ISSN 2148-4902
e-ISSN 2536-4553
 

Volume : 6 Issue : 3 Year : 2019

 
Associated clinical abnormalities among patients with Turner syndrome [North Clin Istanb]
North Clin Istanb. Ahead of Print: NCI-84758 | DOI: 10.14744/nci.2019.84758  

Associated clinical abnormalities among patients with Turner syndrome

Suna Kılınç1, Metin Yildiz, Ayla Guven
1University of Health Sciences, Istanbul Bagcılar Education and Research Hospital, Department of Pediatric Endocrinology, İstanbul, Turkey
2Göztepe Education and Research Hospital, Department of Pediatric Endocrinology, İstanbul, Turkey
3University ofHealth Sciences, Istanbul ZeynepKamil Women and Children Hospital, Department of Pediatric Endocrinology, İstanbul, Turkey

INTRODUCTION: The early diagnosis of Turner syndrome (TS) is often difficult because of the various clinical features. It is aimed to determine clinical features and identify associated abnormalities in a group of patients with TS.
METHODS: Retrospective data of presenting clinical features collected from the medical records of 37 patients with TS. All patients were examined for associated clinical abnormalities.
RESULTS: Mean age at diagnosis was 9.3 ±4.1 years. The main reason for referral was short stature and/or delayed puberty. All of the patients had at least one dysmorphic sign. Skeletal system abnormalities (57%) were the most common associated abnormality, this was followed by gastrointestinal system problems (40%). Cardiac defects occurred in 32%, urinary system abnormalities occurred in 27%. Dermatological problems detected in 32% patients. The pathology of hearing was found in 19%. Autoimmune thyroid disease detected in 24%, and celiac disease was detected in 5.4%.
DISCUSSION AND CONCLUSION: Phenotypic variability often leads to a delay in diagnosis of TS. Early diagnosis can initiate an effective management in patients with TS.

Keywords: Turner syndrome, diagnosis, clinical features, associated abnormalities


Turner sendromlu hastalarda klinik özellikler ve ilişkili patolojik bulgular

Suna Kılınç1, Metin Yildiz, Ayla Guven
1University of Health Sciences, Istanbul Bagcılar Education and Research Hospital, Department of Pediatric Endocrinology, İstanbul, Turkey
2Göztepe Education and Research Hospital, Department of Pediatric Endocrinology, İstanbul, Turkey
3University ofHealth Sciences, Istanbul ZeynepKamil Women and Children Hospital, Department of Pediatric Endocrinology, İstanbul, Turkey

GİRİŞ ve AMAÇ: Değişken klinik özellikleri nedeni ile Turner Sendromu (TS)’nun erken teşhisi genellikle zordur. Çalışmada, TS'lu bir grup hastanın klinik özellikleri ve ilişkili patolojik bulgularının değerlendirilmesi amaçlanmıştır.
YÖNTEM ve GEREÇLER: TS’lu 37 hastanın klinik verileri hasta dosyalarından geriye dönük tarandı. Tüm hastalar ilişkili patolojik bulgular açısından incelendi.
BULGULAR: Tanı anında yaş ortalaması 9,3 ± 4,1 yıl idi. Hastaneye başvurunun iki ana nedeni boy kısalığı ve ergenlik gecikmesi idi. Tüm hastalarda (çalışma grubunun % 100'ü) en az bir dismorfik bulgu saptandı. En sık iskelet sistemi anormallikleri (%57) tespit edildi, bunu gastrointestinal sistem anormallikleri (%40) izlemekteydi. Kardiyak defektler % 32, üriner sistem anormallikleri % 27 oranında idi. Hastaların % 32'sinde dermatolojik sorunlar saptandı. İşitme patolojisi % 19 olarak bulundu. Otoimmün tiroid hastalığı % 24, çölyak hastalığı ise % 5,4 olarak saptandı.
TARTIŞMA ve SONUÇ: Değişken fenotip TS tanısında genellikle gecikmeye neden olmaktadır. TS’lu hastalarda erken tanı ile etkili bir tedavi başlatabilir.

Anahtar Kelimeler: Turner sendromu, tanı, klinik özellikler, ilişkili anormallikler




Corresponding Author: Suna Kılınç


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