STUDY QUESTION Does endometriosis prevalence differ in patients with obstructive Müllerian anomalies (OMA) versus those with nonobstructive Müllerian anomalies (NOMA), and in patients with NOMA versus those without Müllerian anomalies? SUMMARY ANSWER The quantitative synthesis of published data demonstrates a substantially increased prevalence of endometriosis in patients with OMA compared with those with NOMA, and a similar prevalence in patients with NOMA and those without Müllerian anomalies. WHAT IS KNOWN ALREADY The pathogenesis of endometriosis has not been definitively clarified yet. A higher prevalence of endometriosis in patients with OMA than in those with NOMA would support the retrograde menstruation (RM)/implantation theory, whereas a higher prevalence of endometriosis in the NOMA group than in the group without Müllerian anomalies would support the embryonic remnants/celomic metaplasia hypothesis. STUDY DESIGN, SIZE, DURATION This systematic review with meta-analysis was restricted to full-length, English-language articles published in peer-reviewed journals between 1980 and 2023. The PubMed and EMBASE databases were searched using the keyword ‘endometriosis’ in combination with ‘Müllerian anomalies’, ‘obstructive Müllerian anomalies’, ‘female genital malformations’, ‘retrograde menstruation’, ‘infertility’, ‘pelvic pain’, and ‘classification’. References from relevant publications were screened, and PubMed’s ‘similar articles’ and ‘cited by’ functions were used. PARTICIPANTS/MATERIALS, SETTING, METHODS Studies were selected if they reported the prevalence of surgically confirmed endometriosis in either individuals with OMA compared to those with NOMA, or patients with NOMA compared to those without Müllerian anomalies. Cohort and case-control studies and case series were deemed eligible for inclusion. Noncomparative studies, studies not reporting both the number of individuals with endometriosis and the total number of those with Müllerian anomalies or with other gynecological conditions, those including exclusively data on patients with absent or uncertain menstrual function (e.g. complete Müllerian agenesis category), or with imperforate hymen were excluded. Two reviewers independently abstracted data. The risk of bias was assessed with the Risk of Bias In Non-randomized Studies of Exposures tool. The overall certainty of the evidence was graded according to the Grading of Recommendations Assessment, Development and Evaluation (GRADE) guidelines. MAIN RESULTS AND THE ROLE OF CHANCE Seven retrospective studies were included. The overall mean estimate of endometriosis prevalence was 47% (95% CI, 36–58%) in patients with OMA, and 19% (95% CI, 15–24%) in patients with NOMA, with a common odds ratio (OR) of 4.72 (95% CI, 2.54–8.77). The overall mean estimate of endometriosis prevalence in patients with NOMA was 23% (95% CI, 20–27%), and that in patients without Müllerian anomalies was 21% (95% CI, 20–22%), with a common OR of 0.95 (95% CI, 0.57–1.58). The overall certainty of the evidence according to GRADE guidelines was judged as low for both comparisons. LIMITATIONS, REASON FOR CAUTION Some NOMA subtypes may create a partial obstacle to menstrual efflux and/or generate dysfunctional myometrial contractions that favor transtubal reflux, thus increasing the risk of endometriosis and limiting the difference between OMA and NOMA. As infertility and pelvic pain are strongly associated with endometriosis, women with these symptoms are inappropriate controls. Confounding by indication could explain the lack of difference in endometriosis prevalence between patients with NOMA and those without Müllerian anomalies. WIDER IMPLICATIONS OF THE FINDINGS The results of this meta-analysis support the validity of the RM theory but do not definitively rule out alternative hypotheses. Thus, RM may be considered the initiator for the development of endometriotic lesions, while not excluding the contribution of both inheritable and tissue-specific genetic and epigenetic modifications as disease-promoting factors. STUDY FUNDING/COMPETING INTEREST(S) No funding was received for this review. P.Ve. is a member of the Editorial Board of Human Reproduction Open, the Journal of Obstetrics and Gynaecology Canada, and the International Editorial Board of Acta Obstetricia et Gynecologica Scandinavica; has received royalties from Wolters Kluwer for chapters on endometriosis management in the clinical decision support resource UpToDate; and maintains both a public and private gynecological practice. E.S. discloses payments from Ferring for research grants and honoraria from Merck-Serono for lectures. All other authors declare they have no conflict of interest. REGISTRATION NUMBER N/A.

