Lower Vaginal Atresia

Lower vaginal atresia is when the lower portion of a girl’s vagina fails to develop properly. The lower portion of the vagina may be replaced by fibrous tissue, causing blockage. 

Causes & Risk Factors

Lower vaginal atresia is a congenital disorder, meaning it is present at birth. It occurs when the baby’s reproductive system fails to develop fully in the womb. The cause of this abnormal fetal development is not yet known.

Lower vaginal atresia is frequently associated with Mayer-von Rokitansky-Küster-Hauser's (MRKH) syndrome, a condition that causes the vagina and uterus to be absent or underdeveloped, as well as other abnormalities.

Symptoms & Types

 Symptoms may include:

• A small pouch or dimple where the vaginal opening should be
• Failure to start having periods at puberty (primary amenorrhea)
• Abdominal pain
• Vaginal obstruction
• Pelvic mass – if the upper vagina fills with menstrual blood

Diagnosis & Tests

Because the outward genitalia appear normal, the condition is often not diagnosed until puberty, when a girl fails to begin having periods.

Diagnosis starts with a thorough medical history and physical exam, including a pelvic exam.

Additional testing may include:

• Blood tests – to test for Mayer-von Rokitansky-Küster-Hauser’s (MRKH) syndrome            
• An ultrasound – to create images of the internal reproductive organs and look for abnormalities
• An MRI (magnetic resonance imaging) – to obtain more detailed imaging

Treatment & Care

Treatment depends on the individual patient and her symptoms. Treatment options may include:

• Vaginal dilators – to enlarge the existing vaginal cavity; vaginal dilators are small round tubes similar to a tampon that are pressed against the area on a daily basis to stretch the vaginal canal to a normal length. Progressively larger dilators are used as the area stretches. 

• Reconstructive surgery – to repair the defect or create a new vagina (called a vaginoplasty)