What is Mayer-Rokitansky-Küster-Hauser syndrome?
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a condition that affects one in 5,000 people. Because of a lack of awareness, those with MRKH often experience delayed diagnosis. To help change this, we sat down with two experts to learn more about the condition and what kind of treatment we offer at our hospitals.
Introducing our experts
Maya Al-Memar is a consultant gynaecologist and service lead for our Differences in Reproductive Development Service (DRD), which covers paediatric and adolescent gynaecology and sees patients with differences in the way their reproductive organs have developed, including patients with MRKH.
Sotirios Saravelos is a consultant gynaecologist and subspecialist in reproductive medicine, predominantly based in the IVF unit at the Wolfson Fertility Centre at Hammersmith Hospital. Once patients with MRKH are referred to the Wolfson Fertility Centre from the DRD service, Sotirios and the team support them with their fertility journey.
What is Mayer-Rokitansky-Küster-Hauser syndrome?
Maya: MRKH affects one in every 5,000 people. It is a condition where you are born without a uterus (womb), cervix and upper two thirds of the vagina. Those with the condition have ovaries, so produce hormones and experience puberty. Typically, they present around the age of 16 with the absence of periods. This is known as primary amenorrhoea, and normally triggers investigations from their GP or other primary healthcare providers. Often diagnosis is protracted due to lack of experience about the condition.
How is MRKH diagnosed and treated?
Maya: Patients with suspected MRKH are referred to our service from across the UK, and from different departments and services within Imperial College Healthcare. Initially, patients visit our Differences in Reproductive Development (DRD) clinic, meet the team – including consultant gynaecologist, Miss Shyamaly Sur, our clinical nurse specialist, Maggie Campbell and our clinical psychologist, Dr Michelle Lipton – and have an MRI scan, blood tests to assess their hormonal profile and occasionally a blood test to test their chromosomes. We then review the results with our multidisciplinary team, including our specialist radiologists, Dr Nishat Bharwani and Dr Katherine Van Ree. We then see the patient again in our clinic to discuss the diagnosis, as well as the care and treatment options available to them.
There are three main aspects of care and treatment options. The first is vaginal dilatation (stretching the vagina). Those with MRKH will have the lower third of the vagina and for some, penetrative intercourse is important, so we will help them create a vagina that will allow them to have a happy and comfortable sex life. For others, this aspect of their treatment is an important part of their identity. Alongside Maggie Campbell, our clinical specialist, patients learn how to use a pelvic floor trainer/vaginal dilator to stretch the lower third of vaginal tissue. Our supervised method has an over 95% success rate.
The second aspect involves therapy sessions with Dr Michelle Lipton, our clinical psychologist, who has a wealth of experience in treating those with MRKH. Dr Lipton offers our patients an initial assessment and then uses a range of approaches, including cognitive behavioural therapy (CBT) and systemic therapy, to help support them with their diagnosis.
The third involves exploring options for parenthood. Some of our patients choose not to have a family but for those that want to start a family, this is possible through adoption or IVF surrogacy. For the latter, we refer patients to the Wolfson Fertility Centre at Hammersmith Hospital, and this is where we work closely with Sotirios and his team. Research is continuing into the future role of uterine/womb transplantation. And last week we announced that the UK’s first womb transplant has been performed by a team jointly led by Richard Smith, consultant gynaecological surgeon at the Trust and chair of Womb Transplant UK, and Isabel Quiroga, consultant transplant and endocrine surgeon at Oxford University Hospitals NHS Foundation Trust.
What are the fertility options for patients with MRKH?
Sotirios: Once patients with MRKH are referred to the Wolfson Fertility Centre from the DRD service, a multi-disciplinary team of reproductive medicine consultants, including Miss Monica Mittal, Mr Raj Rai and Mr Rehan Salim, embryologists and fertility nurses support them with their fertility journey.
One response from many patients diagnosed with MRKH is the fear that they will not be able to have a baby. However, the good news is that these women still have functioning ovaries, so we give them medication to stimulate their ovaries to produce eggs. These eggs are then collected and mixed with a partner’s/donor’s sperm to make an embryo which is then implanted into a surrogate. Of course, there is also the option to freeze these eggs and carry out the surrogacy process at a later stage.
In terms of the chosen surrogate, this can vary from someone who has already had children and wants to give this gift to someone else, to the patient’s family member such as their mother – so this could mean that a woman may have given birth to both her daughter and grandchild! As you can imagine, we often deal with very unique and emotional cases.
One of the key challenges with IVF is that success is not always guaranteed, and nature still plays a very key role in determining whether treatment will lead to a successful pregnancy. However, in the last few years we have seen tremendous developments in the field. For example, we are now able to collect eggs in cases that were previously considered very challenging. The laboratories have also developed significantly and are now able to routinely freeze and thaw eggs and embryos for treatment. This has led to treatments previously considered experimental, to nowadays be considered routine.
There are also very exciting developments in the field of genetics and AI. One of the biggest challenges in IVF is being able to identify the embryos that are likely to become a healthy baby, as not all of them are able to do so. Analysing the genetic composition of each embryo may eventually help us identify which embryos to transfer. Equally, using AI and machine learning to monitor the shape of the cells and the speed at which the embryo develops and reaches certain milestones, may allow us to identify the embryos that are more likely to work. These are very exciting developments, especially in light of the physical and emotional toll IVF can have on our patients.
How else do we support patients?
Maya: The DRD service has a support group for MRKH patients which runs twice a year. Historically we have run sessions on vaginal dilatation, psychological support and group therapy. During our most recent support group in April 2023, Sotirios gave a talk on egg freezing and IVF surrogacy.
One of the main areas of controversy that came up from this recent session is the fact that individuals with MRKH are not automatically eligible for NHS funded IVF. Women with cancer receive this automatically, whereas those with MRKH are often refused – despite being born with the condition. Currently, each fertility specialist in the NHS must apply for an individual funding request (IFR) on behalf of the patient/couple and then there is a postcode lottery for who will receive funding.
Patients, staff and representatives from MRKH charities who attended this meeting have been galvanised to work together to advocate for those with MRKH to ensure funding of IVF/egg freezing is fairer and access to funding is equitable.
Sotirios: We must always aspire for more. My hope for the future is that it won’t be considered a miracle for women born without a uterus to have a baby. The technology is there – the real obstacles are funding and access rather than it being medically challenging or impossible.
