METABOLIC AND CARDIOVASCULAR OUTCOMES IN A GROUP OF ADULT PATIENTS WITH TURNER'S SYNDROME UNDER HORMONAL REPLACEMENT THERAPY

Objective: 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. Subjects and Methods: In 30 adult TS patients under chronic 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). Results: 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 in TS and in CS was similar, while fasting insulin, HOMA index and 2h-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 2h-glucose after OGTT and E2 was present in TS. Conclusions: Our results indicate that adult patients with Turner's syndrome under HRT are connoted by higher frequency of central obesity, insulin resistance, hypercholesterolemia and hypertension.