Deep Endometriosis and Infertility: What Is the Impact of Surgery?

In women with deep endometriosis, the spontaneous fertility rate might range from 2 to 10%. The optimal management of these women is still an area of debate. Therefore, this review aims to explore the literature on the impact of deep endometriosis surgery on reproductive outcomes and pregnancy rates in women with and without prior infertility. A total of 392 articles were identified through database searching. Twenty-three studies were eligible to be included in the review. A total of 1548 women were identified, 814 of whom became pregnant, with a mean pregnancy rate of 52.6% (95% CI 49.7–63%). Our review suggests that surgery may improve fertility outcomes. Due to the variability in the studies, it is impossible to stratify fertility outcomes of surgery by the localization of deep endometriosis. More investigations are needed to determine whether surgical management should be first-intention or limited to the failure of medically assisted reproduction treatment

Spread of ductal carcinoma in situ into a phyllodes breast tumour: a case report

Phyllodes are uncommon fibroepithelial breast tumours. Here, we present the case of a 42-year-old woman who presented to our breast centre with a palpable breast mass, which was initially suspected and treated as fibroadenoma but was finally revealed to be a phyllodes tumour. Histopathological examination identified ductal carcinoma in situ (DCIS) within the entire volume of the fibroepithelial tumour. The literature on these transformations is still limited, and the treatment is not standardised

Medical and surgical interventions to improve the quality of life for endometriosis patients: a systematic review

Endometriosis impairs the quality of life (QoL) of many women, including their social relationships, daily activity, productivity at work, and family planning. The aim of this review was to determine the instruments used to examine QoL in previous clinical studies of endometriosis and to evaluate the effect of medical and surgical interventions for endometriosis on QoL. We conducted a systematic search and review of studies published between January 2010 and December 2020 using MEDLINE. Search terms included “endometriosis” and “quality of life.” We only selected studies that used a standardized questionnaire to evaluate QoL before and after medical or surgical interventions. Only articles in the English language were examined. The initial search identified 720 results. After excluding duplicates and applying inclusion criteria, 37 studies were selected for analysis. We found that the two scales most frequently used to measure QoL were the Short Form-36 health survey questionnaire (SF-36) and the Endometriosis Health Profile-30 (EHP-30). Many medical and surgical treatments demonstrated comparable benefits in pain control and QoL improvement. There is no clear answer as to what is the best treatment for improving QoL because each therapy must be personalized for the patient and depends on the woman’s goals. In conclusion, women must be informed about endometriosis and given easily accessible information to improve treatment adherence and their QoL

Metabolic profile of patients with severe endometriosis: a prospective experimental study

Endometriosis is a common disease affecting women in reproductive age. There are several hypotheses on the pathogenesis of this disease. Often, its lesions and symptoms overlap with those of many other medical and surgical conditions, causing a delay in diagnosis. Metabolomics represents a useful diagnostic tool for the study of metabolic changes during a different physiological or pathological status. We used 1H-NMR to explore metabolic alteration in a cohort of patients with endometriosis in order to contribute to a better understanding of the pathophysiology of the disease and to suggest new useful biomarkers. Thirty-seven patients were recruited for the metabolomic analysis: 22 patients affected by symptomatic endometriosis and 15 not affected by it. Their serum samples were collected and analyzed with 1H-NMR. Multivariate statistical analysis was conducted, followed by univariate and pathway analyses. Partial Least Square Discriminant Analysis (PLS-DA) was performed to determine the presence of any differences between the non-endometriosis and endometriosis samples (R2X = 0.596, R2Y = 0.713, Q2 = 0.635, and p < 0.0001). β-hydroxybutyric acid and glutamine were significantly increased, whereas tryptophan was significantly decreased in the endometriosis patients. ROC curves were built to test the diagnostic power of the metabolites (β-hydroxybutyric acid: AUC = 0.85 CI = 0.71–0.99; glutamine: AUC = 0.83 CI = 0.68–0.98; tryptophan: AUC = 0.75 CI = 0.54–0.95; β-hydroxybutyric acid + glutamine + tryptophan AUC = 0.92 CI = 0.81–1). The metabolomic approach enabled the identification of several metabolic alterations occurring in women with endometriosis. These findings may provide new bases for a better understanding of the pathophysiological mechanisms of the disease and for the discovery of new biomarkers. Trial registration number NCT0233781

Gas Chromatography–Mass Spectrometry (GC–MS) Metabolites Analysis in Endometriosis Patients: A Prospective Observational Translational Study

Background: Endometriosis affects women of reproductive age, and its pathogenesis is still unclear. Typically, it overlaps other similar medical and surgical conditions, determining a delay in early diagnosis. Metabolomics allows studying metabolic changes in different physiological or pathological states to discover new potential biomarkers. We used the gas chromatography–mass spectrometer (GC–MS) to explore metabolic alterations in endometriosis to better understand its pathophysiology and find new biomarkers. Methods: Twenty-two serum samples of patients with symptomatic endometriosis and ten without it were collected and subjected to GC–MS analysis. Multivariate and univariate statistical analyses were performed, followed by pathway analysis. Results: Partial least squares discriminant analysis was performed to determine the differences between the two groups (p = 0.003). Threonic acid, 3-hydroxybutyric acid, and proline increased significantly in endometriosis patients, while alanine and valine decreased. ROC curves were built to test the diagnostic power of metabolites. The pathway analysis identified the synthesis and degradation of ketone bodies and the biosynthesis of phenylalanine, tyrosine, and tryptophan as the most altered pathways. Conclusions: The metabolomic approach identifies metabolic alterations in women with endometriosis. These findings may improve our understanding of the pathophysiological mechanisms of disease and the discovery of new biomarkers

