F&S reviews最新文献

{"title":"Polyendocrine metabolic ovarian syndrome and aneuploidy in early reproduction: a systematic review and meta-analysis","authors":"Alex G. Pegg M.Sc.R.,&nbsp;Jennifer R. Gruhn Ph.D.,&nbsp;David Schütz,&nbsp;Stephen Franks M.D., F.Med.Sci,&nbsp;Eva R. Hoffmann D.Phil.","doi":"10.1016/j.xfnr.2026.100115","DOIUrl":"10.1016/j.xfnr.2026.100115","url":null,"abstract":"<div><h3>Importance</h3><div>Women with polyendocrine metabolic ovarian syndrome (PMOS) have elevated rates of pregnancy loss, but the contribution of aneuploidy is unclear.</div></div><div><h3>Objective</h3><div>We aimed to systematically review and conduct meta-analyses of the effects of PMOS on aneuploidy rates in eggs, preimplantation embryos, and pregnancy losses (PROSPERO: CRD42024590377).</div></div><div><h3>Evidence Review</h3><div>PubMed, Web of Science, and Scopus were searched until 4^th March 2026. Included studies reported aneuploidy rates in women diagnosed with PMOS under the Rotterdam, NIH, or AE-PCOS guidelines and women without PMOS. Studies including parents with structural translocations were excluded. Risk of bias was assessed using a modified Newcastle Ottawa scale and certainty of evidence was assessed using Grading of Recommendations, Assessment, Development and Evaluation (GRADE). Studies were screened, assessed for risk of bias, and assessed for certainty of evidence by two independent reviewers. Disagreements were discussed until a consensus was reached. The primary outcomes in meta-analyses were aneuploidy, complex aneuploidy, and mosaicism, and data were synthesized with random-effects meta-analyses.</div></div><div><h3>Findings</h3><div>Twelve of 2,270 studies screened were included. Aneuploidy rates were reported for eggs (one retrospective study), pregnancy losses (one prospective and three retrospective cohort studies; 808 pregnancy losses), and preimplantation embryos (one prospective and six retrospective cohort studies; &gt;5,600 embryos from 1,774 women). Meta-analysis showed that aneuploidies were not statistically different in pregnancy losses (odds ratio [OR]: 0.55, 95% confidence interval [CI]: 0.22 – 1.37) or preimplantation embryos (OR: 0.81, 95% CI: 0.57–1.15) from women of all ages with PMOS compared with those without. In studies that allowed stratification by maternal age, aneuploidy was significantly reduced in preimplantation embryos from women with PMOS &lt;38 years of age (0.66, 95% CI: 0.54–0.80). Complex aneuploidies were decreased in preimplantation embryos from women of all ages with PMOS (OR: 0.59, 95% CI: 0.38–0.91). There were no differences in the odds of mosaicism in preimplantation embryos from women with PMOS (OR: 1.41, 95% CI: 0.83–2.39). This review was restricted by the small number of studies, limited information about maternal ages, and no information regarding parental origins of aneuploidy.</div></div><div><h3>Conclusion and relevance</h3><div>Below the age of 38, preimplantation embryos from women with PMOS have significantly lower odds of aneuploidy compared with women without PMOS. This difference may be lost with further advancing maternal age and could suggest alterations to the U-curve of aneuploidy for women with PMOS. Therefore, factors other than embryonic aneuploidy must contribute to the elevated rates of pregnancy loss reported in this group.</div></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"7 2","pages":"Article 100115"},"PeriodicalIF":2.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148736317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obstructed hemivagina and ipsilateral renal anomaly syndrome: developmental pathways, candidate genes, and clinical implications: a narrative review","authors":"Natasha Driver M.D., M.H.Sc.,&nbsp;Lili Mohebbi D.O., M.S.,&nbsp;Shareen Patel M.D.,&nbsp;Cemile Gunalp M.D.,&nbsp;Samya El Sayed M.D.,&nbsp;Akanksha Suresh B.S.,&nbsp;Bhuchitra Singh M.D., M.P.H., M.S., M.BA.,&nbsp;James Segars M.D.,&nbsp;Kamaria Cayton-Vaught M.D.","doi":"10.1016/j.xfnr.2026.100114","DOIUrl":"10.1016/j.xfnr.2026.100114","url":null,"abstract":"<div><div>Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare congenital disorder arising from abnormal development of the Müllerian and mesonephric ducts that represents an important cause of obstructive reproductive tract anomalies in adolescents and young adults. Although the clinical and anatomic features of OHVIRA are well described, the genetic mechanisms underlying this condition remain poorly understood. This narrative review summarizes current evidence on the genetic architecture of OHVIRA, highlighting candidate genes, inheritance patterns, and developmental pathways involved in urogenital tract formation. Available studies demonstrate substantial heterogeneity without a consistent monogenic cause. Variants in genes implicated in mesodermal development and urogenital development, including <em>FRAS1</em>, <em>FAT1</em>, <em>CHD1L</em>, <em>WNT4</em>, <em>FOXF1</em>, <em>TGFBR3</em>, <em>TRIM32</em>, <em>PCSK5</em>, <em>RET</em>; pathogenic <em>TGFBR3</em> and rare <em>UMOD</em>, have been identified in isolated cases. Structural genomic alterations, including copy number variants affecting regions 16p11.2, 22q11.21 (with <em>CRKL</em>), and 15q11q12, further support a complex genetic contribution. Occasional familial clustering, including cases among siblings and monozygotic twins with discordant phenotypes or laterality, suggests incomplete penetrance, mosaicism, or multifactorial inheritance. Associations with skeletal, cardiac, and vascular anomalies highlight a shared mesodermal developmental origin and genetic overlap with related urogenital conditions, including Müllerian agenesis and Zinner syndrome. Overall, current evidence supports a multifactorial genetic model for OHVIRA. Integrating advanced genomic sequencing with standardized phenotyping and collaborative registries will be critical to defining the molecular basis of OHVIRA and improving early diagnosis and reproductive care.</div></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"7 2","pages":"Article 100114"},"PeriodicalIF":2.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148651442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evidence-based counseling on bilateral salpingo-oophorectomy for individuals using therapeutic testosterone: a narrative review","authors":"Emily Viera B.A.,&nbsp;David Boedeker D.O.,&nbsp;Kiley Hunkler M.D.,&nbsp;Micah Hill M.D.","doi":"10.1016/j.xfnr.2026.100111","DOIUrl":"10.1016/j.xfnr.2026.100111","url":null,"abstract":"<div><div>Our objective was to synthesize existing evidence on the risks, benefits, and long-term considerations of bilateral salpingo-oophorectomy (BSO) in individuals using therapeutic testosterone. A structured review identified studies on fertility, cardiovascular and bone health, surgical risks, hormone therapy considerations, and malignancy risk. Studies of adults undergoing BSO who used therapeutic testosterone were included. Nonhuman, pediatric/adolescent, and non-English articles were excluded. Of the 368 articles screened, 88 full texts were reviewed, and 51 met the inclusion criteria. Fertility preservation was the most frequently discussed topic. Oocyte cryopreservation is feasible, including with continued testosterone use, although long-term outcomes remain limited to case-based evidence. Available data suggest a low risk of ovarian malignancy, with no clear evidence that testosterone therapy increases cancer risk. Cardiovascular findings were mixed; some studies reported no significant changes, whereas others noted altered lipid profiles. Although testosterone generally maintains bone mass, several studies observed cortical bone loss after BSO, indicating that testosterone may not fully compensate for estrogen deficiency. Surgical complication rates were comparable with those of other populations, although data on reoperation rates were limited. The bilateral salpingo-oophorectomy counseling should be individualized and guided by current evidence, which supports continuation of testosterone therapy and suggests a low malignancy risk with ovarian retention. Clinicians should address existing uncertainties as part of shared decision-making. Further high-quality, longitudinal research is needed to guide clinical recommendations and optimize care for individuals using therapeutic testosterone who are considering BSO.</div></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"7 2","pages":"Article 100111"},"PeriodicalIF":2.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148651443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Subfertility and congenital anomalies: a systematic review and meta-analysis","authors":"Bailey M. Milne M.P.H. ,&nbsp;Tristan Derry M.Sc. ,&nbsp;Susan B. Brogly M.Sc., Ph.D. ,&nbsp;Maria P. Velez M.D., Ph.D.","doi":"10.1016/j.xfnr.2026.100108","DOIUrl":"10.1016/j.xfnr.2026.100108","url":null,"abstract":"<div><h3>Importance</h3><div>Fertility treatments have been associated with increased risks of adverse birth outcomes, including congenital anomalies. However, confounding by indication related to underlying infertility independent of fertility treatment has not been consistently accounted for in previous meta-analyses.</div></div><div><h3>Objective</h3><div>Fertility treatments have been associated with increased risks of adverse birth outcomes, including congenital anomalies. However, confounding by indication related to underlying infertility independent of fertility treatment has not been consistently accounted for in previous meta-analyses. This systematic review and meta-analysis aimed to quantify the association between subfertility and risk of congenital anomalies compared to unassisted conception.</div></div><div><h3>Evidence Review</h3><div>A systematic search of English-language studies was performed on OVID MEDLINE, Embase, and PubMed databases for studies published from earliest availability to June 30, 2025. Search terms included combinations of the following medical subject headings and keywords: congenital anomalies, subfertility, and fertility treatment.