{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T23:06:44Z","timestamp":1791241604459,"version":"4.1.0"},"reference-count":75,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T00:00:00Z","timestamp":1599004800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Prader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hyperphagia, hypotonia, intellectual disability, and pituitary hormone deficiencies. Annual mortality of patients with PWS is high (3%). In half of the patients, the cause of death is obesity related and\/or of cardiopulmonary origin. Health problems leading to this increased mortality often remain undetected due to the complexity and rareness of the syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To assess the prevalence of health problems in adults with PWS retrospectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients, Design, and Setting<\/jats:title>\n                    <jats:p>We systematically screened 115 PWS adults for undiagnosed health problems. All patients visited the multidisciplinary outpatient clinic for rare endocrine syndromes at the Erasmus University Medical Center, Rotterdam, Netherlands. We collected the results of medical questionnaires, interviews, physical examinations, biochemical measurements, polygraphy, polysomnography, and radiology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main outcome measures<\/jats:title>\n                    <jats:p>Presence or absence of endocrine and nonendocrine comorbidities in relation to living situation, body mass index, genotype, and demographic factors.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Seventy patients (61%) had undiagnosed health problems, while 1 in every 4 patients had multiple undiagnosed health problems simultaneously. All males and 93% of females had hypogonadism, 74% had scoliosis, 18% had hypertension, 19% had hypercholesterolemia, 17% had type 2 diabetes mellitus, and 17% had hypothyroidism. Unfavorable lifestyles were common: 22% exercised too little (according to PWS criteria) and 37% did not see a dietitian.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Systematic screening revealed many undiagnosed health problems in PWS adults. Based on patient characteristics, we provide an algorithm for diagnostics and treatment, with the aim to prevent early complications and reduce mortality in this vulnerable patient group.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa621","type":"journal-article","created":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T16:01:19Z","timestamp":1599062479000},"page":"e4671-e4687","source":"Crossref","is-referenced-by-count":53,"title":["Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment"],"prefix":"10.1210","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0738-0275","authenticated-orcid":false,"given":"Karlijn","family":"Pellikaan","sequence":"first","affiliation":[{"name":"Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, GD Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna G W","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, GD Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja A","family":"Kattentidt-Mouravieva","sequence":"additional","affiliation":[{"name":"Stichting Zuidwester, LB Middelharnis, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rogier","family":"Kersseboom","sequence":"additional","affiliation":[{"name":"Stichting Zuidwester, LB Middelharnis, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja G","family":"Bos-Roubos","sequence":"additional","affiliation":[{"name":"Vincent van Gogh, Center of Excellence for Neuropsychiatry, DN Venray, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 M C","family":"Veen-Roelofs","sequence":"additional","affiliation":[{"name":"\u2018s Heeren Loo, Care Providing Agency, SC Wekerom, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"van Wieringen","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy, Erasmus MC, University Medical Center Rotterdam, GD Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franciska M E","family":"Hoekstra","sequence":"additional","affiliation":[{"name":"Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, GD Rotterdam, Netherlands"},{"name":"Department of Internal Medicine, Reinier de Graaf Hospital, AD Delft, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sjoerd A A","family":"van den Berg","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Erasmus MC, University Medical Center Rotterdam, GD Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aart Jan","family":"van der Lely","sequence":"additional","affiliation":[{"name":"Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, GD Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0295-7063","authenticated-orcid":false,"given":"Laura