Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder seen in women that is characterized by an underdeveloped or absent vagina and uterus. MRKH syndrome does not affect external genitalia development, meaning girls with the condition have normal labia, clitoris, lower vagina, and pubic hair.
Women with MRKH syndrome also have a normal female chromosome pattern (46, XX) with normal ovarian function. Some women may have a hunchback, elevated shoulder blade, smaller jaw, or a short neck. Affected women may not have menstrual periods (primary amenorrhea) due to an absent or underdeveloped uterus.
What are different types of MRKH syndrome?
MRKH syndrome may present in two forms:
- MRKH syndrome type I: Only the reproductive organs are affected. Other organs are normal.
- MRKH syndrome type II: Kidneys may be abnormally formed or positioned. One kidney may fail to develop (unilateral renal agenesis). There may be skeletal and spinal anomalies as well, along with hearing loss or heart defects.
What causes MRKH syndrome?
MRKH syndrome is estimated to affect 1 in about 4,000 to 5,000 women worldwide. The exact cause is unknown, although it appears to be a result of a combination of genetic and environmental factors.
One theory is that certain medications during pregnancy or maternal diseases such as gestational diabetes may increase the risk of MRKH syndrome in the baby, but this claim has not been proven.
Some researchers have proposed that in familial cases, the disorder is perhaps inherited as an autosomal dominant trait, which means that just one copy (allele) of the gene is sufficient to cause the disease.
What are the symptoms of MRKH syndrome?
MRKH syndrome type I
MRKH syndrome type I is also known as isolated Mullerian aplasia or Rokitansky sequence. Affected women may present with:
- Absence of menstrual period (amenorrhea)
- Dimple in place of a vagina
- Difficulty attempting sexual intercourse due to the shortness of the vagina
- Pain during sex
The severity of MRKH syndrome type I varies greatly from one woman to another. In many cases, the uterus and/or vagina is completely absent. In rare cases, there is only narrowing (atresia) of the upper portion of the vagina (a vaginal dimple) and an underdeveloped uterus. In some cases, the fallopian tubes may be affected. The ovaries of women with MRKH syndrome are always unaffected.
Sex hormone levels, female sexual identification, and level of sexual desire (libido) are all normal.
MRKH syndrome type II
Women with MRKH syndrome type II may present with:
- Renal (kidney) complaints such as:
- Increased incidence of urinary tract infections and kidney stones
- Abdominal pain
- Growth deficiency
- Kidney failure
- Blood in urine
- Missing and/or fused neck vertebrae, which can cause:
- Short neck
- Limited movements
- Abnormally low hairline
- Abnormal sideways curvature of the spine (scoliosis)
- Elevation of the shoulder blade (scapula)
- Abnormally small jaw (micrognathia)
- Cleft lip
- Cleft palate
- Underdevelopment of one side of the face causing facial asymmetry
- Structural abnormalities of the middle ear, which may cause:
- Conductive-type hearing loss due to problems with sound conduction
- Sensorineural hearing loss due to impaired ability of the auditory nerve to transmit sensory input to the brain
Rare symptoms may include:
- Absence of a portion of one or more fingers or toes (ectrodactyly)
- Webbing of the fingers or toes (syndactyly)
- Duplicated thumb and absence of the long, thin bone of the forearm (absent radius)
Heart defects may include:
- Atrial septal defects (a hole in the heart)
- Narrowing of the pulmonary valve (pulmonary valvular stenosis)
- Tetralogy of Fallot, a rare grouping of four heart defects
Can you get pregnant with MRKH syndrome?
Natural pregnancy is not possible in women with MRKH syndrome due to an absent or underdeveloped uterus. Because these women have functioning ovaries, however, they may be able to have children through assisted reproduction or surrogacy.
Assisted reproduction methods vary on a case-to-case basis. Because MRKH syndrome has a genetic basis, there is a risk of passing the condition to the baby, and this must be discussed before making plans to have a baby.
Another option is uterus transplantation. As of 2020, about 100 uterus transplants have been conducted throughout the world. Of these, about 30 have been in the United States.
In November 2019, a woman enrolled in the UNTIL trial successfully delivered a second baby in the United States to be born following transplantation of a uterus from a deceased donor. Recent trials have attempted to explore donation from both living and deceased donors—to expand the pool of organs available for transplantation.
