{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:46:32Z","timestamp":1787021192202,"version":"build-2736575974"},"reference-count":149,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T00:00:00Z","timestamp":1663891200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Prader\u2013Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, dual-energy X-ray absorptiometry scans, and spinal X-rays and reviewed the current literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below \u22122.5) and 143 (54%) had osteopenia (T-score \u22121 to \u22122.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (P = .005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and nonvertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgac556","type":"journal-article","created":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T15:34:10Z","timestamp":1663947250000},"page":"59-84","source":"Crossref","is-referenced-by-count":20,"title":["Bone Health in Adults With Prader\u2013Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study"],"prefix":"10.1210","volume":"108","author":[{"given":"Denise H","family":"van Abswoude","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Dutch Center of Reference for Prader-Willi Syndrome , 3015 GD Rotterdam , The Netherlands"},{"name":"Academic Center for Growth Disorders, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0738-0275","authenticated-orcid":false,"given":"Karlijn","family":"Pellikaan","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Dutch Center of Reference for Prader-Willi Syndrome , 3015 GD Rotterdam , The Netherlands"},{"name":"Academic Center for Growth Disorders, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8333-1512","authenticated-orcid":false,"given":"Anna G W","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Dutch Center of Reference for Prader-Willi Syndrome , 3015 GD Rotterdam , The Netherlands"},{"name":"Academic Center for Growth Disorders, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten","family":"Davidse","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Dutch Center of Reference for Prader-Willi Syndrome , 3015 GD Rotterdam , The Netherlands"},{"name":"Academic Center for Growth Disorders, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Coupaye","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Rare Diseases Center of reference \u2018Prader-Willi Syndrome and obesity with eating disorders\u2019 (PRADORT), Nutrition Department, Institute of Cardiometabolism and Nutrition, ICAN, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne Universit\u00e9, INSERM , Nutriomics, F75013 Paris , France"},{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"H\u00f8ybye","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"ENDO-ERN (European Reference Network)"},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute and Karolinska University Hospital , Stockholm , Sweden"},{"name":"Department of Endocrinology, Karolinska Institute and Karolinska University Hospital , Stockholm , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania P","family":"Markovic","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"Metabolism & Obesity Services, Royal Prince Alfred Hospital , Camperdown , Australia"},{"name":"Boden Initiative, Charles Perkins Centre, University of Sydney , Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziano","family":"Grugni","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"ENDO-ERN (European Reference Network)"},{"name":"Divison of Auxology, Istituto Auxologico Italiano, IRCCS , Piancavallo (VB) , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonino","family":"Crin\u00f2","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"Reference Center for Prader-Willi syndrome, Bambino Ges\u00f9 Hospital, Research Institute , Palidoro (Rome) , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Assumpta","family":"Caix\u00e0s","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"Department of Endocrinology and Nutrition, Hospital Universitari Parc Taul\u00ed, Institut d\u2019Investigaci\u00f3 i Innovaci\u00f3 Parc Taul\u00ed (I3PT), Universitat Aut\u00f2noma de Barcelona , Sabadell , Spain"},{"name":"Department of Medicine, Universitat Aut\u00f2noma de Barcelona , Sabadell , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7769-6331","authenticated-orcid":false,"given":"Christine","family":"Poitou","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Rare Diseases Center of reference \u2018Prader-Willi Syndrome and obesity with eating disorders\u2019 (PRADORT), Nutrition Department, Institute of Cardiometabolism and Nutrition, ICAN, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne Universit\u00e9, INSERM , Nutriomics, F75013 Paris , France"},{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"ENDO-ERN (European Reference Network)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Mosbah","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Rare Diseases Center of reference \u2018Prader-Willi Syndrome and obesity with eating disorders\u2019 (PRADORT), Nutrition Department, Institute of Cardiometabolism and Nutrition, ICAN, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne Universit\u00e9, INSERM , Nutriomics, F75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa","family":"Weir","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Nepean-Blue Mountains Hospital , Sydney, NSW , Australia"},{"name":"Northern Clinical School, Faculty of Medicine and Health, University of Sydney , Sydney, NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo A","family":"van Vlimmeren","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation and Pediatric Physical Therapy, Radboud University Medical Centrum , 6525 GA Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost P H J","family":"Rutges","sequence":"additional","affiliation":[{"name":"Department of Orthopedic surgery, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luuk W L","family":"De Klerk","sequence":"additional","affiliation":[{"name":"Department of Orthopedic surgery, Sint Maartensclinic , 6500 GM Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Carola","family":"Zillikens","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"ENDO-ERN (European Reference Network)"},{"name":"Academic Center for Rare Bone Disorders, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"European Reference Network for rare bone diseases (ERN BOND)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aart J","family":"van der Lely","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The 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":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Dutch Center of Reference for Prader-Willi Syndrome , 3015 GD Rotterdam , The Netherlands"},{"name":"Academic Center for Growth Disorders, Erasmus Medical 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