</div></div><div><h3><strong>Results</strong></h3><div>Of 2,778 unique records identified, 23 studies met inclusion criteria, representing 9,355,843 infants. Thirteen studies contributed to the meta-analysis of any anomaly, five studies to major anomalies, and two to five studies to specific anomalies. Compared to unassisted conception, offspring of women with subfertility had slightly higher odds of any congenital anomaly (OR 1.19; 95% CI, 1.14–1.24) and major anomalies (OR 1.08; 95% CI, 0.99–1.17). Among the few studies that assessed specific anomalies, higher odds of gastrointestinal anomalies (OR 1.31, 95% CI 1.13–1.50) and cleft anomalies (OR 1.24; 95% CI, 1.05–1.47) were observed. There was no evidence of publication bias.</div></div><div><h3>Conclusions and relevance</h3><div>Subfertility was associated with higher odds of congenital anomalies, including major and select organ-system and specific anomalies. These findings support the use of a subfertile comparator groups when evaluating the safety of assisted reproductive technologies to reduce confounding from infertility.</div></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"7 1","pages":"Article 100108"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148178056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Six years of Fertility and Sterility Reviews: updates and future directions","authors":"Ruben Alvero M.D.","doi":"10.1016/j.xfnr.2026.100107","DOIUrl":"10.1016/j.xfnr.2026.100107","url":null,"abstract":"","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"7 1","pages":"Article 100107"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148178055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vaginal estrogen and the prevention of recurrent urinary tract infection in postmenopausal women: a systematic review and meta-analysis of randomized controlled trials","authors":"Patricia A. Bencivenga M.S.,&nbsp;Adriane Fugh-Berman M.D.,&nbsp;Anthony R. Scialli M.D.","doi":"10.1016/j.xfnr.2026.100104","DOIUrl":"10.1016/j.xfnr.2026.100104","url":null,"abstract":"<div><h3>Objective</h3><div>Vaginal estrogen has been used for menopausal vaginal symptoms. Estrogen has been prescribed to prevent urinary tract infection, based in part on the belief that estrogen is effective and without adverse effects. We sought to find evidence supporting these beliefs in randomized controlled trials.</div></div><div><h3>Evidence review</h3><div>We performed a systematic review of randomized controlled studies of vaginal estrogen for the prevention of recurrent urinary tract infection in postmenopausal women and identified four independent studies, three of which were included in a previous review.</div></div><div><h3>Results</h3><div>Meta-analysis showed a protective effect of vaginal estrogen with a risk estimate of 0.4, 95% confidence interval 0.33 to 0.59. The single trial that did not show a benefit of vaginal estrogen used a lubricating gel as a placebo. The funnel plot suggested the possibility of publication bias. No trial included long-term endometrial safety data.</div></div><div><h3>Conclusion</h3><div>We confirmed the protective effect of vaginal estrogen for recurrent urinary tract infection, but could not identify whether lubrication is part of the protective mechanism. Endometrial safety of vaginal estrogen cannot be assumed, because no randomized placebo-controlled trials lasting more than 1 year with safety data were identified. There are data suggesting an association between vaginal estrogen and endometrial proliferation.</div></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"7 1","pages":"Article 100104"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148177897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fertility considerations in individuals affected by human immunodeficiency virus: a scoping review","authors":"Anisha R. Chada M.D. ,&nbsp;Kerri E. Andre M.D. ,&nbsp;Noor Al-Shibli M.D. ,&nbsp;Heather S. Hipp M.D.","doi":"10.1016/j.xfnr.2025.100095","DOIUrl":"10.1016/j.xfnr.2025.100095","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Objective&lt;/h3&gt;&lt;div&gt;Human immunodeficiency virus (HIV) has transformed from an almost universally terminal diagnosis to that of a chronic manageable condition over the last 4 decades. Patients of reproductive age make up the largest proportion of those with HIV. Our aim in this scoping review was to investigate how HIV sequelae, comorbidities, and antiretroviral treatment affect both male fertility and female fertility.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Evidence Review&lt;/h3&gt;&lt;div&gt;A scoping review identified relevant articles on HIV, fertility, assisted reproductive technology, and HIV treatment. Included articles had one of the following study designs: prospective; retrospective; controlled; randomized controlled; or observational. Articles were excluded if they were of inappropriate study design or published in a non-English language. