Vaginal Atresia : A Rare Birth Defect of the Vagina

What Is Vaginal Atresia?

Vaginal atresia is a rare congenital defect occurring when the lower portion of the vagina is not fully developed. Women with vaginal atresia will have other reproductive organs like the uterus and ovaries, but they may not be fully formed. The lower portion of the vagina may be replaced with fibrous tissue, causing a blockage.

Vaginal atresia will not be noted until a girl reaches puberty and begins menstruating despite having all other signs of puberty. This condition may also be associated with kidney or skeletal problems. The most common kidney anomalies are one missing kidney or displacement of one or both kidneys. In some cases, the kidney is fused to form a horseshoe-shaped structure. Problems with the spine, ribs, and limbs are the associated spinal anomalies.

What Causes Vaginal Atresia?

The exact cause of vaginal asteria is unknown, but many different congenital conditions and syndromes are known to cause vaginal agenesis. The most common syndrome that causes vaginal agenesis is Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), Bardet-Biedl syndrome (BBS), and Fraser syndrome.

Generally, the lower part of the vagina develops from the urogenital sinus. It is a body part present during the development of the urinary and reproductive organs. So, when the urogenital sinus fails to develop into the lower portion of the vagina, vaginal atresia occurs. In this condition, the vaginal opening may be blocked by a plug of fibrous tissue. Due to this plug, there will not be any connection between the upper and lower part of the vagina; the vagina will be shorter than normal or sometimes even missing. However, the changes affect only the internal part of the vagina, but the vulva, or external genitalia, will often remain unchanged.

What Are the Symptoms of Vaginal Atresia?

The symptoms of vaginal agenesis will not appear until females reach puberty or teenage. This is because they may have other signs of puberty and typical female development, but they may not experience menstruation due to vaginal agenesis.

In vaginal agenesis females, the external genitals look like a typical female's. But the internal genital organs will not be fully developed or may be partially formed, like a shortened vagina without a cervix at the end. The ovaries may be fully developed and functional but may be located in an abnormal position. The fallopian tubes (a connecting structure between the ovary and the uterus) may be absent or partially developed. The uterus may be partially developed or completely absent. If the tissue lining the uterus, called endometrium, is present, the females may experience monthly cramping or severe abdominal pain.

Other symptoms associated with vaginal agenesis are:

• A small dimple or pouch at the location of the vaginal opening.

• Absence of periods (amenorrhea).

• Pain during sex because of a short vaginal canal.

• Build up of menstrual blood inside the body, causing severe abdominal pain.

• Developmental issues with the kidneys and urinary tract.

• Skeletal development issues with the spine, ribs, and wrists.

• Problems with hearing.

• Congenital anomaly involving the heart, gastrointestinal tract, and limb growth.

How Is Vaginal Atresia Diagnosed?

Vaginal atresia is diagnosed by a pediatrician or gynecologist based on the medical history and a physical exam. Normally vaginal atresia is diagnosed during puberty if a girl shows all signs of puberty, like breast development and pubic and underarm hair. Yet, the menstrual periods might not have appeared. Rarely, vaginal agenesis can be diagnosed earlier when parents or a doctor notice no vaginal opening in a baby or during an evaluation for other problems. Normally, the following tests are recommended for diagnosis of vaginal agenesis:

• Blood Test for Mayer-Von Rokitansky-Kuster-Hauser’s (MRKH) Syndrome - Healthcare professionals do a karyotyping test to examine chromosomes in a blood sample of cells and to check specific genetic causes of disease. This test is commonly performed to identify MRKH syndrome. All women diagnosed with MRKH will have the karyotype 46XX.

• Magnetic Resonance Imaging (MRI) - MRI provides three-dimensional images of the reproductive tract and kidneys that help healthcare professionals to identify problems.

• Ultrasound - Ultrasound is performed to check whether the uterus and ovaries are present and if any structural abnormalities are present, and to identify if there are kidney problems.

• Other Tests - The healthcare professionals will order a few tests to check for hearing, heart, and skeleton problems.

How Is Vaginal Atresia Treated?

Treatment for vaginal atresia usually starts during the late teens or early twenties, or in some cases, it may be further delayed. Treatment for vaginal atresia is chosen depending on the individual conditions. The standard options may include no treatment or creating a vagina by vaginal dilators or surgery.

1) Vaginal Dilators - Vaginal dilation procedures are first-line treatments for lower-grade vaginal agenesis. A dilation procedure may allow the creation of a vagina without surgery. The aim is for the vagina to lengthen to a comfortable size for sexual intercourse. In some cases, surgery may be recommended to keep the vagina patent.

• Frank's Procedure - In this procedure, a graduated series of vaginal dilators are inserted into the vaginal dimple with firm pressure to expand the space between the bladder and the rectum. It is a self-dilation procedure and does not require any anesthesia or surgery. Treatment may take time, and psychological support should be available. Usually, the overall success rate is 80 %, but if the procedure fails, then surgery may be indicated.

• Vecchietti Procedure - The surgery leads to the fabrication of a neovagina within seven to ten days by employing continuous abdominal traction on the vagina. The risk of this procedure includes pain and potential vault prolapse in the long term.

2) Surgery - If the dilation procedure does not work, surgical procedures are recommended for treating vaginal atresia. During surgery, a canal is created within the tissue between the bladder and rectum.

• Tissue Graft Method - This involves taking tissues from the buttocks or lower abdomen and placing it over a mold to make the vagina. The surgeon then makes the incision to create a vaginal opening, and the mold is inserted to form the vagina. The mold is left in place for a week.

• Bowel Vaginoplasty - In this procedure, a part of the large colon is removed and sutured. Then it is attached to the remnants of the vagina, which serves as the new vaginal opening.

Conclusion

Vaginal atresia occurs when the lower part of the vagina does not develop during fetal development and may also affect the ovaries, uterus, and fallopian tubes. This condition is not identified until puberty, and it gets noticed when there is a lack of menstruation. The treatment can be surgical or non-surgical, depending on the individual condition.