中文翻译：

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苗勒氏管异常和子宫内膜异位症作为逆行月经/着床和胚胎残余/体腔化生致病理论的潜在解释模型：系统评价和荟萃分析

研究问题 梗阻性苗勒管异常 (OMA) 患者与非梗阻性苗勒管异常 (NOMA) 患者以及 NOMA 患者与无苗勒管异常患者之间的子宫内膜异位症患病率是否存在差异？摘要答案 已发表数据的定量综合表明，与 NOMA 患者相比，OMA 患者的子宫内膜异位症患病率显着增加，并且 NOMA 患者和无苗勒氏管异常患者的患病率相似。已知信息 子宫内膜异位症的发病机制尚未明确阐明。 OMA 患者的子宫内膜异位症患病率高于 NOMA 患者，支持逆行月经 (RM)/着床理论，而 NOMA 组子宫内膜异位症患病率高于无苗勒管异常组，支持胚胎残余/体腔细胞理论化生假说。研究设计、规模、持续时间 这项荟萃分析系统综述仅限于 1980 年至 2023 年间在同行评审期刊上发表的英文全文文章。使用关键字“子宫内膜异位症”组合搜索 PubMed 和 EMBASE 数据库包括“苗勒管异常”、“阻塞性苗勒管异常”、“女性生殖器畸形”、“月经逆行”、“不孕症”、“盆腔疼痛”和“分类”。筛选了相关出版物的参考文献，并使用了 PubMed 的“相似文章”和“被引用”功能。参与者/材料、背景、方法 如果研究报告了 OMA 患者与 NOMA 患者相比，或 NOMA 患者与无苗勒氏管异常患者相比，经手术证实的子宫内膜异位症的患病率，则选择这些研究。队列和病例对照研究以及病例系列被认为符合纳入条件。非比较性研究，即未报告子宫内膜异位症患者人数和苗勒氏管异常或其他妇科疾病患者总数的研究，这些研究仅包括月经功能缺失或不确定（例如完全苗勒氏管发育不全类别）患者的数据，或排除处女膜闭锁。两名评审员独立提取数据。使用非随机暴露研究中的偏倚风险工具评估偏倚风险。证据的总体确定性根据建议评估、制定和评价分级 (GRADE) 指南进行分级。主要结果和机会的作用 纳入了七项回顾性研究。 OMA 患者子宫内膜异位症患病率的总体平均估计值为 47%（95% CI，36-58%），NOMA 患者子宫内膜异位症患病率为 19%（95% CI，15-24%），共同比值比（OR ）为 4.72（95% CI，2.54–8.77）。 NOMA 患者子宫内膜异位症患病率的总体平均估计值为 23%（95% CI，20-27%），无苗勒管异常患者的子宫内膜异位症患病率为 21%（95% CI，20-22%），共同 OR为 0。95（95% CI，0.57–1.58）。根据 GRADE 指南，两次比较的证据总体确定性均被判定为较低。局限性和注意理由 某些 NOMA 亚型可能会对月经流出造成部分障碍和/或产生有利于经输卵管反流的功能失调的子宫肌层收缩，从而增加子宫内膜异位症的风险并限制 OMA 和 NOMA 之间的差异。由于不孕症和盆腔疼痛与子宫内膜异位症密切相关，因此有这些症状的女性不适合作为对照。适应症的混淆可以解释 NOMA 患者和无苗勒氏管异常患者之间子宫内膜异位症患病率缺乏差异的原因。研究结果的更广泛意义 这项荟萃分析的结果支持 RM 理论的有效性，但并没有明确排除其他假设。因此，RM可能被认为是子宫内膜异位病变发展的始作俑者，同时不排除可遗传的和组织特异性的遗传和表观遗传修饰作为疾病促进因素的贡献。研究资助/竞争利益 本次审查未收到资助。 P.Ve。是《人类生殖开放》、《加拿大妇产科杂志》的编辑委员会成员，以及《Acta Obstetricia et Gynecologica Scandinavica》国际编辑委员会的成员；已收到 Wolters Kluwer 临床决策支持资源 UpToDate 中有关子宫内膜异位症管理章节的版税；并维持公立和私立妇科诊所。 ES 披露了 Ferring 支付的研究补助金和 Merck-Serono 支付的讲座酬金。所有其他作者均声明他们没有利益冲突。注册号 不适用。加拿大妇产科杂志和 Acta Obstetricia et Gynecologica Scandinavica 国际编辑委员会；已收到 Wolters Kluwer 临床决策支持资源 UpToDate 中有关子宫内膜异位症管理章节的版税；并维持公立和私立妇科诊所。 ES 披露了 Ferring 支付的研究补助金和 Merck-Serono 支付的讲座酬金。所有其他作者均声明他们没有利益冲突。注册号 不适用。加拿大妇产科杂志和 Acta Obstetricia et Gynecologica Scandinavica 国际编辑委员会；已收到 Wolters Kluwer 临床决策支持资源 UpToDate 中有关子宫内膜异位症管理章节的版税；并维持公立和私立妇科诊所。 ES 披露了 Ferring 支付的研究补助金和 Merck-Serono 支付的讲座酬金。所有其他作者均声明他们没有利益冲突。注册号 不适用。