Mayer–Rokitansky–Küster–Hauser syndrome

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare disorder that affects the reproductive system of females, leading to the underdevelopment or absence of the uterus and the upper part of the vagina. It is named after the four doctors who first described the conditions that make up the syndrome: August Franz Josef Karl Mayer, Carl Freiherr von Rokitansky, Hermann Kuster, and G.A. Hauser. MRKH syndrome is categorized into two types: Type I, which involves only the reproductive system, and Type II, which also includes abnormalities in other parts of the body, such as the kidneys and spine. This condition is present from birth and usually becomes apparent during adolescence when menstruation fails to begin.

Symptoms and Diagnosis

The primary symptom of MRKH syndrome is primary amenorrhea, which is the absence of the first menstrual period by the age of 16. Individuals with this syndrome typically have normal external genitalia and normal ovarian function, which means they can produce eggs, have normal hormone levels, and experience the typical signs of puberty such as breast development. However, due to the absence or underdevelopment of the uterus and vagina, they are unable to menstruate or carry a pregnancy.

Diagnosis of MRKH syndrome involves a combination of physical examinations, imaging tests such as ultrasound or MRI to visualize the reproductive organs, and sometimes laparoscopy. Genetic testing may also be conducted to rule out other conditions.

Causes

The exact cause of MRKH syndrome is unknown, but it is believed to be a result of a combination of genetic and environmental factors. It occurs randomly and is not thought to be inherited.

Treatment

Treatment for MRKH syndrome focuses on the psychological and reproductive aspects. Psychological counseling is often recommended to help individuals cope with the diagnosis and its implications. For those who wish to have a functional vagina, options include nonsurgical methods such as the use of vaginal dilators, or surgical procedures to create or enlarge the vagina. Fertility options for women with MRKH syndrome include surrogacy or adoption, as they typically have functioning ovaries.

Epidemiology

MRKH syndrome affects approximately 1 in 4,500 newborn girls worldwide. It is one of the leading causes of primary amenorrhea in females.

See Also

• Vaginal agenesis
• Primary amenorrhea
• Female reproductive system

External Links

• [National Organization for Rare Disorders (NORD) - MRKH Syndrome]
• [MRKH Organization]

Mayer–Rokitansky–Küster–Hauser syndrome Resources
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