Rokitansky ENG

Mayer, Rokitansky, Kuster, and Hauser are the names of the doctors who described the syndrome.

This syndrome is characterized by congenital aplasia of the vagina and uterus.

This syndrome is congenital since it develops before birth, during pregnancy when certain developmental abnormalities may occur.

• Aplasia means that the uterus and vagina have incomplete development.
• Syndrome refers to a set of signs and symptoms that characterize a disease.

This syndrome affects one in 4,500 girls and is the most common cause of a missing vagina associated with malformations of the uterus.

Girls with this syndrome are generally in good health; they have a female phenotype (that is, normal morphological characteristics), the karyotype is normal 46XX. To this day, genetic studies have failed to identify a responsible gene for all MRKH syndromes. The typical form is characterized by isolated utero-vaginal aplasia. The external genitalia (vulva) are normal, the development of breasts and hair is normal. The ovaries have normal function.

Utero-vaginal aplasia can also be associated with other malformations: the most common are kidney abnormalities affecting about 1/3 of people. This is most often the absence of a kidney (unilateral agenesis) or a kidney in an unusual position (ectopia), these abnormalities having no effect on the function of the kidney (s). Bone abnormalities affect 10 to 15% of people affecting the vertebrae (scoliosis) and extremities (hands, forearms). We can then speak of MURCS syndrome (utero vaginal aplasia, renal anomaly, and skeletal anomalies). Hearing abnormalities (4 to 10%),  and cardiovascular (1%) are rarer and abnormalities in ovarian function are even rarer.

The diagnosis is usually made during adolescence, when the young girl notices a lack of periods (85% of cases); sometimes the absence of menstruation did not alarm and it happens when the girl complains of difficult or even impossible sexual intercourse (10%).

More rarely, the diagnosis is made before puberty either by the fortuitous discovery of a utero vaginal anomaly during an examination done for another reason, or by the presence of certain malformations that made it possible to search for this anomaly.

The diagnosis is made by clinical examination, pelvic ultrasound, or even an MRI.

The clinical examination of the vulva by the gynecologist shows the normal appearance of the vulva and the vaginal opening but the vaginal cavity is reduced to a cup whose depth and depressibility can be variable (from almost zero to a few centimeters) .

Ultrasound is used to recognize or confirm the abnormal development of the uterus and the presence of the ovaries, and to look for a renal malformation

But the ultrasound does not always provide a clear understanding of the exact extent of the genital abnormality, and the MRI is then a more precise examination allowing a more complete analysis.

Diagram (to set up)

Indeed, the ovaries are sometimes difficult to highlight because they are in an unusual place, and it will be hypothesized that the ovaries are absent when it is necessary to strive to look for them outside their usual situation ( which has no repercussion on their function).

Another cause of error is a difficulty in interpreting ultrasound images of the uterus, in which the aplasia is not always complete, leading to the wrong conclusion of the presence of a uterus.

This moment of imaging is particularly sensitive because it is this examination that will sometimes reveal this diagnosis and will always confirm it. But, sometimes, it will only be after a period of hesitation about the presence or absence of internal genitalia and further investigation.

The diagnostic evaluation is done during several consultations with different participants. It can be the general practitioner, the radiologist, the pediatrician, the gynecologist, not always specialists in this syndrome.

The diagnosis is first mentioned and then confirmed sometimes after hesitation or even contradictions. During the consultations words are spoken touching on the privacy which is thus exposed to the eyes of the medical teams and the family. This period can be experienced by the teenage girl and her parents with a feeling of great loneliness, aggravating the dismay linked to the announcement of this unimaginable (or unthinkable) diagnosis that upsets the major landmarks in a woman’s life. Who to tell ? Who to turn to?

It is important that the young girl and her parents are quickly referred to a reference center for gynecological malformation so that the care is carried out by a multidisciplinary team who can carry out the investigations, the treatment and the psychological support.

While the emotional load and its content are different depending on whether it is the teenager or her parents, concerns about sex life are often and quickly expressed. The terms of support are then proposed; they mainly concern the surgical or non-surgical possibilities of lengthening the vagina.