C G","family":"de Graaff","sequence":"additional","affiliation":[{"name":"Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, GD Rotterdam, Netherlands"},{"name":"Academic Center for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, GD Rotterdam, Netherlands"},{"name":"Dutch Center of Reference for Prader-Willi Syndrome, GD Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2020,9,2]]},"reference":[{"issue":"3","key":"2021122106261187400_CIT0001","doi-asserted-by":"crossref","first-page":"126","DOI":"10.6065\/apem.2016.21.3.126","article-title":"Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome","volume":"21","author":"Cheon","year":"2016","journal-title":"Ann Pediatr Endocrinol Metab."},{"issue":"1","key":"2021122106261187400_CIT0002","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/ejhg.2008.165","article-title":"Prader-Willi syndrome","volume":"17","author":"Cassidy","year":"2009","journal-title":"Eur J Hum Genet."},{"issue":"12","key":"2021122106261187400_CIT0003","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1007\/s40618-015-0312-9","article-title":"Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings","volume":"38","author":"Angulo","year":"2015","journal-title":"J Endocrinol Invest."},{"issue":"11","key":"2021122106261187400_CIT0004","doi-asserted-by":"crossref","first-page":"4183","DOI":"10.1210\/jc.2008-0649","article-title":"Recommendations for the diagnosis and management of Prader-Willi syndrome","volume":"93","author":"Goldstone","year":"2008","journal-title":"J Clin Endocrinol Metab."},{"issue":"11","key":"2021122106261187400_CIT0005","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1136\/jmg.34.11.917","article-title":"Prader-Willi syndrome","volume":"34","author":"Cassidy","year":"1997","journal-title":"J Med Genet."},{"issue":"2","key":"2021122106261187400_CIT0006","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1542\/peds.91.2.398","article-title":"Prader-Willi syndrome: consensus diagnostic criteria","volume":"91","author":"Holm","year":"1993","journal-title":"Pediatrics."},{"issue":"11","key":"2021122106261187400_CIT0007","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1136\/jmg.38.11.792","article-title":"Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region","volume":"38","author":"Whittington","year":"2001","journal-title":"J Med Genet."},{"issue":"6","key":"2021122106261187400_CIT0008","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/gim.2016.178","article-title":"Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey","volume":"19","author":"Butler","year":"2017","journal-title":"Genet Med."},{"issue":"8","key":"2021122106261187400_CIT0009","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.2105\/AJPH.2016.303240","article-title":"Mortality among adults with intellectual disability in England: comparisons with the general population","volume":"106","author":"Hosking","year":"2016","journal-title":"Am J Public Health."},{"issue":"1","key":"2021122106261187400_CIT0010","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1186\/s13023-019-1214-2","article-title":"Causes of death in Prader-Willi syndrome: lessons from 11 years\u2019 experience of a national reference center","volume":"14","author":"Pacoricona Alfaro","year":"2019","journal-title":"Orphanet J Rare Dis."},{"issue":"2","key":"2021122106261187400_CIT0011","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1002\/ajmg.a.60688","article-title":"Contributing factors of mortality in Prader-Willi syndrome","volume":"179","author":"Proffitt","year":"2019","journal-title":"Am J Med Genet A."},{"issue":"2","key":"2021122106261187400_CIT0012","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S0026-0495(98)90003-8","article-title":"Energy expenditure and body composition in Prader-Willi syndrome","volume":"37","author":"Schoeller","year":"1988","journal-title":"Metabolism."},{"issue":"1","key":"2021122106261187400_CIT0013","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1038\/gim.0b013e31822bead0","article-title":"Prader-Willi syndrome","volume":"14","author":"Cassidy","year":"2012","journal-title":"Genet Med."},{"issue":"1","key":"2021122106261187400_CIT0014","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.nefro.2016.04.009","article-title":"Hypogonadism associated with muscle atrophy, physical inactivity and ESA hyporesponsiveness in men undergoing haemodialysis","volume":"37","author":"Cobo","year":"2017","journal-title":"Nefrologia."},{"issue":"3","key":"2021122106261187400_CIT0015","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1079\/PNS2003282","article-title":"Physical activity and resting metabolic rate","volume":"62","author":"Speakman","year":"2003","journal-title":"Proc Nutr Soc."