Department of Pharmacology and Pharmacoeconomics, Pomeranian Medical University in Szczecin, 71-230, Szczecin, Poland.
Department of Stem Cells and Regenerative Medicine, Institute of Natural Fibers and Medicinal Plants, 62-064, Plewiska, Poland.
Sci Rep. 2022 Nov 16;12(1):19712. doi: 10.1038/s41598-022-17383-w.
Hyperandrogenism is the most common endocrine disorder in women, characterized by an imbalance in normal estrogen and androgen levels in the blood. Androgens influence bone mineral density, body mass composition, muscle mass, mental state, and the regulation of sexual function.. The aim of the study was to assess the effect of estrogen receptor α gene (ESR1) polymorphisms on selected markers of bone metabolism and hormonal parameters in women with hyperandrogenism. The study group included 80 young women with hyperandrogenism who underwent measurements of bone mineral density (BMD), and determination of hormonal and metabolic parameters. Enzyme immunoassays were used to measure leptin, sRANKL (soluble receptor activator of nuclear factor-kB ligand), osteoprotegerin and 25-OH vitamin D total levels. An analysis of ESR1 gene polymorphisms was performed using the real-time PCR method. A relationship was demonstrated between the concentration of free estradiol (FEI) and the concentration of 17-OH-progesterone, and the ESR1 gene polymorphisms: rs3020314 (p = 0.031, p = 0.026 respectively) and rs1884051 (p = 0.033, p = 0.026 respectively). In conclusion, the ESR gene polymorphisms may be associated with hormonal disturbances in the concentration of estrogens and androgens, in hyperandrogenism in young women which may indirectly affect bone mineral density. However, no statistically significant relationships between the studied polymorphisms and the selected parameters of mineral metabolism have been demonstrated..
高雄激素血症是女性最常见的内分泌紊乱，其特征是血液中正常雌激素和雄激素水平失衡。雄激素影响骨密度、体成分、肌肉量、精神状态和性功能的调节。本研究旨在评估雌激素受体α基因（ESR1）多态性对高雄激素血症女性某些骨代谢和激素参数的影响。研究组包括 80 名患有高雄激素血症的年轻女性，她们接受了骨密度（BMD）测量以及激素和代谢参数的测定。酶联免疫吸附法用于测量瘦素、sRANKL（核因子-kB 配体可溶性受体激活剂）、骨保护素和 25-OH 维生素 D 总水平。使用实时 PCR 方法分析 ESR1 基因多态性。游离雌二醇（FEI）浓度与 17-OH-孕酮浓度之间存在关系，与 ESR1 基因多态性：rs3020314（p=0.031，p=0.026）和 rs1884051（p=0.033，p=0.026）有关。总之，ESR 基因多态性可能与高雄激素血症中雌激素和雄激素浓度的激素紊乱有关，这可能间接影响骨密度。然而，在所研究的多态性与所选矿物质代谢参数之间未显示出统计学上显著的关系。
