Background: A decrease in HOXA11 expression in eutopic mid-secretory endometrium has been found in women with endometriosis-associated infertility. Methods: Using Real-time quantitative PCR (RQ-PCR) and western blotting analysis we studied the HOXA11 transcript and protein levels in mid-luteal eutopic endometrium from eighteen infertile women with minimal endometriosis, sixteen healthy fertile women and sixteen infertile women with fallopian tubal occlusion from the Polish population. We also evaluated transcript levels of DNA methyltransferases DNMT1, DNMT3A and DNMT3B in these groups of women. Results: There were significantly lower levels of HOXA11 transcripts (p = 0.003, p = 0.041) and protein (p = 0.004, p = 0.001) in women with endometriosis as compared to fertile women and infertile women with tubal occlusion. Moreover, we found significantly higher methylation levels of the CpG region in the first exon of HOXA11 in infertile women with endometriosis compared with fertile women (p < 0.001) and infertile women with tubal occlusion (p < 0.001). We also observed significantly increased levels of DNMT3A transcript in women with endometriosis than fertile women (p = 0.044) and infertile women with tubal occlusion (p = 0.047). However, we did not observe significant differences in DNMT1 and DNMT3B transcript levels between these investigated groups of women. Conclusions: We confirmed that reduced HOXA11 expression may contribute to endometriosis-associated infertility. Moreover, we found that DNA hypermethylation can be one of the possible molecular mechanisms causing a decrease in HOXA11 expression in the eutopic mid-secretory endometrium in infertile women with endometriosis.

Eutopic endometrium in patients with endometriosis is characterized by aberrant expression of essential genes during the implantation window. It predisposes to disturbance of endometrial receptivity. The pathomechanism of implantation failures in women with endometriosis remains unclear. This paper aims to summarize the knowledge on epigenetic mechanisms in eutopic endometrium in the group of patients with both endometriosis and infertility. The impaired DNA methylation patterns of gene promoter regions in eutopic tissue was established. The global profile of histone acetylation and methylation and the analysis of selected histone modifications showed significant differences in the endometrium of women with endometriosis. Aberrant expression of the proposed candidate genes may promote an unfavorable embryonic implantation environment of the endometrium due to an immunological dysfunction, inflammatory reaction, and apoptotic response in women with endometriosis. The role of the newly discovered proteins regulating gene expression, i.e., TET proteins, in endometrial pathology is not yet completely known. The cells of the eutopic endometrium in women with endometriosis contain a stable, impaired methylation pattern and a histone code. Medication targeting critical genes responsible for the aberrant gene expression pattern in eutopic endometrium may help treat infertility in women with endometriosis.

Objectives: The development of endometriosis is associated with changes in the expression of genes encoding the 3 beta-hydroxysteroid dehydrogenase type II (HSD3B2) and 17 beta-hydroxysteroid dehydrogenase type II (HSD17B2), estrogen receptors 1 (ESR1) and 2 (ESR2) and the androgen receptor (AR). However, little is known about the expression of HSD3B2, HSD17B1, HSD17B2, ESR1 ESR2 and AR during the endometrial phases in eutopic endometrium from infertile women with endometriosis. Material and methods: Using RT-qPCR analysis, we assessed the expression of the studied genes in the follicular and luteal phases in eutopic endometrium from fertile women (n = 17) and infertile women (n = 35) with endometriosis. Results: In the mid-follicular eutopic endometrium, we observed a significant increase in HSD3B2 transcript levels in all infertile women with endometriosis (p = 0.003), in infertile women with stage I/II endometriosis (p = 0.008) and in infertile women with stage III/IV endometriosis (p = 0.009) compared to all fertile women. There was a significant increase in ESR1 transcripts in all infertile women with endometriosis (p = 0.008) and in infertile women with stage I/II endometriosis (p = 0.019) and in infertile women with stage III/IV endometriosis (p = 0.023) compared to all fertile women. In the mid-luteal eutopic endometrium, we did not observe significant differences in HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR transcripts between infertile women with endometriosis and fertile women. Conclusions: Observed significant increase in HSD3B2 and ESR1 transcripts in follicular eutopic endometrium from infertile women with endometriosis may be related to abnormal biological effect of E2 in endometrium, further affecting the development of human embryos.

Purpose Endometriosis is considered to be an estrogen-related chronic inflammatory disease. The 17β-hydroxysteroid dehydrogenase 1 (HSD17B1) converts estrone to 17β estradiol. The role of HSD17B1 937 A>G (rs605059) single nucleotide polymorphism (SNP) in development of endometriosis is still disputable. This study evaluated the association of the HSD17B1 937 A>G (rs605059) SNP with infertile women affected by endometriosis from Polish Caucasian population. Methods The genotyping of cases (n = 290) and fertile women (n = 410) was conducted by high-resolution melting curve analysis. Results Statistical analysis demonstrated that the HSD17B1 937 A>G SNP is associated with endometriosis in stages I and II. The p _trend and p _allelic values calculated for the HSD17B1 937 A>G polymorphism were statistically significant and were equal to 0.001 and 0.0009, respectively. There was a significant association for the dominant model: (AG + GG vs AA) OR = 1.973 (95% CI = 1.178–3.304), p = 0.009, and for the recessive model: (GG vs AG + AA) OR = 1.806 (95% CI = 1.178–2.770), p = 0.006. However, we did not find statistical association of HSD17B1 937 A>G polymorphism with all infertile women with endometriosis or infertile women with endometriosis in stages III and IV. Conclusion Our genetic study demonstrated HSD17B1 937 G variant as a risk factor for infertility in women with stage I and II endometriosis in Polish Caucasian patients.

Background: Gestational diabetes mellitus (GDM) is one of the most common metabolic complications of pregnancy, and its prevalence continues to rise worldwide. Dietary management is the cornerstone of therapy, yet adherence may impose a substantial everyday burden. This study aimed to assess perceived burden and practical challenges related to following a diabetic diet in women with GDM. Methods: A cross-sectional anonymous online questionnaire study was conducted among 109 women with a current or past diagnosis of GDM within the previous five years. The survey addressed self-reported difficulties in maintaining normal blood glucose levels, adherence to a diabetic diet, perceived increases in grocery expenses, time required for meal preparation, dietary preferences, and family attitudes toward the diet. Associations between categorical variables were analyzed using contingency tables and the contingency coefficient. Results: Women with insulin-treated GDM (GDM2) reported more difficulties maintaining normal blood glucose levels than women treated with diet and physical activity alone (GDM1) (p = 0.014). Educational level was associated with perceived financial burden (p = 0.013) and meal preparation time (p = 0.003). These patterns likely reflect both differences in economic resources and the extent of dietary changes undertaken, rather than uniform differences in nutritional awareness. Pregnancy status was associated with dietary preferences, as non-pregnant respondents more often reported liking diabetic-diet meals than pregnant respondents (p = 0.037). Overall, 53.2% of respondents reported that a diabetic diet made daily functioning more difficult, mainly due to increased time and financial demands. Conclusions: Dietary management of GDM is associated with a meaningful perceived burden, especially among women requiring insulin therapy and those facing financial and time constraints. Understanding these subjective challenges may support more individualized dietary counseling and patient-centered care.