Paolucci Denise Gruccio, Bamba Vaneeta
Division of Endocrinology/Diabetes, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA.
Pediatr Endocrinol Rev. 2017 Jun;14(Suppl 2):454-461. doi: 10.17458/per.vol14.2017.pb.turnersyndromecare.
Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis. Early identification of TS allows for appropriate screening and surveillance evaluations and more timely treatment intervention. This article will provide an overview of the healthcare issues common to patients with TS, treatments available and the screening and surveillance testing that is recommended.
特纳综合征(TS)是一种发生于女性的遗传性疾病,起因是其中一条X染色体部分或全部缺失。特纳综合征的两个标志性特征包括身材矮小和原发性卵巢功能不全。此外,特纳综合征可能涉及多种医疗问题,包括心脏和肾脏异常、自身免疫性疾病、听力丧失、眼科问题、骨骼异常、皮肤问题以及心理社会和教育方面的问题。特纳综合征的临床表现差异很大,导致诊断延迟甚至漏诊。早期识别特纳综合征有助于进行适当的筛查和监测评估以及更及时的治疗干预。本文将概述特纳综合征患者常见的医疗问题、可用的治疗方法以及推荐的筛查和监测检测。