},{"issue":"6","key":"2021122106261187400_CIT0016","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1111\/cen.13958","article-title":"Prevalence of low lean mass in patients with adult growth hormone deficiency with or without low-dose growth hormone therapy","volume":"90","author":"Zheng","year":"2019","journal-title":"Clin Endocrinol (Oxf)."},{"key":"2021122106261187400_CIT0017","doi-asserted-by":"crossref","first-page":"33","DOI":"10.3389\/fendo.2020.00033","article-title":"Growth hormone(s), testosterone, insulin-like growth factors, and cortisol: roles and integration for cellular development and growth with exercise","volume":"11","author":"Kraemer","year":"2020","journal-title":"Front Endocrinol (Lausanne)."},{"issue":"6","key":"2021122106261187400_CIT0018","first-page":"1001","article-title":"Effect of muscle mass decrease on age-related BMR changes","volume":"43","author":"Tzankoff","year":"1977","journal-title":"J Appl Physiol Respir Environ Exerc Physiol."},{"issue":"3","key":"2021122106261187400_CIT0019","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1067\/S0022-3476(03)00386-X","article-title":"Decreased energy expenditure is caused by abnormal body composition in infants with Prader-Willi Syndrome","volume":"143","author":"Bekx","year":"2003","journal-title":"J Pediatr."},{"issue":"7","key":"2021122106261187400_CIT0020","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1210\/js.2018-00423","article-title":"Thyroid hormone action and energy expenditure","volume":"3","author":"Yavuz","year":"2019","journal-title":"J Endocr Soc."},{"issue":"4","key":"2021122106261187400_CIT0021","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1038\/nrendo.2013.238","article-title":"Thyroid hormones and skeletal muscle\u2013new insights and potential implications","volume":"10","author":"Salvatore","year":"2014","journal-title":"Nat Rev Endocrinol."},{"issue":"5","key":"2021122106261187400_CIT0022","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1002\/ajmg.a.31507","article-title":"Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects","volume":"143A","author":"Butler","year":"2007","journal-title":"Am J Med Genet A."},{"key":"2021122106261187400_CIT0023","volume-title":"Dietary Guidelines Advisory Committee. Dietary Guidelines for Americans","author":"United States. Department of Health and Human Services., United States. Department of Agriculture., United States","year":"2005","edition":"6"},{"issue":"8","key":"2021122106261187400_CIT0024","doi-asserted-by":"crossref","first-page":"396","DOI":"10.4103\/1947-2714.139291","article-title":"Correction of low vitamin D improves fatigue: effect of correction of low vitamin D in fatigue study (EViDiF Study)","volume":"6","author":"Roy","year":"2014","journal-title":"N Am J Med Sci."},{"issue":"52","key":"2021122106261187400_CIT0025","doi-asserted-by":"crossref","first-page":"e5353","DOI":"10.1097\/MD.0000000000005353","article-title":"Effect of vitamin D3 on self-perceived fatigue: a double-blind randomized placebo-controlled trial","volume":"95","author":"Nowak","year":"2016","journal-title":"Medicine (Baltimore)."},{"issue":"1","key":"2021122106261187400_CIT0026","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s13167-019-00191-0","article-title":"Vitamin D deficiency and its association with fatigue and quality of life in multiple sclerosis patients","volume":"11","author":"Beckmann","year":"2020","journal-title":"Epma J."},{"issue":"10101","key":"2021122106261187400_CIT0027","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1016\/S0140-6736(17)30703-1","article-title":"Hypothyroidism","volume":"390","author":"Chaker","year":"2017","journal-title":"Lancet."},{"key":"2021122106261187400_CIT0028","first-page":"31","article-title":"Endocrinology update: testicular hypogonadism","volume":"451","author":"Heidelbaugh","year":"2016","journal-title":"FP Essent."},{"issue":"2","key":"2021122106261187400_CIT0029","first-page":"310","article-title":"Vitamin D deficiency and the clinical consequences","volume":"119","author":"Galesanu","year":"2015","journal-title":"Rev Med Chir Soc Med Nat Iasi."},{"issue":"13","key":"2021122106261187400_CIT0030","doi-asserted-by":"crossref","first-page":"e262","DOI":"10.1161\/CIR.0000000000000440","article-title":"Sedentary behavior and cardiovascular morbidity and mortality: a science advisory from the American Heart Association","volume":"134","author":"Young","year":"2016","journal-title":"Circulation."},{"issue":"2","key":"2021122106261187400_CIT0031","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1086\/679995","article-title":"Pulmonary hypertension in obstructive sleep apnea: Is it clinically significant? A critical analysis of the association and pathophysiology","volume":"5","author":"Kholdani","year":"2015","journal-title":"Pulm Circ."