This is a choice for the teenager or young adult. This choice can only come after a while of reflection. Because at the time of diagnosis, the adolescent is confronted with many questions concerning body image and self-esteem, becoming a woman and gender identity, love life and life as a couple, questions that become intertwined with the problematic of adolescence and the notions of norm and difference.

All these elements invite to respect a sufficient time between the announcement of the diagnosis and the decisions of management of vaginal aplasia and to set up a specific and differentiated psychological care for the adolescent on the one hand and her parents on the other hand.

The goal of treating aplasia is to create a vaginal cavity that allows intercourse.

The first method proposed is the non-surgical method: It is the creation of a vagina from the vaginal cup by dilations performed by the young woman with an instrument called a dilator.

It is also possible to offer surgical methods as a second step: these are surgical procedures that consist of creating a vagina.

There is no ideal age to start treatment. Time is not running out. This is a choice that is up to the adolescent or young woman, a personal choice that relates to the most suitable time, the technique used and even the appropriateness of this treatment.

It is recommended to respect a sufficient time between the announcement of the diagnosis and the start of treatment, the necessary time to receive and assimilate medical information concerning the syndrome and its consequences, the different methods of creating a vagina with their advantages and disadvantages, the necessary time for psychological care and finally the necessary time to mature a personal decision.

In addition, creating a new vagina, which can be a heavy and demanding process, frequently requires maintenance of the cavity by candle dilations as long as sexual activity has not taken place. The best functional results are obtained when the young girl has acquired sufficient maturity to take charge of the vaginal cavity, and when intercourse is envisaged in the short or medium term.

Finally, the treatment of vaginal aplasia is not urgent or even mandatory. Sex life is always possible. These girls and young women have a vaginal abnormality but a normal vulva and clitoris allowing access to orgasm even without treatment.

Many young women choose to recreate a vagina using dilators. This treatment is very effective and non-invasive (no surgical risk). It is however very important that the young girl is motivated before starting the treatment because it requires a daily investment of a few months. The vagina is made of a very soft and malleable tissue that can stretch to a length between 8 and 10 cm.

There are different sizes of dilators. They can be related in the form of a tampon. They are made of plastic with a soft, rounded surface. The specialist doctor teaches the young woman how to perform dilations. The smallest size dilator is used first, so the tissue can stretch smoothly and the vagina will form.

Over time, the girl uses larger dilators until the vagina reaches the desired length. At the start of treatment, only the end of the small dilator is inserted. Then over time, it will be possible to place the dilator deeper and deeper. If the dilations are done 15 to 20 minutes twice a day, the progress is generally very encouraging.

It is also possible to obtain the equivalent of this medical method by the natural method when the girl obtains a progressive lengthening of the vaginal cup by repeated attempts of sexual intercourse.

As described above, there are no good or bad times to start treatment. The right moment will be the one chosen by the young woman when she feels ready.

Here are some questions that need to be asked in order to find the most appropriate time for treatment, regarding dilations:

Are you comfortable enough with your body to get started? Do you have the time you need during the day to perform dilations? Are you in a period when your studies or your love life are actively mobilizing you? Do you have enough privacy at home? Do you prefer to wait until the moment when you will have a more active love life?

All of these questions need to be asked in order for you to find the most appropriate time for this treatment.

What is the frequency of visits to the doctor if treated by dilations?

Regular appointments with the doctor are essential in the management, with visits every week for the first month and then once a month. The doctor must appreciate the progression of the length of the vagina, but also its elasticity. Finally, he makes sure that the dilations are performed correctly so as not to damage neighboring tissues.

This follow-up is important from a medical point of view, but above all it allows to accompany the young girl, to give her the necessary support and motivation until the end of the treatment.

How long does it take to create a vagina through dilations?

The necessary time to create a vagina is less than 6 months in 75% of cases if dilations are performed every day. This obviously varies among young women. If dilations are not done every day, it will take longer.

Each person’s own sexual experience will be a motivator to accept this relatively long treatment.

If the girl has an active sex life, the result of the dilations is maintained, or even improves. If there is no regular intercourse, it is necessary to maintain the length of the vagina with regular dilations but not daily.

Does using dilators hurt?

