The effect of hormone therapy on biochemical and ultrasound parameters associated with atherosclerosis in 46,XY DSD individuals with female phenotype

Abstract

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 2 mg 17β-estradiol/1 mg 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 (35.4 mg/dl versus 40.1 mg/dl, p = 0.019) while lowering TG (166 mg/dl versus 109 mg/dl, p = 0.026) and AIP (0.24 versus 0.04, p = 0.007). No changes were noted in TC and LDL (215.7 mg/dl versus 192.25 mg/dl and 87.46 mg/dl versus 76.35 mg/dl, respectively). There was significant reduction of VE-Cadherin (4.05 ng/ml versus 2.20 ng/ml, p = 0.002) and E-selectin (73.98 ng/ml versus 56.73 ng/ml, p = 0.004). No change was observed in Thrombomodulin and vWf (11.76 ng/ml versus 13.90 ng/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 (0.65 mm versus 0.60 mm, p = 0.018). Overall, HT was found to improve biochemical and ultrasound markers of endothelial function in 46,XY DSD patients with female phenotype.

Chinese abstract

本实验旨在评估激素治疗（HT）对性发育异常女性表型患者（46，XY）内皮功能的影响。对20名患者进行生化和超声测量，治疗的初始口服剂量为2mg 17β-雌二醇/1mg醋酸炔诺酮，治疗6个月后，测定其脂类代谢（包括总胆固醇[TC]、LDL、HDL、甘油三酯[TG]、血浆致动脉粥样硬化指数[AIP]）,以及血管内皮钙黏蛋白、E选择素、血栓调节蛋白和vWF因子。超声检查包括血流介导的血管扩张（FMD）和颈动脉和股动脉内中膜厚度（IMT）的测量。HT提高了HDL水平（35.4mg/dl和40.1mg/dl,p=0.019）,同时降低TG（166mg/dl和109mg/dl,p=0.026)和AIP(0.24和0.04, p=0.007)。TC和LDL未见到明显变化 (分别为215.7 mg/dl和192.25 mg/dl，87.46 mg/dl和76.35 mg/dl)。血管内皮钙黏蛋白(4.05 ng/ml和2.20 ng/ml, p=0.002) 和E选择素(73.98 ng/ml和56.73 ng/ml, p=0.004)显著降低。血栓调节蛋白和vWF因子未检测到明显变化 (分别为11.76 ng/ml和13.90 ng/ml and 80.75%和79.55%)。FMD 显著提高(5.4%和8.15%, p=0.003), 而只有颈动脉窦部IMT显著降低(0.65mm 和0.60 mm, p=0.018)。总之，HT被发现可以提高性发育异常女性表型患者（46，XY）内皮功能的生化和超声监测标记。

• Complete androgen insensitivity syndrome
• E-selectin
• flow-mediated dilatation
• gonadal dysgenesis
• intima media thickness
• swyer syndrome
• VE-cadherin
• vWf