Locations Main Campus: Chesterfield, MO 63017   |   Locations
314-434-1500 314-434-1500   |   Contact Us

Multimedia Encyclopedia

E-mail Form
Email Results


Developmental disorders of the female genital tract

Congenital 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 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 .



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:

  • 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 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:

  • 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 single tube. But, later in development, 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 1 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 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 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 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-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, 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 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
  • 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 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:

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


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 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.




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.

  • Developmental disorders of the vagina and vulva - illustration

    As a fetus develops, the formation of the internal and/or external sexual organs may be abnormal. This abnormal development can give rise to sexually ambiguous anatomical structures or normal-appearing anatomy that does not function correctly.

    Developmental disorders of the vagina and vulva


    • Developmental disorders of the vagina and vulva - illustration

      As a fetus develops, the formation of the internal and/or external sexual organs may be abnormal. This abnormal development can give rise to sexually ambiguous anatomical structures or normal-appearing anatomy that does not function correctly.

      Developmental disorders of the vagina and vulva


    A Closer Look


      Self Care


        Tests for Developmental disorders of the female genital tract



          Review Date: 11/20/2015

          Reviewed By: Robert A. Cowles, MD, Associate Professor of Pediatric Surgery, Yale University School of Medicine, New Haven, CT. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

          The information provided herein 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. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.




          A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.

          Content is best viewed in IE9 or above, Firefox and Google Chrome browser.