Pediatric Congenital Anomalies of the Cervix and Uterus

Pediatric Congenital Anomalies of the Cervix and Uterus

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Summary

Congenital anomalies can affect the vulva, vagina, cervix, uterus, fallopian tubes and ovaries of baby girls. While some of these conditions are noticed as soon as the baby is born, others aren’t typically discovered until later in her life. Birth defects of the cervix or uterus are very rare, affecting only 4 percent of female babies.

Expanded Overview

Müllerian anomalies affect up to four percent of females. As an embryo forms, two paired müllerian ducts develop into the female reproductive tract which includes the fallopian tubes, uterus, cervix, and upper two thirds of the vagina. A wide variety of malformations can occur when this system is disrupted. Some birth defects of the cervix or uterus may need no treatment and do not interfere with a woman’s fertility. For conditions that do cause problems with fertility, menstruation or sexual relations, medication and/or surgery can be effective.

Causes

There is not one cause of müllerian anomalies. Some may be hereditary, others may be attributed to a random gene mutation or developmental defect.

Müllerian anomalies of the cervix include:

  • Cervical agenesis, or complete absence of the cervix, usually occurs along with vaginal agenesis.
  • Cervical duplication is the presence of two cervices. Often, cervical duplication occurs along with a double uterus.
  • Cervical hypoplasia is a cervix that is smaller than normal. It is often associated with abnormal or absent vaginal development.

Müllerian anomalies of the uterus include:

  • Septate uterus has a wall of tissue running vertically up and down the middle of it, separating the uterus into two cavities. This septum may extend part way down the uterus (partial septate uterus) or all the way down to the cervix, at the bottom of the uterus (complete septate uterus).
  • Uterine agenesis is absence of the uterus. It is typically one symptom of a broader condition involving several abnormalities of the reproductive system, including
    • Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, a disorder in which the uterus and vagina are absent or underdeveloped, in addition to other abnormalities
    • MURCS association – includes MRKH symptoms, spine abnormalities, short stature, kidney defects, and other symptoms
    • Androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance outwardly, but internally they lack female reproductive organs
  • Uterine duplication is a double uterus, or a uterus with two separate cavities. Each cavity in a double uterus may lead to its own cervix. In some cases, women with a double uterus also have a duplicate vagina. The vagina may develop properly on both sides, or one vagina can be obstructed.
  • Unicornuate uterus is one half of a uterus that forms with a cervix and is usually connected to the vagina. This uterus will function normally, though it increases risk for premature delivery of a fetus and for breech presentation, which may necessitate a cesarean section. Sometimes, there is a second smaller hemi-uterus which is obstructed, meaning the endometrial cavity within the obstructed uterus cannot drain menstrual blood – leading to pain.

Symptoms

Symptoms of cervical agenesis include:

  • Failure to start having periods at puberty (primary amenorrhea)
  • Abdominal pain

Cervical duplication may cause no symptoms. If symptoms do occur, they are usually caused by other abnormalities in the uterus and/or vagina. These symptoms may include:

  • Unusual pain before or during a menstrual period
  • Abnormal bleeding during a period, even when tampons are used
  • Infertility or complications during pregnancy and delivery

Symptoms of cervical hypoplasia include:

  • No monthly periods (amenorrhea)
  • Abdominal pain caused by blood collecting in the uterus

Symptoms of a septate uterus include:

  • Unusual pain before or during a girl’s period
  • Complications during pregnancy and/or delivery, including preterm labor, miscarriage and breech delivery

In some cases, girls may have uterine duplication and not be aware of it. When symptoms do occur they may include:

  • Unusual pain before or during a menstrual period
  • Abnormal bleeding during a period, even when tampons are used
  • Infertility or complications during pregnancy and delivery

Symptoms of uterine agenesis include:

  • Failure to start having periods at puberty (primary amenorrhea)
  • Abdominal pain

Symptoms of uterine hypoplasia include:

  • Failure to start having periods at puberty (primary amenorrhea)
  • Abdominal pain
  • A small or no vaginal opening
  • Infertility

Symptoms of a unicornuate uterus include:

  • Abdominal pain if other uterine remnants are present
  • Difficulty getting pregnant
  • Complications during pregnancy and/or delivery, including preterm labor, miscarriage and breech delivery

Tests and Diagnosis

Most of these conditions are not diagnosed until puberty, when a girl fails to get her period or experiences menstrual irregularities or pain. Others aren’t diagnosed until a woman has trouble getting pregnant.

These conditions can be diagnosed by a combination of the following:

  • Pelvic exam by a gynecologist
  • Pelvic and/or abdominal ultrasound
  • Biopsy of any abnormal tissue
  • Blood tests for Mayer-von Rokitansky-Küster-Hauser’s (MRKH) syndrome and/or hormonal abnormalities
  • Pelvic MRI
  • Hysterosalpingography (an x-ray with dye) to examine cervical abnormalities
  • Hysteroscopy – which uses a tiny telescope, called a hysteroscope, inserted through the vagina into the uterus to view and treat areas of concern
  • Vaginoscopy – which uses a tiny telescope inserted into the vagina to view the vaginal vault and cervix

Treatments

Cervical agenesis is treated with oral contraceptives (birth control pills) to prevent periods since menstrual blood is unable to flow from the body.

Cervical duplication treatment is typically not urgent unless the condition causes symptoms or if a woman is pregnant or trying to get pregnant. Treatment strategies are then focused on reducing the chance of complications during pregnancy – such as preterm delivery, miscarriages or breech births. Girls with cervical duplication will need a pap smear performed from each cervix.

Cervical hypoplasia treatment depends on the individual patient’s condition and her symptoms.

Septate uterus, when necessary, surgery can be performed to remove the wall of tissue.

Uterine duplication is typically not necessary unless the condition causes symptoms or if a woman is pregnant or trying to get pregnant. Treatment strategies are then focused on improving fertility and reducing the chance of complications during pregnancy, including preterm delivery, miscarriages or breech births.

Uterine agenesis, treatment depends on the individual patient and her symptoms. If the vagina is also missing, many girls choose to have a vagina created through vaginal dilators or reconstructive surgery.

Unicornuate uterus, treatment strategies include laparoscopic surgery to remove a non-connected hemi-uterus that results in abdominal pain due to inability of menstrual blood to flow to the main uterus. Specialized care during pregnancy/delivery may also be needed to reduce the risk of complications, including preterm delivery, miscarriages or breech births.

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