Mayer-Rokitansky-Küster-Hauser Syndrome

Introduction

Introduction

Mayer-Rokitansky-Küster-Hauser syndrome is a congenital disorder that impacts the female reproductive system. This condition results in an underdeveloped vagina and uterus. The uterus may be very small or absent, and the vagina is developed short. Those women affected by this condition will have normal ovaries and a normal female chromosome pattern. As this is a congenital condition, it occurs during the development of the fetus and is seen in one in every 4,500 females. Read the article to know more.

What Is Meant by Mayer-Rokitansky-Küster-Hauser Syndrome?

Mayer-Rokitansky-Küster-Hauser syndrome is a very rare condition that can affect the female reproductive system. An absent or undeformed vagina and uterus characterize this condition. The ovaries and the fallopian tube usually function normally in females affected by this condition. This condition results in the lower vagina, labia, clitoris, and pubic hair. The urethra is not usually affected by this condition. In sporadic cases of this condition, even the kidney and the spine may be undeformed.

At What Age Is This Condition Diagnosed?

This condition is usually discovered during the teens when the affected female never has a menstrual cycle. This occurs due to an underdeveloped uterus and vagina. So the vaginal canal will be formed short and narrow; the sexual intercourse will be painful.

Females with this condition make it impossible to carry a pregnancy without medical help. If the female has proper functioning ovaries and produces eggs, then IVF (in vitro fertilization) or surrogacy can be considered. This condition is known by many names, such as:

• CAUV (congenital absence of the uterus and vagina).

• Vaginal agenesis.

• Mullerian agenesis.

• Mullerian aplasia.

• GRES (genital renal ear syndrome).

What Are the Different Types of Mayer-Rokitansky-Küster-Hauser Syndrome?

There are two types, these are:

• Type 1: Females who are affected by this type will have a normally functioning uterus and fallopian tube, but the upper vagina, uterus, and cervix may be blocked or missing. Other organs are not affected.

• Type 2: Females affected by this type will have blocked or missing upper vagina, uterus, and cervix, along with some problems in the fallopian tube, spine, kidneys, ovaries, and other organs.

What Are the Symptoms Related to Mayer-Rokitansky-Küster-Hauser Syndrome?

The first sign of Mayer-Rokitansky-Küster-Hauser syndrome is the absence of the menstrual cycle by age 16. Some other symptoms of type 1 are:

• Painful sexual intercourse.

• Decreased vaginal width and depth.

Some symptoms of type 2 are:

• Kidney failure or complications are caused by abnormal development or positioning.

• Absence of a kidney.

• Hearing loss.

• Heart problems.

• Skeletal abnormalities.

• Other abnormalities in other organs.

What Are the Causative Factors of Mayer-Rokitansky-Küster-Hauser Syndrome?

There is no proper study regarding the causative factor of Mayer-Rokitansky-Küster-Hauser syndrome, but any problem with a gene or chromosome plays a role. This condition is usually not caused due to one gene. Usually, the reproductive system develops within the initial weeks of fetal development. From the Mullerian ducts, the vagina, fallopian tube, uterus, and cervix develop. However, in the case of Mayer-Rokitansky-Küster-Hauser syndrome, the Mullerian ducts do not develop completely. The exact cause of this condition is not known.

How Is Mayer-Rokitansky-Küster-Hauser Syndrome Usually Diagnosed?

Most cases of Mayer-Rokitansky-Küster-Hauser syndrome are diagnosed only when the affected female does not get the menstrual cycle up to 16 years of age. The doctor initially performs a physical examination. During the physical examination, the doctor inserts a gloved finger into the vagina to examine the depth and width. This examination will help the doctor analyze whether the vagina is short in length, which is the main feature of this condition.

The doctor will also recommend imaging tests such as ultrasound or MRI (magnetic resonance imaging) to examine other organs, such as the uterus, kidney, fallopian tube, and others, to see whether they are affected. A blood test will even be recommended to check hormonal levels.

How Is Mayer-Rokitansky-Küster-Hauser Syndrome Managed?

There are surgical and non-surgical treatment methods depending on the needs and goals of the treatment. Some treatment methods are:

• Vaginal Dilation: Vaginal dilators are used to stretch the vagina. They are usually made of plastic or silicon and are present in various lengths and widths. These tube-like devices help to expand and stretch the vagina. Based on the condition, the doctor will decide whether to use the vaginal dilators.

• Vaginoplasty: Vaginoplasty is a surgical procedure done to form a vagina; this is done by forming a hole and lining the hole with tissues taken from other areas.

• Uterus Transplant: This method of treatment can help the affected female to carry out pregnancy. This is a major surgical procedure that is performed by transplanting a uterus from a donor to a female with no uterus. This allows the affected female to carry and deliver a child.

What Is the Prognosis of Mayer-Rokitansky-Küster-Hauser Syndrome?

People with this condition can live to full term. If the affected female's ovaries are functional they can also have a baby. With the help of IVF, the sperm can fertilize the egg, which is then transferred to the carrier. Also, there is no date of early menopause if the ovary functions properly.

How Can Mayer-Rokitansky-Küster-Hauser Syndrome Be Prevented?

As Mayer-Rokitansky-Küster-Hauser syndrome is a congenital condition that occurs during the fetus's development, there is no way to prevent it. It can be genetic or occur in people with no family history. Lack of a signal gene results in Mayer-Rokitansky-Küster-Hauser syndrome.

What Are the Complications Related to Mayer-Rokitansky-Küster-Hauser Syndrome?

The health complications seen in people with type 2 Mayer-Rokitansky-Küster-Hauser syndrome are:

• Veterbal problem.

• Scoliosis is a condition that causes a sideways curve of the spine.

• Renal fusion (both the kidneys are fused) or renal agenesis (absences of one or both the kidneys).

• Enhance risk of kidney stones, ureteral obstruction, and UTI (urinary tract infection).

• Heart issues.

• Hearing issues.

Conclusion

Mayer-Rokitansky-Küster-Hauser syndrome is a condition that is usually seen in females. It is a congenital condition that occurs at birth. An underdeveloped vagina and uterus characterize this condition. This condition can be treated through various methods. Usually, females with this condition will not be able to carry pregnancy. It is a congenital condition that cannot be prevented, and the causative factor is unknown.