Metabolic and cardiovascular outcomes in a group of adult patients with Turner's syndrome under hormonal replacement therapy

Abstract

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), 17b-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). Results: No difference was found between TS and CS in E 2 and BMI, whereas waist circumference was higher (P!0.05) in TS (77.7G2.5 cm) than in CS (69.8G1.0 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 (13.2G0.8 mUI/l, 2.5G0.2, and 108.9G5.5 mg/dl respectively) than in CS (9.1G0.5 mUI/l, 1.8G0.1, and 94.5G3.8 mg/dl respectively). Total cholesterol was higher (P!0.05) in TS (199.4G6.6 mg/dl) than in CS (173.9G4.6 mg/dl), whereas no significant differences in highdensity 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. Conclusions: Our results indicate that adult patients with TS under HRT are connoted by higher frequency of central obesity, insulin resistance, hypercholesterolemia, and hypertension.

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

“…Numerous observational, retrospective and interventional studies in recent years, as well as those using animal models, have supported the hypothesis that sex hormone replacement therapy exerts important beneficial effects on heart disease, diabetes and obesity in TS patients [18]. Oestrogen replacement therapy appears to reduce central arterial stiffness, improve endothelial function, and decrease carotid intima media thickness in short-term studies in TS [10].…”

“…A correlation between karyotype and phenotype has been reported [4,18]. The most severe phenotypes are 45,X and 46,XXp [4,37].…”

“…Cardiovascular findings occurring in TS might be congenital or acquired [18]. Congenital cardiovascular defects in TS are associated mainly with left-sided malformations (Table I).…”

“…Acquired cardiovascular problems in women with TS may be caused by a number of risk factors, including central obesity, impaired glucose tolerance, insulin resistance, and hyperlipidaemia [8,12,15,16,18]. More than 30% of young girls and adolescents, as well as 50% of adults with TS, are mildly hypertensive on 24-hour ambulatory blood pressure measurements, and an additional 50% display abnormal circadian blood pressure profile in the same age group [7,11].…”

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

“…A different study using death certificates to identify causes of mortality identified that the standardized mortality ratio for ischemic heart disease was raised, but few deaths occurred prior to age 45 years (268). The hypercholesterolemia is partly influenced by a multitude of factors intrinsic to TS (325,363,372,375). There is evidence that estrogen modifies lipid concentrations (149,176,370,375,376), but there is none that the type or route of administration increases risk of mortality.…”