Twice in the last month I was invited to appear on The Doctors, an Emmy-winning TV show dedicated to helping viewers attain and maintain good health. While the purpose of the show is to empower people about their well being, the program often explores relatively rare, fascinating conditions, as this too drives viewership.
My role was to discuss women born with congenital abnormalities and how that affects their ability to reproduce.
On television, it can be tricky to balance sharing honest information about complex, rare diagnoses that focus on the facts without overstating or sensationalizing the aspects that are most unusual – those drivers of viewership and ratings.
For me, keeping it all in perspective is helped along by my firsthand knowledge that in real life, for the young girls who are diagnosed with these conditions, being different is not fascinating – it can be scary and often traumatizing. I also think about the benefit such programming holds for women born with birth defects: they can find solace and strength in knowing they are not alone and that there are answers to their questions.
Basic reproductive anatomy develops as follows:
- In the womb, three different parts of the embryo combine to form the different parts of a woman’s reproductive tract.
- The gonadal ridge gives rise to the ovaries and the eggs.
- The “mullerian” system produces the two fallopian tubes, the uterus and its cervix, as well as the upper two-thirds of the vagina.
- The lower vagina is formed from the urogenital sinus.
The first kind of defect happens when an error occurs while the gonad or ovary is developing and the ovary and eggs do not form properly. Diagnosis normally happens in the teenage years when these girls present without signs of puberty: no breasts, no growth spurt and no menses. Hormonally, they have no ovaries and thus very little estrogen and no eggs. They should be given estrogen and progesterone so their body can develop and look like all other adult women. When they are ready to have children, they will need to obtain an egg from someone else, but they will be able to carry their child, deliver and breastfeed.
The second most likely diagnosis when a young teen presents with no periods is absence of the upper vagina, uterus and tubes. This syndrome is named for the four men who described it: Meyer, Rokitansky, Kurster and Hutch or MRKH, and it occurs in one out of 5,000 women. These women usually go through all the stages of puberty but then never get a period. Most of those diagnosed have normal ovaries but are missing all of their mullerian system: no tubes, uterus, cervix and upper vagina. They also have a very short vagina, which doesn’t connect into their upper body. Treatment includes creating new larger vagina, normally through reconstruction surgery or sometimes with the use of dilators. A small percentage (7-10%) of these women have a small or malformed uterus. In those cases, the uterus and cervix need to be reconnected to the new vagina or removed altogether. These women have functioning ovaries and eggs, so when they are ready, the eggs can be removed from their ovaries, fertilization can occur in a laboratory, and then a surrogate can be used to give birth to the baby.
An alternative birth defect of the mullerian system is due to incorrect fusion. In the early developing fetus, there are two of everything: tubes, uteruses and cervixes. These migrate toward the midline and then merge in the middle. Following the merger, the midline separation gets resorbed and most women are born with the two original tubes, but just one each of the uterus, cervix and vagina.
Defects occur when this process has deviations. Sometimes the two uteruses never meet in the middle and there is complete failure of fusion, and the woman then has a complete duplication of everything (This is called uterus didelphys). The two sides can be the same size and equal or there can be one dominant and one small side. Alternatively, the two uteruses may meet in the middle and only partially merge (“bicornuate uterus”) or the merger is complete but the center never gets resorbed and so there is a fibrous septum separating the inside of the uterus into two parts (completely or partially).
As with other congenital abnormalities, symptoms may first show up as the girl goes through puberty, but often this particular situation is noted with the first PAP smear, the first pregnancy (ultrasound or preterm labor/delivery) or with miscarriages and infertility. Again, consulting with experts may help these women adjust to the new findings and ensure the optimal pregnancy outcome.
The third abnormality is of the Urogenital ridge. Some women have only abnormalities in their lower vagina: a septum, a lack of development of the lower vagina, or a hymenal ring that is blocked — all three may present with no menses.
All of these anomalies may be associated with other birth defects, mostly seen in the kidney system, the skeletal (bony) system and even sometimes, albeit rarely, in the inner ears.
The incidence of congenital uterine anomalies is difficult to determine since many women with such anomalies are not diagnosed, especially if they are asymptomatic. Uterine anomalies occur in 2%-4% of infertile women and fertile women with normal reproductive outcomes. The incidence is higher, however, among women with recurrent first trimester miscarriage or late first trimester-second trimester miscarriage/preterm delivery.
At a fertility clinic, these rare cases are not uncommon. While only one out of every 4,000-5,000 women has a birth defect that affects their reproductive system, as many as 12% of women who have had several miscarriages are diagnosed with a congenital uterine anomaly.
We don’t yet know why women have these birth defects (although there does appear to be a genetic component), nor do we yet know whether or not their children will have them either.
What we do know, however, is that we women are strong and powerful, and when faced with challenges, particularly when it comes to wanting to start a family, we will do all we can to make it happen. This is the message I shared on The Doctors, and it’s what I share with my patients every single day when I say, “together we’ll find a way.”
If have questions about congenital abnormalities or any fertility challenges, please contact the West Coast Women’s Reproductive Center.
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