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Developmental disorders of the vagina and vulva include many different structural problems that occur while the baby is developing in the mother's womb.
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.
Symptoms may include:
Finding problems with development early is important, especially when the gender is unclear (sexual ambiguity).
An examination of the outside (external) genitals may show:
An examination of the vagina may show:
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:
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 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.
Call for an appointment with your health care provider if you notice:
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.
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.
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