Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study
Ediz Yeşilkaya1, Abdullah Bereket2, Feyza Darendeliler3, Firdevs Baş3, Şükran Poyrazoğlu3, Banu Küçükemre Aydın3, Şükran Darcan4, Bumin Dündar5, Muammer Büyükinan6, Cengiz Kara7, Erkan Sarı1, Erdal Adal8, Ayşehan Akıncı9, Mehmet Emre Atabek10, Fatma Demirel11, Nurullah Çelik12, Behzat Özkan13, Bayram Özhan14, Zerrin Orbak15, Betül Ersoy16, Murat Doğan17, Ali Ataş18, Serap Turan2, Damla Gökşen4, Ömer Tarım19, Bilgin Yüksel20, Oya Ercan21, Şükrü Hatun22, Enver Şimşek23, Ayşenur Ökten24, Ayhan Abacı25, Hakan Döneray15, Mehmet Nuri Özbek26, Mehmet Keskin27, Hasan Önal8, Nesibe Akyürek10, Kezban Bulan17, Derya Tepe11, Hamdi Cihan Emeksiz12, Korcan Demir13, Deniz Kızılay16, Ali Kemal Topaloğlu20, Erdal Eren19, Samim Özen4, Saygın Abalı2, Leyla Akın28, Beray Selver Eklioğlu10, Sultan Kaba17, Ahmet Anık29, Serpil Baş2, Tolga Ünüvar8, Halil Sağlam19, Semih Bolu30, Tolga Özgen8, Durmuş Doğan19, Esra Deniz Çakır19, Yaşar Şen31, Nesibe Andıran11, Filiz Çizmecioğlu22, Olcay Evliyaoğlu21, Gülay Karagüzel24, Özgür Pirgon32, Gönül Çatlı29, Hatice Dilek Can19, Fatih Gürbüz20, Çiğdem Binay23, Veysel Nijat Baş33, Kürşat Fidancı1, Adem Polat1, Davut Gül1, Cengizhan Açıkel1, Hüseyin Demirbilek26, Peyami Cinaz12, Carolyn Bondy341Gülhane Military Medicine Academy, Department Of Pediatric Endocrinology, Ankara, Turkey2Marmara University Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
3İstanbul University Istanbul Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
4Ege University Faculty Of Medicine, Department Of Pediatric Endocrinology, İzmir, Turkey
5Katip Çelebi University Faculty Of Medicine, Department Of Pediatric Endocrinology, İzmir, Turkey
6Konya Training And Research Hospital, Clinic Of Pediatric Endocrinology, Konya, Turkey
7Ondokuz Mayıs University Faculty Of Medicine, Department Of Pediatric Endocrinology, Samsun, Turkey
8Kanuni Sultan Süleyman Training And Research Hospital, Clinic Of Pediatric Endocrinology, İstanbul, Turkey
9Inönü University Faculty Of Medicine, Department Of Pediatric Endocrinology, Malatya, Turkey
10Necmettin Erbakan University Faculty Of Medicine, Department Of Pediatric Endocrinology, Konya, Turkey
11Yıldırım Beyazıt University Faculty Of Medicine, Department Of Pediatric Endocrinology, Ankara, Turkey
12Gazi University Faculty Of Medicine, Department Of Pediatric Endocrinology, Ankara, Turkey
13Dr. Behçet Uz Children Hospital, Clinic Of Pediatric Endocrinology, İzmir, Turkey
14Pamukkale University Faculty Of Medicine, Department Of Pediatric Endocrinology, Denizli, Turkey
15Atatürk University Faculty Of Medicine, Department Of Pediatric Endocrinology, Erzurum, Turkey
16Celal Bayar University Faculty Of Medicine, Department Of Pediatric Endocrinology, Manisa, Turkey
17Yüzüncü Yıl University Faculty Of Medicine, Department Of Pediatric Endocrinology, Van, Turkey
18Harran University Faculty Of Medicine, Department Of Pediatric Endocrinology, Şanlıurfa, Turkey
19Uludağ University Faculty Of Medicine, Department Of Pediatric Endocrinology, Bursa, Turkey
20Çukurova University Faculty Of Medicine, Department Of Pediatric Endocrinology, Adana, Turkey
21İstanbul University Cerrahpaşa Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
22Kocaeli University Faculty Of Medicine, Department Of Pediatric Endocrinology, Kocaeli, Turkey
23Osmangazi University Faculty Of Medicine, Department Of Pediatric Endocrinology, Eskişehir, Turkey
24Karadeniz Technical University Faculty Of Medicine, Department Of Pediatric Endocrinology, Trabzon, Turkey
25Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
26Diyarbakır Children State Hospital, Clinic Of Pediatric Endocrinology, Diyarbakır, Turkey
27Gaziantep University Faculty Of Medicine, Department Of Pediatric Endocrinology, Gaziantep, Turkey
28Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey
29Dokuz Eylül University Faculty Of Medicine, Department Of Pediatric Endocrinology, İzmir, Turkey
30Düzce University Faculty Of Medicine, Department Of Pediatric Endocrinology, Düzce, Turkey
31Selçuk University Faculty Of Medicine, Department Of Pediatric Endocrinology, Konya, Turkey
32Süleyman Demirel University Faculty Of Medicine, Department Of Pediatric Endocrinology, Isparta, Turkey
33Kayseri Training And Research Hospital, Clinic Of Pediatric Endocrinology, Kayseri, Turkey
34National Institute Of Child Health And Human Development, Bethesda, Maryland, Usa
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 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.
Manuscript Language: English
