Turner syndrome and associated problems in turkish children: A multicenter study

Simple item page
dc.contributor.authorYeşilkaya E.
dc.contributor.authorBereket A.
dc.contributor.authorDarendeliler F.
dc.contributor.authorBaş F.
dc.contributor.authorPoyrazoğlu Ş.
dc.contributor.authorAydın B.K.
dc.contributor.authorDarcan Ş.
dc.contributor.authorDündar B.
dc.contributor.authorBüyükinan M.
dc.contributor.authorKara C.
dc.contributor.authorSarı E.
dc.contributor.authorAdal E.
dc.contributor.authorAkıncı A.
dc.contributor.authorAtabek M.E.
dc.contributor.authorDemirel F.
dc.contributor.authorÇelik N.
dc.contributor.authorÖzkan B.
dc.contributor.authorÖzhan B.
dc.contributor.authorOrbak Z.
dc.contributor.authorErsoy B.
dc.contributor.authorDoğan M.
dc.contributor.authorAtaş A.
dc.contributor.authorTuran S.
dc.contributor.authorGökşen D.
dc.contributor.authorTarım Ö.
dc.contributor.authorYüksel B.
dc.contributor.authorErcan O.
dc.contributor.authorHatun Ş.
dc.contributor.authorŞimşek E.
dc.contributor.authorÖkten A.
dc.contributor.authorAbacı A.
dc.contributor.authorDöneray H.
dc.contributor.authorÖzbek M.N.
dc.contributor.authorKeskin M.
dc.contributor.authorÖnal H.
dc.contributor.authorAkyürek N.
dc.contributor.authorBulan K.
dc.contributor.authorTepe D.
dc.contributor.authorEmeksiz H.C.
dc.contributor.authorDemir K.
dc.contributor.authorKızılay D.
dc.contributor.authorTopaloğlu A.K.
dc.contributor.authorEren E.
dc.contributor.authorÖzen S.
dc.contributor.authorAbalı S.
dc.contributor.authorAkın L.
dc.contributor.authorEklioğlu B.S.
dc.contributor.authorKaba S.
dc.contributor.authorAnık A.
dc.contributor.authorBaş S.
dc.contributor.authorÜnüvar T.
dc.contributor.authorSağlam H.
dc.contributor.authorBolu S.
dc.contributor.authorÖzgen T.
dc.contributor.authorDoğan D.
dc.contributor.authorÇakır E.D.
dc.contributor.authorŞen Y.
dc.contributor.authorAndıran N.
dc.contributor.authorÇizmecioğlu F.
dc.contributor.authorEvliyaoğlu O.
dc.contributor.authorKaragüzel G.
dc.contributor.authorPirgon Ö.
dc.contributor.authorÇatlı G.
dc.contributor.authorCan H.D.
dc.contributor.authorGürbüz F.
dc.contributor.authorBinay Ç.
dc.contributor.authorBaş V.N.
dc.contributor.authorFidancı K.
dc.contributor.authorPolat A.
dc.contributor.authorGül D.
dc.contributor.authorAçıkel C.
dc.contributor.authorDemirbilek H.
dc.contributor.authorCinaz P.
dc.contributor.authorBondy C.
dc.date.accessioned2024-07-22T08:14:50Z
dc.date.available2024-07-22T08:14:50Z
dc.date.issued2015
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 stenosi) 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. © Journal of Clinical Research in Pediatric Endocrinology.
dc.identifier.DOI-ID10.4274/jcrpe.1771
dc.identifier.issn13085727
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/16661
dc.language.isoEnglish
dc.publisherGalenos Yayincilik,
dc.rightsAll Open Access; Gold Open Access
dc.subjectAdolescent
dc.subjectCase-Control Studies
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectComorbidity
dc.subjectFemale
dc.subjectFollow-Up Studies
dc.subjectHumans
dc.subjectInfant
dc.subjectInfant, Newborn
dc.subjectKaryotyping
dc.subjectPrevalence
dc.subjectPrognosis
dc.subjectRetrospective Studies
dc.subjectSurvival Rate
dc.subjectTurkey
dc.subjectTurner Syndrome
dc.subjectadolescent
dc.subjectadult
dc.subjectArticle
dc.subjectcardiovascular disease
dc.subjectchild
dc.subjectclinical evaluation
dc.subjectclinical feature
dc.subjectdelayed puberty
dc.subjectdisease association
dc.subjectdyslipidemia
dc.subjectgastrointestinal malformation
dc.subjectgenetic analysis
dc.subjecthuman
dc.subjectimpaired glucose tolerance
dc.subjectinfant
dc.subjectinsulin resistance
dc.subjectkaryotype
dc.subjectlearning disorder
dc.subjectmulticenter study
dc.subjectnewborn
dc.subjectosteoporosis
dc.subjectretrospective study
dc.subjectskin disease
dc.subjectthroat disease
dc.subjectTurner syndrome
dc.subjecturinary tract malformation
dc.subjectcase control study
dc.subjectclinical trial
dc.subjectcomorbidity
dc.subjectcomparative study
dc.subjectfemale
dc.subjectfollow up
dc.subjectgenetics
dc.subjectkaryotyping
dc.subjectpreschool child
dc.subjectprevalence
dc.subjectprognosis
dc.subjectsurvival rate
dc.subjectTurkey
dc.subjectTurner syndrome
dc.titleTurner syndrome and associated problems in turkish children: A multicenter study
dc.typeArticle

Files

Collections

Scopus Koleksiyonu