Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) synonyms

Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH), also known as Müllerian agenesis or vaginal agenesis, is a rare congenital disorder that affects the reproductive system in females. It is characterized by the absence or underdevelopment of the uterus and upper part of the vagina, while the external genitalia appear normal.

MRKH syndrome is typically diagnosed during adolescence when a young woman fails to start menstruating. The condition is caused by a failure of the Müllerian ducts, which are responsible for the development of the uterus, fallopian tubes, and upper vagina, to develop properly during fetal development. The exact cause of this developmental abnormality is not yet fully understood.

Women with MRKH syndrome often have normally functioning ovaries, which means they can produce eggs. However, due to the absence of a uterus, they are unable to carry a pregnancy. This can have a significant emotional impact on affected individuals, as they may experience feelings of grief, loss, and infertility.

Diagnosis of MRKH syndrome involves a physical examination, imaging tests such as ultrasound or MRI, and sometimes genetic testing. Treatment options for MRKH syndrome focus on addressing the reproductive and psychological aspects of the condition. Vaginal dilation therapy is commonly recommended to stretch and expand the underdeveloped vagina, allowing for sexual intercourse and the potential for future reproductive procedures such as in vitro fertilization (IVF) or surrogacy.

Counseling and support groups play a crucial role in helping individuals with MRKH syndrome cope with the emotional and psychological challenges associated with the condition. It is important for affected individuals to receive comprehensive care from a multidisciplinary team, including gynecologists, psychologists, and reproductive specialists.

In conclusion, Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is a rare congenital disorder characterized by the absence or underdevelopment of the uterus and upper part of the vagina. While it presents challenges in terms of fertility and sexual function, there are treatment options available to support affected individuals in leading fulfilling lives.