Most congenital anomalies of the vagina are rare. Vaginal anomalies include vaginal agenesis, imperforate hymen, duplication, and fusion.
Vaginal agenesis is also known as mullerian agenesis, mullerian aplasia, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Usually the distal portion of the vagina is present because it has a separate embryologic origin. As a result, an external examination is frequently normal, and diagnosis often occurs only at puberty because of a failure to menstruate, with or without pain. Amenorrhea is due to uterine agenesis. If a uterus develops, it is frequently small but may produce menstrual fluid that is unable to drain, causing pain. Vaginal agenesis can be associated with kidney abnormalities, most commonly unilateral renal agenesis. It can also be associated with skeletal abnormalities. Treatment options include self-dilation with vaginal dilators and surgical reconstruction, depending on the specifics of the anomaly. Timing of treatment is left up to the patient.
Duplication and fusion anomalies have numerous manifestations (eg, as 2 uteri, 2 cervices, and 2 vaginas, or 2 uteri with 1 cervix and 1 vagina). Girls may also have urogenital sinus anomalies, in which urinary and genital tracts open into a common channel, and cloacal anomalies, in which urinary, genital, and anorectal tracts open into a common channel. Common urogenital sinus anomalies frequently require surgical intervention to reconstruct the urethra and vagina. If the rectum is involved, it too is reconstructed. Reconstruction is preferably done during infancy in a tertiary or quaternary center. Depending on the extent of the reconstruction, cesarean delivery may be recommended when patients subsequently become pregnant.
Imperforate hymen manifests as a bulge at the location of the vaginal opening due to collection of uterine and vaginal secretions caused by maternal estrogens. Treatment of imperforate hymen is surgical drainage.
Diagnosis of most congenital anomalies of the vagina is by physical examination, ultrasonography, and retrograde contrast studies.
(See also Overview of Congenital Genitourinary Anomalies.)
