Abstract
Endometriosis is defined as the presence of endometrial foci, localized beyond their primary site, i.e., the uterine cavity. The etiology of this disease is rather complex. Its development is supported by hormonal, immunological, and environmental factors. During recent years, particular attention has been focused on the genetic mechanisms that may be of particular significance for the increased incidence rates of endometriosis. According to most recent studies, ESR2 and CYP19A1 genes may account for the potential risk factors of infertility associated with endometriosis. The paper presents a thorough review of the latest reports and data concerning the genetic background of the risk for endometriosis development.
Highlights
Endometriosis is a medical condition characterized by the presence of active foci of uterine mucous membrane or of endometrial tissue cells localized beyond the uterine cavity, i.e., in the muscular layer of the uterus as well as in other genital organs and at their regions, and even at other places of the body, distant from the genital organs [1]
Particular attention has been focused on the genetic mechanisms that may be of particular significance for the increased incidence rates of endometriosis
One of the ways is an evaluation of the expression levels of estrogen receptor genes and of the enzyme genes responsible for metabolism of drugs, including estrogen receptor 2 (ESR2) and CYP19A1, respectively
Summary
Endometriosis is a medical condition characterized by the presence of active foci of uterine mucous membrane (glandular and stromal cells) or of endometrial tissue cells (endometrioides, where eides means “similar” in Greek) localized beyond the uterine cavity, i.e., in the muscular layer of the uterus as well as in other genital organs and at their regions, and even at other places of the body, distant from the genital organs [1]. Endometriosis is a mild, estrogen-dependent, gynecological condition; taking into account its chronic character and accompanying complaints, it is approached as a major medical, social, and economic problem. Endometriosis is a frequent gynecological condition both in Poland and in the world. This disease affects 10–15% of women in the reproductive age and 35–50% of women with pains in the pelvis minor and/or with infertility. Endometriosis exerts a substantial negative impact on many aspects of social, family, sexual, educational, and occupational activity as well as its adverse impacts may be found in daily life [11,12,13]. Considering its effects on sexuality and fertility, it may have negative consequences for relations in partnerships
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