Abstract
Endometriosis is a disease very common nowadays affecting 1-2% of the female population, by estrogen-dependent mechanism. The identification of mutations in the gene encoding for the FSH receptor (FSHR) has been reported since 1995. Physiology teaches us that follicle-stimulating hormone (FSH) is a hormone that is vital in the steroidogenesis regulation mechanisms, while FSH receptor (FSHR) activation helps to promote folliculogenesis and estrogensynthesis. Therefore, studies to show if there are any correlations between endometriosis and FSHR are acquired. Genotyping of FSHR gene polymorphisms were performed using PCR - Restriction Fragment Length Polymorphism (PCR-RFLP) analysis. We analysed a total of 78 patients, 44 infertile patients with endometriosis and 34 controls (non-infertile, pregnant patients). The endometriosis group included women with diagnosis of endo-metriosis confirmed by laparoscopy and /or laparotomy and histological evidence of disease with the endometriosis staging according to American Society for Reproductive Medicine (ASRM). Corroborated with the severity of endometriosis, A919G and A2039G tests found that 71.4% of the M (GG) results were associated with primary infertility, not statistically significant (p=0.994) and 42.9% of the total M results had moderate or severe forms of endometriosis (p = 0.185). The genetic involvement in different pathologies such as endometriosis, has yet to be understood, but knowing more about its mechanism, will help physician target the disease at a more profound level.
Highlights
Studies wanted to show that endometriosis could affect the reproductive capacity of the women involved
The follicle-stimulating hormone (FSH) receptor gene (FSHR) is located on chromosome 2 and has 10 exons, with over 1000 polymorphisms that have been identified in the FSHR gene, but only a few are located within the exons [7,10]
FSHR gene is formed by two major SNPs in exon 10 that change positions between two amino acids at the Threonin307Alani, located in the extracellular area and Asparagin680Serin, in the intracellular area
Summary
Studies wanted to show that endometriosis could affect the reproductive capacity of the women involved. Not long after, numerous articles appeared that combated the initial opinion, and showed a significant decrease in the results obtained after IVF in those with endometriosis pathology [3]. A correlation between FSH polymorphism, gonadotropin doses and patient response to IVF has been studied rigorously in the past years [2]. The FSH receptor gene (FSHR) is located on chromosome 2 and has 10 exons, with over 1000 polymorphisms that have been identified in the FSHR gene, but only a few are located within the exons [7,10]. Many articles tried to correlate the structural and functional differences between these two polymorphisms and different gynecological pathologies, including endometriosis
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