Mavinkurve Meenal, O'Gorman Clodagh S
Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland.
Department of Paediatrics, Graduate Entry Medical School, University of Limerick, Limerick, Ireland ; The Children's Ark, University Hospital Limerick, Limerick, Ireland ; National Children's Research Centre, Crumlin, Dublin 12, Ireland.
BBA Clin. 2015 Apr 30;3:304-9. doi: 10.1016/j.bbacli.2015.04.005. eCollection 2015 Jun.
Turner syndrome (TS) is the most common chromosomal abnormality in females and is associated with several co-morbidities. It commonly results from X monosomy which is diagnosed on a 30 cell karyotype. Congenital heart disease is a clinical feature in 30% of cases. It is becoming evident that TS patients have an increased risk of cardiovascular and cerebrovascular diseases.
This review provides a detailed overview of the literature surrounding cardiometabolic health in childhood and adolescent TS. In addition, the review also summarises the current data on the impact of growth hormone (GH) therapy on cardiometabolic risk in paediatric TS patients.
Current epidemiological evidence suggests that young women and girls with TS have unfavourable cardiometabolic risk factors which predispose them to adverse cardiac and cerebrovascular outcomes in young adulthood. It remains unclear whether this risk is the result of unidentified factors which are intrinsic to TS, or whether modifiable risk factors (obesity, hypertension, hyperglycaemia) are contributing to this risk.
From a clinical perspective, this review highlights the importance of regular screening and pro-active management of cardiometabolic risk from childhood in TS cohorts and that future research should aim to address whether modification of these variables at a young age can alter the disease process and atherosclerotic outcomes in adulthood.
特纳综合征（TS）是女性中最常见的染色体异常疾病，与多种合并症相关。它通常由X单体性导致，通过30细胞核型诊断。30%的病例有先天性心脏病这一临床特征。越来越明显的是，TS患者患心血管和脑血管疾病的风险增加。
本综述详细概述了有关儿童和青少年TS心脏代谢健康的文献。此外，该综述还总结了目前关于生长激素（GH）治疗对儿科TS患者心脏代谢风险影响的数据。
目前的流行病学证据表明，患有TS的年轻女性和女孩有不利的心脏代谢风险因素，这使她们在成年早期易患不良心脏和脑血管疾病。尚不清楚这种风险是TS内在的未识别因素的结果，还是可改变的风险因素（肥胖、高血压、高血糖）导致了这种风险。
从临床角度来看，本综述强调了在TS队列中从儿童期就定期筛查和积极管理心脏代谢风险的重要性，并且未来的研究应旨在解决在年轻时改变这些变量是否能改变成年期的疾病进程和动脉粥样硬化结局。
