Most congenital anomalies of the vagina are rare. Vaginal anomalies include vaginal agenesis, imperforate hymen, duplication, and fusion.
Diagnosis of most congenital anomalies of the vagina is by physical examination, ultrasound, and retrograde contrast studies. Congenital anomalies of the vagina are often accompanied by anomalies of the cervix and uterus (1).
(See also Overview of Congenital Genitourinary Anomalies.)
Reference
1. Committee on Adolescent Health Care. ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment. Obstet Gynecol. 2018;131(1):e35-e42. doi:10.1097/AOG.0000000000002458
Vaginal Agenesis
Vaginal agenesis combined with cervical and uterine anomalies is also known as mullerian agenesis, mullerian aplasia, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Usually, the lower one-third of the vagina is present because its embryologic origin is the urogenital sinus, whereas the upper one-third of the vagina, cervix, uterus, and fallopian tubes derive from the paramesonephric ducts. 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 anomalies, most commonly unilateral renal agenesis. It can also be associated with skeletal or abdominal wall 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.
Vaginal Duplication and Fusion Anomalies
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
Imperforate hymen manifests in the neonatal period as a bulge at the location of the vaginal opening due to collection of uterine and vaginal secretions caused by maternal estrogens. Many cases go undetected until puberty when hematocolpos develops and is associated with cyclic abdominal pain.
Treatment of imperforate hymen is surgical drainage.
