{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T01:32:46Z","timestamp":1781659966439,"version":"3.54.5"},"reference-count":31,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T00:00:00Z","timestamp":1655683200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Institute of Natural Fibers and Medicinal Plants and the Pomeranian Medical University in Szczecin (Poland)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Hyperandrogenism is the most common endocrine disorder in women, characterized by an imbalance of normal estrogen and androgen levels in the blood. Androgens play an important role in the female body because they influence bone mineral density (BMD), body mass composition, muscle mass, mental state, and the regulation of sexual function. The reduced activity of aromatase, due to mutations in the CYP19A1 gene, reduces the estrogen pool in favor of androgens. Clinically, aromatase deficiency causes hyperandrogenism in women. Therefore, the aim of the study was to assess the effect of the CYP19A1 gene polymorphism on selected markers of bone metabolism and hormonal parameters in women with hyperandrogenism. The study group was comprised of 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, total sRANKL (free and bound RANKL), osteoprotegerin, and total 25-OH Vitamin D. An analysis of the CYP19A1 gene polymorphisms was performed using the real-time PCR method. The GG genotype of the CYP19A1 rs700518 polymorphism turned out to be associated with: FEI (Free Estradiol Index), SHGB concentration, estradiol concentration, and insulin concentration determined in the glucose tolerance test 60\u2019 compared to AG and AA genotypes. Patients with the AG genotype had a higher ratio of android to gynoid fat and a greater content of visceral adipose tissue. Higher visceral tissue content may reduce BMD. In conclusion, the study showed that the CYP19A1 rs700518 polymorphism may be associated with the distribution of adipose tissue in young women with hyperandrogenism. These results suggest that patients with the AG genotype may develop osteoporosis.<\/jats:p>","DOI":"10.3390\/jcm11123537","type":"journal-article","created":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T01:43:27Z","timestamp":1655775807000},"page":"3537","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Association of the CYP19A1 rs700518 Polymorphism with Selected Markers of Bone Metabolism in Women with Hyperandrogenism"],"prefix":"10.3390","volume":"11","author":[{"given":"Izabela","family":"Uzar","sequence":"first","affiliation":[{"name":"Department of Pharmacology and Pharmacoeconomics, Pomeranian Medical University, 71-230 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5455-8315","authenticated-orcid":false,"given":"Anna","family":"Bogacz","sequence":"additional","affiliation":[{"name":"Department of Stem Cells and Regenerative Medicine, Institute of Natural Fibers and Medicinal Plants, 62-064 Plewiska, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Sowi\u0144ska-Przepiera","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolic Diseases and Internal Diseases, Pomeranian Medical University, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krzysztof","family":"Pi\u0105tek","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Collegium Medicum, University of Zielona G\u00f3ra, 65-001 Zielona G\u00f3ra, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filip","family":"Przerwa","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Pharmacoeconomics, Pomeranian Medical University, 71-230 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlena","family":"Wolek","sequence":"additional","affiliation":[{"name":"Department of Stem Cells and Regenerative Medicine, Institute of Natural Fibers and Medicinal Plants, 62-064 Plewiska, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bogus\u0142aw","family":"Czerny","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Pharmacoeconomics, Pomeranian Medical University, 71-230 Szczecin, Poland"},{"name":"Department of Stem Cells and Regenerative Medicine, Institute of Natural Fibers and Medicinal Plants, 62-064 Plewiska, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"966","DOI":"10.3109\/09513590.2011.569605","article-title":"Bone mineral density in girls with functional hypothalamic amenorrhea subjected to estroprogestagen treatment\u2014A 4-year prospective study","volume":"27","author":"Chelstowski","year":"2011","journal-title":"Gynecol. 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