What is MRKH?

Mayer Rokitansky Küster Hauser (MRKH) syndrome is a rare but treatable condition where a female baby is born with an underdeveloped uterus or without a uterus. While this condition is more frequently referred to as MRKH or the Rokitansky syndrome, it is also known as Mullerian Agenesis, Vaginal Agenesis or even Mullerian Aplasia. Baptist Health offers several available treatments for MRKH syndrome.

Symptoms

There are two types of Mullerian Agenesis with varying symptoms. However, both types of MRKH share several symptoms in common:

• In both MRKH syndrome Type 1 and MRKH syndrome Type 2, a woman’s uterus and upper vagina is affected.
• In both types of Mullerian Agenesis, the condition often goes largely unnoticed until females reach puberty but do not menstruate.
• A female with either type of MRKH is unlikely to get pregnant or be able to carry a baby. However, it is possible for a female with healthy ovaries to have a biological child through assisted reproductive methods such as in vitro fertilization or surrogacy.

MRKH Type 1

The main distinguishing feature of MRKH Type 1 is that only the uterus and upper vagina are underdeveloped or impacted. All other organs remain unaffected.  Common symptoms of Type 1 Mullerian Agenesis include:

• Diminished vaginal depth and width
• Painful sexual intercourse

MRKH Type 2

In MRKH Type 2, other organs are affected. The signs and symptoms of this form of MRKH syndrome include:

• Kidney complication or failure
• Skeletal malformations
• Slight hearing loss
• Heart defects

Causes

The exact cause of Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is unclear. The most commonly accepted theory is that the baby’s Mullerian ducts don’t fully or properly develop during the first 20 weeks of a mother’s pregnancy. There is no evidence of a genetic or hereditary cause.

Diagnosis

Mullerian Agenesis is usually discovered by pediatricians or gynecologists who base their diagnosis on a female patient’s medical history; the results of a physical exam; and a follow-up blood test, ultrasound and/or magnetic resonance imaging (MRI). During infancy or early childhood, a pediatrician might discover an underdeveloped or missing uterus during a routine checkup. During puberty, the absence of a menstrual cycle might prompt an examination. A broad range of organ-related symptoms and complications can also sometimes lead to a diagnosis. A diagnosis of MRKH syndrome can be psychologically distressing, and we encourage anyone diagnosed with this condition to seek the support of trained and caring professionals. 

Treatment

MRKH is a complex condition with several different treatment options. These options include surgical and nonsurgical procedures based on the individual characteristics of a woman’s condition. While some treatments have been more well-studied than others, no MRKH syndrome treatment is 100% guaranteed to be effective.

Surgical treatments include:

• Vaginoplasty – Surgery to make a functioning vagina, for example, by using a skin graft.
• Uterus transplant

Nonsurgical treatments include:

• Self-dilation – This treatment involves a female patient using a series of incrementally larger dilators (small, round rods) to expand her existing vagina over the course of several months.
• Vaginal dilation through intercourse – Frequent intercourse may also help some women with MRKH (and with willing partners) to expand their existing vaginas over time. However, artificial lubricant is often needed as side effects may be discomfort and bleeding.

Complications

MRKH can present many difficulties other than the physical symptoms and side effects of the condition. Complications from surgical procedures can impede health, physical activity and sexual intercourse. The physical, mental, and emotional toll of Mullerian Agenesis can negatively affect mood, decision-making processes, and personal relationships with loved ones.

Therefore, if you experience any of the symptoms of MRKH, please find a provider near you as soon as possible. Proactively seeking care increases the likelihood of early diagnosis, early intervention, and more effective treatment.