Kilinc Suna, Yildiz Metin, Guven Ayla
Department of Pediatric Endocrinology, University of Health Sciences, Istanbul Bagcilar Training and Research Hospital, Istanbul, Turkey.
Department of Pediatric, Goztepe Training and Research Hospital, Istanbul, Turkey.
North Clin Istanb. 2020 Apr 14;7(3):226-230. doi: 10.14744/nci.2019.84758. eCollection 2020.
The early diagnosis of Turner syndrome (TS) is often difficult because of the various clinical features. This study aimed to investigate clinical features and identify associated abnormalities in a group of patients with TS.
Retrospective data of presenting clinical features collected from the medical records of the 37 patients with TS. All patients were examined for associated clinical abnormalities.
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, which was followed by gastrointestinal system problems (40%). Cardiac defects occurred in 32%. Urinary system abnormalities occurred in 27%. Dermatological problems were detected in 32% of the patients. The pathology of the hearing was found in 19%. Autoimmune thyroid disease was detected in 24% of the patients, and celiac disease was detected in 5.4% of the patients.
Phenotypic variability often leads to a delay in the diagnosis of TS. Early diagnosis can initiate effective management in patients with TS.
由于特纳综合征（TS）具有多种临床特征，其早期诊断往往较为困难。本研究旨在调查一组TS患者的临床特征并确定相关异常情况。
从37例TS患者的病历中收集有关呈现的临床特征的回顾性数据。对所有患者进行相关临床异常情况检查。
诊断时的平均年龄为9.3±4.1岁。转诊的主要原因是身材矮小和/或青春期延迟。所有患者至少有一项畸形体征。骨骼系统异常（57%）是最常见的相关异常，其次是胃肠道系统问题（40%）。心脏缺陷发生率为32%。泌尿系统异常发生率为27%。32%的患者检测到皮肤问题。19%发现听力病变。24%的患者检测到自身免疫性甲状腺疾病，5.4%的患者检测到乳糜泻。
表型变异性常导致TS诊断延迟。早期诊断可启动对TS患者的有效管理。
