Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare condition that impacts the female reproductive system. Its characteristic feature is an underdeveloped or absent uterus and vagina, but functioning ovaries and female chromosome pattern.
Also sometimes known as Rokitansky syndrome, MRKH syndrome occurs when the uterus and vagina are either underdeveloped or do not develop at all. In some cases, other organs may also have development issues.
MRKH is present at birth, but doctors may not discover it until the person reaches adolescence and does not have a menstrual cycle. Symptoms can vary significantly between people.
In this article, we discuss MRKH syndrome, including its causes, symptoms, and more.
MRKH syndrome is a rare congenital condition in females where the uterus and vagina are either underdeveloped or do not develop at all. The external genitals and ovaries often develop typically, however. A person with MRKH syndrome also typically develops secondary sexual characteristics, such as pubic hair and breasts.
However, a person with MRKH syndrome does not usually have menstrual cycles due to the absence or issues with their reproductive organs.
The syndrome’s name derives from a combination of the four doctors who first described the condition over the course of 130 years.
MRKH syndrome affects an estimated 1 in 4,500 female newborns, though experts believe this number may not represent the true number due to unreported cases. The condition is present at birth, but a person may not notice symptoms until they reach adolescence.
There are two types of MRKH syndrome: type 1 and type 2. Type 1 is the more common type and only affects the vagina and uterus. Type 2 is less common. It affects areas outside the reproductive system, such as the kidneys, ears, skeleton, and heart or cardiovascular system.
Some healthcare professionals may refer to conditions such as MRKH syndrome as a “difference in sex development.” This is a term people may use to describe differences in sex characteristics that do not fit the binary idea of male or female.
The term may refer to differences in genitalia, hormones, chromosomes, or internal anatomy. However, many people do not identify with this term. Instead, many people prefer to use the term “intersex.”
The exact cause of MRKH syndrome is unknown and not clear. However, experts believe that
MRKH syndrome is the result of changes that occur between the 5th and 6th week of pregnancy, where the areas that MRKH syndrome affects are developing in the embryo.
Some evidence suggests that roughly 20–30% of people with MRKH syndrome may have a small chromosome variation, known as a microdeletion or microduplication, which may cause or contribute toward MRKH.
Additionally, as there are spontaneous cases, or people with no prior family connection, some researchers suggest that many genes may contribute, in addition to environmental factors during pregnancy, such as medications or maternal illness.
These hypotheses may also explain why type 2 MRKH often affects the kidneys, as they develop from the same embryonic tissue as the Müllerian duct.
As such, a combination of genetic and environmental factors likely contribute to the development of MRKH syndrome. However, more research is still necessary to understand all the factors that may result in the development of this condition.
Symptoms of MRKH syndrome can vary greatly between people. They can also vary based on the subtype of MRKH.
Since the ovaries are present and producing female hormones, secondary sex characteristics, such as pubic hair and breast growth, still occur. A person may experience sexual desires as well.
However, as there is no upper vagina or uterus, a period cannot take place. Some people may experience difficulty with sexual intercourse due to a shortened vagina.
In most cases of type 1, the vagina and uterus do not develop. In less common cases, the upper part of the vagina may be narrow with an underdeveloped uterus. The absence of a menstrual cycle is often the first symptom that a person notices.
In type 2, other organs have an unusual development. Typically, this type
For example, if the condition affects the kidneys, type 2 MRKH can cause:
- growth deficiency
- kidney stones
- increased susceptibility to urinary tract infections (UTIs)
- accumulation of urine in the kidney due to obstruction
If it affects the spine or skeleton, type 2 can cause:
- fused vertebrae
- limited motion in neck
- curved spine
- cleft palate
- small jaw
- asymmetrical face due to one side not developing fully
Some people may develop various degrees of hearing loss.
In rare cases, other areas of the body may be involved. This can cause symptoms such as:
- issues with the heart
- missing extremities
- webbed fingers or toes
- long, thin forearms
- duplicate thumbs
Diagnosis typically does not occur until around
Healthcare professionals will likely start by asking about personal and family medical history. They will perform a physical examination of the vagina. A shortened vagina generally relates to MRKH syndrome and may help the doctor may a diagnosis.
A doctor may also order blood tests to check hormone levels and chromosomes. To get a better view of the internal anatomy, they may order a pelvic ultrasound or MRI to examine the sexual organs and kidneys.
Treatment can depend on the person’s symptoms, including psychological ones, and a person’s goals.
One option for treatment is vaginal dilation. In this process, a healthcare professional shows a person how to use the dilator, which is generally a plastic tube inserted into the vagina. The process slowly stretches out the existing skin of the vagina to increase its depth and width. This treatment is generally noninvasive.
Another option is vaginoplasty. This surgical procedure creates a vagina using tissue from other areas of the body. It requires general anesthesia and has associated risks of invasive surgery.
Penn Medicine is currently running trials on uterine fertility transplants. During the procedure, a surgeon implants a donated uterus into the person. In 2019, Penn Medicine reported that a second person conceived a child following the procedure.
For people with a uterus, in vitro fertilization may be an option. If this is not the case, doctors may be able to harvest eggs and create a pregnancy through surrogacy.
Treatment may also include procedures, medications, or other therapies to address other issues that type 2 MRKH may cause. A person will need to work with a doctor to determine the best course of treatment for them.
People who experience significant stress, anxiety, depression, or other psychological issues may benefit from psychotherapy, cognitive behavioral therapy, or other therapies. Mental health treatments can help people reduce stress and manage their emotions and thoughts. A doctor may be able to help a person connect with a therapist.
Diagnosing and treating MRKH syndrome can be a difficult process. It often requires a multidisciplinary approach that can include mental health professionals.
With successful treatment, a person may live a normal life. Some treatments may also allow a person to gain fertility.
People with the condition wishing to start a family may consider using assisted reproductive technology, a surrogate, or adoption.
Individuals with type 2 MRKH may require longer treatment times to address presenting symptoms and potential risks. A person can discuss their situation with a doctor to determine what treatments may be necessary and for how long.
MRKH syndrome is a rare congenital condition where the vagina and uterus are not fully developed or do not develop at all. A person will still acquire female sexual traits at puberty, but the absence of a period may indicate the condition.
Diagnosis typically requires a physical examination, possible blood tests, or imaging tests. Following a diagnosis, a doctor may recommend treatment that can include increasing the size of the vagina or vaginoplasty.
Other treatments may be necessary to help with additional symptoms, such as kidney problems. Other options, such as surrogacy, uterus transplant, or adoption, are available if a person wishes to start a family.