The Influence of ESR1 Polymorphisms on Hormonal, Metabolic, and Mineral Balance Markers in Women with Hyperandrogenism

The study conducted from 2013 to 2015 involved 80 young women aged 18 to 35 with hyperandrogenism, investigating the effect of ESR1 gene polymorphisms on the risk of osteoporosis. The research found that the ESR1 rs3020314 polymorphism resulted in a significantly higher level of free estradiol and 17-OH-progesterone in CC homozygotes. The study also found correlations between the concentration of free estradiol, 17-OH-progesterone, DHEA-SO4, vitamin 25-(OH)D and the rs3020314, rs1884051, and rs2077647 polymorphisms of the ESR1 gene. Additionally, the distribution of android and gynoid fat was associated with the rs1884051 polymorphism. The study concluded that ESR1 gene polymorphisms may influence hormonal, metabolic and mineral balance in women with hyperandrogenism, potentially affecting bone mineral density. However, no significant relationships were found between the studied polymorphisms and selected parameters of mineral metabolism, and the study lacked a control group.