Definition

Vaginal atresia is a congenital condition that causes the vagina to be incompletely formed, with the vaginal opening either closed or only partially open. In some cases, the uterus may also not develop properly. Vaginal atresia is rare, occurring in 1 in 5,000 to 10,000 women.

Many women do not realize they have this abnormality until puberty. Vaginal atresia is usually detected in adolescence due to menstrual disorders, such as delayed menstruation or absence of menstruation. This condition is associated with several other rare syndromes, including:

• Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A rare condition where the vagina and uterus do not develop properly, although the ovaries and external genitalia function well.
• Bardet-Biedl Syndrome: A genetic disorder affecting various organs.
• Kaufman-McKusick Syndrome: A congenital condition affecting the development of the hands, feet, heart, and reproductive system.
• Fraser Syndrome: A rare genetic disorder characterized by abnormalities of the eyelids, fingers, genitals, and urinary tract.
• Winters Syndrome: A condition involving abnormalities of the kidneys, genitals, and hearing function.

Because it is a congenital condition, it is often accompanied by other health problems such as infertility, hearing abnormalities, kidney disorders, and self-confidence issues.

Due to its rarity, many people are unaware of vaginal atresia. Raising awareness of this condition is therefore necessary in order to ensure prompt medical intervention in the event that the disease is detected early.

Causes

The exact cause of vaginal atresia is still unknown. Since it is a congenital disease, it is believed to result from chromosomal abnormalities or genetic mutations during the formation of the vagina in pregnancy.

The structure called the Mullerian duct should develop properly by the 20th week of pregnancy, forming the vagina and uterus. However, in vaginal atresia, the Mullerian duct does not develop correctly, resulting in incomplete formation of the vagina.

Risk Factor

Due to the unclear causes, more research is needed to determine factors that may increase the risk of a baby being born with vaginal atresia. Children with other birth defects are at risk of vaginal atresia.

Symptoms

As previously mentioned, most cases of vaginal atresia go undetected and cause no symptoms until adolescence or puberty. The first symptom that may indicate vaginal atresia is menstrual disorders. The child may also complain of abdominal pain, urinary issues, or back pain. In adult women, they may experience infertility issues or difficulties during sexual intercourse.

However, if thorough screening is done at birth, doctors may suspect vaginal atresia if there is a mass/lump in the abdomen, sepsis (infection causing multiple organ damage), or severe respiratory distress. However, newborns with vaginal atresia often do not show symptoms.

Diagnosis

Medical Interview

For patients presenting in adolescence or adulthood, doctors will ask about:

• Main and accompanying complaints (e.g., lower abdominal pain, etc.)
• Menstrual history
• History of puberty signs such as pubic and armpit hair growth
• Birth history
• Family medical history

Physical Examination

The doctor will then perform a physical examination, including checking the patient's vital signs (blood pressure, pulse, respiration, temperature, etc.) and examining the entire body. The doctor will conduct a local examination of the patient's vagina by:

• Checking for anatomical abnormalities in the vaginal opening and shape.
• Ensuring there is no discharge from the vagina.
• Observing signs of puberty, such as pubic or armpit hair growth.

For minors, doctors will request parental permission before conducting the examination.

Additional Examinations

If necessary, the doctor may conduct additional tests, such as:

• Blood tests to check for chromosomal abnormalities, hormonal issues, and other possible conditions.
• Imaging tests such as:
• Ultrasonography (USG): To check the uterus, ovaries, and kidneys.
• Magnetic Resonance Imaging (MRI): Provides detailed images of internal organs, but not all facilities have MRI equipment, so it is rarely performed unless necessary.
• Other tests to screen other organs such as bones, heart, and hearing function. The doctor will determine the appropriate tests to help diagnose vaginal atresia

Management

Management of vaginal atresia is usually done in late adolescence or early twenties. You and your doctor can discuss the appropriate treatment procedures based on each patient's health condition.

Self-Dilation

Self-dilation is the first-line treatment to make the vaginal opening more elastic. A dilator, a tube-shaped device similar to a small tampon, is inserted into the vagina regularly to make the opening more elastic. Patients may use lubricants to aid healing.

Surgical Procedures

Surgical procedures or vaginoplasty are other treatment options, usually performed if self-dilation is unsuccessful. Various types of vaginoplasty include:

• Using skin grafts: A plastic surgeon will take skin tissue from another part of the body, such as the buttocks, lower abdomen, or thighs, to create the vagina. After the surgery, a dilator will be placed in the vaginal opening to keep it elastic. The dilator can be removed during urination, defecation, or sexual intercourse. Consult your doctor for the duration of dilator use after surgery.
• Vecchietti procedure: A minimally invasive procedure to create a neovagina using an olive-shaped device inserted into the vaginal dimple.
• Using partial bowel tissue (bowel vaginoplasty): In this procedure, a surgeon will transfer part of the colon tissue to the genital area to create a new vagina. Patients will still use a dilator after surgery and may need lubrication during sexual intercourse.

Complications

Because vaginal atresia is often associated with other conditions, such as the syndromes mentioned above, its complications are related to the symptoms and complications of these diseases, including:

• Kidney problems
• Hearing disorders
• Umbilical hernia
• Central obesity (abdominal obesity)
• Developmental abnormalities
• Self-esteem issues

Each case of vaginal atresia must be taken seriously and monitored long-term.

Prevention

Since the cause is unknown and occurs during fetal development, pregnant women should consume a balanced diet to meet nutritional needs. Additional vitamins may be necessary, and pregnant women should avoid smoking and alcohol consumption.

Regular screening and prenatal check-ups are essential to detect abnormalities leading to vaginal atresia early for timely intervention.

When to See a Doctor?

Vaginal atresia is typically detected at birth. However, consult a doctor for menstrual delays or absences during puberty. Visit the nearest general practitioner, who will refer you to a gynecologist or plastic surgeon for further management.

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