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines were used to assess eligibility of studies identified through PubMed, and manuscripts were reviewed independently by 2 reviewers.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;Fifty-nine manuscripts were included in the final qualitative synthesis, including 9 prospective studies, 14 retrospective studies, 35 observational studies, and 1 clinical trial. Articles on male fertility (n = 10) mainly focused on effects of HIV and/or antiretrovirals on semen quality, finding some level of abnormality in semen parameters compared with controls. Small observational studies (n = 4) found statistically significant effects of antiretroviral therapy on semen parameters. Large observational studies (n = 2) examining outcomes for serodiscordant couples pursuing intrauterine insemination with HIV+ male partner showed pregnancy outcomes comparable to those of controls. In studies examining outcomes of in vitro fertilization for serodiscordant couples with HIV+ male partner (n = 5), pregnancy outcomes were comparable to those of controls. In female patients with HIV (n = 7), HIV infection was associated with ovarian dysfunction and/or oligomenorrhea or prolonged amenorrhea. Markers of severe disease, such as a low CD4 count or viremia, were shown to be correlated with lower antimüllerian hormone levels. Three studies illustrated how the effects of comorbidities such as history of smoking, drug use, or pelvic infections can also compound infertility in these patients. Several cohort studies (n = 13) showed increased time to pregnancy, decreased pregnancy rates with and without in vitro fertilization, and an increased risk of spontaneous abortion. Given that the current backbone of preconception and antepartum management of HIV includes dual therapy with nucleoside reverse transcriptase inhibitors (NRTIs), most of the studies (n = 7) focused on NRTI’s potential toxicities such as mitochondrial depletion in gametes. In vitro and animal studies (n = 3) have shown negative implications on oocyte fertilizability and genomic disturbances in offs","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"6 2","pages":"Article 100095"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144614276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Final oocyte maturation for in vitro fertilization: a comprehensive review with investigators’ recommendations","authors":"Evelina Manvelyan M.D. ,&nbsp;Agnes Manvelyan M.D. ,&nbsp;Kathryn Coyne M.D. ,&nbsp;Rebecca Flyckt M.D. ,&nbsp;Rachel Weinerman M.D.","doi":"10.1016/j.xfnr.2025.100096","DOIUrl":"10.1016/j.xfnr.2025.100096","url":null,"abstract":"<div><div>The use of gonadotropin-releasing hormone (GnRH) antagonist protocols in assisted reproductive technology provides various options for achieving final follicular maturation. The choice of agent should be tailored to the patient characteristics and the mechanism of action of the triggers. The two primary agents used for this purpose are human chorionic gonadotropin, which acts as a luteinizing hormone analogue, and GnRH agonist, which induces the release of internal gonadotropin stores. Although these agents aim to achieve the same goal, they differ in the mechanism of action and downstream effects. Human chorionic gonadotropin binds to the luteinizing hormone receptors in the ovarian follicles and promotes oocyte maturation and ovulation through continuous luteotropic activity. This prolonged effect can increase the risk of ovarian hyperstimulation syndrome. GnRH agonists trigger ovulation by stimulating an endogenous gonadotropin surge. This process more closely resembles natural ovulation but is transient because of the short half-life. Another option is the dual trigger approach, when human chorionic gonadotropin is combined with GnRH agonist with the aim to optimize oocyte maturation while balancing safety and efficacy. Understanding the underlying mode of action of the triggers is crucial for tailoring individualized treatment protocols, achieving optimal oocyte yield and quality, enhancing clinical outcomes while appropriately mitigating the risks. With this manuscript, we aim to provide an in-depth review of each ovulation trigger agent and their combination and summarize recommendations on the basis of the most common patient characteristics.</div></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"6 2","pages":"Article 100096"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145057084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immunocompetent mouse models of endometriosis: a systematic review and meta-analysis","authors":"John Coté M.D. ,&nbsp;Remington Coté C.P.T. ,&nbsp;Isabella Zent B.S. ,&nbsp;Kate Woods B.S. ,&nbsp;Katherine Kedeshian B.S. ,&nbsp;Mya Hendry B.S. ,&nbsp;Kaylee Dykstal M.D. ,&nbsp;Ryan W. Walters Ph.D.","doi":"10.1016/j.xfnr.2025.100091","DOIUrl":"10.1016/j.xfnr.2025.100091","url":null,"abstract":"<div><h3>Objective</h3><div>To synthesize and compare measurable parameters researchers have used in the different immunocompetent mouse models of endometriosis.