Mayer-Rokitansky-Küster-Hauser syndrome type II: A rare case report

Area of Science:

• Reproductive Medicine
• Congenital Abnormalities
• Medical Imaging

Background:

• Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital disorder characterized by uterine and upper vaginal aplasia, with normal ovaries and external genitalia.
• MRKH syndrome presents in two types: Type I (isolated) and Type II (associated with extragenital anomalies).
• Primary amenorrhea is a common presenting symptom in adolescent females with MRKH syndrome.

Observation:

• An 18-year-old female presented with primary amenorrhea and no significant past medical history.
• Pelvic ultrasound initially suspected MRKH syndrome.
• Magnetic resonance imaging (MRI) confirmed MRKH syndrome type II, detailing internal genital anatomy.

Findings:

• Transabdominal ultrasonography is a primary diagnostic tool for MRKH syndrome.
• Magnetic resonance imaging (MRI) is the gold standard for detailed anatomical assessment in MRKH syndrome.
• This case confirms the diagnostic utility of imaging modalities in identifying MRKH syndrome type II.

Implications:

• Accurate diagnosis of MRKH syndrome is crucial for appropriate management.
• Multidisciplinary care, including psychological support and surgical planning (e.g., vaginoplasty), is essential for patients with MRKH syndrome.
• Understanding MRKH syndrome subtypes aids in predicting associated anomalies and tailoring patient care.