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Developmental disorders of the female reproductive tract

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Definition:

Developmental disorders of the female reproductive tract are problems in a baby girl's reproductive organs that occur while she is growing in her mother's body.

Female reproductive organs include the vagina , ovaries, uterus, and cervix .

Causes, incidence, and risk factors:

A baby starts to develop its reproductive organs between weeks 4 and 5 of pregnancy. This development continues until the 20th week of pregnancy.

The development is a complex process. Many different things can interrupt the process. How severe your baby's problem is depends on when the interruption occurred. In general, the earlier development problems occur in the womb, the more serious the problem.

Problems in the development of a girl's reproductive organs may be caused by:

• Broken or missing genes (genetic defect)
• Use of certain drugs during pregnancy

For example, some babies may have a genetic defect that prevents their body from producing a substance called 21-hydroxylase. If a developing baby girl lacks this substance, she will be born with a uterus, ovaries, and fallopian tubes, but her external genitals will look like those found on boys. See: Congenital adrenal hyperplasia

Certain drugs that the mother takes can pass into the baby's bloodstream and interfere with organ development. One drug known to do this is diethylstilbestrol (DES). Doctors once prescribed this medicine to pregnant women to prevent miscarriage and early labor. However, scientists learned that baby girls born to women who took this drug had an abnormally shaped uterus. The drug also increased the daughters' chances of developing a rare form of vaginal cancer.

Sometimes, a developmental disorder can be seen as soon as the baby is born. It may cause life-threatening conditions in the newborn. Other times, the condition is not diagnosed until the girl is older.

The reproductive tract develops close to the urinary tract and kidneys. It also develops at the same time as several other organs. As a result, developmental problems in the female reproductive tract sometimes occur with problems in other areas, including the urinary tract, kidneys, and lower spine.

Developmental disorders of the female reproductive tract include intersex and ambiguous genitalia . See the specific articles for information on these conditions.

Other developmental disorders of the female reproductive tract include:

• Cloacal abnormalities -- The cloaca is a tube-like structure. In the early stages of a baby's development, the urinary tract, rectum, and vagina all empty into this one tube. But, later in development, the three areas separate and have their own openings. If the cloaca persists as a baby girl grows in the womb, all the openings do not form. For example, a baby may be born with only one opening on the bottom of the body near the rectal area. Urine and feces cannot drain out of the body. This can cause severe pain, stomach swelling, and breathing problems. Some cloacal abnormalities may cause a baby girl to look like she has a male's penis. These birth defects are rare.
• Problems with outer (external) genitals -- Developmental problems may lead to a swollen clitoris or fused labia, which is when the folds of tissue around the opening of the vagina join together. Other problems of this type are mostly related to intersex or ambiguous genitalia.
• Imperforate hymen -- The hymen is a thin tissue that partly covers the opening to the vagina. (Some baby girls may be born without it.) 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.
• Ovarian abnormalities -- Developmental problems may cause a baby girl to have an extra ovary, extra tissue attached to an ovary, or structures called ovotestes that have both male and female tissue.
• Uterus and cervix abnormalities -- Developmental problems may cause a baby girl to be born with an extra cervix and uterus, a half-formed uterus, or a blockage of the uterus. Usually, girls born with half a uterus and half a vagina are missing the kidney on the same side of the body.
• Vaginal abnormalities -- A baby girl may be born without a vagina or have the vaginal opening blocked by a layer of cells. A missing vagina is most often due to Rokitansky-Küster-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.

References:

Emans SJ, Laufer MR, Goldstein DP. Pediatric and Adolescent Gynecology . 5th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2005.

Stenchever A. Comprehensive Gynecology . 4th ed. St. Louis, Mo: Mosby; 2001:253-67.

Walsh PC. Campbell's Urology . 8th ed. St. Louis, Mo: WB Saunders; 2002:2428-63.

• Review Date: 5/7/2007
• Reviewed By: Melanie N. Smith, M.D., Ph.D., Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA. Review provided by VeriMedHealthcare Network.

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