Lichiardopol Corina, Mota Maria
University of Medicine and Pharmacy, 4, Petru Rareş, Craiova, Romania.
Rom J Intern Med. 2004;42(2):371-9.
Turner syndrome is due to haploinsufficiency of X chromosome genes that escape inactivation and associates female phenotype, short stature, gonadal dysgenesis, somatic stigmata, cardiovascular and renal anomalies and a large spectrum of other disorders (autoimmune thyroiditis, osteoporosis, inflammatory bowel disease, chronic liver diseases). The increased mortality in Turner syndrome is primarily a result of its cardiovascular complications. Congenital cardiac anomalies (coarctation of the aorta, bicuspid aortic valve, anomalous venous drainage) are present in 23-40% of patients; there is an increased risk of aortic dilation (42%) and dissection, ischemic heart disease and the risk of hypertension is increased three fold. In addition, insulin resistance may be present in up to 50% of women with Turner syndrome and an atherogenic lipid profile (increased cholesterol, triglycerides) favors the development of coronary artery disease. Our study was aimed to reveal anomalies in Turner syndrome that may increase cardiovascular risk. We studied a group of 62 Turner patients aged 16-67 years (mean age 26.8 years, SD = 11.1 years) comparatively to 62 age matched controls. Glycemia over 100 mg% was found in 11.3% of Turner patients vs 1.6% of controls and cholesterolemia over 200mg% was found in 51.2% of Turner patients vs 14.5% of controls; 24.2% of Turner patients were overweight vs 17.8% of controls and 6.4% were obese vs 4.8% of controls. In the Turner group we found congenital cardiac anomalies in 17.8%, hypertension in 6.5%, renal anomalies 11.3%, and hypothyroidism 29.2%.
特纳综合征是由于逃脱失活的X染色体基因单倍体不足所致，与女性表型、身材矮小、性腺发育不全、躯体特征、心血管和肾脏异常以及一系列其他疾病（自身免疫性甲状腺炎、骨质疏松症、炎症性肠病、慢性肝病）相关。特纳综合征死亡率增加主要是其心血管并发症所致。先天性心脏异常（主动脉缩窄、二叶主动脉瓣、异常静脉引流）在23% - 40%的患者中存在；主动脉扩张（42%）和夹层的风险增加，缺血性心脏病以及高血压风险增加三倍。此外，高达50%的特纳综合征女性可能存在胰岛素抵抗，致动脉粥样硬化的血脂谱（胆固醇、甘油三酯升高）有利于冠状动脉疾病的发展。我们的研究旨在揭示特纳综合征中可能增加心血管风险的异常情况。我们研究了一组62例年龄在16 - 67岁（平均年龄26.8岁，标准差 = 11.1岁）的特纳患者，并与62例年龄匹配的对照组进行比较。特纳患者中11.3%血糖超过100mg%，而对照组为1.6%；特纳患者中51.2%胆固醇血症超过200mg%，而对照组为14.5%；24.2%的特纳患者超重，而对照组为17.8%，6.4%肥胖，而对照组为4.8%。在特纳组中，我们发现17.8%有先天性心脏异常，6.5%有高血压，11.3%有肾脏异常，29.2%有甲状腺功能减退。
