About MRKH

What is MRKH?

Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a congenital condition (meaning present at birth). MRKH occurs in 1 in 5000 females. Typically, MKRH is characterised by the under development or absence of the uterus, cervix and upper portion of the vagina.

Due to the absence of the uterus, people with MRKH will typically not experience menstrual periods, medically known as amenorrhea. Primary amenorrhea (absence of periods) is the most common reason that women with MRKH present for medical investigation. People with MRKH syndrome have female chromosomes (46XX) and typical ovarian function. 

MRKH syndrome comprise of a collection of symptoms that results in the incomplete formation of the Mullerian ducts. ​This occurs in the first 6-8 weeks of gestation. There are currently no known environmental or inherent factors for why this occurs. Because the ovaries are producing hormones appropriately, people with MRKH will have typical external genitalia and breast development and although a person with MRKH is incapable of carrying a pregnancy, they are able to have biological children through gestational surrogacy with the assistance with reproductive technologies such as IVF (in vitro fertilisation). 

Some people with MRKH have other congenital anomalies, such as renal agenesis (absence of kidney), skeletal abnormalities, hearing loss and/or heart defects.

What causes MRKH?

The exact cause of MRKH syndrome is unknown. Studies have been undertaken which have identified genetic changes within some affected individuals.

The reproductive changes 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 is unknown.

It is also unclear why some affected individuals have abnormalities in parts of the body other than the reproductive system. Certain tissues and organs, such as the kidneys, develop from the same embryonic tissue as the Müllerian duct.

FAST FACTS

  • MRKH occurs in 1 in 5000 females

  • It occurs due to the incomplete formation of the Mullerian ducts, in the first 6-8 weeks of gestation

  • There is no clear reason why it occurs, and no common environmental factors have been identified

  • People with MRKH develop typical external genitalia and breast development, but are unable to carry a baby

  • MRKH can, in some cases, cause other congenital abnormalities, such as renal, skeletal, heart or hearing problems