Abstract
Objective. 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). Design. Case-control study. Population. In all, 32 women with PCOS, 26 women with POF and 79 controls were investigated. Methods. AR-CAG and XCI were analyzed using polymerase chain reaction-based assays following DNA digestion with the methylation-sensitive restrictase HpaII. Main outcome measures. Distribution of AR-CAG alleles and XCI patterns. Results. POF patients had shorter AR-CAG microsatellites than controls. AR-CAG microsatellite length was negatively associated with serum dehydroepiandrosterone sulfate level. The magnitude of XCI skewing was negatively and positively correlated with luteinizing hormone (LH) and FSH serum levels, respectively, during the early follicular phase, but showed no correlation with the number of early antral follicles. Conclusions. Our results suggest that AR-CAG variations and XCI pattern exert an effect on FSH and LH values, and also have the potential to influence the etiopathogenesis of POF.
Acknowledgements
This research was supported by the European Union through the European Regional Development Fund, in the frame of the Centre of Excellence in Genomics and 7 FP Project ECOGENE, Estonian Biocentre and Tartu University, the Estonian Science Foundation (grants nos. 6498 and 6585) and Estonian Ministry of Education and Science (core grants nos. SF0180142Cs08 and SF0180044s09), by Enterprise Estonia (grant no. EU30200), and by European Cooperation in Science and Technology (COST ACTION FA0702 GEMINI).
Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.