Congenital Abnormalities of Reproductive Tract (Pediatric)

What are congenital abnormalities of the reproductive tract?

This term refers to a variety of structural disorders of the reproductive tract (vagina, cervix, uterus and fallopian tubes) that occur while the child is growing in the womb. Congenital abnormalities of the reproductive tract occur in a few percent of the female population, and may affect:

  • The External Genitals. This includes a swollen clitoris or fused labia (when the folds of tissue around the opening of the vagina are joined together).
  • The Hymen. The hymen is a thin tissue that partly covers the opening of the vagina. An imperforate hymen completely blocks the vaginal opening and prevents the passage of menstrual blood which leads to pelvic pain during puberty. Sometimes, the hymen has only a very small opening which can cause difficulty with tampon use.
  • The Uterus and Cervix. A range of disorders are possible, from the absence of the uterus and cervix to a duplicated (double) uterus and cervix to half a uterus with a cervix to a normal shaped uterus with a wall down the middle of the uterus (septum). With some of these abnormalities, it is common for a girl to also be missing a kidney.  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 also missing the kidney on the same side of the body.
  • The Vagina. The vagina may have a blockage, may be duplicated due to the presence of a wall down the middle of the vagina, or could be absent.
  • The Ovaries. The ovaries have a different developmental origin from the reproductive tract tissues; disorders of the ovary (absent ovary, ovary in an unusual location, etc.) are very rare. 

These abnormalities can be caused by abnormal or missing genes, but most females with these conditions have no genetic abnormality.

A developmental disorder may be obvious as soon as the child is born, or it may be diagnosed during puberty or after menstruation has begun. For some females, a congenital disorder of the reproductive tract is not identified until they are pregnant or trying to conceive.

Disorders of the reproductive tract may be accompanied by congenital disorders of the urinary tract, kidneys, and spine.

What are the symptoms associated with a congenital abnormality of the reproductive tract?

Symptoms vary according to the girl’s age and condition.

Signs apparent in infancy may include:

  • Abnormal vaginal opening
  • 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

As the female matures, symptoms may include:

  • No menstruation (amenorrhea) by age 15 despite normal female development
  • Monthly cramping or pain, without menstruation
  • A lump in the lower abdomen, usually caused by blood or mucus that cannot drain appropriately
  • Painful menstruation that worsens with time
  • Menstrual overflow with tampon use (a sign of a second vagina)
  • Pain with intercourse
  • Repeated miscarriages or preterm births (may be due to an abnormal uterus)

How is a congenital abnormality of the reproductive tract diagnosed?

Our specialists in pediatric gynecology can detect some abnormalities on physical examination. Further diagnostic tests may include:

  • Karyotyping (genetic testing)
  • Testing of Hormone levels
  • Ultrasound or MRI of the pelvic area.
  • Exam under anesthesia

What is the treatment for congenital abnormalities of the reproductive tract?

  • Surgery. There are certain disorders of the reproductive tract that can be corrected with surgery. If there is a blockage of the vagina and/or uterus, surgical repair is necessary to fix this problem.  Although some surgeries for reproductive disorders may be performed on infants, most procedures are delayed until the child is older and has started to menstruate.
  • Dilator. If a girl is born without a vagina, there options for creating a vagina for her once she has gone through puberty. The simplest effective treatment is to use a dilator; this device is used to stretch or widen the area where the vagina is supposed to be. This nonsurgical therapy takes four to six months to create a new vagina
  • Emotional Support. This is key for families of children diagnosed with abnormalities of the reproductive organs. As the girls get older, we also recommend counseling and support groups for them.