Dissertation committee:
Αναπληρωτής Καθηγητής Ευθυμιος Δεληγεώρογλου, Αναπληρωτής Καθηγητής Γεωργιος Μαστοράκος, Επίκουρος Καθηγητής Εμμανουήλ Οικονόμου
Summary:
The aim of this study was to evaluate the effect of hormone therapy (HT) in the
endothelial function of 46, XY 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 six 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 vs 40.1mg/dl, p=0.019) while lowering TG (166mg/dl vs 109mg/dl,
p=0.026) and AIP (0.24 vs 0.04, p=0.007). No changes were noted in TC and LDL
(215.7mg/dl vs 192.25mg/dl and 87.46mg/dl vs 76.35mg/dl, respectively). There
was significant reduction of VE-Cadherin (4.05ng/ml vs 2.20ng/ml, p=0.002) and
E-selectin (73.98ng/ml vs 56.73ng/ml, p=0.004). No change was observed in
Thrombomodulin and vWf (11.76ng/ml vs. 13.90ng/ml and 80.75% vs 79.55%,
respectively). FMD improved significantly (p=0.003) (5.4% vs 8.15%, p=0.003),
while only carotid bulb IMT decreased significantly (0.65 mm vs 0.60 mm,
p=0.018). Overall, Six months of HT administration improves biochemical and
ultrasound markers of endothelial function in 46XY DSD patients with female
phenotype. Further research is needed in order to confirm the results observed
in this study.
Keywords:
Swyer syndrome, Complete androgen insensitvity Syndrome, VE-cadherin, E-selectin, Flow mediated dilatation
