Other Names for this Disease
- Congenital absence of the uterus and vagina
- Genital renal ear syndrome
- GRES syndrome
- Mayer Rokitansky Kuster Hauser syndrome
What are the signs and symptoms of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?
What causes Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?
Some women with MRKH syndrome have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals may also develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.
The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Müllerian 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 Müllerian duct in affected individuals in 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.
- Mayer-Rokitansky-Küster-Hauser syndrome. Genetics Home Reference (GHR). May 2010; http://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome. Accessed 6/13/2011.