Last updated:
7/28/2025
Years published: 1996, 2003, 2011, 2014, 2025
NORD gratefully acknowledges Moriah Wells, Medical Affairs Assistant and Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders, for assistance in the preparation of this report.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder that affects the development of the uterus and the vagina.1
Females with this disorder develop secondary sexual characteristics during puberty (e.g., breast development and pubic hair) but do not have a menstrual cycle (primary amenorrhea). The failure to begin the menstrual cycle is usually the first clinical sign of MRKH syndrome. The range and severity of MRKH syndrome can vary greatly and the disorder is generally broken down into type 1, which occurs as an isolated finding, and type 2, which occurs along with problems in other organs of the body such as the kidney and bones. Because of the nature of the disorder, MRKH syndrome can cause significant psychological challenges and counseling is recommended.
Females with MRKH syndrome have a congenital absence or underdevelopment of the Müllerian ducts, which are the embryonic structures that normally give rise to the uterus, cervix and upper vagina. This failure of development results in absence or poor development of the uterus and the upper portion of the vagina. The cause of this failure is still unknown but seems to be genetic.1
A diagnosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests such as specialized imaging techniques.
Treatment may require the coordinated efforts of a team of specialists. Depending upon the affected individual’s age at diagnosis, pediatricians or internists, gynecologists, kidney specialists (nephrologists), endocrinologists, orthopedic surgeons, plastic surgeons, physical therapists, psychiatrists and other health care professionals may need to work together to ensure the best management.
The symptoms of MRKH syndrome vary greatly from one person to another. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.
It is important to note that not all the people with MRKH have all the symptoms discussed below.
Mayer-Rokitansky-Küster-Hauser syndrome type 1
This form of MRKH syndrome is characterized by the failure of the uterus and the vagina to develop properly without anomalies in other organs of the body The ovaries of females with MRKH syndrome are unaffected and function normally. The severity of MRKH syndrome type 1 may vary greatly from one person to another.1
The most common symptoms may include:
Sex steroid levels, female sexual identification and level of sexual desire (libido) are normal. However, because of the absence of the uterus and properly developed fallopian tubes, all affected females are unable to bear children (infertile).1
Mayer-Rokitansky-Küster-Hauser syndrome type 2
When the abnormalities that characterize MRKH syndrome type 1 occur in association with additional physical findings, the disorder is classified as MRKH syndrome type 2 or (Mu)llerian duct aplasia, (R)enal dysplasia and (C)ervical (S)omite anomalies or MURCS association.1 The most common abnormalities associated with MRKH syndrome type 2 are failure of the kidneys to develop properly (renal dysplasia) and various skeletal malformations, mainly vertebral.1
Kidney problems:
People with MRKH type 2 may have kidney abnormalities such as:
Bone problems:
Many people with MRKH type 2 have abnormalities in their bones including:
Head and face features:
Some people may have distinctive facial features like:
Much less frequently, people may have heart defects and hearing impairment.1
Hearing problems:
Hearing loss can happen in different ways:
In addition, the ears can be abnormally shaped. When hearing loss occurs along with kidney and ear issues, it’s called genital renal ear syndrome (GRES).
Heart problems:
Some people may have heart defects such as:
These four defects reduce oxygen in the blood circulating through the body, leading to symptoms like a bluish tint to the skin (cyanosis).1
Rarely, there are abnormalities of the hands and/or arms such as absence of a portion of one or more fingers or toes (ectrodactyly), webbing of the fingers or toes (syndactyly) and duplicated thumb and absence of the long, thin bone of the forearm (absent radius).
By definition, MRKH syndrome only affects females. However, some researchers have noted that there are males who have absence or underdevelopment of the Wolffian duct, an organ that is present in a developing embryo that eventually evolves into certain structures such as the tube connecting the testes to the urethra (vas deferens).2 Affected males may also have low levels of live sperm in their semen (azoospermia), kidney abnormalities, spinal malformations, hearing impairment and additional physical findings. This condition is sometimes referred to as ARCS (azoospermia, renal anomalies, cervicothoracic spine dysplasia). The relationship, if any, between ARCS and MRKH syndrome remains unsolved. However, rare cases of ARCS and MRKH syndrome in the same family have been reported, making it likely for both syndromes to be of identical genetic origin.2
The exact cause of MRKH syndrome remains largely unknown but ongoing research has begun to provide some clues.
