What Is MRKH Syndrome? – Causes, Symptoms & Treatment

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis, is a congenital malformation that develops in females and affects the reproductive system. It mainly causes the vagina and uterus to be underdeveloped or absent, that is, women are born without a womb. External genitalia are normal, though.

A person without a uterus cannot carry a pregnancy naturally. Women born without a uterus have no alternative but to turn to IVF surrogacy to have biological children, provided that they can use their own eggs, or adoption. As for uterus transplantation, it is still a experimental procedure, so it cannot be considered a treatment option for women with MRKH syndrome.

Definition

MRKH syndrome or Müllerian agenesis is a congenital condition that causes women to be born without a uterus. It is a resultant of a failed embryo development and fusion of the Müllerian ducts between weeks 4-12 of pregnancy.

The condition affects 1 out of 5000 women worldwide. Currently, the particular causes leading to Müllerian agenesis are still unknown. However, it is believed that multiple genes and factors are involved.

As a consequence, the parts of the female reproductive system that derive from the Müllerian ducts, including the vagina, uterus, tubes and urinary system, do not form adequately.

Comparison between normal uterus and MRKH syndrome

The ovaries, conversely, are perfectly normal, with their anatomy and function working with normality. Indeed, this happens because the ovaries form from a structure other than de Müllerian duct during embryo development.

Symptoms & consequences

One of the most common symptoms of Müllerian agenesis is primary amenorrhea, that is, when a girl does not start her monthly periods.

Contrary to popular belief, MRKH infertility does not affect the proper development of sex characteristics in these women: they produce female sex hormones when they reach puberty, monthly ovulation occurs, and they become adults in the same way as women without the syndrome.

Symptoms such as pelvic pain have also been associated with MRKH syndrome, although they occur rarely. The causes of pelvic pain are varied:

• Presence of a partial endometrial cavity
• Rudimentary uterus with fibroids
• Endometriosis from retrograde menstruation from obstructed uterine horns

As for the consequences of being born without a womb, the following are the most common ones:

Painful intercourse

Given that the vagina is underdeveloped or absent, intercourse becomes complicated and painful (dyspareunia) in most cases.

Renal malformations

Less common complications (only 15% of cases) are those associated with the renal system, including pelvic pain, horseshoe kidney, hydroureteronefrosis, and urethral duplication.

Skeletal abnormalities

Particularly of the spinal bones (vertebrae), although in some cases limb anomalies are present as well. Their incidence rate ranges between 12% and 50%.

Infertility

When there is no uterus, pregnancy cannot take place. In other words, female infertility is present in all cases of Müllerian agenesis.

The presence of these abnormalities can lead to a diagnosis of the Mayer-Rokitansky-Küster-Hauser syndrome, although some tests will be required before making a definitive diagnosis.

Diagnosis & treatment

In most cases, MRKH syndrome is diagnosed at age 15-18 through ultrasound or MRI (magnetic resonance imaging). The first alarming symptom, and the reason why these girls visit the doctor, is the absence of menstrual periods in spite of a normal development of secondary sex characteristics.

External genitalia look normal to the naked eye, so a routine gynecological exam could not detect the absence of a womb. However, an ultrasound allows the doctor to see an absent or too short vagina, aside from a rudimentary uterus or the total absence of a womb and Fallopian tubes.

Ultrasound for the diagnosis of MRKH syndrome

As explained earlier, these patient have the right number of chromosomes (46,XX). For this reason, karyotype testing is also advisable in order to determine the presence of other diseases that might lead to uterine anomalies.

After making a definitive diagnosis and having confirmed that it is indeed a case of Müllerian agenesis, your doctor will determine the best treatment for you to enjoy intercourse. Basically, you have two options:

Non-surgical treatment

Non-surgical treatment of Müllerian agenesis involves a technique known as vaginal dilation. Vaginal dilators work by stretching the skin of the vaginal area slowly over time. The pressure applied causes the skin to stretch and the vaginal canal to form eventually. You will start using dilators of the smallest size until you're ready for the next sizes.

The most widely used dilators are known as Frank dilators, which are strongly recommendable at the beginning of the treatment in an attempt to create a vagina that measures around 8-10 cm. The effectiveness rate reaches 90% and it can take as little as 6 months, or as long as several months, depending on each woman.

Surgical treatment

When the use of dilators doesn't lead to successful outcomes, surgery might be required in order to create a neovagina.

