Can You Get Pregnant With MRKH?

Mayor-Rokitansky-Kuster-Hauser syndrome (MRKH) is a congenital condition that causes an infant to be born with an underdeveloped or absent uterus and/or vagina. It is a rare disorder and affects females. In most instances, the ovaries and the fallopian tube continue to function normally, and the external genitalia is seemingly unaffected. This means that the individual will possess external genitalia, that is, they will have a vaginal opening, labia, a lower vagina, and a clitoris. The urethra is also not affected by the syndrome so the individual can urinate normally.

In other types of MRKH syndrome, some organs like the kidneys may not form properly. The condition is usually discovered in the individual’s teen years when they fail to start menstruating due to the absence or malformation of a uterus. It may also be discovered when they have pain during intercourse to their vaginal canal being very short and narrow. MRKH syndrome can also be referred to as:

• Vaginal agenesis
• Mullerian agenesis
• Mullerian aplasia
• Genital renal ear syndrome (GRES)
• Mullerian dysgenesis
• Rokitansky Kuster Hauser syndrome
• Rokitansky syndrome
• Congenital absence of the uterus and vagina (CAUV)

What are the types of MRKH syndrome?

There are two types of MRKH syndrome, they are:

• Type 1 – individuals with this type of MRKH syndrome have normal and functioning ovaries and fallopian tubes, but they have a blocked or missing upper vagina, cervix, and uterus. None of their other organs are affected though.
• Type 2 – Individuals with this type of MRKH syndrome have a blocked or missing uterus, cervix, and upper vagina. They also have issues with their fallopian tubes, the ovaries, their spine, their kidneys as well as some other organs.

What is the cause of MRKH Syndrome?

The cause of the syndrome is unknown. Changes in several genes involved in development before birth has been identified in individuals with MRKH syndrome. It is however unclear if these changes are responsible for the syndrome, as they have been found in only a few individuals affected by the syndrome. Researchers are still working to determine how these genetic changes lead to the issues associated with the development of the female reproductive system.

The reproductive abnormalities seen in the syndrome are due to the incomplete development of the Mullerian duct which is why it can also be called Mullerian agenesis. It has been suggested by researchers that a combination of environmental factors and genetic issues contribute to the development of MRKH syndrome. However, the specific factor is unknown. It is also not clear why some individuals are affected in parts of the body and not in their reproductive system. It is suspected that because certain tissues and organs like the kidneys form from the Mullerian duct which is the reason they are affected by the syndrome.

What are the symptoms of MRKH syndrome?

The symptoms can vary depending on the type that the individual has. In many cases the individual not getting their menstrual period by the age of 16 is usually a sign that their uterus or vagina is not developed. If the ovaries are functioning normally, however, the individual may still have other menstruation-related symptoms like mood swings, bloating, etc., but not bleeding. The individual usually has typical sexual development like the growth of breasts and hair in their pubic and underarm regions. There may also be pain during their first vaginal intercourse due to the shorter and narrower nature of their vagina. Type 2 MRKH syndrome may also come with:

• Hearing loss
• Cardiac issues and complications
• Kidney complications
• Skeletal and spine malformations and issues

How common is MRKH syndrome?

Most cases of MRKH syndrome occur in people who have no previous history of the disorder in their family. MRKH can be passed through generations in a family, but this occurs less often. The inheritance patterns are unclear because the signs and symptoms that are observed vary among affected individuals even in the same family. The condition also appears to have an autosomal dominant pattern of inheritance. This means that one copy of the altered gene in each cell is typically sufficient to cause the disorder, although the gene involved is usually unknown. The syndrome occurs in approximately 1 in 4500 female infants.

Is there any treatment for MRKH syndrome?

This would depend on the symptoms of the individual and what the person hopes to achieve with the treatment. There are surgical and non-surgical options including uterine transplant, a vaginoplasty, and vaginal dilation.

• Vaginal dilation – Dilators are made of plastic or silicone and vary in length and width. They are made to resemble a penis and are used to help expand and stretch the inside of the vagina.
• Vaginoplasty – This is a surgical procedure to create a vagina. There are several ways the surgery can be performed but most of them involve creating a hole and lining it with tissue from other parts of the individual’s body.
• Uterine transplant – This can enable a person with MRKH syndrome to carry a pregnancy. It is a major surgery that involves transplanting a donated uterus into a person without a uterus. The surgery gives people with MRKH the opportunity to have children. This surgery is rare and not widely available. However, it could be a promising treatment in the future.

Can you get pregnant with MRKH?

Having an underdeveloped or missing uterus and vagina makes getting pregnant impossible. Ruling out carrying a baby to term also, this condition can, however, be improved with medical intervention. If the individual has functioning ovaries that produce follicles, they can achieve their aim of having biological children through In vitro fertilization and surrogacy.

Is there any way to prevent MRKH syndrome?

There is no way to prevent MRKH syndrome. It can happen in people with no previous family history of the condition; it can also be genetic. Also, no one gene has been pinpointed to be the cause of MRKH syndrome.