},{"issue":"3","key":"2021122106261187400_CIT0032","doi-asserted-by":"crossref","first-page":"779","DOI":"10.21037\/jtd.2017.03.21","article-title":"The prevalence of pulmonary hypertension in patients with obesity hypoventilation syndrome: a prospective observational study","volume":"9","author":"Almeneessier","year":"2017","journal-title":"J Thorac Dis."},{"issue":"5","key":"2021122106261187400_CIT0033","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1111\/crj.12754","article-title":"Prevalence of comorbidities in patients with obstructive sleep apnea syndrome, overlap syndrome and obesity hypoventilation syndrome","volume":"12","author":"Lacedonia","year":"2018","journal-title":"Clin Respir J."},{"issue":"3","key":"2021122106261187400_CIT0034","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1378\/chest.09-0360","article-title":"Interactions between obesity and obstructive sleep apnea: implications for treatment","volume":"137","author":"Romero-Corral","year":"2010","journal-title":"Chest."},{"issue":"12","key":"2021122106261187400_CIT0035","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1161\/CIRCRESAHA.118.310783","article-title":"Sleep apnea and cardiovascular disease: an enigmatic risk factor","volume":"122","author":"Floras","year":"2018","journal-title":"Circ Res."},{"issue":"6","key":"2021122106261187400_CIT0036","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1590\/s1806-37562017000000332","article-title":"Obesity hypoventilation syndrome: a current review","volume":"44","author":"Athayde","year":"2018","journal-title":"J Bras Pneumol."},{"issue":"19","key":"2021122106261187400_CIT0037","doi-asserted-by":"crossref","first-page":"1840","DOI":"10.1161\/CIRCULATIONAHA.117.029400","article-title":"Sleep apnea and cardiovascular disease: lessons from recent trials and need for team science","volume":"136","author":"Drager","year":"2017","journal-title":"Circulation."},{"issue":"2","key":"2021122106261187400_CIT0038","doi-asserted-by":"crossref","first-page":"e0117808","DOI":"10.1371\/journal.pone.0117808","article-title":"Obesity-hypoventilation syndrome: increased risk of death over sleep apnea syndrome","volume":"10","author":"Castro-A\u00f1\u00f3n","year":"2015","journal-title":"Plos One."},{"issue":"3","key":"2021122106261187400_CIT0039","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/S0095-4543(21)00350-X","article-title":"Stress and hypertension","volume":"18","author":"Boone","year":"1991","journal-title":"Prim Care."},{"issue":"20","key":"2021122106261187400_CIT0040","doi-asserted-by":"crossref","first-page":"2346","DOI":"10.1016\/j.jacc.2018.03.458","article-title":"Psychopharmacology and cardiovascular disease","volume":"71","author":"Pi\u00f1a","year":"2018","journal-title":"J Am Coll Cardiol."},{"issue":"9","key":"2021122106261187400_CIT0041","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1111\/jir.12288","article-title":"Economic burden and health-related quality of life associated with Prader-Willi syndrome in France","volume":"60","author":"Chevreul","year":"2016","journal-title":"J Intellect Disabil Res."},{"issue":"Pt 1","key":"2021122106261187400_CIT0042","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1365-2788.2005.00770.x","article-title":"A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia","volume":"50","author":"Thomson","year":"2006","journal-title":"J Intellect Disabil Res."},{"issue":"9","key":"2021122106261187400_CIT0043","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1002\/ajmg.a.34171","article-title":"Physical health problems in adults with Prader-Willi syndrome","volume":"155A","author":"Sinnema","year":"2011","journal-title":"Am J Med Genet A."},{"issue":"5","key":"2021122106261187400_CIT0044","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1111\/jir.12140","article-title":"Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in France","volume":"59","author":"Laurier","year":"2015","journal-title":"J Intellect Disabil Res."},{"issue":"12","key":"2021122106261187400_CIT0045","doi-asserted-by":"crossref","first-page":"4895","DOI":"10.1210\/jc.2016-2163","article-title":"Effect of genotype and previous GH treatment on adiposity in adults with Prader-Willi syndrome","volume":"101","author":"Coupaye","year":"2016","journal-title":"J Clin Endocrinol Metab."},{"key":"2021122106261187400_CIT0046","doi-asserted-by":"crossref","first-page":"S81","DOI":"10.1016\/S1096-6374(00)80015-5","article-title":"Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion","volume":"10 Suppl B","author":"Partsch","year":"2000","journal-title":"Growth Horm IGF Res."