Vaginal Atresia is a birth defect in which the vagina is closed or absent. Typically this condition does not occur alone, but is one of several developmental problems in a female baby. A baby with Vaginal Atresia most often also has Bardet-Biedl syndrome, Fraser syndrome or Rokitansky-Mayer- Küster -Hauser syndrome.
Bardet-Biedl syndrome is a rare disorder affecting many parts of the body. Loss of vision, obesity, kidney problems and intellectual disorders are common characteristics of the syndrome.
Fraser syndrome is a rare disorder affecting development starting before birth. Babies born with Fraser syndrome typically have eyes that are completely covered by skin and usually malformed, fingers and toes that are joined together, and abnormalities of the urinary tract.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder in females causing the vagina and uterus to be underdeveloped or absent. It is often associated with kidney anomalies. This condition often accompanies a cloacal malformation, the surgical treatment which includes a variety of vaginal replacement techniques.
Symptoms may include:
A small pouch or dimple where the vaginal opening should be
Failure to start having menstrual periods
Cyclical abdominal pain
Pelvic mass, if the upper vagina fills with menstrual blood
Diagnosis and Treatment
Vaginal atresia could be diagnosed during a doctor's examination soon after the child is born. If it is not detected then, often it is discovered later on if the patient fails to have a menstrual period. A doctor who thinks the patient may have vaginal atresia could do a blood test to test for the above syndromes, an ultrasound or magnetic resonance imaging. Its assessment should be a part of the routine evaluation of children born with anorectal malformation/imperforate anus
Treatment for patients with vaginal atresia includes:
Vaginal dilators, small round tubes similar to a tampon are pressed against the vaginal area on a daily basis to open the vaginal canal.
Surgery to repair the defect or create a new vagina.