Supervisors info:
Θεόδωρος Τρουπής, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Δημήτριος Φιλίπου, Επ. Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Δημοσθένης Χρυσικός, Επ. Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Summary:
Introduction/Purpose: Female genital tract malformations consist a heterogeneous group of miscellaneous deviations from normal anatomy resulting from maldevelopment of Müllerian or paramesonephric ducts, caused by genetic errors or by teratogenic events during embryonic development. Minor abnormalities may be of little consequence, but major abnormalities may lead to severe impairment of menstrual and reproductive functions and can be associated with anomalies of the urinary tract. The present study reviews the recent literature related to these anomalies as well as their clinical significance.
Methodology: PubMed and Scopus databases were reviewed as well as data from bibliographic sources and UpToDate. The publications were selected to be considered on the basis of prevalence, classification, etiopathogenesis, diagnostic method or treatment of the pathology presented. This study aims mainly to present the various congenital anomalies of the female genital tract and evaluate their clinical significance.
Results: Congenital anomalies of the female genital tract (CUAs) are the result of disturbances during fetal life, concerning the development, formation or fusion of the Müllerian ducts. Possibly they are caused by a shift in the expression pattern of developmental genes, such as HOX9-11,13. Even though mostly asymptomatic, they may lead to symptoms such as pelvic pain, prolonged or otherwise abnormal bleeding at the time of menarche, recurrent pregnancy loss, or preterm birth, and thus may be identified in patients, including adolescents, who present with these disorders Their prevalence is 5.5% in unselected population, 8% in infertile women, 12.5% in patients with a history of miscarriage, and 24.5% in patients with miscarriage and infertility. Furthermore, the existing bibliography suggests that there is no universally accepted classification system for CUAs; this is problematic because it doesn’t allow physicians to codify the symptomatology, treatment, and outcome of affected patients and more accurately compare their research data with that of others. Diagnostic methods of choice are 3D U/S and MRI. Laparoscopy and endoscopy are reserved for treatment when needed. Renal anomalies are found in 20-30% of these patients.
Conclusion: The practicing gynecologist should be aware of the sequelae of these congenital abnormalities, since failure to manage them promptly may have long-term implications for the psychological, sexual and reproductive health of such patients. In parallel, it is of utmost importance that a multidisciplinary team is involved for the pre-operative management, surgical approach and follow-up, so that a lege artis approach of these patients might be achievable.
Keywords:
Congenital uterine malformations, Prevalence, Classification, Molecular biology, Diagnosis, Treatment, Impact on health and reproduction