For instance, the McIndoe vaginoplasty is a technique used to create a canal that resembles a normal vagina in appearance between the recto-vesical pouch. The neovagina is created with a split-thickness skin graft harvested from the patient and a synthetic mold resembling a penis. The mold is with the skin graft is placed into the vaginal canal. After removing the synthetic mold, the patient has to use vaginal dilators for around 3 months to have a satisfactory vagina.

Surgical vaginal creation

Although this surgical procedure is painful and recovery is hard, when the adapting process finishes, the woman will be ready to enjoy sex as any other woman.

Having a baby

Unfortunately, women with MRKH syndrome are unable to get pregnant and carry a child until birth due to the absence of a womb or because it is underdeveloped. This leaves them no choice but to turn to other options to have offspring.

The good news is that they have various alternative options to have babies, as one shall see in the following three sections:

Adoption

Adoption is a process whereby a person other than the biological parents (i.e. the adoptive parents) assumes the parenting of a baby or child.

Traditionally, adoption has allowed women and couples to become the rightful parents of a child in spite of sharing no genetic link. A child can be adopted as a toddler or adolescent, as long as he or she cannot be brought up within their birth family.

Surrogacy

Surrogacy or surrogate motherhood is a third-party reproduction treatment option whereby a woman who is unable to bear a pregnancy has the chance to have biological children.

A gestational surrogate (GC) receives an embryo created using the egg and sperm of another couple, i.e. the intended parents, who cannot have children through natural conception. After giving birth, the GC gives the baby to the intended parents, who become the legal parents of the child.

MRKH syndrome and surrogacy

Gestational surrogates or carriers get pregnant by means of In Vitro Fertilization (IVF). Get more info by clicking the following link: What Is IVF Surrogacy? – Process, Success Rates & Cost.

In case the intended parents cannot use their own eggs and/or sperm, donor conception is another plausible option to be used in surrogacy arrangements. In this case, they will be the rightful parents, but won't share their DNA with the child's.

Uterus transplantation

Nowadays, uterus transplantation (UTx) is still a highly experimental procedure. Even though some procedures have been performed with successful outcomes, experience is still insufficient as to use it as a routine treatment option by specialists.

UTx is indeed a technically challenging treatment. In short, it involves the following steps:

1. Choosing an organ donor that is compatible with the recipient woman and removing her womb by hysterectomy.
2. Transplanting the uterus to the recipient. This is a complex, as the blood vessels must be perfectly connected to each other.
3. The recipient has to undergo immunosuppressant therapy (antirejection medicines) to prevent her body from trying to destroy the new organ.
4. Confirming that the recipient's body doesn't reject the new organ and that acceptation is normal. Menstrual periods should start and the new womb is expected to work properly.
5. IVF embryo transfer to the new womb and pregnancy.
6. Removal of the transplanted uterus after delivery to prevent long-term complications.

FAQs from users

What is MRKH infertility?

MRKH infertility is a synonym of MRKH syndrome or Müllerian agenesis. Given that women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are born without a uterus, they are infertile by default—pregnancy is impossible without a uterus. That's why the terms MRKH and infertility have become a single concept.

Can you get pregnant with no uterus?

Absolutely not. As mentioned repeatedly throughout this article, having a uterus is a sine qua non condition to get pregnant and be able to carry the child until birth. Without a uterus, a pregnancy is impossible. That's precisely the reason why men can't become pregnant.

Do you still get a period without a uterus?

No, it is not possible. The menstrual periods occurs on a monthly basis because the endometrial lining sheds if no embryo implants. The endometrial or uterine lining is the inner layer of the uterus. Without a uterus, there's no endometrial lining either, so women with Müllerian agenesis have no periods.

How do women with vaginal agenesis pee?

Women do not pee through the vagina, but out of a hole that is near the entrance of the vagina. In women who don't have a vagina, the urethra isn't located inside the vagina, but just outside of where it would be if there was a vaginal canal.

Can a woman without womb menstruate?

No, it is not possible. Women suffering from MRKH syndrome do not have periods. No uterus equals no periods.

Can a transgender woman get pregnant?

No, or at least not naturally. A man who has transitioned to woman (MTF) would have to turn to any of the above said treatment options to have children: adoption or surrogacy. Uterus transplantation might be a plausible option, but it's still experimental.

Suggested for you

MRKH syndrome or Müllerian agenesis is a uterine cause of female infertility. To learn more about uterine factor infertility, check this guide out: What Is Uterine Factor Infertility?

Surrogacy is a very feasible option for women with MRKH infertility, as it allows them to have biological children in spite of being unable to bear the pregnancy. Learn more: What Is Surrogacy & How Does It Work?