To analyze whether telomere length, X-chromosome inactivation (XCI), and androgen receptor (AR) GAG polymorphism are related to idiopathic premature ovarian insufficiency (POI).
we examined the influence of the androgen receptor gene (AR) CAG microsatellite (AR-CAG) repeat polymorphism and X-chromosome inactivation (XCI) pattern on ovarian reserve markers (follicle stimulating hormone (FSH) and antral follicle count on menstrual cycle day 3-5) and disease etiology in patients with polycystic ovarian syndrome (PCOS) or premature ovarian failure (POF).
As mice lacking the Androgen receptor (Ar) gene reportedly have a POF-like phenotype, we hypothesize that, variations in the AR gene maybe one of the causative factors for POF in humans.
The results suggest that short CAG repeats with a relatively high androgen receptor function may constitute a susceptibility factor for the development of POF.