Urogenital Imaging

Agenesis, uterovaginal

absence or hypoplasia of the vagina and uterus due to nondevelopment or rudimentary development of the Mullers ducts. It may occur as an isolated finding, as a congenital syndrome, or as a consequence of chromosomal defects. Uterine agenesis is most commonly seen as part of the Mayer Rokitansky Kuster Hauser syndrome, which is characterized by congenital absence of the uterus, cervix and vagina in a 46XY female with normal ovarian function. The Fallopian tubes are usually present. Absence of the vagina in those patients is often partial, and 25% of patients have a short vaginal pouch. In a few cases, the uterus is not completely absent, and small masses of smooth muscle cells resembling a rudimentary bicornuate uterus may occur. These masses rarely have a functional endometrial lining, but can give rise to cyclical pain due to obstructed menstruation. Associated urological anomalies are present in 2540% of patients, including unilateral renal agenesis. Fusion anomalies of the vertebral column are also fairly common.

Cross-sectional imaging, particular MRI or transvaginal ultrasound, confirm absence of a normal uterus and the presence of functional ovaries. The vaginal abnormality can be treated with graded vaginal dilators (if a rudimentary vaginal pouch is present) or operative vaginal reconstruction.

HH