},{"issue":"8","key":"2021122106261187400_CIT0047","doi-asserted-by":"crossref","first-page":"3590","DOI":"10.1210\/jcem.87.8.8735","article-title":"Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity","volume":"87","author":"H\u00f6ybye","year":"2002","journal-title":"J Clin Endocrinol Metab."},{"issue":"6","key":"2021122106261187400_CIT0048","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1159\/000323442","article-title":"The GH\/IGF-I axis and pituitary function and size in adults with Prader-Willi syndrome","volume":"75","author":"van Nieuwpoort","year":"2011","journal-title":"Horm Res Paediatr."},{"issue":"11","key":"2021122106261187400_CIT0049","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1016\/j.numecd.2012.11.006","article-title":"Metabolic syndrome in adult patients with Prader-Willi syndrome","volume":"23","author":"Grugni","year":"2013","journal-title":"Nutr Metab Cardiovasc Dis."},{"issue":"10","key":"2021122106261187400_CIT0050","doi-asserted-by":"crossref","first-page":"5639","DOI":"10.1210\/jc.2005-0829","article-title":"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","volume":"90","author":"Marzullo","year":"2005","journal-title":"J Clin Endocrinol Metab."},{"issue":"3","key":"2021122106261187400_CIT0051","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1136\/adc.56.3.181","article-title":"Prader-Willi syndrome after age 15 years","volume":"56","author":"Laurance","year":"1981","journal-title":"Arch Dis Child."},{"issue":"2","key":"2021122106261187400_CIT0052","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1469-8749.1987.tb02129.x","article-title":"Adults with Prader-Willi syndrome: a survey of 232 cases","volume":"29","author":"Greenswag","year":"1987","journal-title":"Dev Med Child Neurol."},{"issue":"4","key":"2021122106261187400_CIT0053","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1017\/S001216220100202X","article-title":"Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study","volume":"44","author":"Butler","year":"2002","journal-title":"Dev Med Child Neurol."},{"issue":"4","key":"2021122106261187400_CIT0054","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1093\/sleep\/16.4.366","article-title":"Sleep and breathing patterns in patients with Prader Willi syndrome (PWS): effects of age and gender","volume":"16","author":"Hertz","year":"1993","journal-title":"Sleep."},{"issue":"3","key":"2021122106261187400_CIT0055","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1111\/j.1365-2273.1994.tb01213.x","article-title":"The upper airway and sleep apnoea in the Prader-Willi syndrome","volume":"19","author":"Richards","year":"1994","journal-title":"Clin Otolaryngol Allied Sci."},{"issue":"3","key":"2021122106261187400_CIT0056","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1159\/000232489","article-title":"Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome","volume":"72","author":"Eldar-Geva","year":"2009","journal-title":"Horm Res."},{"issue":"10","key":"2021122106261187400_CIT0057","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/j.spinee.2009.06.017","article-title":"Epidemiological aspects of scoliosis in a cohort of Japanese patients with Prader-Willi syndrome","volume":"9","author":"Nakamura","year":"2009","journal-title":"Spine J."},{"key":"2021122106261187400_CIT0058","doi-asserted-by":"crossref","first-page":"(1)","DOI":"10.1186\/s13633-018-0055-4","article-title":"Body composition, adipokines, bone mineral density and bone remodeling markers in relation to IGF-1 levels in adults with Prader-Willi syndrome","volume":"2018","author":"van Nieuwpoort","year":"2018","journal-title":"Int J Pediatr Endocrinol."},{"issue":"9","key":"2021122106261187400_CIT0059","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.numecd.2016.05.010","article-title":"Disorders of glucose metabolism in Prader-Willi syndrome: results of a multicenter Italian cohort study","volume":"26","author":"Fintini","year":"2016","journal-title":"Nutr Metab Cardiovasc Dis."},{"key":"2021122106261187400_CIT0060","doi-asserted-by":"crossref","DOI":"10.1093\/sleep\/zsx162","article-title":"Prevalence and phenotype of sleep disorders in 60 adults with prader\u2013Willi syndrome","volume":"40","author":"Ghergan","year":"2017","journal-title":"Sleep"},{"issue":"2","key":"2021122106261187400_CIT0061","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1515\/jpem-2018-0388","article-title":"Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients","volume":"32","author":"Iughetti","year":"2019","journal-title":"J Pediatr Endocrinol Metab."},{"issue":"2","key":"2021122106261187400_CIT0062","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.tem.2011.10.003","article-title":"Aromatase, breast cancer and obesity: a complex interaction","volume":"23","author":"Bulun","year":"2012","journal-title":"Trends Endocrinol Metab."