Developmental disorders of the vagina and vulva

Definition

Developmental disorders of the vagina and vulva include many different structural problems that occur while the baby is developing in the mother's womb.

Causes, incidence, and risk factors

Abnormalities of the female vagina and vulva include:

Imperforate hymen -- The hymen is a thin tissue that partly covers the opening to the vagina. An imperforate hymen completely blocks the vaginal opening, so menstrual blood or mucus cannot flow out of the body. This often leads to painful swelling of the vagina. Sometimes the hymen has only a very small opening. This problem may not be discovered until puberty. Some baby girls are born without a hymen.

Vaginal abnormalities -- A baby girl may be born without a vagina or have the vaginal opening blocked by a layer of cells that are higher up in the vagina than where the hymen is. A missing vagina is most often due to Mayer-Rokitansky-Kuster-Hauser syndrome. In this syndrome, the baby is missing part or all of the internal reproductive organs (uterus, cervix, and fallopian tubes). Other abnormalities include having two vaginas or a vagina that opens into the urinary tract.

Problems with outer (external) genitals -- Developmental problems may cause the folds of tissue around the opening of the vagina to join together. This is called a fused labia. Other developmental problems may lead to a swollen clitoris or ambiguous genitalia.

See also:

• Intersex
• Ambiguous genitalia

Symptoms

Symptoms may include:

• Inability to empty the bladder (urinary retention)
• Lack of menstrual periods
• Painful intercourse
• Pelvic pain that comes back

Signs and tests

Finding problems with development early is important, especially when the gender is unclear (sexual ambiguity).

An examination of the outside (external) genitals may show:

• Enlarged clitoris
• One side of labia larger than the other, or unusually large on both sides
• Opening of the vagina very close to the urethra or anus
• Urethra located on the clitoris

An examination of the vagina may show:

• Abnormal "wall" of tissue (septum) in the vagina that may either partly or completely divide the vagina across or straight up and down
• Blockage of the opening of the vagina (imperforate hymen), and a bulge at the opening of the vagina
• Labia that is stuck together (fused labia)
• Missing or partially formed vagina

Treatment

• Counseling for the parents (and child, if necessary) to address concerns and provide guidance for the child's development
• Hormones (depending on the condition)
• Surgery when the child is a newborn or infant (or sometimes not until after puberty) to make the genitals match with the child's gender (with the expert advice of a geneticist or other specialist)

Expectations (prognosis)

It helps to find the problem while the child is still a newborn. Getting all of these as soon as possible can provide the child with the best outcome:

• Chromosomal studies
• Expert advice
• Treatment of the physical, emotional, and social concerns

In the past, most hermaphrodites were raised as males because their outside (external) genitals looked more masculine. However, they can grow breasts, and many get their periods (menstruate). After removing the testicles with surgery, some hermaphrodites can become pregnant and deliver normal children.

Complications

Complications can occur if the diagnosis is made late or is not correct.

It is possible for a child who has the outside (external) genitals of one gender to have internal sexual organs of the opposite sex. Sometimes, these internal sexual organs are at risk for cancer and must be surgically removed around the time of puberty.

Calling your health care provider

Call for an appointment with your health care provider if you notice:

• Abnormal genitals
• Menstruation does not begin at puberty
• Pubic hair or breasts do not develop at puberty
• Unexpected male traits

Prevention

There is no current way to prevent this condition.

Getting the right nutrition during pregnancy and avoiding exposure to illness, certain medications, and alcohol are all important for the baby to grow and develop. However, development problems may still occur, even if the mother makes every effort to ensure a healthy pregnancy.

References

Sanfilippo JS. Vulvovaginal and müllerian anomalies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 554.