MRKH and Characteristics

MRKH (Mayer-Rokitansky-Küster-Hauser) Syndrome is a congenital condition, meaning it is present at birth.

It is named after the four physicians who first diagnosed the condition and it results from the incomplete development of the female reproductive tract. MRKH affects around 1 in every 5000 women. It results in an absent uterus, cervix and upper vaginal canal.

Women with MRKH are genetically female and have a normal chromosome pattern – 46, XX. Breast development and external genitalia occur because they have normal ovarian function.

Other symptoms may include the kidneys being abnormally positioned, or one kidney failing to develop. Skeletal abnormalities, particularly of the spinal bones, may be present and usually detected in the vertebrae. A small minority of women may also encounter hearing loss and/or heart defects. If this is the case, then it is likely to be known as MRKH Type II, whereas an isolated case, just MRKH, is known as Type I.


External development is normal for women with MRKH, however, they do not start having periods. This is because the ovaries produce the female hormones that make normal development occur, but the absence of the vagina and uterus mean that there is no period. This is usually the first sign and is normally detected around the age of 16, where women may then go on to seek the advice of a local doctor or physician. Most women will then usually be referred to see a specialist in gynaecology, where they are likely to undergo an ultrasound or an MRI scan to confirm the diagnosis.


Deciding which treatment, if any, a woman with MRKH should choose is best agreed with their doctor or specialist.

The most common and successful way a woman will develop a vagina is through vaginal dilation. This is successful in at least 85% of women, and is usually the first route a doctor will look into.  Some women may also use their partners to assist them in the creation of a vagina, however this must always be done with caution and it is best to visit a specialist to check it is being done safely.

Surgical options are available as well, with new procedures taking place all over the world. However, most surgeries to create a vagina will usually require post-surgical dilation. A lot of consideration must be taken into account, as some of these surgeries can be very invasive.

Even though women with MRKH are not able to become pregnant or carry their own children, it is still possible for most to have biological children. This is usually done through the use of surrogacy and reproductive therapies such as IVF (In vitro fertilisation.) Adoption is also another common option for women with MRKH.


CONTACT : Queen Charlotte's and Chelsea Hospital, London, is the specialist hospital in the UK for MRKH. If you would like to get in touch with the team there, please email Nuala Dixon at This email address is being protected from spambots. You need JavaScript enabled to view it.