Question: How many people are affected by Mayer-Rokitansky-Kster-Hauser syndrome ?
Answer: MRKH syndrome affects approximately 1 in 4,500 newborn girls.
Source: GHR

Question: What are the genetic changes related to Mayer-Rokitansky-Kster-Hauser syndrome ?
Answer: The cause of MRKH syndrome is unknown, although it probably results from a combination of genetic and environmental factors. Researchers have not identified any genes associated with MRKH syndrome. The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Mllerian duct. This structure in the embryo develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Mllerian duct in affected individuals is unknown. Originally, researchers believed that MRKH syndrome was caused by something the fetus was exposed to during pregnancy, such as a medication or maternal illness. However, studies have not identified an association with maternal drug use, illness, or other factors. It is also unclear why some affected individuals have abnormalities in parts of the body other than the reproductive system.
Source: GHR

Question: Is Mayer-Rokitansky-Kster-Hauser syndrome inherited ?
Answer: Most cases of MRKH syndrome occur in people with no history of the disorder in their family. Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. However, in some families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is typically sufficient to cause the disorder, although no genes have been associated with MRKH syndrome.
Source: GHR

Question: What are the treatments for Mayer-Rokitansky-Kster-Hauser syndrome ?
Answer: These resources address the diagnosis or management of Mayer-Rokitansky-Kster-Hauser syndrome: - American Urological Association Foundation: Vaginal Agenesis - Children's Hospital Boston: Center for Young Women's Health - Genetic Testing Registry: Rokitansky Kuster Hauser syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR