Congenital uterine anomalies are irregularities of the uterus (womb), the reproductive organ where a baby is carried during pregnancy.
Roughly 5% of people with female reproductive systems are born with some sort of uterine difference. While they're not dangerous, they can cause complications during pregnancy.
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Congenital uterine anomalies are irregularities of the uterus (womb) that are present at birth. The uterus is the reproductive organ where a baby is carried during pregnancy.
Congenital uterine anomalies can cause complications with pregnancies. People with uterine abnormalities may have problems with recurrent miscarriages and preterm deliveries.
About 25% of the time, the kidneys and genitourinary system are also affected.
Congenital uterine anomalies also may be referred to as Müllerian duct anomalies because the uterine abnormalities result from problems with the Müllerian ducts as the fetus grew in the womb.
About 5% of people with female reproductive systems have some sort of congenital uterine anomaly.
The most common anomalies and their frequencies include:
Inborn uterine anomalies seem to stem from the lack of complete fusion of the two uterine horns (cornua of uterus) at the time a person is developing in their mother’s uterus.
When an embryo is in the early stages of development, a pair of tubes called the Müllerian ducts grows to form the female reproductive organs. This forms the cervix, fallopian tubes, and upper vagina. (The ovaries are formed by a different embryonic source.)
As the Mullerian duct develops, it depends on three phases to reach completion.
They are:
Müllerian duct development occurs independently of sex determination.
People with Müllerian anomalies typically have normal ovaries and ovarian function. However, Müllerian development is closely aligned with urinary tract development, so renal anomalies often are diagnosed at the same time as Müllerian anomalies. For this reason, doctors will image both the genital and urinary systems when they suspect Müllerian anomalies because they're affected in 25% of cases.
Also referred to as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, vaginal agenesis, or Müllerian aplasia, Müllerian agenesis is caused by the embryonic underdevelopment of the Müllerian duct.
As a result, the vagina, uterus, or both fail to develop completely or at all. This condition is often identified when a person goes to their provider because haven’t gotten their period within the expected age range or haven’t met other growth and puberty milestones.
Doctors haven't identified any risk factors for congenital uterine anomalies.
People who have congenital uterine anomalies are known to have a higher incidence of infertility.
For those who can conceive, other adverse pregnancy outcomes are associated with uterine anomalies including:
People with Müllerian duct anomalies (MDA) have the same complications, as well as:
Many people don’t even realize they have a uterine abnormality until they undergo infertility testing. That’s because some people don’t have symptoms.
When symptoms do occur, they include:
To diagnose congenital uterine anomalies, doctors take a medical history and do a pelvic exam.
Your doctor will ask about your menstrual history, reproductive health, past pregnancies, and any symptoms you're experiencing. This information can provide important clues.
A pelvic exam allows your doctor to assess the size, shape, and position of your uterus and the surrounding structures. Certain anomalies, such as a septate or bicornuate uterus, may be detected during a pelvic exam.
They may also evaluate the kidneys and genitourinary system, since they're also affected a quarter of the time.
Your doctor will likely also order imaging tests.
This procedure involves injecting a contrast dye into the uterus and fallopian tubes, followed by x-ray imaging. It can help identify abnormalities such as uterine septum or other structural defects.
This test involves injecting saline solution into the uterus followed by ultrasound imaging. It can help provide detailed images of the uterine cavity and detect abnormalities such as septate or subseptate uterus.
If your doctor suspects a genetic syndrome associated with uterine anomalies, they may recommend genetic testing.
Uterine anomalies don’t always need to be treated, but for those that do, surgery is often the best treatment.
Medication and hormone therapy are usually the first courses of treatment.
Depending on the type of anomaly, surgical correction may be the best treatment.
Anomalies and their recommended surgeries:
Depending on the uterine anomaly, some people are able to get pregnant and carry a pregnancy to term with or without surgery.
But hypoplasia/agenesis has no reproductive potential. In vitro fertilization (IVF) of a donor egg and implantation in a surrogate uterus is needed.
Last reviewed by a UPMC medical professional on 2024-09-05.
