Partial Cervical Agenesis and Complete Vaginal Atresia

Area of Science:

• Gynecology
• Pediatric Gynecology
• Reproductive Medicine

Background:

• Reports two cases of combined complete vaginal atresia and partial cervical agenesis.
• Highlights limitations of magnetic resonance imaging (MRI) in diagnosing complex Müllerian abnormalities.
• Emphasizes the critical need for early definitive management to prevent severe complications.

Observation:

• Two patients presented with distended endometrial cavities and cervical canals, initially misdiagnosed due to suspected vaginal septum.
• Surgical findings revealed unvisualized cervices, contradicting initial MRI interpretations.
• Both patients required neovagina creation, underscoring diagnostic challenges.

Findings:

• Partial cervical agenesis, a rare Müllerian anomaly, poses significant morbidity and mortality risks if not promptly diagnosed and treated.
• MRI, while a gold standard for Müllerian anomalies, has limitations that can impact diagnostic accuracy.
• Discrepancies between imaging and clinical/surgical findings warrant high suspicion for cervical agenesis.

Implications:

• Early and accurate diagnosis of combined vaginal atresia and cervical agenesis is crucial for preventing potentially fatal sepsis.
• Recognizing MRI limitations is vital for appropriate patient management.
• Definitive treatment is essential to avoid life-threatening sequelae in patients with these rare congenital anomalies.