Congenital anomalies of the vulva and vagina

What are congenital anomalies of the vulva and vagina?

Anomalies of the vulva include:

• Childhood asymmetry labium majus enlargement (CALME), in which the outer vaginal lips (labia majora) become swollen or enlarged on one side by excess tissue growth, leading to an asymmetrical appearance

• Labial hypoplasia, in which one side of the labia is smaller or absent

Anomalies of the vagina include:

• Imperforate or microperforate hymen

• Lower vaginal atresia, in which the lower portion of the vagina fails to develop properly and may be replaced by fibrous tissue that causes blockage

• Obstructed hemi-vagina with ipsilateral renal agenesis (OHVIRA), a complex condition in which a girl is born with: a double uterus; a double vagina, with one side obstructed by a wall of tissue that may block menstrual blood from flowing out of the body; and a missing kidney

• A transverse vaginal septum, or horizontal “wall” of tissue, formed during embryologic development that essentially creates a blockage of the vagina – a large percentage of females with this condition have a small hole within the septum, so they may have regular menstrual periods, although the periods may last longer than normal

• Vaginal agenesis, or complete absence of a vagina at birth,  may be one symptom of a broader condition involving several abnormalities of the reproductive system including:

  • Mayer-von Rokitansky-Küster-Hauser's Syndrome (MRKH) – a condition that causes the vagina and uterus to be absent or underdeveloped, as well as other abnormalities

  • MURCS association – a condition that includes MRKH syndrome abnormalities as well as several others, including spine abnormalities, short stature and kidney defects

  • Complete androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries

  • Mixed Gonadal Dysgenesis

• Vertical or complete vaginal septum, a condition in which there is a wall of tissue running vertically up and down the length of the vagina, dividing it into two separate cavities.

What are the signs and symptoms of congenital anomalies of the vulva and vagina?

Symptoms of congenital anomalies of the vulva include:

• An asymmetric appearance

• Enlargement of certain tissues

• Possible discomfort

Symptoms of lower vaginal atresia 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

Symptoms of OHVIRA include:

• Pelvic pain

• Painful periods (dysmenorrhea)

• Vaginal or pelvic mass

• Irregular bleeding

• Unusual vaginal discharge

• Vomiting

• Constipation

• Fever

Symptoms of a transverse vaginal septum include:

• No monthly periods (amenorrhea)

• Periods that last beyond the normal four to seven day cycle

• Abdominal pain, caused by blood collecting in the upper vagina, the part above the wall

Symptoms of vaginal agenesis include:

• A small pouch or dimple where the vaginal opening should be

• Failure to start having periods at puberty (primary amenorrhea)

Symptoms of a vertical or complete vaginal septum include:

• No symptoms in some girls

• Difficulty using tampons

• Difficulties or discomfort during intercourse

How are congenital anomalies of the vulva and vagina diagnosed?

Some are diagnosed at delivery, however, most of these conditions are not diagnosed until puberty, when a girl fails to get her period or experiences menstrual irregularities or pain. Others aren’t diagnosed until a woman has trouble getting pregnant.

These conditions can be diagnosed by a combination of the following:

• Pelvic exam by a gynecologist

• Pelvic and/or abdominal ultrasound

• Pelvic MRI

• Vaginoscopy – which uses a tiny telescope inserted into the vagina to view the vaginal vault and cervix

How are congenital anomalies of the vulva and vagina diagnosed treated?

Some birth defects of the vulva or vagina may need no treatment and not interfere with a woman’s fertility. For conditions that do cause problems with fertility, menstruation or sexual relations, medication and/or surgery can be effective.

Childhood asymmetry labium majus can be treated with surgery, and labial hypoplasia has no long-term medical complications, but if a young woman is distressed by the appearance of her labia, she can have a procedure to reduce the larger side to the size of the smaller or non-existent side.

Lower vaginal atresia treatment options include:

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

Complete vaginal agenesis (as part of MRKH or CAIS) treatment options include:

• Vaginal dilation

• Reconstructive surgery with a graft

Treatment for OHVIRA and transverse vaginal septum typically includes surgery to remove the wall of tissue blocking the vagina. This improves menstrual flow and reduces complications with fertility and pregnancy.

Treatment for vertical vaginal septum may include observation only if the condition isn’t causing any pain or complications with tampon use or sexual activity. Surgery is usually recommended to remove the wall of tissue, creating a single vagina, for ease with tampon use and sexual activity.