No, using dilators to create a vagina doesn’t hurt. It consists of applying a simple pressure so that the tissue of the vagina can stretch but without causing pain. If it hurts, it means that there is too much pressure on the vagina.

What are the possible solutions if the dilation method does not work as expected?

The majority of young girls have a satisfactory result with dilations. However, sometimes young girls feel uncomfortable with dilators and don’t use them properly. In this case, do not hesitate to talk to your doctor. He may suggest that you stop for a while and try again later.

Surgical techniques consist of either lengthening the existing vaginal cup or creating a new cavity. These different techniques are mastered by a small number of surgeons. Any failure of a first intervention, during which the scarring phenomena naturally alter the tissues, would jeopardize the young girl’s sexual future. It is therefore essential that these treatments only be undertaken  in reference centers by surgeons experienced in this field. The different techniques each have their advantages and disadvantages. The choice of the surgical technique will be decided according to the wishes of the patient, her anatomy and the surgeon’s practice.

Is there a risk that the vagina will approach its original size?

Yes, if the vaginal cavity is not maintained by maintenance dilations or by an active sex life.

How long is hospitalization?

The length of hospital stay is on average 8 to 10 days.

How is the rest of the care going?

Immediately after the surgical creation of the neovagina, follow-up visits often need to be made closer throughout the period to obtain a satisfactory result in terms of vagina length and caliber. These consultations take place with the surgeon, they are often weekly at first and then monthly.

Subsequently, the rhythm of the controls depends on each patient and can be integrated into the classic gynecological follow-up carried out by the attending gynecologist.

When does sexual intercourse become possible?

As soon as healing is complete, which therefore depends on the surgery performed. Use of lubricant may be necessary.

Is it necessary to perform dilations even after surgery?

Yes, dilations may be needed to complete the surgical treatment.

Some young women will need to wear a dilator during the day and / or night for several weeks, or perform dilations to prevent retraction during the healing period.

Wearing a dilator is like wearing a plastic tampon. No one can suspect that the young woman is wearing it and she does not feel it.

When the treatment is finalized, sexual intercourse should be frequent to maintain the length of the vagina. If intercourse spaces out or does not exist for a few months, it is necessary to perform maintenance dilations to maintain the caliber of the vagina.

What happens if the dilations are not maintained after surgery or if there is no sexual intercourse?

Depending on the type of surgery, there is a risk that the vagina will close, which is why it is necessary to perform maintenance dilations or have regular sex.

What are the risks of the surgery?

It is strongly recommended that these surgeries be performed by surgeons accustomed to performing this type of surgery. Indeed, due to scarring phenomena, reoperation is often difficult.

Why can we have pelvic pain (stomach pain) from time to time?

Some young girls with MRKH syndrome have a part of the uterus, called a rudimentary uterus or uterine horn (s). It will not allow a baby to be carried but it may still bleed a little, and in this case , cause some pelvic pain. Ultrasound or MRI can clearly recognize this tiny uterus and offer the appropriate treatment.

Like any surgical procedure, these surgeries involve risks, in particular damages to neighboring organs (bladder, rectum). And each type of surgery has its own risks.

After treatment, if the young woman does not want to talk to her partner about the syndrome, can the young man notice it during sex?

Regardless of the treatment method, it is possible to create a normal sized vagina and in this case, the partner cannot suspect the initial malformation. According to young women, it is possible to use lubricants.

Young women with the syndrome are encouraged to explore their sexuality on their own as well as with their partner in order to better understand their sensitivity.

Are young girls with MRKH syndrome exposed to sexually transmitted diseases?

Yes, these young girls are exposed to sexually transmitted diseases. It is therefore imperative to protect yourself with condoms during sex.

Is it possible to have children?

Pregnancy is not possible for these young girls although the ovaries are functioning normally and producing eggs capable of being fertilized by a sperm. To this day, French law does not allow surrogacy. Motherhood is possible through adoption.

How to help a young woman with this syndrome?

Two associations provide invaluable help to these young women in the care process and during the different stages of life:  MRKH association and MAIA. Psychological care can be offered within the reference center for rare gynecological pathologies, but also in several specialized centers in Paris and in the provinces. In any case, it is important not to isolate yourself.