},{"issue":"11","key":"2021122106261187400_CIT0063","doi-asserted-by":"crossref","first-page":"2587","DOI":"10.1093\/humrep\/dev213","article-title":"Sexual dichotomy of gonadal function in Prader-Willi syndrome from early infancy through the fourth decade","volume":"30","author":"Hirsch","year":"2015","journal-title":"Hum Reprod."},{"key":"2021122106261187400_CIT0064","article-title":"Supplementary data for: Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment RePub Erasmus University Reposittory 2020","author":"Pellikaan"},{"issue":"2","key":"2021122106261187400_CIT0065","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/ehf2.12235","article-title":"Low NT-proBNP levels in overweight and obese patients do not rule out a diagnosis of heart failure with preserved ejection fraction","volume":"5","author":"Buckley","year":"2018","journal-title":"ESC Heart Fail."},{"issue":"1","key":"2021122106261187400_CIT0066","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s10741-011-9249-z","article-title":"The paradox of low BNP levels in obesity","volume":"17","author":"Clerico","year":"2012","journal-title":"Heart Fail Rev."},{"issue":"4","key":"2021122106261187400_CIT0067","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ahj.2004.07.010","article-title":"Effect of body mass index on natriuretic peptide levels in patients with acute congestive heart failure: a ProBNP Investigation of Dyspnea in the Emergency Department (PRIDE) substudy","volume":"149","author":"Krauser","year":"2005","journal-title":"Am Heart J."},{"key":"2021122106261187400_CIT0068","doi-asserted-by":"crossref","DOI":"10.1210\/clinem\/dgaa168","article-title":"Central adrenal insufficiency is rare in adults with Prader-Willi syndrome","volume":"105","author":"Rosenberg","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2021122106261187400_CIT0069","doi-asserted-by":"crossref","first-page":"56","DOI":"10.3390\/diseases3020056","article-title":"Growth hormone therapy in adults with Prader-Willi syndrome","volume":"3","author":"Vogt","year":"2015","journal-title":"Diseases."},{"issue":"11","key":"2021122106261187400_CIT0070","doi-asserted-by":"crossref","first-page":"e0188650","DOI":"10.1371\/journal.pone.0188650","article-title":"Relative muscle mass and the risk of incident type 2 diabetes: A cohort study","volume":"12","author":"Hong","year":"2017","journal-title":"Plos One."},{"issue":"2","key":"2021122106261187400_CIT0071","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1038\/icb.2015.101","article-title":"Exercise and type 2 diabetes: focus on metabolism and inflammation","volume":"94","author":"Karstoft","year":"2016","journal-title":"Immunol Cell Biol."},{"issue":"4","key":"2021122106261187400_CIT0072","first-page":"254","article-title":"Vitamin D screening and supplementation in community-dwelling adults: common questions and answers","volume":"97","author":"LeFevre","year":"2018","journal-title":"Am Fam Physician."},{"issue":"4","key":"2021122106261187400_CIT0073","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.ecl.2017.07.005","article-title":"Vitamin D effect on bone mineral density and fractures","volume":"46","author":"Reid","year":"2017","journal-title":"Endocrinol Metab Clin North Am."},{"issue":"9912","key":"2021122106261187400_CIT0074","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/S0140-6736(13)61647-5","article-title":"Effects of vitamin D supplements on bone mineral density: a systematic review and meta-analysis","volume":"383","author":"Reid","year":"2014","journal-title":"Lancet."},{"issue":"12","key":"2021122106261187400_CIT0075","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1093\/nutrit\/nux059","article-title":"Noncalcemic adverse effects and withdrawals in randomized controlled trials of long-term vitamin D2 or D3 supplementation: a systematic review and meta-analysis","volume":"75","author":"Malihi","year":"2017","journal-title":"Nutr Rev."}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgaa621\/33708917\/dgaa621.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/105\/12\/e4671\/41829025\/dgaa621.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/105\/12\/e4671\/41829025\/dgaa621.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,21]],"date-time":"2021-12-21T01:29:08Z","timestamp":1640050148000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/105\/12\/e4671\/5900721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,2]]},"references-count":75,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,9,2]]},"published-print":{"date-parts":[[2020,12,1]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgaa621","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,12]]},"published":{"date-parts":[[2020,9,2]]}}}