Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome

During early development the womb, cervix and upper vagina form from paired structures called Mullerian ducts. In MRKH syndrome this process is incomplete. The result is a shallow vaginal dimple or short vagina and no functioning womb, although the external genitalia look typical and ovaries develop normally, so oestrogen is produced and puberty progresses on schedule.

MedlinePlus Genetics says the cause is not fully understood. Changes in several genes have been found in a small number of affected people, and the picture probably involves genetic and environmental factors acting together during fetal development. Most cases occur without any family history, although occasionally more than one relative is affected.

The usual story is a teenager who has normal breast growth but no periods. A GP, and then a paediatric or adolescent gynaecology team, will examine her and arrange blood tests that show normal female hormone levels, a chromosome test showing a typical female pattern, and imaging. Pelvic ultrasound and often MRI show whether a womb is present and look at the kidneys, since urinary tract differences can accompany MRKH.

Other conditions that cause primary amenorrhoea need to be separated out. Androgen insensitivity syndrome can look similar externally, but chromosomes and hormone patterns differ. A blocked hymen or a vaginal septum can cause trapped blood and pain and are treatable by simple surgery, so they must be excluded.

• Blood tests for oestrogen, FSH, LH and testosterone.

• Karyotype to confirm chromosomes.

• Pelvic ultrasound and MRI.

• Kidney imaging and sometimes spine and hearing checks.

In type 1, only the womb and upper vagina are affected. In type 2, which MedlinePlus Genetics describes as also possibly involving kidney abnormalities, hearing loss, heart defects or skeletal differences, additional checks are recommended. A kidney scan is routine because one kidney may be absent or sit low in the pelvis. Hearing tests and spinal assessment are offered if relevant. Most people with either type are healthy and live without major medical problems.

A vagina that is long enough for comfortable sex can be created without surgery in many people, using graduated vaginal dilators over weeks or months. Specialist nurses or physiotherapists guide pressure and technique, and the first-line approach is generally non-surgical because it avoids operative risks. The right moment is when the young person feels ready, which may be well after diagnosis.

Surgical techniques exist for those in whom dilators do not work or who prefer an operation. These are specialist procedures with risks of their own, which can include narrowing, so dilation is typically needed afterwards. Decisions are made slowly, with psychological support alongside.

Without a womb, pregnancy is not possible naturally. Because the ovaries work, eggs can be collected and used with a gestational carrier (surrogate), and the child is genetically the woman own. UK surrogacy law has specific legal requirements on parenthood, and a fertility clinic or solicitor with expertise should be consulted. Adoption and fostering are other ways to form a family.

Uterus transplantation has been explored as a research option in some countries, but availability is very limited and eligibility is strict, so it should not be regarded as a routine option; ask the specialist team what is currently offered. Egg freezing may be discussed in some cases for future planning.

Receiving this diagnosis can bring grief, anxiety about relationships and questions about identity. Talking therapy, peer support and a specialist team that treats the person rather than just the anatomy are important. Many people report relief on meeting others with MRKH, and clinical teams commonly signpost to patient groups. Partners and parents may also need information and support.

Because the ovaries function, there is no early menopause driven by the condition itself, and hormone replacement is not required. Routine cervical screening is not needed where there is no cervix, and a specialist will advise on what applies. Periodic review of kidney health is sensible if an abnormality was found.