|
|
Turner syndrome and associated problems in turkish children: A multicenter study
|
|
|
|
|
نویسنده
|
yeşilkaya e. ,bereket a. ,darendeliler f. ,baş f. ,poyrazoğlu ş. ,aydın b.k. ,darcan ş. ,dündar b. ,büyükinan m. ,kara c. ,sarı e. ,adal e. ,akıncı a. ,atabek m.e. ,demirel f. ,çelik n. ,özkan b. ,özhan b. ,orbak z. ,ersoy b. ,doğan m. ,ataş a. ,turan s. ,gökşen d. ,tarım ö. ,yüksel b. ,ercan o. ,hatun ş. ,şimşek e. ,ökten a. ,abacı a. ,döneray h. ,özbek m.n. ,keskin m. ,önal h. ,akyürek n. ,bulan k. ,tepe d. ,emeksiz h.c. ,demir k. ,kızılay d. ,topaloğlu a.k. ,eren e. ,özen s. ,abalı s. ,akın l. ,eklioğlu b.s. ,kaba s. ,anık a. ,baş s. ,ünüvar t. ,sağlam h. ,bolu s. ,özgen t. ,doğan d. ,çakır e.d. ,şen y. ,andıran n. ,çizmecioğlu f. ,evliyaoğlu o. ,karagüzel g. ,pirgon ö. ,çatlı g. ,can h.d. ,gürbüz f. ,binay ç. ,baş v.n. ,fidancı k. ,polat a. ,gül d. ,açıkel c. ,demirbilek h. ,cinaz p. ,bondy c.
|
منبع
|
journal of clinical research in pediatric endocrinology - 2015 - دوره : 7 - شماره : 1 - صفحه:27 -36
|
چکیده
|
Objective: 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.
|
کلیدواژه
|
Associated problems; Children; Diagnostic features; Nationwide study; Turner syndrome
|
آدرس
|
gülhane military medicine academy,department of pediatric endocrinology, Turkey, marmara university,department of pediatric endocrinology, Turkey, istanbul university,department of pediatric endocrinology, Turkey, istanbul university,department of pediatric endocrinology, Turkey, istanbul university,department of pediatric endocrinology, Turkey, istanbul university,department of pediatric endocrinology, Turkey, ege university,department of pediatric endocrinology, Turkey, katip çelebi university,department of pediatric endocrinology, Turkey, konya training and research hospital,clinic of pediatric endocrinology, Turkey, ondokuz mayis university, Turkey, gülhane military medicine academy,department of pediatric endocrinology, Turkey, kanuni sultan süleyman training and research hospital,clinic of pediatric endocrinology, Turkey, inönü university,department of pediatric endocrinology, Turkey, necmettin erbakan university,department of pediatric endocrinology, Turkey, yıldırım beyazıt university,department of pediatric endocrinology, Turkey, gazi university,department of pediatric endocrinology, Turkey, dr. behçet uz children hospital,clinic of pediatric endocrinology, Turkey, pamukkale university,department of pediatric endocrinology, Turkey, atatürk university,department of pediatric endocrinology, Turkey, celal bayar university,department of pediatric endocrinology, Turkey, yüzüncü yıl university,department of pediatric endocrinology, Turkey, harran university,department of pediatric endocrinology, Turkey, marmara university,department of pediatric endocrinology, Turkey, ege university,department of pediatric endocrinology, Turkey, uludağ university,department of pediatric endocrinology, Turkey, çukurova university,department of pediatric endocrinology, Turkey, istanbul university,department of pediatric endocrinology, Turkey, kocaeli university,department of pediatric endocrinology, Turkey, osmangazi university,department of pediatric endocrinology, Turkey, karadeniz technical university,department of pediatric endocrinology, Turkey, dokuz eylül university,department of pediatric endocrinology, Turkey, atatürk university,department of pediatric endocrinology, Turkey, diyarbakır children state hospital,clinic of pediatric endocrinology, Turkey, gaziantep university,department of pediatric endocrinology, Turkey, kanuni sultan süleyman training and research hospital,clinic of pediatric endocrinology, Turkey, necmettin erbakan university,department of pediatric endocrinology, Turkey, yüzüncü yıl university,department of pediatric endocrinology, Turkey, yıldırım beyazıt university,department of pediatric endocrinology, Turkey, gazi university,department of pediatric endocrinology, Turkey, dr. behçet uz children hospital,clinic of pediatric endocrinology, Turkey, celal bayar university,department of pediatric endocrinology, Turkey, çukurova university,department of pediatric endocrinology, Turkey, uludağ university,department of pediatric endocrinology, Turkey, ege university,department of pediatric endocrinology, Turkey, marmara university,department of pediatric endocrinology, Turkey, kanuni sultan süleyman training and research hospital,clinic of pediatric endocrinology, Turkey, necmettin erbakan university,department of pediatric endocrinology, Turkey, yüzüncü yıl university,department of pediatric endocrinology, Turkey, dokuz eylül university,department of pediatric endocrinology, Turkey, marmara university,department of pediatric endocrinology, Turkey, kanuni sultan süleyman training and research hospital,clinic of pediatric endocrinology, Turkey, uludağ university,department of pediatric endocrinology, Turkey, düzce university,department of pediatric endocrinology, Turkey, kanuni sultan süleyman training and research hospital,clinic of pediatric endocrinology, Turkey, uludağ university,department of pediatric endocrinology, Turkey, uludağ university,department of pediatric endocrinology, Turkey, selçuk university,department of pediatric endocrinology, Turkey, yıldırım beyazıt university,department of pediatric endocrinology,ankara,turkey,keçiören training and research hospital,clinic of pediatric endocrinology, Turkey, kocaeli university,department of pediatric endocrinology, Turkey, istanbul university,department of pediatric endocrinology, Turkey, karadeniz technical university,department of pediatric endocrinology, Turkey, süleyman demirel university,department of pediatric endocrinology, Turkey, dokuz eylül university,department of pediatric endocrinology, Turkey, uludağ university,department of pediatric endocrinology, Turkey, çukurova university,department of pediatric endocrinology, Turkey, osmangazi university,department of pediatric endocrinology, Turkey, kayseri training and research hospital,clinic of pediatric endocrinology, Turkey, gülhane military medicine academy,department of pediatric endocrinology, Turkey, gülhane military medicine academy,department of pediatric endocrinology, Turkey, gülhane military medicine academy,department of pediatric endocrinology, Turkey, gülhane military medicine academy,department of pediatric endocrinology, Turkey, diyarbakır children state hospital,clinic of pediatric endocrinology, Turkey, gazi university,department of pediatric endocrinology, Turkey, national institute of child health and human development,bethesda, United States
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Authors
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|