Nutritional Interventions, Complementary and Alternative Medicine for Endometriosis

Since endometriosis symptoms can significantly impact women’s quality of life, while the short-term and particularly long-term therapeutic benefits of the currently available approaches are quite limited, there is increasing frustration among patients who undergo only hormonal and/or surgical intervention. The discovery of changeable risk factors for endometriosis, such as diet and exercise, and the search for complementary and alternative medicine (CAM), has become increasingly attractive. The importance of nutrition in controlling the growth and development of endometriosis has lately emerged as a matter of study, mainly due to the finding that some of the disease-related physiological and pathological pathways, such as inflammatory response, estrogen production, menses succession, organochlorine influence, and prostaglandin secretion, may also be affected by nutrition and lifestyle. CAM include applying topical heat, rest, relaxation, movement, massage, kinesiology, physiotherapy, homeopathy, phytotherapy, acupuncture, electrotherapy, traditional Chinese medicine, osteopathic manipulative therapy, and yoga

Nutritional Interventions, complementary and alternative medicine for endometriosis

Since endometriosis symptoms can significantly impact women’s quality of life, while the short-term and particularly long-term therapeutic benefits of the currently available approaches are quite limited, there is increasing frustration among patients who undergo only hormonal and/or surgical intervention. The discovery of changeable risk factors for endometriosis, such as diet and exercise, and the search for complementary and alternative medicine (CAM), has become increasingly attractive. The importance of nutrition in controlling the growth and development of endometriosis has lately emerged as a matter of study, mainly due to the finding that some of the disease-related physiological and pathological pathways, such as inflammatory response, estrogen production, menses succession, organochlorine influence, and prostaglandin secretion, may also be affected by nutrition and lifestyle. CAM include applying topical heat, rest, relaxation, movement, massage, kinesiology, physiotherapy, homeopathy, phytotherapy, acupuncture, electrotherapy, traditional Chinese medicine, osteopathic manipulative therapy, and yoga

Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population

The pathogenesis of endometriosis is unknown, but some evidence supports a genetic predisposition. The purpose of this study was to evaluate the recent literature on the genetic characterization of women affected by endometriosis and to evaluate the influence of polymorphisms of the wingless‐type mammalian mouse tumour virus integration site family member 4 (WNT4), vezatin (VEZT), and follicle stimulating hormone beta polypeptide (FSHB) genes, already known to be involved in molecular mechanisms associated with the proliferation and development of endometriotic lesions in the Sardinian population. Materials and Methods: In order to provide a comprehensive and systematic tool for those approaching the genetics of endometriosis, the most cited review, observational, cohort and case‐control studies that have evaluated the genetics of endometriosis in the last 20 years were collected. Moreover, 72 women were recruited for a molecular biology analysis of whole‐blood samples—41 patients affected by symptomatic endometriosis and 31 controls. The molecular typing of three single nucleotide polymorphisms (SNPs) was evaluated in patients and controls: rs7521902, rs10859871 and rs11031006, mapped respectively in the WNT4, VEZT and FSHB genes. In this work, the frequency of alleles, genotypes and haplotypes of these SNPs in Sardinian women is described. Results: From the initial search, a total of 73 articles were chosen. An analysis of the literature showed that in endometriosis pathogenesis, the contribution of genetics has been well supported by many studies. The frequency of genotypes observed in the groups of the study population of 72 women was globally coherent with the law of the Hardy–Weinberg equilibrium. For the SNP rs11031006 (FSHB), the endometriosis group did not show an increase in genotypic or allelic frequency due to this polymorphism compared to the control group (p = 0.9999, odds ratio (OR) = 0.000, 95% confidence interval (CI), 0.000–15.000 and p = 0.731, OR = 1639, 95% CI, 0.39–683, respectively, for the heterozygous genotype and the polymorphic minor allele). For the SNP rs10859871 (VEZT), we found a significant difference in the frequency of the homozygous genotype in the control group compared to the affected women (p = 0.0111, OR = 0.0602, 95% CI, 0.005–0.501). For the SNP rs7521902 (WNT4), no increase in genotypic or allelic frequency between the two groups was shown (p = 0.3088, OR = 0.4133, 95% CI, 0.10–1.8 and p = 0.3297, OR = 2257, 95% CI, 0.55–914, respectively, for the heterozygous genotype and the polymorphic minor allele). Conclusion: An analysis of recent publications on the genetics of endometriosis showed a discrepancy in the results obtained in different populations. In the Sardinian population, the results obtained do not show a significant association between the investigated variants of the genes and a greater risk of developing endometriosis, although several other studies in the literature have shown the opposite. Anyway, the data underline the importance of evaluating genetic variants in different populations. In fact, in different ethnic groups, it is possible that specific risk alleles could act differently in the pathogenesis of the disease