Turner syndrome and associated problems in Turkish children: a multicenter study.
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Yeşilkaya Ediz, Bereket Abdullah, Darendeliler Feyza, Baş Firdevs, Poyrazoğlu Şükran, Küçükemre Aydın Banu, Darcan Şükran, Dündar Bumin, Büyükinan Muammer, Kara Cengiz, Sarı Erkan, Adal Erdal, Akıncı Ayşehan, Atabek Mehmet Emre, Demirel Fatma, Çelik Nurullah, Özkan Behzat, Özhan Bayram, Orbak Zerrin, Ersoy Betül, Doğan Murat, Ataş Ali, Turan Serap, Gökşen Damla, Tarım Ömer, Yüksel Bilgin, Ercan Oya, Hatun Şükrü, Şimşek Enver, Ökten Ayşenur, Abacı Ayhan, Döneray Hakan, Özbek Mehmet Nuri, Keskin Mehmet, Önal Hasan, Akyürek Nesibe, Bulan Kezban, Tepe Derya, Emeksiz Hamdi Cihan, Demir Korcan, Kızılay Deniz, Topaloğlu Ali Kemal, Eren Erdal, Özen Samim, Abalı Saygın, Akın Leyla, Selver Eklioğlu Beray, Kaba Sultan, Anık Ahmet, Baş Serpil, Ünüvar Tolga, Sağlam Halil, Bolu Semih, Özgen Tolga, Doğan Durmuş, Deniz Çakır Esra, Şen Yaşar, Andıran Nesibe, Çizmecioğlu Filiz, Evliyaoğlu Olcay, Karagüzel Gülay, Pirgon Özgür, Çatlı Gönül, Can Hatice Dilek, Gürbüz Fatih, Binay Çiğdem, Baş Veysel Nijat, Fidancı Kürşat, Polat Adem, Gül Davut, Açıkel Cengizhan, Demirbilek Hüseyin, Cinaz Peyami, Bondy Carolyn
Аннотация
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.