背景:特纳综合征(TS)是女性中最常见的染色体异常,并与几种合并症有关。它通常是由在30个细胞核型上诊断的X一元性产生的。先天性心脏病是30%病例的临床特征。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。
方法:这篇综述提供了有关儿童和青少年TS中心脏代谢健康的文献的详细概述。此外,本综述还总结了目前有关生长激素(GH)治疗对儿科TS患者心脏代谢风险影响的数据.
结论:目前的流行病学证据表明,患有TS的年轻女性和女孩具有不利的心脏代谢危险因素,这使她们在成年后容易发生不良的心脑血管结局。目前尚不清楚这种风险是否是TS固有的未知因素的结果,或者是否可改变的危险因素(肥胖,高血压,高血糖症)是造成这种风险的原因。
结论:从临床角度来看,本综述强调了在TS队列中定期筛查和积极管理从儿童开始的心脏代谢风险的重要性,未来的研究应旨在探讨在年轻时改变这些变量是否会改变成年后的疾病过程和动脉粥样硬化结局.
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
CONCLUSIONS: 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.