{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T16:14:40Z","timestamp":1780071280315,"version":"3.54.0"},"reference-count":68,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Endocrine evaluation and long-term follow-up of seven (six male) patients with Williams-Beuren syndrome (WBS) are given.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method:<\/jats:title><jats:p>Data were obtained from patients\u2019 medical records. All patients underwent hormonal analyses and four of them underwent oral glucose tolerance test (OGTT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>They all had mild hypercalcemia. Three of them had overt hypothyroidism while subclinical hypothyroidism was detected in three patients. Four patients had thyroid hypoplasia and one had thyroid agenesis. Growth hormone deficiency (GHD) was determined in one patient. Impaired glucose tolerance (IGT) was found in three adolescents. All adolescents had early-onset puberty. The follow-up duration was 5.7\u00b12.1 years. The mean growth velocity (GV) was 12.9\u00b17.2 cm and 7.6\u00b12 cm at the end of the first and second years of therapy, respectively. All patients had neurodevelopment retardation and were continuing to special education.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Thyroid hypoplasia is common and agenesis can be seen in patients with WBS; therefore, thyroid hormones should be measured in the newborn period and annually. GHD should be kept in mind in patients with decreased GV. IGT might be detected in patients with WBS even in adolescence.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2016-0039","type":"journal-article","created":{"date-parts":[[2017,1,13]],"date-time":"2017-01-13T10:01:38Z","timestamp":1484301698000},"source":"Crossref","is-referenced-by-count":7,"title":["Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up"],"prefix":"10.1515","volume":"30","author":[{"given":"Ayla","family":"G\u00fcven","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref321","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ajmg.c.30261","article-title":"High prevalence of diabetes and pre-diabetes in adults with Williams syndrome","volume":"154C","year":"2010","journal-title":"Am J Med Genet Part C Semin Med Genet"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/S0022-3476(99)70376-8","article-title":"Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome","volume":"134","year":"1999","journal-title":"J Pediatr"},{"key":"ref621","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1067\/mpd.2002.127280","article-title":"Central precocious puberty in girls with Williams syndrome","volume":"141","year":"2002","journal-title":"J Pediatr"},{"key":"ref731","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1507\/endocrj.K07E-110","article-title":"ChREBP: a glucose-activated transcription factor involved in the development of metabolic syndrome","volume":"55","year":"2008","journal-title":"Endocr J"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/S0022-3476(99)70376-8","article-title":"Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome","volume":"134","year":"1999","journal-title":"J Pediatr"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1007\/BF00280883","article-title":"Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man","volume":"28","year":"1985","journal-title":"Diabetologia"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.2337\/diacare.22.9.1462","article-title":"Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp","volume":"22","year":"1999","journal-title":"Diabetes Care"},{"key":"ref301","first-page":"255","article-title":"Multisystem study of 20 older adults with Williams syndrome","volume":"131","year":"2004","journal-title":"Am J Med Genet A"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.jpeds.2006.10.060","article-title":"Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome","volume":"150","year":"2007","journal-title":"J Pediatr"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1007\/s004310051118","article-title":"Growth hormone treatment in a child with Williams-Beuren syndrome: a case report","volume":"158","year":"1999","journal-title":"Eur J Pediatr"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.2337\/diabetes.54.9.2744","article-title":"Transgenic mouse overexpressing syntaxin-1A as a diabetes model","volume":"54","year":"2005","journal-title":"Diabetes"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<491::AID-AJMG11>3.0.CO;2-Z","article-title":"Thyroid hemiagenesis and elevated thyrotropin levels in child with Williams syndrome","volume":"85","year":"1999","journal-title":"Am J Med Genet"},{"key":"ref651","first-page":"205","article-title":"Growth hormone deficiency in a child with Williams-Beuren syndrome. 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