Ostberg JE et al. (2005) Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction. J Clin Endocrinol Metab 90: 5161–5166

Women with Turner syndrome (TS) are at increased risk of cardiovascular complications, especially dissection or rupture of the aorta, implying an underlying arterial-wall defect. To investigate possible underlying mechanisms for the vasculopathy seen in this syndrome, Ostberg and colleagues assessed a range of vascular parameters in women with TS, normal controls, and women with primary amenorrhea but normal karyotype.

Widespread vascular structural differences were seen in women with TS compared with normal controls. Arterial dilatation was present in multiple vessels in addition to the aorta and was associated with increased carotid intima–media thickness (IMT). Women with primary amenorrhea showed similar increases in IMT, but without arterial dilatation, implying that estrogen deficiency is linked to IMT in TS, but is not the primary cause of vascular abnormalities. On multivariate analysis, common carotid diameter was independently associated with TS status, height, weight and IMT, and IMT was independently associated with TS status, age, diastolic blood pressure and common carotid diameter. Endothelial function was found to be similar between all three groups, suggesting that endothelial dysfunction is not the underlying cause of the large-vessel abnormalities seen in women with TS and those with estrogen deficiency.

These findings suggest that the vasculopathy seen in TS is associated with both genetic factors and estrogen deficiency. The authors suggest that management of blood pressure and estrogen deficiency may be appropriate therapeutic targets for cardiovascular risk reduction in women with TS.