Turner syndrome and associated problems in Turkish children: a multicenter study.

Abstract

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.

• Authors: Ediz Yeşilkaya, Abdullah Bereket, Feyza Darendeliler, Firdevs Baş, Şükran Poyrazoğlu, Banu Küçükemre Aydın, Şükran Darcan, Bumin Dündar, Muammer Büyükinan, Cengiz Kara, Erkan Sarı, Erdal Adal, Ayşehan Akıncı, Mehmet Emre Atabek, Fatma Demirel, Nurullah Çelik, Behzat Özkan, Bayram Özhan, Zerrin Orbak, Betül Ersoy, Murat Doğan, Ali Ataş, Serap Turan, Damla Gökşen, Ömer Tarım, Bilgin Yüksel, Oya Ercan, Şükrü Hatun, Enver Şimşek, Ayşenur Ökten, Ayhan Abacı, Hakan Döneray, Mehmet Nuri Özbek, Mehmet Keskin, Hasan Önal, Nesibe Akyürek, Kezban Bulan, Derya Tepe, Hamdi Cihan Emeksiz, Korcan Demir, Deniz Kızılay, Ali Kemal Topaloğlu, Erdal Eren, Samim Özen, Saygın Abalı, Leyla Akın, Beray Selver Eklioğlu, Sultan Kaba, Ahmet Anık, Serpil Baş, Tolga Ünüvar, Halil Sağlam, Semih Bolu, Tolga Özgen, Durmuş Doğan, Esra Deniz Çakır, Yaşar Şen, Nesibe Andıran, Filiz Çizmecioğlu, Olcay Evliyaoğlu, Gülay Karagüzel, Özgür Pirgon, Gönül Çatlı, Hatice Dilek Can, Fatih Gürbüz, Çiğdem Binay, Veysel Nijat Baş, Kürşat Fidancı, Adem Polat, Davut Gül, Cengizhan Açıkel, Hüseyin Demirbilek, Peyami Cinaz, Carolyn Bondy
• Journal: Journal of clinical research in pediatric endocrinology (J Clin Res Pediatr Endocrinol) Vol. 7 Issue 1 Pg. 27-36 (Mar 2015) ISSN: 1308-5735 [Electronic] Turkey
• PMID: 25800473 (Publication Type: Comparative Study, Journal Article, Multicenter Study)

Topics

• Adolescent
• Case-Control Studies
• Child
• Child, Preschool
• Comorbidity
• Female
• Follow-Up Studies
• Humans
• Infant
• Infant, Newborn
• Karyotyping
• Prevalence
• Prognosis
• Retrospective Studies
• Survival Rate
• Turkey (epidemiology)
• Turner Syndrome (epidemiology, genetics)