Developmental disorders of the female genital tract


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

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 continues until the 20th week of pregnancy.

The development is a complex process. Many things can affect this process. How severe your baby's problem is depends on when the interruption occurred. In general, if the problems occur earlier in the womb, the effect will be more widespread. Problems in the development of a girl's reproductive organs may be caused by:

For example, some babies may have a defect in their genes that prevents their body from producing an enzyme called 21-hydroxylase. The adrenal gland needs this enzyme to make hormones such as cortisol and aldosterone. This condition is called congenital adrenal hyperplasia. If a developing baby girl lacks this enzyme, she will be born with a uterus, ovaries, and fallopian tubes. However, her external genitals will look like those found on boys.

Certain medicines that the mother takes can pass into the bloodstream of the baby and interfere with organ development. One medicine known to do this is diethylstilbestrol (DES). Health care providers 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 medicine 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. These areas may include the urinary tract, kidneys, intestine, and lower spine.

Developmental disorders of the female reproductive tract include intersex and ambiguous genitalia.

Other developmental disorders of the female reproductive tract include:


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

Exams and Tests

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

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

Tests may include:


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

If the baby girl is missing a vagina, the provider 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 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.

Good results have been reported with both surgical and nonsurgical methods.

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

If the birth defect causes fatal 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. The provider should check carefully before deciding that the child is a boy or a girl. This is also called assigning a gender. Treatment should include counseling for the parents. The child will also need counseling as they get older.

Support Groups

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

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

Support organizations include:

Possible Complications

Cloacal abnormalities can cause fatal 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:

When to Contact a Medical Professional

Call your provider if your daughter has:


Pregnant women should not take any substances that contain male hormones. They should check with the provider before taking any type of medicine or supplements.

Even if the mother makes every effort to ensure a healthy pregnancy, development problems in a baby may still occur.

Review Date: 9/28/2017
Reviewed By: John D. Jacobson, MD, Professor of Obstetrics and Gynecology, Loma Linda University School of Medicine, Loma Linda Center for Fertility, Loma Linda, CA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

This information should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. © 1997- 2007 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.