{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T03:27:38Z","timestamp":1782358058791,"version":"3.54.5"},"reference-count":93,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T00:00:00Z","timestamp":1629849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Prader\u2013Willi syndrome (PWS) is a complex genetic syndrome combining hypotonia, hyperphagia, a PWS-specific neurocognitive phenotype, and pituitary hormone deficiencies, including hypothyroidism. The low muscle mass associated with PWS causes a low energy expenditure due to a low basal metabolic rate. Combined with increased energy intake due to hyperphagia, this results in a high risk of obesity and associated cardiovascular disease. To reduce the high mortality in PWS (3% yearly), exercise is extremely important. As hypothyroidism can impair exercise tolerance, early detection is crucial. We performed a literature search for articles on hypothyroidism in PWS, measured thyroid hormone (TH) levels in 122 adults with PWS, and performed a medical file search for medication use. Hypothyroidism (low free thyroxin) was present in 17%, and often central in origin (80%). Triiodothyronine levels were lower in patients who used psychotropic drugs, while other TH levels were similar. One in six patients in our cohort of adults with PWS had hypothyroidism, which is more than in non-PWS adults (3%). We recommend yearly screening of free thyroxin and thyroid-stimulating hormone levels to avoid the negative effects of untreated hypothyroidism on basal metabolic rate, body mass index, and cardiovascular risk. Additionally, we recommend measuring TH concentrations 3\u20134 months after the start of growth hormone treatment.<\/jats:p>","DOI":"10.3390\/jcm10173804","type":"journal-article","created":{"date-parts":[[2021,8,26]],"date-time":"2021-08-26T00:19:26Z","timestamp":1629937166000},"page":"3804","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Thyroid Function in Adults with Prader\u2013Willi Syndrome; a Cohort Study and Literature Review"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0738-0275","authenticated-orcid":false,"given":"Karlijn","family":"Pellikaan","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Department of Internal Medicine, Division of Endocrinology, Center for Adults with Rare Genetic Syndromes, Erasmus Medical Center, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Dutch Center of Reference for Prader\u2013Willi Syndrome, 3015 GD Rotterdam, The Netherlands"},{"name":"Academic Centre for Growth Disorders, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fleur","family":"Snijders","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Department of Internal Medicine, Division of Endocrinology, Center for Adults with Rare Genetic Syndromes, Erasmus Medical Center, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Dutch Center of Reference for Prader\u2013Willi Syndrome, 3015 GD Rotterdam, The Netherlands"},{"name":"Academic Centre for Growth Disorders, Erasmus Medical Center, University Medical Centre 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 Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Department of Internal Medicine, Division of Endocrinology, Center for Adults with Rare Genetic Syndromes, Erasmus Medical Center, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Dutch Center of Reference for Prader\u2013Willi Syndrome, 3015 GD Rotterdam, The Netherlands"},{"name":"Academic Centre for Growth Disorders, Erasmus Medical Center, University Medical Centre 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 Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Department of Internal Medicine, Division of Endocrinology, Center for Adults with Rare Genetic Syndromes, Erasmus Medical Center, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Dutch Center of Reference for Prader\u2013Willi Syndrome, 3015 GD Rotterdam, The Netherlands"},{"name":"Academic Centre for Growth Disorders, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sjoerd A. A.","family":"van den Berg","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Department of Clinical Chemistry, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. Edward","family":"Visser","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1059-0126","authenticated-orcid":false,"given":"Aart J.","family":"van der Lely","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura C. G.","family":"de Graaff","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Department of Internal Medicine, Division of Endocrinology, Center for Adults with Rare Genetic Syndromes, Erasmus Medical Center, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands"},{"name":"Dutch Center of Reference for Prader\u2013Willi Syndrome, 3015 GD Rotterdam, The Netherlands"},{"name":"Academic Centre for Growth Disorders, Erasmus Medical Center, University Medical Centre Rotterdam, 3015 GD Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,25]]},"reference":[{"key":"ref_1","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. 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