{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T11:43:33Z","timestamp":1778499813927,"version":"3.51.4"},"reference-count":24,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,25]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"j_jpem-2018-0388_s_999_w2aab2b8c48b1b7b1aab1c16b1Aa\"><jats:title>Background<\/jats:title><jats:p>Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. The aim of our study was to report the thyroid function in patients with PWS to identify the prevalence of thyroid dysfunction.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0388_s_998_w2aab2b8c48b1b7b1aab1c16b2Aa\"><jats:title>Methods<\/jats:title><jats:p>Thyroid function tests were carried out in 339 patients with PWS, aged from 0.2 to 50 years. A database was created to collect personal data, anthropometric data, thyroid function data and possible replacement therapy with L-thyroxine. Subjects were classified according to thyroid function as: euthyroidism (EuT), congenital hypothyroidism (C-HT), hypothyroidism (HT \u2013 high thyroid-stimulating hormone [TSH] and low free thyroxine [fT4]), central hypothyroidism (CE-H \u2013 low\/normal TSH and low fT4), subclinical hypothyroidism (SH \u2013 high TSH and normal fT4), and hyperthyroidism (HyperT \u2013 low TSH and high fT4).<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0388_s_997_w2aab2b8c48b1b7b1aab1c16b3Aa\"><jats:title>Results<\/jats:title><jats:p>Two hundred and forty-three out of 339 PWS patients were younger than 18 years (71.7%). The prevalence of thyroid dysfunction was 13.6%. Specifically, C-HT was found in four children (1.18%), HT in six patients (1.77%), CE-H in 23 patients (6.78%), SH in 13 patients (3.83%), and HyperT in none. All other subjects were in EuT (86.4%).<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0388_s_996_w2aab2b8c48b1b7b1aab1c16b4Aa\"><jats:title>Conclusions<\/jats:title><jats:p>Hypothyroidism is a frequent feature in subjects with PWS. Thyroid function should be regularly investigated in all PWS patients both at the diagnosis and annually during follow-up.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0388","type":"journal-article","created":{"date-parts":[[2019,1,31]],"date-time":"2019-01-31T09:03:14Z","timestamp":1548925394000},"page":"159-165","source":"Crossref","is-referenced-by-count":42,"title":["Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients"],"prefix":"10.1515","volume":"32","author":[{"given":"Lorenzo","family":"Iughetti","sequence":"first","affiliation":[{"name":"Department of Medical and Surgical Sciences of Mother, Children and Adults , University of Modena and Reggio Emilia , Modena , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Vivi","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences of Mother, Children and Adults , University of Modena and Reggio Emilia , Modena , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Balsamo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University of Bologna , Bologna , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Corrias","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Regina Margherita Children\u2019s Hospital , Turin , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonino","family":"Crin\u00f2","sequence":"additional","affiliation":[{"name":"Autoimmune Endocrine Diseases Unit, Bambino Ges\u00f9 Children\u2019s Hospital, Research Institute , Rome , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Delvecchio","sequence":"additional","affiliation":[{"name":"Pediatric Unit, IRCCS Casa Sollievo della Sofferenza , San Giovanni Rotondo (Foggia) , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Gargantini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Civic Hospital , Treviglio (Bergamo) , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nella Augusta","family":"Greggio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University of Padova , Padova , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graziano","family":"Grugni","sequence":"additional","affiliation":[{"name":"Division of Auxology, Istituto Auxologico Italiano \u2013 IRCCS , Piancavallo (Verbania), Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uros","family":"Hladnik","sequence":"additional","affiliation":[{"name":"Genetics Unit, Mauro Baschirotto Institute for Rare Diseases-B.I.R.D. Foundation , Costozza di Longare (Vicenza) , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alba","family":"Pilotta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University of Brescia , Brescia , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Letizia","family":"Ragusa","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Oasi Maria SS, Research Institute , Troina (Enna) , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Salvatoni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University of Insubria , Varese , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata","family":"Wasniewska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University of Messina , Messina , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Weber","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Vita Salute San Raffaele University, San Raffaele Scientific Institute , Milan , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Predieri","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences of Mother, Children and Adults , University of Modena and Reggio Emilia , Modena , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,1,31]]},"reference":[{"key":"2023040100395059756_j_jpem-2018-0388_ref_001_w2aab2b8c48b1b7b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Cassidy SB, Driscoll DJ. 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