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Developmental disorders of the female reproductive tract


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.


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 (when the folds of tissue around the opening of the vagina are joined together). Most other problems of the outer genitals are related to intersex or ambiguous genitalia.
  • Imperforate hymen -- The hymen is a thin tissue that partly covers the opening to the vagina. An imperforate hymen completely blocks the vaginal opening. This often leads to painful swelling of the vagina. Sometimes, the hymen has only a very small opening or tiny small holes. This problem may not be discovered until puberty. Some baby girls are born without a hymen.
  • Ovarian problems -- A baby girl may have an extra ovary, extra tissue attached to an ovary, or structures called ovotestes that have both male and female tissue.
  • Uterus and cervix problems-- A baby girl may 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 problems-- 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-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, a heart shaped uterus, and a uterus with a wall in the middle of the cavity


Symptoms vary according to the specific problem. They may include:

  • Breasts do not grow
  • Cannot empty the bladder
  • Lump in the stomach area, usually due to blood or mucus that cannot flow out
  • Menstrual flow that occurs despite using a tampon (a sign of a second vagina)
  • Monthly cramping or pain, without menstruation
  • No menstruation (amenorrhea)
  • Pain with sex
  • Repeated miscarriages or preterm births (may be due to an abnormal uterus)

Exams and Tests

The doctor may notice signs of a developmental disorder right away. Such signs may include:

  • Abnormal vagina
  • Abnormal or missing cervix
  • Bladder on the outside of the body
  • Genitals that are hard to identify as a girl or boy (ambiguous genitalia)
  • Labia that are stuck together or unusual in size
  • No openings in the genital area or a single rectal opening
  • Swollen clitoris

The belly area may be swollen or a lump in the groin or abdomen may be felt. The doctor may notice the uterus does not feel normal.

Tests may include:

  • Endoscopy of the abdomen
  • Karyotyping (genetic testing)
  • Hormone levels, especially testosterone and cortisol
  • Ultrasound or MRI of the pelvic area.
  • Urine and serum electrolytes


Doctors often recommend surgery for girls with developmental problems of the internal reproductive organs. For example, a blocked vagina can usually be corrected with surgery.

If the baby girl is missing a vagina, the doctor may prescribe a dilator when the child reaches young adulthood. A dilator is a device that helps stretch or widen the area where the vagina is supposed to be. This nonsurgical process takes from 4 to 6 months. Surgery may also be done to create a new vagina. Surgery should be done when the young woman is able to use a dilator to keep the new vagina open.

Doctors have reported good results with both surgical and nonsurgical techniques.

Treatment of cloacal abnormalities usually involves multiple complex surgeries to fix any problems with the rectum, vagina, and urinary tract.

If the birth defect causes life-threatening complications, the first surgery is done shortly after birth. Surgeries for other developmental reproductive disorders may also be done while the baby is an infant. Some surgeries may be delayed until the child is much older.

Early recognition is important, particularly in cases of ambiguous genitalia. Careful consideration should be given before assigning a gender -- that means, before you decide that child is a boy or girl. Treatment should include counseling for the parents and, eventually, the child. For specific treatment information, see the articles on intersex and ambiguous genitalia.

Support Groups

Support is important for families of children who are diagnosed with abnormalities of the sexual and reproductive organs. Experts also recommend counseling and support groups for the children themselves, as they get older.

Different support groups may differ in their thoughts regarding this very sensitive topic. Look for one that supports your thoughts and feelings on the topic.

Support organizations include:

  • CARES Foundation -- www.every1cares.org
  • Congenital Adrenal Hyperplasia Education and Support Network -- www.congenitaladrenalhyperplasia.org
  • DES Action USA -- www.desaction.org
  • Intersex Society of North America -- www.isna.org

Possible Complications

Cloacal abnormalities can cause life-threatening complications at birth.

Potential complications may develop if the diagnosis is made late or is wrong. Children with ambiguous genitalia who are assigned one gender may later be found to have internal organs related to the sex opposite from which they were raised. This can cause severe psychological distress.

Undiagnosed problems in a girl's reproductive tract can lead to infertility and sexual difficulties.

Other complications that occur later in life include:

  • Endometriosis
  • Going into labor too early (preterm delivery)
  • Painful abdominal lumps requiring surgery
  • Repeated miscarriages

When to Contact a Medical Professional

Call for an appointment with your health care provider if your daughter has:

  • Abnormal-looking genitals
  • Male traits
  • Monthly pelvic pain and cramping, but does not menstruate
  • Not started menstruation by age 16
  • No breast development at puberty
  • No pubic hair at puberty
  • Unusual lumps in the abdomen or groin


Pregnant women should be extremely careful not to handle any substances that contain male hormones. It is also important for pregnant women to check before taking any type of medication or supplements such as DHEA.

However, development problems with a baby may still occur, even if the mother makes every effort to ensure a healthy pregnancy.


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Katz VL, Lentz GM. Congenital abnormalities of the female reproductive tract. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Comprehensive Gynecology. 5th ed. Philadelphia, Pa: Mosby Elsevier; 2007:chap 12.

Niebyl JR, Simpson JL. Drugs and environmental agents in pregnancy and lactation: embryology, teratology, epidemiology. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Comprehensive Gynecology. 5th ed. Philadelphia, Pa: Mosby Elsevier; 2007:chap 8.

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