Medical Jargon

Now that everything has pretty much been diagnosed, I thought I would take this opportunity to "spell it all out" for you. There have been multiple questions from friends and family on my condition and I hope this will clarify my situation and diagnosis in better detail than I have previously done. It's a good lesson in female development that every female should know and understand. It is also my hope that one day this information might find someone who has a similar situation as me to bring them peace to years of unanswered questions and health problems.

Müllerian Anomalies (MA): The uterus, fallopian tubes and upper vagina are made up of two partially fused tubes, which, in embryo development, are known as müllerian ducts (ovaries and lower vagina are not derived from mullerian ducts). These ducts are first present in embryos of both sexes.

In the male embryo, the presence of anti-müllerian hormone (AMH), causes the müllerian structures to disintegrate during early development. They persist in the female because she does not produce AMH.

In females, these ducts run down vertically from flank to pelvic floor in the young embryo and eventually fuse into a double-barreled tube with two loose ends, known as the uterovaginal primordium, or UVP. The double UVP will eventually merge into a single-barreled uterus, cervix and upper vagina, while the loose ends develop into the fallopian tubes. In adulthood, these organs are referred to as the müllerian tract and congenital malformations of this tract are called müllerian anomalies, or MAs.

There are 7 different types of müllerian anomalies. They include agenesis and hypoplasia, bicornuate uterus, unicornuate uterus, uterus didelphys, septate uterus, arcuate uterus, and DES related uterus. I was diagnosed with a unicornuate uterus (UU).

The cause of these conditions/anomalies is fairly unknown. To date, there is no singular cause for müllerian anomalies. Some may be hereditary, others result from an insult to the fetus while in the womb (the T-shaped uterus of fetuses exposed to the DES drug, used to prevent miscarriage between 1940-1970, is the only proven case of this situation), but most cases are simply attributed to random mutation.

Unicornuate Uterus (UU): A unicornuate uterus takes place when one müllerian duct is underdeveloped or fails to develop, causing a banana-shaped half-uterus to form. It may or may not be accompanied by a rudimentary horn, and that other horn may or may not have an endometrial cavity or communicate with the main uterine cavity. A missing kidney or other kidney problems accompany this asymmetric anomaly more than they do other MAs. Adverse pregnancy outcomes are common with UU.

The Statistics: About 2%-4% of women are thought to have some sort of congenital uterine anomaly. Of those 7 anomalies, a unicornuate uterus makes up about 4% (statistics vary) of the total number of diagnosed cases, making it the least common of the uterine abnormalities. About 65% of women diagnosed with a UU will have a rudimentary horn of some kind.

Having a unicornuate uterus unfortunately brings a significant risk of both pregnancy loss and preterm labor, as well as ectopic pregnancies. Of all the MAs, it has shown the highest rate of primary infertility (15%) and the poorest fetal survival (40%). Estimates vary by specific study, but one literature review found pregnancy outcomes in women with unicornuate uteri to be miscarriage in 37%, preterm birth in 16%, and term birth in only 45%.

Doctors believe the miscarriage rate is attributed to abnormalities in the blood supply to the uterus. Per-term labor is thought to be because of space restrictions in the half-uterus and often result in a failed cervix. Doctors may recommend cerclage for women at risk of preterm labor in this situation. It is also found that most babies convieved in a unicornuate uterus will be born breached because of the inability for them to turn properly in preperation for delivary in such a small space.

Kidney System Abnormalities: In the embryo, the müllerian ducts act as scaffolding for the mesonephric ducts, which give rise to the kidneys. Because of this parallel structural relationship, it is common for a kidney or other urinary anomaly to be present with a müllerian anomaly. As mentioned earlier, a missing kidney or other kidney problems accompany this asymmetric anomaly of a unicornuate uterus more than they do other MAs.

Ectopic Ureter: An ectopic ureter is a medical condition where the ureter which carries urine from your kidney to you bladder, terminates at a different site than the bladder wall. In females, the ureters may terminate at the bladder neck/urethra (35%), vestibule (30%), vagina (25%), or uterus (5%). It can be associated with frequent urinary tract infections (UTI), urinary incontinence, and decreased kidney function. Ectopic ureters occur in 0.025% of the population and therefore are extremely rare and often hard to diagnose.

How This Relates To Me: At the beginning of 2009, I underwent an HSG test, which resulted in the diagnosis of the rare anomaly of a left unicornuate uterus. After laproscopic surgery, they found a right (non-communicating) rudimentary horn , which after testing, proved it contained entometerial tissue. This means I was menstruating not only from my left unicornuate uterus but also from my right rudimentary horn. The horn had no outlet, as it was closed off from my uterus, thus my body had been re-absorbing the fluid for roughly some 13 years (I am fortunate it did not result in a rupture).

My left fallopian tube was removed as a teenager (at the age of 12) due to blockage of menstruation upon menarche caused by a vaginal septum. Because my unicornuate uterus is on my left side which no longer has a fallopian tube, there is no communication between my ovary and uterus. Thus, when an egg is released from my ovary it has no path to my uterus to be fertilized (the right ovary and tube are also considered useless since they do not attach to my actual uterus). This results in complete infertility outside of the means of IVF (which then takes into account the risks of the above pregnancy statistics with a UU).

As it is very common for patients diagnosed with a UU to also have an abnormality of the renal (kidney) system, such was my luck. In March of 2009, they discovered an ectopic uterter which had been misdiagnosed for some 13 years. In my case, my left ureter drained into the lower portion of my uterus, which if you read the statistics above, is the most rare of the insertion sites with the presence of such a condition.

Prior to the removal of my above mentioned vaginal septum (at the age of 12), my body had also been re-absorbing the urine drained from my left ureter into my uterus (sounds healthy-huh?). During an extensive surgery, they reconstructed the size of my left ectopic ureter and implanted it back into my bladder (thank goodness for modern day technology). Attributed to years of damage from this condition being misdiagnosed and years of battling infections, I am left with 40% function of my left kidney which will not likely improve.

After a visit to my urologist recently, a nurse at the front desk asked if I was Kara. As I responded yes, she proceeded to tell me, "my goodness...you are one for the history books". I have become quit use to being the "science project" and "show-n-tell" of many doctors. I even jokingly told my urologist that if he wrote about me in a medical journal, I wanted a copy of the article. I try and remind myself that we all have our trials in life...this was simply the one I was blessed to overcome. It brings me tremendous comfort to know that in the life hereafter my broken and somewhat pieced together body will once again be made whole and perfect. I can't wait...

For more information on Mullarian Anomalies, please click here.