Müllerian Anomalies: Presentation, Diagnosis, and Counseling

Müllerian anomalies represent a complex collection of developmental defects occurring in up to 5% of the general population. They are increasingly more common in individuals with infertility (8.0%) and in those with a history of pregnancy loss (13.3%); they have the highest prevalence in individuals with a history of both (24.5%). A wide spectrum of anomalies can occur based on the stage at which müllerian development ceases in utero, ranging from mild (eg, a partial uterine septum) to severe, with complete absence of the cervix, uterus, and fallopian tubes (eg, müllerian agenesis). The components of the reproductive tract involved and, importantly, whether an obstruction of the tract is involved correlates with the timing of presentation, the constellation of associated symptoms, and the necessity for either medical or surgical management. Individuals, regardless of the severity of the defect, should be counseled on the gynecologic, reproductive, and obstetric risks associated with their specific müllerian anomaly to minimize adverse sequela and outcomes. We will review the clinical presentation, diagnostic evaluation, and clinical counseling of individuals with müllerian anomalies.