Müllerian Agenesis: Diagnosis, Treatment, and Future Fertility

Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser syndrome is typically diagnosed during adolescence when the individual presents with primary amenorrhea. Despite ongoing research, its etiology remains elusive. It is one of the most common congenital anomalies of the reproductive tract and thus it is important for the clinician to gain familiarity with its diagnosis and management. Mullerian agenesis must be differentiated from complete androgen insensitivity syndrome and obstructive anomalies such as low transverse vaginal septum in which the management differs significantly. Throughout the years innumerable techniques have been devised to create a vagina. Both the nonsurgical and surgical modes of creating a vagina are described in this chapter. The success of these therapies, in large part is due to the continuing education of the patient. Finally, reproductive options for patients with mullerian agenesis are reviewed.