Abstract:

© 2014 Informa UK Ltd. All rights reserved. The aim of this study was to evaluate the effect of hormone therapy (HT) in the endothelial function of 46,XY disorders of sexual development (DSD) patients with female phenotype. Biochemical and ultrasound measurements were performed in 20 patients at initiation of oral 2mg 17β-estradiol/1mg norethisterone acetate, and after 6 months of therapy. Lipid profile, including total cholesterol (TC), LDL, HDL, triglycerides (TG) and Atherogenic Index of Plasma (AIP), as well as levels of VE-Cadherin, E-Selectin, Thrombomodulin and vWf were determined. Ultrasonographic examinations included evaluation of flow-mediated dilatation (FMD) and measurement of Carotid and Femoral Intima Media Thickness (IMT). HT raised HDL (35.4mg/dl versus 40.1mg/dl, p=0.019) while lowering TG (166mg/dl versus 109mg/dl, p=0.026) and AIP (0.24 versus 0.04, p=0.007). No changes were noted in TC and LDL (215.7mg/dl versus 192.25mg/dl and 87.46mg/dl versus 76.35mg/dl, respectively). There was significant reduction of VE-Cadherin (4.05ng/ml versus 2.20ng/ml, p=0.002) and E-selectin (73.98ng/ml versus 56.73ng/ml, p=0.004). No change was observed in Thrombomodulin and vWf (11.76ng/ml versus 13.90ng/ml and 80.75% versus 79.55%, respectively). FMD improved significantly (5.4% versus 8.15%, p=0.003), while only carotid bulb IMT decreased significantly (0.65mm versus 0.60mm, p=0.018). Overall, HT was found to improve biochemical and ultrasound markers of endothelial function in 46,XY DSD patients with female phenotype.