Nielsen K (2001) Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. Acta Paediatr 90:455-459
123. Schmidt H, Schwarz PS (2001) Premature adrenarche, increased growth velocity and accelerated bone age in male patients with Prader-Labhart-Willi syndrome. Eur J Pediatr 160:69-70
124. Angulo MA, Castro-Magana M, Lamerson M, Arguello R, Accacha S, Khan A (2007) Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment. Am J Med Genet A 143A(13):1456-1461
125. Siemensma EP, Lind van Wijngaarden RF, Otten BJ, de Jong FH, Hokken-Koelega AC (2011) Pubarche and serum dehydroepiandrosterone sulphate levels in children with Prader-Willi syndrome. Clin Endocrinol (Oxf) 75:83-89
126. Butler MG, Haber L, Mernaugh R, Carlson MG, Price R, Feurer ID (2001) Decreased bone mineral density in Prader-Willi syndrome: comparison with obese subjects. Am J Med Genet 103:216-222
127. Vestergaard P, Kristensen K, Bruun JM, Østergaard JR, Heickendorff L, Mosekilde L, Richelsen B (2004) Reduced bone mineral density and increased bone turnover in prader-willi syndrome compared with controls matched for sex and body mass index - a cross-sectional study. J Pediatr 144(5):614-619
128. Bakker NE, Wolffenbuttel KP, Looijenga LH, Hokken-Koelega AC (2015) Testes in enfants with Prader-Willi syndrome: human chorionic gonadotropin treatment, surgery and histology. J Urol 193:291-298
129. McCandless SE, Committee in Genetics (2011) Clinical report-health supervision for children with Prader-Willi syndrome. Pediatrics 127(1):195-204
130. Young J (2012) Approach to the male patient with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab 97:707-718
131. Zitzmann M, Nieschlag E (2000) Hormone substitution in male hypogonadism. Mol Cell Endocrinol 161:73-88
132. Tauber M, Barbeau C, Jouret B, Pienkowski C, Malzac P, Moncla A, Rochiccioli P (2000) Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children. Horm Res 53(6):279-287
133. Butler M, Theodoro M, Skouse JD (2007) Thyroid function studies in Prader-Willi syndrome. Am J Med Genet Part A 143A:488-492
134. Vaiani E, Herzovich V, ChalerE Chertkoff L, Rivarola MA, Torrado M, Belgorosky A (2010) Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life. Clin Endocrinol (Oxf) 73:546-550
135. Sharkia M, Michaud S, Berthier MT, Giguère Y, Stewart L, Deladoëy J, Deal C, Van Vliet G, Chanoine JP (2013) Thyroid function from birth to adolescence in Prader-Willi syndrome. J Pediatr 163(3):800-805
136. Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, Hokken-Koelega AC (2008) High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab 93:1649-1654
137. Grugni G, Beccaria L, Corrias A, Crino A, Cappa M, De Medici C, Candia SD, Gargantini L, Ragusa L, Salvatoni A et al (2013) Central adrenal insufficiency in young adults with Prader-Willi syndrome. Clin Endocrinol (Oxf) 79:371-378
138. Corrias A, Grugni G, Crino A, Di Candia S, Chiabotto P, Cogliardi A, Chiumello G, De Medici C, Spera S, Gargantini L et al (2012) Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome. Clin Endocrinol (Oxf) 76:843-850
139. Connell NA, Paterson WF, Wallace AM, Donaldson MD (2010) Adrenal function and mortality in children and adolescents with Prader-Willi syndrome attending a single centre from 1991-2009. Clin Endocrinol (Oxf) 73:686-688
140. Nyunt O, Cotterill AM, Archbold SM, Wu JY, Leong GM, Verge CF, Crock PA, Ambler GR, Hofman P, Harris M (2010) Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader-Willi syndrome. J Clin Endocrinol Metab 95:E464-E467
141. Farholt S, Sode-Carlsen R, Christiansen JS, Ostergaard JR, Hoybye C (2011) Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome. J Clin Endocrinol Metab 96:E173-E180
142. Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG (2013) Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency. Eur J Endocrinol 170:13-21
143. Melmet S, Jameson JL (2013) Disorders of the anterior pituitary and hypothalamus. In: Jameson JL (ed) Harrison's Endocrinology, 3rd edn. McGraw-Hill, New York, pp 16-49
144. Vaitukaitis JL, Dale SL, Melby JC (1969) Role of ACTH in the secretion of dehydroepiandrosterone and its sulfate ester in man. J Clin Endocrinol Metab 29:1443-1447
145. Rosenfeld RS, Hellman L, Gallagher TF (1972) Metabolism and interconversion of dehydroepiandrosterone and dehydroepiandrosterone sulfate. J Clin Endocrinol Metab 35:187-193
146. Voutilainen R, Jääskeläinen J (2015) Premature adrenarche: etiology, clinical findings, and consequences. J Steroid Biochem Mol Biol 145:226-236