Vascular endothelial growth factor (VEGF) is a specific growth factor for endothelium but plays also a role in the signaling involved in embryonic endocardial-to-mesenchymal transformation of the endocardial cushions. Furthermore, VEGF is the major vascular permeability factor in both fetal and postnatal life. Overexpression of VEGF during fetal life is associated with fetal hydrops and abnormal endocardial cushion development and therefore with congenital heart defects. Cases of prenatal cervical hygroma like in Turner syndrome show both hydrops and cardiac defects. We hypothesize that excess VEGF formed in the wall of the distended jugular sacs (cervical hygroma's) results in other abnormal features characteristic for Turner syndrome such as short stature and gonadal dysgenesis. This implicates that if excess VEGF could be limited prenatally, the phenotypical expression of Turner syndrome can possibly be reduced.

dx.doi.org/10.1016/j.mehy.2005.02.030, hdl.handle.net/1765/58850
Medical Hypotheses
Department of Gynaecology & Obstetrics

Brandenburg, H, Steegers, E.A.P, & Gittenberger-de Groot, A.C. (2005). Potential involvement of vascular endothelial growth factor in pathophysiology of Turner syndrome. Medical Hypotheses (Vol. 65, pp. 300–304). doi:10.1016/j.mehy.2005.02.030