Department of Clinical and Biological Sciences, University of Turin, 10126 Turin, Italy.
Eur J Endocrinol. 2011 May;164(5):819-26. doi: 10.1530/EJE-11-0002. Epub 2011 Mar 4.
Turner's syndrome (TS) is a rare genetic disorder caused by complete or partial X chromosome monosomy in a phenotypic female, and it is associated with increased morbidity and mortality for cardiovascular diseases, impaired glucose tolerance, and dyslipidemia.
In 30 adult TS patients under chronic hormonal replacement therapy (HRT), 17β-estradiol (E(2)), body mass index (BMI), waist circumference, fasting glucose and insulin, homeostatic model assessment (HOMA) index, serum lipids, oral glucose tolerance test (OGTT), 24 h ambulatory blood pressure monitoring (ABPM), and intima-media thickness (IMT) were evaluated and compared with those in 30 age- and sex-matched controls (CS).
No difference was found between TS and CS in E(2) and BMI, whereas waist circumference was higher (P<0.05) in TS (77.7±2.5 cm) than in CS (69.8±1.0 cm). Fasting glucose in TS and in CS was similar, whereas fasting insulin, HOMA index, and 2 h glucose after OGTT were higher (P<0.0005) in TS (13.2±0.8 mUI/l, 2.5±0.2, and 108.9±5.5 mg/dl respectively) than in CS (9.1±0.5 mUI/l, 1.8±0.1, and 94.5 ± 3.8 mg/dl respectively). Total cholesterol was higher (P<0.05) in TS (199.4 ± 6.6 mg/dl) than in CS (173.9±4.6 mg/dl), whereas no significant differences in high-density lipoprotein, low-density lipoprotein, and triglycerides were found between the two groups. In 13% of TS, ABPM showed arterial hypertension, whereas IMT was <0.9 mm in all TS and CS. A negative correlation between insulin levels, HOMA index, or 2 h glucose after OGTT and E(2) was present in TS.
Our results indicate that adult patients with TS under HRT are connoted by higher frequency of central obesity, insulin resistance, hypercholesterolemia, and hypertension.
特纳综合征(TS)是一种罕见的遗传性疾病,由表型女性的完全或部分 X 染色体单体性引起,与心血管疾病、葡萄糖耐量受损和血脂异常的发病率和死亡率增加有关。
在 30 名接受慢性激素替代治疗(HRT)的成年 TS 患者中,评估了 17β-雌二醇(E2)、体重指数(BMI)、腰围、空腹血糖和胰岛素、稳态模型评估(HOMA)指数、血清脂质、口服葡萄糖耐量试验(OGTT)、24 小时动态血压监测(ABPM)和内膜-中层厚度(IMT),并与 30 名年龄和性别匹配的对照组(CS)进行比较。
TS 和 CS 之间的 E2 和 BMI 无差异,而 TS 的腰围较高(P<0.05)(77.7±2.5cm)高于 CS(69.8±1.0cm)。TS 和 CS 的空腹血糖相似,而空腹胰岛素、HOMA 指数和 OGTT 后 2 小时血糖较高(P<0.0005)(13.2±0.8mUI/l、2.5±0.2 和 108.9±5.5mg/dl 分别)比 CS(9.1±0.5mUI/l、1.8±0.1 和 94.5 ± 3.8mg/dl 分别)。TS 的总胆固醇较高(P<0.05)(199.4 ± 6.6mg/dl)高于 CS(173.9±4.6mg/dl),而两组之间高密度脂蛋白、低密度脂蛋白和甘油三酯无显著差异。在 13%的 TS 中,ABPM 显示动脉高血压,而所有 TS 和 CS 的 IMT 均<0.9mm。TS 中存在胰岛素水平、HOMA 指数或 OGTT 后 2 小时血糖与 E2 之间的负相关。
我们的结果表明,接受 HRT 的成年 TS 患者存在中心性肥胖、胰岛素抵抗、高胆固醇血症和高血压的发生率较高。