</div></div><div><h3>Evidence Review</h3><div>A systematic literature search of English language studies within PubMed/MEDLINE, Scopus, and Google Scholar from inception until January 2024 was performed. We included studies that reported an immunocompetent mouse model of intra-abdominal endometriosis and recorded at least one quantifiable lesion measurement with associated SDs or standard errors.</div></div><div><h3>Results</h3><div>The systematic search retrieved 1,421 studies, of which 236 underwent a full text review. A total of 163 studies met inclusion criteria for the meta-analysis. Within the suture (n = 76 studies) and injection (n = 88 studies) models there were multiple outcomes evaluated. The overall effect for lesion weight (33.1 mg, 95% confidence interval [CI], 23.8–45.9), lesion volume (15.6 mm³, 95% CI, 12.2–19.9), lesion area (8.6 mm², 95% CI, 5.6–13.4), lesion diameter (3.8 mm, 95% CI, 2.8–5.2), and lesion number (3.33, 95% CI, 2.8–3.8). Significant heterogeneity was observed for all outcomes. Meta-regression showed BALB/c strain, days of disease, and receiving estrogen affected lesion weight, injection, days of disease, and autologous donor/recipient affected lesion volume, days of disease affected lesion area, days of disease, and myometrium plus endometrium affected lesion diameter and BALB/c, receiving estrogen, and autologous donor/recipient affected lesion number.</div></div><div><h3>Conclusion</h3><div>The degree of heterogeneity, risk of bias, and low quality of evidence emphasize the need for a call to action. Model standardization, agreed on by the clinical and translational research community, would improve reproducibility and allow for evidenced-based translational outcomes, especially in the setting of preclinical endometriosis studies.</div></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"6 2","pages":"Article 100091"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144138207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of somatic mutations in endometriosis: pathogenesis, progression, and fibrogenesis (narrative review)","authors":"Leila Adamyan Ph.D. ,&nbsp;Laura Pivazyan M.D. ,&nbsp;Maria Yurkanova M.D. ,&nbsp;Evdokiya Zarova M.D. ,&nbsp;Maria Kuznetsova Ph.D. ,&nbsp;Karina Mailova Ph.D. ,&nbsp;Dmitry Trofimov Ph.D. ,&nbsp;Assia Stepanian Ph.D.","doi":"10.1016/j.xfnr.2025.100098","DOIUrl":"10.1016/j.xfnr.2025.100098","url":null,"abstract":"<div><div>Endometriosis is a common gynecological disorder affecting 10% of reproductive-aged women, characterized by ectopic endometrial-like tissue exhibiting malignant-like behaviors including invasiveness and angiogenesis. Growing evidence identifies recurrent somatic mutations in cancer driver genes (<em>KRAS</em>, <em>ARID1A</em>, <em>PIK3CA</em>, and <em>PTEN</em>) within endometriotic lesions, suggesting their potential role in disease pathogenesis. This narrative review examines the contribution of somatic mutations to endometriosis development and fibrogenesis, their biomarker potential, and therapeutic implications. We conducted a comprehensive literature search (PubMed, Scopus, and Cochrane, encompassing all publications from the earliest available records of each database up to May 2025) focusing on next-generation sequencing–based studies of endometriotic lesions, particularly analyzing fibrotic remodeling and oxidative stress mechanisms.</div><div>Analysis of 15 key studies revealed the following: somatic mutations across all lesion subtypes (ovarian, deep infiltrating, and peritoneal); oxidative stress from retrograde menstruation and iron overload as likely mutagenic drivers promoting fibrogenesis; distinct mutational patterns between epithelial and stromal components indicating oligoclonal origins; and lesion-specific mutation profiles within individual patients suggesting independent clonal evolution. Notably, although these mutations mirror those in cancers, endometriosis typically remains benign, implying microenvironmental constraints on malignant transformation.</div><div>Somatic mutations appear actively involved in endometriosis pathogenesis and fibrogenesis rather than being incidental findings. Their detection in benign lesions underscores the disease’s molecular complexity. Further research should focus on mutation-microenvironment interactions to develop molecular classifications and targeted therapies, potentially revolutionizing endometriosis management through personalized approaches.</div></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":"6 2","pages":"Article 100098"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145473338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}