Lymph Vessel Defects in Patients with Ovarian Dysgenesis

Abstract

Lymphangiography of the lower extremities was performed in 21 patients with ovarian dysgenesis. Seventeen subjects turned out to have hypoplastic superficial lymph vessels of the lower limbs. Aplasia of the lymphatics of the legs occurred in four instances. Hypoplastic lymph pathways were also observed in the pelvis and in the retroperitoneal space. Although the impairment of the lymphatic channels occurred in all cases of ovarian dysgenesis, it appears that it is more severe in patients with streak gonads. There was no correlation between the lymphatic defect and the karyotype. Patients with and without lymphedema had similar lymphatic defects. Our findings suggest that hypoplasia of the superficial lymph vessels of the lower limbs is a common abnormality in patients with ovarian dysgenesis irrespective of their chromosomal complements. The hypothesis that lymphedema in ovarian dysgenesis is mainly attributable to hypoplasia of the lymphatic channels is supported by this study. However, it appears that other factor(s) may also play a role in the pathogenesis of the lymphedema, since, despite lymphatic hypoplasia, lymphedema does not develop in all instances.

Jugular Lymphatic Maldevelopment in Turner Syndrome and Trisomy 21: Different Anomalies Leading to Nuchal Edema

“…VEGF-A expression can be induced by tissue expansion causing mechanical stretch, by shear stress due to altered hemodynamics, and by hypoxia. 30,31 It is likely that the edema, in trisomy 21 possibly caused by abnormal endothelial functioning of the JLS 14 and in Turner syndrome by aplasia or extreme hypoplasia of the lymphatic system, leads to overexpression of VEGF-A through tissue expansion.This also explains the fact that in trisomy 21, in which lymphatic malformations transiently arise in the neck region, 14 overexpression of VEGF-A is seen only in the nuchal area, while Turner fetuses, in which lymphatic anomalies throughout the body are common, 9,11,32 show an overall VEGF-A overexpression. Moreover, overexpression of VEGF-A, also known as vascular permeability factor, has been shown to cause severe edema.…”

“…3,8,9 Conversely, other studies describe an absence or hypoplasia of the lymph vessels in the skin of Turner fetuses as cause for the edema. 10,11 T he nuchal translucency (NT) is a translucent area in the neck region of the fetus, which is visible between 9 and 14 weeks of gestational age (GA). The size of the NT can be measured by ultrasound and is part of the first-trimester screening for aneuploidy.…”

Vascular malformations

“…There are also cases of lymphedema, such as Turner syndrome and Noonan syndrome, which are characterized by other congenital anomalies. [107][108][109][110][111] Worthy of mention as well is the infrequent autosomal recessive Hennekam syndrome consisting of congenital lymphedema, intestinal lymphangiectasia and mental retardation. 112 Most of these conditions are believed to be caused by hypoplasia of the normal lymphatic system.…”

Pathogenesis of congenital defects associated with Turner's syndrome: the role of hypoalbuminemia and edema

“…Hypoplasia of the lymphatics has also been reported in older children with Turner's syndrome (Alvin et al, 1967;Benson et al, 1965;Vittay et al, 1980). We believe that the early edematous condition interferes with the normal development of the lymphatics.…”