Endometriosis Pathophysiology and Management

Endometriosis is a chronic, oestrogen-dependent condition in which endometrial-like tissue implants and grows outside the uterine cavity, most commonly on pelvic peritoneum, ovaries and the rectovaginal septum. Retrograde menstruation seeds viable endometrial cells into the peritoneal environment, where a dysregulated immune response fails to clear these cells and permits lesion establishment. Local oestrogen synthesis, proinflammatory cytokines and aberrant angiogenesis sustain lesion survival, provoke fibrosis and generate the hallmark symptoms of dysmenorrhoea, chronic pelvic pain and subfertility. Diagnosis combines clinical assessment, imaging modalities—principally transvaginal ultrasound and magnetic resonance imaging—and, where necessary, laparoscopic inspection with histological confirmation. Management is individualised according to severity, fertility aspirations and symptom burden. First-line medical therapies include non-steroidal anti-inflammatory drugs and combined oral contraceptives, while progestogens, gonadotrophin-releasing hormone analogues and aromatase inhibitors target hormonal pathways more directly. Surgical intervention—laparoscopic excision or ablation—can alleviate pain, restore anatomy and improve fertility outcomes but carries risks of adhesion formation and recurrence. Emerging approaches encompass novel biomarker discovery, immune-modulatory agents, targeted anti-angiogenic compounds and on-demand mechanical contraception. A multidisciplinary framework integrating gynaecology, pain management, reproductive endocrinology and psychological support is essential for optimised long-term care.

Research from Nature Portfolio

Recent studies have called for a global realignment of health policy to recognise endometriosis as a systemic inflammatory disease demanding dedicated research funding, multidisciplinary treatment pathways and public awareness campaigns. This work highlights under-diagnosis, the prolonged diagnostic delay and the need for standardised outcome measures in clinical trials. In parallel, large-scale genomic analyses have pinpointed multiple gene loci associated with endometriosis susceptibility, implicating variants in sex steroid hormone signalling pathways such as estrogen receptor and follicle-stimulating hormone genes. These findings offer a blueprint for precision medicine, suggesting that genetic risk profiles may inform early diagnosis, patient stratification and the development of targeted hormonal or gene-based therapies.

Endometriosis Pathophysiology and Management publication trend

The graph below shows the total number of articles in endometriosis pathophysiology and management across all publications each year (not limited to Nature Index journals).

Technical terms

Retrograde menstruation: Backward flow of menstrual blood through the fallopian tubes into the peritoneal cavity.

Angiogenesis: Formation of new blood vessels from pre-existing vasculature, supporting lesion growth.

Gonadotrophin-releasing hormone (GnRH) analogues: Hormonal agents that suppress ovarian oestrogen production via pituitary down-regulation.

Laparoscopy: Minimally invasive surgical technique using a camera-equipped instrument to visualise and treat intra-abdominal pathology.

Genetic locus: Specific, fixed position on a chromosome where a gene or genetic marker resides.

Biomarker: Measurable biological indicator of a physiological or pathological process or response to therapy.

References

1. Reversible Mechanical Contraception and Endometriosis Treatment Using Stimuli‐Responsive Hydrogels. Advanced Materials (2024).
2. Insights into endometriosis symptom trajectories and assessment of surgical intervention outcomes using longitudinal actigraphy. npj Digital Medicine (2025).
3. Time for global health policy and research leaders to prioritize endometriosis. Nature Communications (2023).
4. Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Nature Communications (2017).
5. ESHRE guideline: endometriosis†. Human Reproduction Open (2022).
6. Pathophysiology and Immune Dysfunction in Endometriosis. BioMed Research International (2015).
7. European society of urogenital radiology (ESUR) guidelines: MR imaging of pelvic endometriosis. European Radiology (2016).