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Definition Return to top
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 Return to top
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:
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:
Symptoms Return to top
Symptoms vary according to the specific problem. They may include:
Exams and Tests Return to top
The doctor may notice signs of a developmental disorder right away. Such signs may include:
Karyotyping (genetic testing) may be done if the person has ambiguous genitalia. If there is swollen abdomen or a lump in the groin or abdomen, the doctor will order tests to determine the cause.
Tests may include:
Treatment Return to top
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 non-surgical 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 non-surgical 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 Return to top
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:
Outlook (Prognosis) Return to top
With expert advice, early treatment, and counseling, the outcome is usually excellent.
Possible Complications Return to top
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:
When to Contact a Medical Professional Return to top
Call for an appointment with your health care provider if your daughter has:
Call your health care provider if you are a woman who:
Prevention Return to top
For the most part, there is no known prevention.
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.
References Return to top
Diamond DA. Abnormal Sexual Differentiation. Evaluation and Management of the Newborn With Ambiguous Genitalia. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, PA: Saunders Elsevier; 2007:chap 128.
Emans SJ, Laufer MR, Goldstein DP. Pediatric and Adolescent Gynecology. 5th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2005.
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.
Katz VL. Spontaneous and Recurrernt Abormtion: Etiology, Diagnosis, Treatment. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Comprehensive Gynecology. 5th ed. Philadelphia, PA: Mosby Elsevier; 2007: chap 16.
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.
Park JM. Normal Development of the Urogenital System. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, PA: Saunders Elsevier; 2007:chap 106.Update Date: 5/12/2008 Updated by: Linda Vorvick, MD, Seattle Site Coordinator, Lecturer, Pathophysiology, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine; Susan Storck, MD, FACOG, Clinical Teaching Faculty, Department of Obstetrics and Gynecology, University of Washington School of Medicine, Chief, Eastside Department of Obstetrics and Gynecology, Group Health Cooperative of Puget Sound, Redmond, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.