Developmental disorders of the female genital tract


Definition

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

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

Alternative Names

Congenital defect - vagina, ovaries, uterus, and cervix; Birth defect - vagina, ovaries, uterus, and cervix; Developmental disorder of female reproductive tract

Causes

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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. It can be interrupted by many things. How severe your baby's problem is depends on when the interruption occurred. In general, the problem will be more widespread the earlier development problems occur in the womb. 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 an enzyme (protein) called 21-hydroxylase that the adrenal gland needs 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 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). 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 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, 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

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:

Treatment

Doctors often recommend 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 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.

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

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 (deciding that child is a boy or a girl). Treatment should include counseling for the parents. The child will also need counseling as he or she gets older.

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:

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:

When to Contact a Medical Professional

Call your provider if your daughter has:

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 medicine 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.

References

Diamond DA, Yu RN, Disorders of sexual development. In: Wein AJ, Kavoussi LR, Partin AW, Peters CA, eds. Campbell-Walsh Urology. 11th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 150.

Grinder NM, Cooper AR. Vulvovaginal and mullerian anomalies. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 554.

Katz VL, Lentz GM. Congenital abnormalities of the female reproductive tract In: Lentz GM, Lobo RA, Gershenson DM, Katz VL, eds. Comprehensive Gynecology. 6th ed. Philadelphia, PA: Elsevier Mosby; 2012:chap 11.

Keefer M. Management of abnormalities of the genitalia in girls. In: Wein AJ, Kavoussi LR, Partin AW, Peters CA, eds. Campbell-Walsh Urology. 11th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 149.

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