Incidence of endometriosis by study population and diagnostic method: the ENDO study
Germaine M Buck Louis, C Matthew Peterson, Rajeshwari Sundaram
Zhian Chen, Michael W Varner, Linda C Giudice, Joseph B Stanford, Buck Louis GM , Mary Croughan , Ann C. Trumble , ENDO Study Working Group , Victor Y Fujimoto , Mary L Hediger
Author affiliations (6)
Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentROR
To estimate the incidence of endometriosis in an operative cohort of women seeking clinical care and in a matched population cohort to delineate more fully the scope and magnitude of endometriosis in the context of and beyond clinical care.
Design
Matched-exposure cohort design.
Setting
Surgical centers in the Salt Lake City, Utah, and San Francisco, California, areas. PATIENT(S): The operative cohort comprised 495 women undergoing laparoscopy/laparotomy between 2007 and 2009, and the population cohort comprised 131 women from the surgical centers' catchment areas. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Incidence of endometriosis by diagnostic method in the operative cohort and by pelvic magnetic resonance imaged (MRI) disease in the population cohort. RESULT(S): Endometriosis incidence in the operative cohort ranged by two orders of magnitude by diagnostic
Method
0.7% for only histology, 7% for only MRI, and 41% for visualized disease. Endometriosis staging was skewed toward minimal (58%) and mild disease (15%). The incidence of MRI-diagnosed endometriosis was 11% in the population cohort. CONCLUSION(S): Endometriosis incidence is dependent on the diagnostic method and choice of sampling framework. Conservatively, 11% of women have undiagnosed endometriosis at the population level, with implications for the design and interpretation of etiologic research.
PMID 21719000 21719000 DOI 10.1016/j.fertnstert.2011.05.087 10.1016/j.fertnstert.2011.05.087
Cite this article
Buck Louis, G. M., Hediger, M. L., Peterson, C. M., Croughan, M., Sundaram, R., Stanford, J., Chen, Z., Fujimoto, V. Y., Varner, M. W., Trumble, A., Giudice, L. C., & ENDO Study Working Group (2011). Incidence of endometriosis by study population and diagnostic method: the ENDO study. Fertility and sterility, 96(2), 360-365. https://doi.org/10.1016/j.fertnstert.2011.05.087
Buck Louis GM, Hediger ML, Peterson CM, Croughan M, Sundaram R, Stanford J, et al. Incidence of endometriosis by study population and diagnostic method: the ENDO study. Fertil Steril. 2011;96(2):360-365. doi:10.1016/j.fertnstert.2011.05.087
Buck Louis, G. M., et al. "Incidence of endometriosis by study population and diagnostic method: the ENDO study." Fertility and sterility, vol. 96, no. 2, 2011, pp. 360-365.
Endometriosis affects approximately 10% of women of reproductive age and is associated with increased risks of infertility and miscarriage. Although the spontaneous miscarriage rate in women with endometriosis is higher than in the general population, specific risk factors and predictive markers for early pregnancy loss in this population remain poorly understood, particularly for women with smaller endometriomas who achieve natural conception. This study aimed to investigate risk factors for early spontaneous miscarriage in women with endometriosis with natural conception and evaluate the predictive value of uterine artery blood flow parameters and serum CA125 levels. This retrospective case-control study was conducted at the Fujian Maternity and Child Health Hospital and included 209 women with ovarian endometriomas smaller than 4 cm who achieved natural conception and intrauterine pregnancy between January 2022 and June 2024. Patients were divided into spontaneous miscarriage group (n = 61, 29.19%) and non-miscarriage group (n = 148, 70.81%) based on early pregnancy outcomes. All patients underwent follicular monitoring, endometrial assessment, and uterine artery blood flow evaluation starting from cycle days 9-10. All patients received uniform luteal support with dydrogesterone (20 mg daily from post-ovulation until 10 weeks of gestation). Variables analyzed included demographic characteristics, dysmenorrhea visual analog scale (VAS) scores, CA125 levels, baseline endocrine hormones, ovarian endometrioma characteristics, and uterine artery blood flow parameters including bilateral mean pulsatility index (PI), resistance index (RI), and systolic/diastolic ratio (S/D). No significant differences were observed between groups regarding age (29.08 ± 4.64 vs. 30.42 ± 5.09, P = 0.078), body mass index (23.15 ± 2.37 vs. 23.54 ± 2.80, P = 0.333), parity, or baseline endocrine parameters. The miscarriage group showed significantly higher CA125 levels (33.53 ± 11.87 vs. 25.57 ± 10.54, P < 0.001), bilateral mean S/D ratio (7.90 ± 3.26 vs. 5.56 ± 2.06, P < 0.001), bilateral mean PI (2.51 ± 0.43 vs. 2.22 ± 0.45, P < 0.001), and VAS scores (median 3.00 vs. 1.00, P < 0.001). Multivariate logistic regression analysis revealed that bilateral mean S/D ratio (OR = 1.38, 95% CI: 1.15-1.66, P < 0.001) and CA125 levels (OR = 1.08, 95% CI: 1.04-1.12, P < 0.001) were independently associated with increased risk of early spontaneous miscarriage. ROC analysis demonstrated good predictive value for S/D ratio (AUC = 0.75, cutoff = 6.49) and CA125 (AUC = 0.76, cutoff = 23.55), with improved diagnostic accuracy when combined (AUC = 0.85, sensitivity = 0.87, specificity = 0.72). Elevated serum CA125 levels and increased uterine artery S/D ratio are independently associated with increased risk of early spontaneous miscarriage in women with endometriosis with ovarian endometriomas smaller than 4 cm who conceive naturally. The combined assessment of CA125 levels and uterine artery S/D ratio during early pregnancy provides useful risk stratification for identifying high-risk patients, potentially enabling targeted interventions to improve pregnancy outcomes in these women.
Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention.
Endometriosis is a benign disease that can cause pain and infertility in women. Debate exists over how endometriosis should best be diagnosed. On one hand, endometriosis can be diagnosed by directly examining pelvic anatomy via a surgical procedure known as diagnostic laparoscopy. On the other hand, the disease can be diagnosed via non-surgical means such as using medical imaging, the symptoms described by the patient and whether the patient responds to non-surgical therapies such as medication. In this debate article, we argue in favour of diagnostic laparoscopy. We review the safety of the procedure, compare the ability of diagnostic laparoscopy vs medical imaging to detect endometriosis and consider the benefits of formally diagnosing or ruling out the condition.