Clinical Characterization of Genital Tract Malformations: A Retrospective Cohort Study on Associations with...

To characterize the clinical phenotypes of congenital genital tract malformations and evaluate their associations with endometriosis (EM) and fertility outcomes.

This retrospective cohort study analyzed 306 women with congenital genital tract anomalies treated at a tertiary hospital (2011-2022). Anatomical classifications (obstructive vs non-obstructive), laparoscopically confirmed EM, and postoperative fertility were assessed. Infertility was defined as failure to achieve a clinical pregnancy after ≥12 months of unprotected intercourse.

The overall EM prevalence was 18.3% (56/306), which was significantly higher in the obstructive group than in the non-obstructive group (42.86% vs 16.49%, P=0.006). Patients with obstructive malformations developed EM at a younger age (25.22±4.02 vs 28.46±4.49 years, P=0.049) and had more severe EM stages (P=0.027). Preoperative infertility rates were comparable between the obstructive (38.10%) and non-obstructive (36.84%) groups (P=1.0). However, within the non-obstructive group, the infertility rate was significantly higher in women with EM than in those without (53.32% vs 33.19%, P=0.004). Surgical intervention significantly reduced infertility rates, with the most substantial benefit observed in the non-obstructive malformation + EM subgroup (Absolute Risk Reduction=48.94%, Number Needed to Treat=2). Vaginal septa and residual uterine horns were associated with the highest infertility risks.

Obstructive malformations are associated with early-onset, severe EM, likely facilitated by retrograde menstruation. Non-obstructive variants are linked to insidious EM progression and diagnostic delay. Timely surgical correction, particularly for septal anomalies, significantly improves fertility. Integrating MRI into diagnostic protocols and maintaining a high index of suspicion for occult malformations in adolescents with EM are crucial.