Study objective: Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging (MRI) in a 15-year-old girl with primary amenorrhea is reported.
Design: The presentation, MRI, and the subsequent evaluation and treatment of an adolescent female patient with Rokitansky syndrome are described. Correlation is made with previous clinical, pathologic, and imaging reports in the literature.
Setting: An adolescent girl with primary amenorrhea was referred to our institution for completion of her diagnostic work-up. Previous limited evaluations suggested the presence of anomalies of the genitourinary tract. Further delineation of the suspected congenital defects was necessary.
Participant: The 15-year-old female patient was evaluated by the gynecology service. Diagnostic radiology and pediatric urology were consulted.
Interventions: MRI, physical examination under anesthesia, and cystoscopy were performed. After initial nonoperative treatment, the patient underwent hysterectomy and sigmoid vaginoplasty.
Main outcome measures: The patient's primary amenorrhea was explained. Mayer-Rokitansky-Kuster-Hauser syndrome was diagnosed. Vaginal agenesis and widely separated rudimentary uterine horns were well shown by the MRI. Associated skeletal anomalies were noted. A treatment plan was initiated based on a good understanding of the anatomic defects.
Results: The MRI and physical examination firmly established the diagnosis. The patient was counseled and managed conservatively at first. Hysterectomy and vaginoplasty were subsequently performed.
Conclusions: Mayer-Rokitansky-Kuster-Hauser syndrome is an unusual müllerian-duct anomaly that is a cause of primary amenorrhea. It can be confidently and noninvasively diagnosed with MRI. The MRI demonstration of vaginal, cervical, and uterine morphology contributes significantly to treatment planning and patient management.