Summary about Disease
Kuster syndrome, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a congenital disorder that primarily affects females. It is characterized by the absence or underdevelopment of the uterus and upper part of the vagina. Individuals with MRKH syndrome typically have normal external genitalia and normal functioning ovaries, resulting in normal secondary sexual characteristics and normal hormone production. However, they are unable to carry a pregnancy. The disorder affects approximately 1 in 4,000 to 5,000 newborn females.
Symptoms
The primary symptom of MRKH syndrome is primary amenorrhea, which is the absence of menstruation by age 16 in girls with normal secondary sexual characteristics (breast development, pubic hair) or the absence of menstruation by age 14 in girls without secondary sexual characteristics. Some affected individuals may experience difficulty with sexual intercourse due to the shortened or absent vagina.
Causes
The exact cause of MRKH syndrome is not fully understood. It is generally considered a sporadic (non-inherited) condition, meaning that it usually occurs randomly and is not passed down through families. However, some research suggests a possible genetic component, as clusters of cases have been reported in some families, although this is rare. It is believed to be due to a disruption during fetal development, specifically in the Müllerian ducts, which are responsible for forming the uterus, fallopian tubes, and upper vagina. A combination of genetic and environmental factors might play a role.
Medicine Used
There is no medication to "cure" MRKH syndrome, as it is a congenital anatomical condition. However, hormone replacement therapy (HRT) may be prescribed to ensure adequate estrogen levels, especially if there are concerns about bone health. Treatment focuses on managing the physical symptoms and providing emotional support.
Is Communicable
No, MRKH syndrome is not communicable. It is a congenital condition, not an infectious disease, and cannot be transmitted from person to person.
Precautions
There are no specific precautions to prevent MRKH syndrome, as its cause is largely unknown and thought to be sporadic. Genetic counseling may be considered for families with a history of MRKH syndrome or related conditions, but it is not a guarantee of prevention.
How long does an outbreak last?
MRKH Syndrome is not an outbreak, it is a congenital conditon, therefore this is not applicapble.
How is it diagnosed?
MRKH syndrome is typically diagnosed during adolescence when a girl does not start menstruating. Diagnostic methods include:
Physical Examination: To assess the external genitalia and check for the presence of a vagina.
Pelvic Ultrasound or MRI: To visualize the uterus and ovaries. In MRKH syndrome, the uterus will be absent or rudimentary.
Karyotype Analysis: To rule out chromosomal abnormalities (although individuals with MRKH syndrome usually have a normal female karyotype of 46, XX).
Laparoscopy: In some cases, a minimally invasive surgical procedure called laparoscopy may be performed to directly visualize the pelvic organs.
Timeline of Symptoms
During Fetal Development: The anatomical abnormalities develop during the early stages of fetal development (around weeks 6-12).
Adolescence (Around Puberty): The condition is typically first suspected when the individual does not start menstruating by the expected age.
Post-Diagnosis: Symptoms related to vaginal agenesis, such as difficulty with sexual intercourse, may become apparent when the individual becomes sexually active.
Important Considerations
Emotional Support: Diagnosis of MRKH syndrome can be emotionally challenging, especially for young women. Counseling and support groups can be very helpful.
Vaginal Reconstruction: If desired, surgical or non-surgical methods can be used to create a functional vagina, allowing for sexual intercourse.
Fertility Options: Individuals with MRKH syndrome have normal ovaries and can produce eggs. Therefore, they can become biological mothers through assisted reproductive technologies like in-vitro fertilization (IVF) and using a gestational carrier (surrogate).
Related Anomalies: Individuals with MRKH syndrome may sometimes have other congenital anomalies, particularly affecting the kidneys or skeleton. Careful evaluation is important to identify and manage any additional medical issues.