Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

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dc.contributor.authorYeşilkaya, Ediz
dc.contributor.authorBereket, Abdullah
dc.contributor.authorDarendeliler, Feyza
dc.contributor.authorBaş, Firdevs
dc.contributor.authorPoyrazoğlu, Şükran
dc.contributor.authorAydın, Banu Küçükemre
dc.contributor.authorBondy, Carolyn
dc.date.accessioned2020-04-30T23:46:50Z
dc.date.available2020-04-30T23:46:50Z
dc.date.issued2015
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionHatun, Sukru/0000-0003-1633-9570; Turan, Serap/0000-0002-5172-5402; Gurbuz, Fatih/0000-0003-2160-9838; ABALI, SAYGIN/0000-0001-6552-2801; Buyukinan, Muammer/0000-0002-2937-823X; Abaci, Ayhan/0000-0002-1812-0321; binay, cigdem/0000-0002-7749-8818; Ozgen, Ilker Tolga/0000-0001-6592-9652; ozkan, Behzat/0000-0002-9153-8409; Demir, Korcan/0000-0002-8334-2422; yuksel, bilgin/0000-0003-4378-3255; Eren, Erdal/0000-0002-1684-1053en_US
dc.descriptionWOS: 000351307200005en_US
dc.descriptionPubMed: 25800473en_US
dc.description.abstractObjective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.en_US
dc.identifier.doi10.4274/jcrpe.1771en_US
dc.identifier.endpage36en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue1en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage27en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.1771
dc.identifier.urihttps://hdl.handle.net/20.500.12684/5285
dc.identifier.volume7en_US
dc.identifier.wosWOS:000351307200005en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal Of Clinical Research In Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectNationwide studyen_US
dc.subjectTurner syndromeen_US
dc.subjectchildrenen_US
dc.subjectdiagnostic featuresen_US
dc.subjectassociated problemsen_US
dc.titleTurner Syndrome and Associated Problems in Turkish Children: A Multicenter Studyen_US
dc.typeArticleen_US

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