Landin-Wilhelmsen K, Bryman I, Wilhelmsen L
Research Center for Endocrinology and Metabolism, Sahlgrenska University Hospital, Göteborg, Sweden.
J Clin Endocrinol Metab. 2001 Sep;86(9):4166-70. doi: 10.1210/jcem.86.9.7818.
Turner syndrome (TS) is caused by an X chromosome aberration and is characterized by endogenous estrogen deficiency secondary to ovarian dysgenesis and short stature. Our aim was to study the prevalence of cardiovascular malformations and cardiovascular risk factors (blood pressure, blood lipids and glucose, coagulation factors, social factors, smoking habits) in adults with Turner syndrome in comparison with a female random population sample. One hundred women with Turner syndrome (aged 16-71 yr) underwent physical examination, echocardiography, electrocardiography, and blood sampling. Seventy-one of them were matched for age [mean age, 33.7 +/- 11 yr (range, 25-64)] with a random population sample (n = 213) of women [mean age, 34.8 +/- 9 yr (range, 25-64)] from the World Health Organization's Monitoring of Trends and Determinants in Cardiovascular Diseases Project, Göteborg. Six percent of Turner syndrome women were smokers compared with 25% in the population (P < 0.001). Turner syndrome women were relatively heavier and had a lower degree of leisure time physical activity than controls (P < 0.001). Diabetes and treatment for hypertension were present in 3 and 22% among Turner syndrome women vs. 2% (not significant) and 3% (P < 0.001) in controls, respectively. Cardiovascular malformations were found among 17% in Turner syndrome women (45,X dominated) vs. 0.5% in controls (P < 0.001). Systolic but not diastolic blood pressure was higher in Turner syndrome women. No differences were seen in serum total cholesterol, high- or low-density lipoprotein cholesterol, triglycerides, lipoprotein (a), or plasma fibrinogen concentrations between patients and controls. Diabetes or hypertension was not related to karyotype. In conclusion, congenital cardiovascular malformations were frequent. Most cardiovascular risk factors (glucose and lipid levels, fibrinogen, smoking habits) were not increased, but hypertension was more common in Turner syndrome women.
特纳综合征（TS）由X染色体畸变引起，其特征为继发于卵巢发育不全的内源性雌激素缺乏和身材矮小。我们的目的是研究成年特纳综合征患者心血管畸形和心血管危险因素（血压、血脂和血糖、凝血因子、社会因素、吸烟习惯）的患病率，并与女性随机人群样本进行比较。100例特纳综合征女性（年龄16 - 71岁）接受了体格检查、超声心动图、心电图和血液采样。其中71例年龄匹配[平均年龄，33.7±11岁（范围，25 - 64岁）]，与来自世界卫生组织哥德堡心血管疾病趋势和决定因素监测项目的女性随机人群样本（n = 213）[平均年龄，34.8±9岁（范围，25 - 64岁）]进行比较。特纳综合征女性中6%为吸烟者，而人群中这一比例为25%（P < 0.001）。与对照组相比，特纳综合征女性相对更重，休闲时间身体活动程度更低（P < 0.001）。特纳综合征女性中糖尿病和高血压治疗的比例分别为3%和22%，而对照组分别为2%（无显著差异）和3%（P < 0.001）。特纳综合征女性中17%发现有心血管畸形（以45,X为主），而对照组为0.5%（P < 0.001）。特纳综合征女性收缩压升高，但舒张压无差异。患者与对照组之间血清总胆固醇、高密度或低密度脂蛋白胆固醇、甘油三酯、脂蛋白（a）或血浆纤维蛋白原浓度未见差异。糖尿病或高血压与核型无关。总之，先天性心血管畸形很常见。大多数心血管危险因素（血糖和血脂水平、纤维蛋白原、吸烟习惯）没有增加，但高血压在特纳综合征女性中更常见。
