Absent uterus: What is Mayer-Rokitansky-Küster-Hauser syndrome?

Mayer-Rokitansky-Küster-Hauser syndrome, MRKHS, or Rokitansky syndrome, is a rare disorder that mainly affects the female reproductive system.

This syndrome, also called Müllerian agenesis or Müllerian hypoplasia, is due to a defect during the development of the Müllerian ducts that form the uterus, fallopian tubes and vagina in the developing embryo.

Women who suffer with Rokitansky syndrome may have problems with sexual intercourse if they do not develop a vagina, as well as the trauma of not being able to have children. As such, we need to adopt measures to improve their quality of life.

The different sections of this article have been assembled into the following table of contents.

MRKH syndrome and absence of the uterus

Rokitansky syndrome is a congenital disorder of the female reproductive system that affects 1 in 5,000 women worldwide. These women are born without a uterus or fallopian tubes. Depending on the severity of the disorder, the vagina may be partially or totally absent.

The causes of Rokitansky syndrome are not fully understood. It is due to a failure in early embryonic development, between 4 and 12 weeks of gestation. The Müllerian ducts of the female fetus do not develop. Consequently, the uterus, fallopian tubes and vagina do not form properly.

Müllerian agenesis

Since the ovaries develop from a different structure than the Müllerian ducts, they are not affected and are therefore normal in shape and function.

Diagnosis

A woman with Rokitansky syndrome produces female hormones normally, and so she will reach puberty and develop her female sexual characteristics. As we have already said, she has functional ovaries, hence ovulation is also normal.

However, despite the with the onset of puberty, menstruation never arrives, and girls usually go to their first gynecological visit for this reason.

It is not possible to diagnose this pathology with a basic gynecological examination, as the external genitalia are normal in appearance.

Nevertheless, with ultrasound sonography, the gynecologist can check if there is a complete or partial absence of the vagina, cervix and/or womb. Occasionally, if absence of the organs is not total, it can be possible to see a short vaginal sac or a very rudimentary uterus.

Finally, nuclear magnetic resonance imaging can confirm these results.

Symptoms and consequences

The symptoms presented by a woman with Rokitansky syndrome will depend on the severity of the disorder. In general, amenorrhea (absence of menstruation) is the first symptom experienced by these women upon the onset of puberty.

Other consequences and symptoms of Müllerian agenesis are detailed below:

• Difficult and painful sexual intercourse in women with a shortened vagina.
• Incapability of vaginal penetration when the vagina is not formed.
• Vertebral bone diease in 12-50% of cases, although the extremities can also be affected.
• Renal deformities such as pelvic kidney, horseshoe kidney, hydroureteronephrosis and ureteral duplication, although these are less common.
• Female infertility, since gestation is impossible due to lack of a uterus.

Symptoms of MRKH

As mentioned in the previous section, women with MRKHS do have functional ovaries and sex hormone production. Therefore, they experience and adequate sexual development, with the appearance of secondary sexual characteristics: growth of breasts, appearance of hair, etc.

Treatment

Rokitansky syndrome has no cure at present. However, there are techniques aimed at treating vaginal aplasia (absence of vagina) so that these women can lead an active sexual life and as normal a lifestyle as possible.

To follow, we will separate the types of treatment according to whether surgery is necessary or not. In both cases, the adolescent woman needs to reach sexual and emotional maturity in order to be able to apply these techniques.

Non-surgical procedures

These consist of vaginal dilatations, therefore, it will be necessary for the woman to have a vagina, even if it is small. For example, a 4 cm vagina can be converted into an 8-10 cm vagina with lubrication and good distensibility.

Using Frank´s dilators is the best known method of creating an optimal vagina without resorting to surgery. Plastic tubes of different sizes are used, that help to gradually enlarge the vagina by the application of intermittent pressure.

Non-surgical treatment for Rokitansky syndrome

This treatment lasts for approximately six weeks to several months and it is very effective. If the use of dilators is unsuccessful or not possible, the patient may be required to resort to a surgical intervention to create a neovagina.

