Müllerian Agenesis: Etiology, Diagnosis, and Management

Mullerian agenesis, a congenital malformation of the genital tract is the second most common cause of primary amenorrhea. Its etiology is poorly understood but it may be associated with renal, skeletal, and other abnormalities. The diagnosis is often made either radiologically or laparoscopically in patients in whom hormonal and karyotypic investigations for primary amenorrhea are normal. Two-dimensional ultrasound is not a reliable method of diagnosis, as exemplified by the two cases presented in this review; however, three-dimensional ultrasound may be a more sensitive diagnostic tool. The management is varied, but we conclude that the treatment of choice should be a nonsurgical approach aimed at creating a neovagina. Because of the implications for reproduction, these patients require psychological support, which should be offered as part of therapy.Target audienceGynecologists and Family PhysiciansLearning objectivesAfter completion of this article, the reader will be able to describe the pathophysiology and clinical presentation of müllerian agenesis and to list the other abnormalities associated with this condition and to outline potential treatment options for a patient with müllerian agenesis.