What is MRKH? - Fertility Center of Dallas
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What is MRKH?

The Fertility Center of Dallas has had the honor (and elation) of performing IVF for two of the most recent live births, resulting from a transplanted uterus. In both cases, the women receiving the transplanted uteri had the same fertility diagnosis – Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH).

We thought we’d provide more information about this rare – but easily identifiable – cause of female infertility.

Women with MRKH Syndrome Have Underdeveloped Reproductive Organs

MRKH Syndrome is a genetic condition that affects the female reproductive parts while they’re developing in-utero. It occurs in about 1 out of 4500 to 5000 newborn girls.

Women with MRKH syndrome have normal external genitalia, breast development and pubic hair. However, the internal vagina and/or uterus are often underdeveloped, or the uterus may be missing altogether.

Symptoms of MRKH

There are two different types of MRKH Syndrome – 1 and 2.

Because the birth defects occur internally, most women are completely unaware they have MRKH until they fail to menstruate regularly. By age 16- or 17-, their general physician and/or gynecologist will get curious and suggest a physical exam of the vagina – and perhaps an ultrasound – to establish MRKH is the cause. If an underdeveloped vagina and/or undeveloped or missing uterus are the only malformations – it’s Type 1.

With MRKH syndrome type 2, women also have malformed organs in other parts of the body. Incorrectly-formed and/or incorrectly positioned kidneys are one of the most common effects of type 2. In some cases one kidney is missing. Women with type 2 MRKH may also experience malformed spinal bones, heart defects and/or hearing loss.

How is MRKH Diagnosed?

If a gynecologist suspects MRKH, s/he will perform a very gentle vaginal exam, using something very small – like a Q-tip – to open the vagina. If it seems underdeveloped, s/he will recommend ultrasound (or MRI) to view internal organs and confirm the diagnosis.

How is MRKH Treated?

If you have type 2, you may require additional treatments to support the affected organs. With both types, women have the option to treat their underdeveloped vagina using dilators or surgery to create a normally-sized vagina. Nobody but you and your doctor would ever know you have MRKH unless you tell them – and you can enjoy a healthy, pain-free sex life.

As you get older and are preparing to have a baby, you’ll want to visit a fertility specialist to pursue assisted reproductive options.

Ovaries and Fallopian Tubes are Not Affected

While a diagnosis can be heartbreaking, meaning a woman will not be able to carry her own baby, there is a silver lining; the very large majority of women with MRKH have fully-functioning ovaries and fallopian tubes.

This means that they can still participate in creating their own baby, using their healthy egg(s), their partner’s sperm, IVF and a gestational carrier. (Yes, it’s true that uterus transplants have been successful, but the significant financial obligation required means most women need to use a gestational carrier to have a baby).

Do you suspect you or your daughter have MRKH? Schedule an appointment with a gynecologist with a reputation for his/her compassion and sensitivity to young girls and women. Do you have MRKH syndrome and are ready to work with a fertility specialist with extensive MRKH fertility treatment experience? Schedule a consultation here at the Fertility Center of Dallas.

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