Müllerian anomalies: How to spot and treat an irregularly shaped or missing uterus or cervix

March 27, 2019

The uterus generally is about the size of a pear and the inner cavity is triangle-shaped. But for some women, the uterus, as well as the cervix, is shaped irregularly or missing completely because of müllerian anomalies.

Müllerian anomalies occur when müllerian ducts (a critical component of the reproductive system) develop abnormally, which can disrupt the development of the entire reproductive system, including the fallopian tubes, uterus, cervix, and upper two-thirds of the vagina. Although we don’t know what causes müllerian anomalies, the most common symptoms associated with these conditions include:

Recurrent miscarriage
Infertility
Preterm labor, or a birth that occurs before the 37^th week of pregnancy
No monthly periods (amenorrhea)
Pelvic pain
Difficulty with tampon use or intercourse

"Müllerian anomalies are congenital disorders, meaning they’re conditions present at birth. If these birth defects of the uterus, and/or vagina, don’t interfere with fertility or menstrual outflow, treatment usually isn’t necessary. Conditions that can lead to problems with fertility, menstrual flow, or the ability to have sex, however, often require surgery."

Ellen Wilson, M.D.
UT Southwestern Medical Center

Common Types of Müllerian Anomalies

Most müllerian anomalies affect the uterus and cervix. The most common include:

Müllerian agenesis: When a woman is born without a uterus, typically because of a broader condition involving several abnormalities of the reproductive system
Unicornuate uterus: When a woman has half a uterus, which is shaped like a banana
Didelphys uterus: When a woman has a double uterus, shaped like two bananas, because it didn’t form together during fetal development
Bicornuate uterus: When the uterus is heart-shaped with an indentation at the top and one cervical opening
Septate uterus: When the inner cavity of the uterus is heart-shaped
Cervical agenesis: When the cervix is missing
Cervical duplication: When a woman has two cervixes
Cervical hypoplasia: When the cervix is abnormally small
Vaginal septum: One type is longitudinal dividing the vagina into two halves. Or a transverse septum, which can block menstrual outflow
Obstructed uterine horn: When just one piece of a uterus forms without the cervix or vagina attached

To accurately diagnose müllerian anomalies, a gynecologist first listens to a patient’s symptoms and performs a pelvic exam, an examination of external and internal female organs. Next, imaging tests are performed, which can include:

Pelvic ultrasound
Pelvic magnetic resonance imaging (MRI), which often is considered the ‘gold standard’
Hysterosalpingography, or an X-ray with dye
Hysteroscopy, which uses a tiny telescope that’s inserted through the vagina and into the uterus to view and treat areas of concern
Vaginoscopy, which uses a tiny telescope that’s inserted into the vagina to view areas of concern
Laparoscopy, which uses a thin tube that’s inserted into the abdomen with a high-intensity light and high-resolution camera to view areas of concern

The Best Treatment Options

Treatment strategies for müllerian anomalies that affect a woman’s ability to have children typically focus on significantly reducing the risk of pregnancy complications, including early deliveries, miscarriages, and breech births. Women without a uterus are the rare exception in which treatment options are limited, but uterine transplants are possible. Patients should speak to a doctor about what surgical techniques would be best for their particular situation.

To treat pelvic pain or irregular periods that are the result of müllerian anomalies, many patients opt for surgery, which can range from vaginal surgery (i.e., septum removal) to a minimally invasive laparoscopic procedure to, in very rare cases, a hysterectomy.

Expert Care at UT Southwestern

Our pediatric and adolescent gynecologists (for children up to age 18) are the only ones in North Texas who specialize in diagnosing and treating most complex müllerian anomalies in children and adolescent females, whether they’re pregnancy-related or otherwise. Our reproductive endocrinologists (for adults over age 18) have expertise in müllerian anomalies in adults. Because müllerian anomalies are relatively uncommon and because associated symptoms may be vague or absent, many women go undiagnosed for a long time before we see them.

At UT Southwestern, we know the importance of having a support system when considering treatment options for müllerian anomalies. The start of puberty and family planning are important times in a woman's life, and our team is always here to speak to patients about their options and what they can expect from treatment plans.

To find out whether you or a loved one might benefit from treatment for müllerian anomalies, call 214-645-8300 or request an appointment online.