Developmental disorders of the female genital tractCongenital defect - vagina, ovaries, uterus, and cervix; Birth defect - vagina, ovaries, uterus, and cervix; Developmental disorder of female reproductive 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:
- Broken or missing genes (genetic defect)
- Use of certain drugs during pregnancy
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. Some babies with this syndrome have difficulties with the concentration of salts in their urine. It is very important that this issue be diagnosed early.
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.
In some cases, 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:
Other developmental disorders of the female reproductive tract include:
- Cloacal abnormalities: The cloaca is a tube-like structure. In the early stages of development, the urinary tract, rectum, and vagina all empty into this single tube. Later, the 3 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 and separate. 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 stomach swelling. Some cloacal abnormalities may cause a baby girl to look like she has a penis. These birth defects are rare.
- Problems with external genitals: Developmental problems may lead to a swollen clitoris or fused labia. Fused labia is a condition where the folds of tissue around the opening of the vagina are joined together. Most other problems of the outer genitals are related to intersex and 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. This is not considered abnormal.
- 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 one half a uterus and one half a vagina are missing the kidney on the same side of the body. More commonly, the uterus can form with a central "wall" or septum in the upper portion of the uterus. A variant of this defect occurs when the patient is born with a single cervix but two uteri. The upper uteri sometimes do not communicate with the cervix. This leads to swelling and pain. All uterine abnormalities can be associated with fertility issues.
- 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-Kuster-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 2 vaginas or a vagina that opens into the urinary tract. Some girls may have a heart-shaped uterus or 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 pelvic area, usually due to blood or mucus that cannot flow out of the uterus
- 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 provider 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 provider may notice the uterus does not feel normal.
Tests may include:
- Endoscopy of the abdomen
- Genomic sequencing (genetic testing)
- Hormone levels, especially testosterone and cortisol
- Ultrasound or MRI of the pelvic area
- Urine and serum electrolytes
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 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 detection 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.
More information and support for people with genital herpes condition and their families can be found at:
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:
Going into labor too early (preterm delivery)
Painful abdominal lumps requiring surgery
When to Contact a Medical Professional
Call your 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 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.
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Kaefer M. Management of abnormalities of the genitalia in girls. In: Partin AW, Dmochowski RR, Kavoussi LR, Peters CA, eds. Campbell-Walsh-Wein Urology. 12th ed. Philadelphia, PA: Elsevier; 2021:chap 47.
Nithiphaisal R, Diamond DA. Disorders of sexual development: etiology, evaluation, and medical management. In: Partin AW, Dmochowski RR, Kavoussi LR, Peters CA, eds. Campbell-Walsh-Wein Urology. 12th ed. Philadelphia, PA: Elsevier; 2021:chap 48.