{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T02:58:35Z","timestamp":1789441115170,"version":"build-2803163510"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,1,8]],"date-time":"2018-01-08T00:00:00Z","timestamp":1515369600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>Endocrine abnormalities in Williams\u2013Beuren syndrome (<jats:styled-content style=\"fixed-case\">WBS<\/jats:styled-content>) include growth retardation, precocious puberty, hypercalcaemia and thyroid disorders. We aimed to characterise these abnormalities in a national cohort of children with <jats:styled-content style=\"fixed-case\">WBS<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective study comprising a national cohort of individuals with <jats:styled-content style=\"fixed-case\">WBS<\/jats:styled-content> in Israel (16 males, 18 females) followed between 2010 and 2016.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The age at diagnosis of <jats:styled-content style=\"fixed-case\">WBS<\/jats:styled-content> was 1.4\u00a0\u00b1\u00a01.0\u00a0years. Height standard deviation score (<jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>) at last visit was correlated with the midparental height <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> (r\u00a0=\u00a00.46 p\u00a0=\u00a00.007). Yet, participants did not reach their midparental height, with a difference of 1.40\u00a0\u00b1\u00a00.85<jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content> (p\u00a0&lt;\u00a00.001). Short stature below the 3rd percentile was found in 14 participants (41%). Mean insulin\u2010like growth factor 1 <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> was low (\u22120.61\u00a0\u00b1\u00a01.64) and was correlated with the mean height <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> (r\u00a0=\u00a00.63 p\u00a0=\u00a00.038). Two participants were diagnosed with growth hormone deficiency, and initiation of growth hormone treatment improved their height velocity. A total of eight participants (23.5%) had mild hypercalcaemia, five girls (14.7%) had precocious puberty and five participants (14.7%) had thyroid abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Individuals with <jats:styled-content style=\"fixed-case\">WBS<\/jats:styled-content> had a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low\u2010normal range. Precocious puberty, hypercalcaemia and thyroid abnormalities should be screened for and treated as needed.<\/jats:p><\/jats:sec>","DOI":"10.1111\/apa.14198","type":"journal-article","created":{"date-parts":[[2017,12,22]],"date-time":"2017-12-22T12:45:12Z","timestamp":1513946712000},"page":"678-684","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Endocrine manifestations in children with Williams\u2013Beuren syndrome"],"prefix":"10.1111","volume":"107","author":[{"given":"Yael","family":"Levy\u2010Shraga","sequence":"first","affiliation":[{"name":"Paediatric Endocrinology and Diabetes Unit The Edmond and Lilly Safra Children's Hospital Sheba Medical Center Ramat Gan Israel"},{"name":"The Sackler School of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doron","family":"Gothelf","sequence":"additional","affiliation":[{"name":"The Sackler School 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