Congenital anomalies of the cervix and uterus

What are congenital anomalies of the cervix and uterus?

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, surgery can be effective.

What are the different types of congenital anomalies of the cervix and uterus?

• Cervical agenesis

• Müllerian agenesis

• Unicornuate uterus

• Didelphys uterus

• Bicornuate uterus

• Septate uterus

What are the signs and symptoms of congenital anomalies of the cervix and uterus?

Cervical agenesis

• 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.

Symptoms of cervical agenesis or hypoplasia include:

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

• Abdominal pain caused by blood collecting in the uterus

Müllerian agenesis 

Uterine agenesis is absence of the uterus. It is typically one symptom of a broader condition involving several abnormalities of the reproductive system.

This includes: 

• 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

Symptoms of mullerian agenesis or hypoplasia include:

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

• Cyclic abdominal pain, if an obstructed uterine horn is present

• Short or absent vagina

• Inability to have a pregnancy unless having a uterine transplant

Unicornuate uterus

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 and requiring surgical removal.

Didelphys uterus

Uterine duplication is a double uterus, or ‘didelphys’ 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. The latter is called OHVIRA or Obstructed hemi-vagina and ipsilateral renal agenesis.

Symptoms of a unicornuate uterus or didelphys 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

Bicornuate uterus

Bicornuate uterus is a ‘heart-shaped uterus’ with an indentation at the top and one cervical opening

Symptoms of a bicornuate uterus include:

• This is asymptomatic

• Complications during pregnancy and/o delivery, including preterm labor and breech delivery

Septate uterus

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). The latter is often found to have a longitudinal vaginal septum as well. This anomaly accounts for 75% of all mullerian anomalies and is one of the most commonly seen. 

Symptoms of a septate uterus include:

• This is asymptomatic

• Complications during pregnancy and/or delivery, including preterm labor, miscarriage and breech delivery

How are congenital anomalies of the cervix and uterus diagnosed?

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

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

• Pelvic exam by a gynecologist

• Pelvic and/or abdominal ultrasound

• Pelvic MRI (gold standard)

• Hysterosalpingography (an x-ray with dye) during a fertility work-up

• 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

• Laparoscopy

What are the causes of congenital anomalies of the cervix and uterus?

To date there is no known cause of mullerian anomalies.

Müllerian anomalies of the uterus include:

• Uterine duplication - A double uterus, or ‘didelphys’ 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. The latter is called OHVIRA or Obstructed hemi-vagina and ipsilateral renal agenesis.

How are congenital anomalies of the cervix and uterus treated?

Pediatric and adolescent gynecologists have extensive experience with ‘obstructive’ Müllerian anomalies leading to blockage of menstrual fluid and severe pain in adolescence.

These disorders include: imperforate hymen, obstructed hemi-vagina, transverse vaginal septum, obstructed uterine horns, cervical atresia and others.

• Cervical agenesis - May be treated with oral contraceptives (birth control pills), temporarily, to prevent periods since menstrual blood is unable to flow from the body. Definitive surgery will be needed to create a cervical opening or hysterectomy is this is not feasible.

• 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. Women 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 (hysteroscopy) can be performed to remove the wall of tissue.

• Uterine duplication - Treatment strategies are  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. Uterine transplant is still experimental and there are a few pregnancies reported. Family planning may also be achieved with egg retrieval and surrogacy for childbearing. 

• 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.