Surgical techniques

These are more appropriate when the woman has a total absence of vagina or when dilatations have not been sucessful. They involve constructing a vagina-like canal between the recto-vesical space.

The most commonly used in this case is the McIndoe technique. It consists of taking a skin graft from the patient and placing it over a silicone penis-shaped prosthesis. This prosthesis with the graft is then molded and fixed to the vaginal tunnel with sutures. After a few days, the prosthesis is removed and dilators are used for several weeks. After approximately 3 months, the woman is now ready to begin her sexual life.

McIndoe technique

As well as to the treatments described here, psychological support is indispensable for these patients, who suffer greatly upon discovering that they have this disorder in their reproductive system.

Rokitansky syndrome and pregnancy

Women who do not have a uterus cannot get pregnant naturally or carry a baby. However, they do have viable eggs in their ovaries and can therefore have biological offspring thanks to assisted reproductive techniques, such as in vitro fertilization (IVF) of their eggs in the laboratory.

Additionally, it is essential to find a solution so that 9 months gestation of the baby is possible. The two options for carrying a pregnancy and the birth of a healthy child are as follows:

Uterus transplant

is an experimental technique that is not routinely used. In 2014, the first baby was born from a transplanted uterus in Sweden.

Surrogacy

the fertilized eggs of the woman without a uterus are transferred to a woman who offers herself as a gestational carrier, to maintain the pregnancy and give birth to the baby of the other woman or couple. This reproductive technique is not currently legal in Spain. Therefore, parents who need to resort to it have to travel to countries such as the USA, Canada and Ukraine, among others.

Surrogacy for women with Rokitansky syndrome

If you need more information about the technique of surrogacy, commonly known as surrogate motherhood, we recommend visiting the following post: What is surrogacy?

FAQs from users

How is Rokitansky syndrome diagnosed?

Rokitansky-Küster-Hauser syndrome is a malformation of the female genital apparatus, characterized by the absence of part of the gential tract, As such, women who present with this syndrome have a vulva and vaginal opening, but the upper portion of the vagina and the uterus are missing.

As the organs appear normal externally, it is easy to understand why the majority of patients are not diagnosed as children.

The absence of periods in puberty (amenorrea) can alert the patient to the attending physician. Another common situation that brings the syndrome to light is patients who report having problems in first sexual relations.

Diagnosis is easy once the physician suspects that the patient may have this syndrome: vaginal exploration will determine if the vagina is very short and an ultrasound will show the missing two thirds of the uterus and vagina.
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Why do I bleed if I don´t have a uterus or ovaries?

Women with Rokitansky's syndrome may present with light bleeding and pelvic pain due to the existence of a small part of functional endometrium in a rudimentary uterus, or even due to the formation of myomas in the such a uterus.

However, it is more common for women with this syndrome to have a total absence of uterus. In this case, they should undergo tests to find out where the bleeding is coming from.

What karyotype do women with Rokitansky syndrome have?

Müllerian agenesis syndrome is not due to any genetic alteration, but to a defect in fetal development. Therefore, girls born with this pathology have a normal karyotype (46,XX), i.e. they have 46 chromosomes like the rest of humans and the sex chromosomes are XX, typical of the female sex.

Can I get pregant if I don´t have a uterus?

No, a woman with Rokitansky syndrome can´t carry a pregnancy because they do not have a uterus. However, there are various options to become a mother:

• Adoption
• Pregancy using a surrogate to have biological children.
• Uterus transplant (in experimental stage)

Can I get cervical cancer if I don´t have a uterus?

Obviously, it is not possible for cancer to develop in an organ that does not exist. If there is no uterus or cervix, a woman will not have cancer in these organs. However, it should be noted that there can be a risk of cancer in other organs of the reproductive system, such as the ovaries, vagina or fallopian tubes.

Recommended reading

For a woman to be fertile, she must have an adequate development of her entire reproductive system, both internal and external. For more information on this subject, we recommend reading the following post: Fertility in women.

Müllerian agenesis is the most severe of the congenital uterine malformations. Nonetheless, there are other anomalies that result in infertility problems. If you´d like to read more about this topic, you can access the following article: What are Müllerian Duct Anomalies?

References