What treatment options are available for MRKH syndrome?
Apart from fertility counseling and assistance, affected women are taught to self-dilate their vaginas without surgery by using small rods of gradually increasing size.
Vaginoplasty is a surgical option if self-dilation doesn’t achieve desired results. The procedure involves creating a functional vagina using a skin graft from the buttocks or a portion of the bowel. A dilator and artificial lubricant will be needed during intercourse to help achieve and maintain a functional vagina.
Other treatment options depend on coexisting conditions and often require coordinated efforts of a team of specialists including internists, gynecologists, kidney specialists (nephrologists), endocrinologist, orthopedic surgeons, plastic surgeons, physical therapists, psychiatrists, and other healthcare professionals.
- Attachment Theory: What It Is, Stages & the Different Attachment Styles
- Gentle Parenting: What It Is, Techniques & Discipline
- U.S. Nursing Homes Fail to Report Many Serious Falls, Bedsores: Study
- The Younger You Get Diabetes, the Higher Your Risk for Dementia Later
- FDA Grants Full Approval to Paxlovid to Treat COVID-19
- More Health News »
Health Solutions From Our Sponsors
Top What Does MRKH Syndrome Look Like Related Articles
AmenorrheaAmenorrhea (including hypothalmic amenorrhea) is a condition in which there is an absence of menstrual periods in a woman. There are two types of amenorrhea: primary and secondary. Treatment of amenorrhea depends on the type. In primary, surgery may be an option and in secondary amenorrhea medication or lifestyle changes may be treatment options. We go over the definition of amenorrhea, causes, and treatment options for amenorrhea.
Can Vaginal Atrophy Be Reversed?Learn what medical treatments can ease your vaginal atrophy symptoms and help you manage this condition.
Female Reproductive SystemThe female reproductive system is designed to carry out several functions, including:
- producing the female egg cells,
- conception, and
- producing female sex hormones that maintain the reproductive cycle.
- urethra, and
- vaginal opening.
Infertility QuizWhat is the medical definition of infertility? Take the Infertility Quiz to learn the risks and treatment of infertility. Our answers may surprise you!
Infertility TreatmentLearn about fertility options such as IVF (in vitro fertilization), acupuncture, and natural lifestyle choices. Read about infertility in men and women as well as treatment costs and pregnancy success rates.
Innie vs. Outie Vagina: Which Is More Common?Both innie and outie vaginas are equally common, although some studies suggest that over 50% of women have outies. Both are normal.
Is It Normal for Your Labia to Stick Out?Labia minora hypertrophy is a usual growth and doesn’t have any specific cause. The width and length of the inner lips may vary in different women. There are no standard measurements for the size of the labia minora because there can be a lot of different sizes.
What Are Polycystic Ovarian Syndrome (PCOS) Symptoms?Polycystic ovarian syndrome (PCOS), also known by the name Stein-Leventhal syndrome, is a hormonal problem that causes women to have a variety of symptoms including irregular or no menstrual periods, acne, obesity, and excess hair growth. Treatment of PCOS depends partially on the woman's stage of life and the symptoms of PCOS.
Vagina PictureThe vagina is an elastic, muscular canal with a soft, flexible lining that provides lubrication and sensation. See a picture of the Vagina and learn more about the health topic.
Vaginal Health Quiz: Test Your Medical IQTake this Vaginal Health Quiz to learn about about common problems that women experience, and when to see a doctor about problems down there.
What Are Common Reproductive Health Issues?Reproductive health issues affect millions of Americans each year. Learn about common reproductive health issues for both men and women.
What Does Ambiguous Genitalia Look Like?Newborn males may present ambiguous genitalia as a very small penis mistaken for an enlarged clitoris, whereas newborn females may not have a vaginal opening.
Why Would Someone Get a Labiaplasty?Labiaplasty is a surgical procedure to alter the shape and size of the labia minora. Labia minora are the inner “lips” of the vulva, a woman’s external genitals. Labiaplasty is the removal of excess tissue from enlarged labia minora to make them symmetrical with the labia majora, which are the outer lips of the vulva.