Turners syndrome (TS) is one of the more common genetic disorder, occurring in about 50 per 100.000 live-born girls. TS is 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 order to examine the metabolic and cardiovascular profile, in 30 adult TS patients under hormonal replacement therapy (HRT), 17β-estradiol (E2), BMI, waist circumference, fasting glucose and insulin, HOMA index, serum lipids, OGTT, blood pressure by 24-h ambulatory 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 E2 and BMI, while waist circumference was higher (P<0.05) in TS (77.7±2.5 cm) than in CS (69.8±1.0 cm). Fasting glucose was similar in TS and in CS, while 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), while no significant differences in HDL, LDL and triglycerides were found between the two groups. In 13% of TS ABPM showed arterial hypertension, while 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 E2 was present in TS. In conclusion, our results indicate that adult patients with Turners syndrome are connoted by higher frequency of central obesity, insulin resistance, hypercholesterolemia and hypertension, suggesting an increased cardiovascular risk, even under HRT.
30 Apr - 04 May 2011
European Society of Endocrinology