Females with MRKH syndrome are born without a uterus and with a shortened or missing upper vagina due to problems occurring very early in development, around the 8th week of pregnancy, when the baby’s reproductive organs are forming. The part of the embryo called the Müllerian ducts, which normally form the uterus and other parts of the female reproductive system, does not grow properly. It is important to note that MRKH syndrome is not caused by anything the mother did. The developmental problems leading to MRKH syndrome are due to a mix of genetics and other unknown factors (multifactorial cause).1
It is thought that several genes important for the formation of reproductive organs might contribute to the condition, and the involvement of several genes may explain why MRKH syndrome can look very different from one person to another.2 In most people, no single gene change (variant) is identified, but scientists have identified a number of genes that, when altered, can disrupt the formation of the uterus and vagina including the following:1-3
Other genes (such as LHX1, HNF1B, WNT4 and others) have also been studied for their roles in Müllerian duct development.4
MRKH syndrome type 1 is sometimes referred to as Mullerian aplasia because the Mullerian ducts are a dual structure within a growing embryo that ultimately develops into the uterus, Fallopian tubes, cervix and the upper portion of the vagina. As commented before, it is believed that improper development of tissues derived from the Mullerian ducts occurring during embryogenesis ultimately causes the signs and symptoms of MRKH syndrome.1 MRKH syndrome type 2 (syndromic) is characterized by MRKH syndrome symptoms occurring along with anomalies in other organs that develop around the same time in the embryo and can be affected by the same genetic changes. Some doctors believe that MRKH syndrome type 2 can be part of a broader developmental syndrome rather than a single standalone condition.2
MRKH syndrome is usually sporadic, meaning it occurs in individuals with no family history of the condition. In most people, no other relatives are affected. However, rare familial cases of MRKH syndrome have been reported.3 In familial cases, the inheritance pattern seems to be autosomal dominant with incomplete penetrance and variable expressivity.1 When both MRKH syndrome and kidney issues appear in the same family, this pattern becomes especially noticeable.
Dominant genetic disorders occur when only a single copy of a disease-causing gene variant is necessary to cause the disease. The gene variant can be inherited from either parent or can be the result of a new (de novo) changed gene in the affected individual that is not inherited. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.
Incomplete penetrance means that some individuals who inherit the gene variant responsible for the disorder will not be affected. Variable expressivity means that people with the disorder can have widely varying signs and symptoms.1
MRKH syndrome is estimated to affect 1 in 5,000 females in the general population but it is thought to be underdiagnosed.1 It is the second most common cause of primary amenorrhea. The disorder is present at birth (congenital) but is often not diagnosed until early adolescence.
Most females with MRKH syndrome come to the attention of physicians due to the failure of menstrual cycles to begin during puberty (primary amenorrhea). Some may seek medical attention due to fertility problems.1 In rare cases, multiple congenital malformations and/or symptoms caused by renal abnormalities may lead to a possible diagnosis of MRKH syndrome type 2.3
A diagnosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests such as specialized imaging techniques. Transabdominal ultrasound is the first type of imaging used, and it may be complemented by magnetic resonance imaging (MRI). An ultrasound is a simple, noninvasive procedure that lacks radiation and records echoes of high-frequency sound waves to produce a detailed image of deep structures within the body. An ultrasound can depict the uterus and vagina, and it can also be used to evaluate kidneys. An MRI uses a magnetic field and radio waves to produce cross-sectional images of organs and bodily tissues.1 It is also noninvasive and is generally more sensitive than an ultrasound. In addition to evaluating the uterus and vagina, an MRI can simultaneously be used to evaluate the kidneys and skeleton.1
Karyotyping may be performed to rule out other conditions. Karyotyping is a test done on blood or saliva that examines the chromosomes in a sample of cells. Females with MRKH syndrome have a normal 46,XX karyotype.1
Once MRKH syndrome is diagnosed, a full check-up is done to look for associated malformations. Since renal and skeletal abnormalities may not be symptomatic, it is necessary to perform at least a transabdominal ultrasound and spinal X-rays.3 If there is suspicion of hearing impairment and/or a heart defect, an audiogram and/or heart echography can also be done.3
In females diagnosed for MRKH syndrome, levels of FSH (plasmatic follicle stimulating hormone), LH (luteinizing hormone) and 17ß-oestradiol are normal because the ovarian function is normal. Levels of testosterone in the blood are also normal (there is no hyperandrogenism). Hyperandrogenism is the term for excessive secretion of male sex hormones (androgens) and is caused by a variety of ovarian and adrenal diseases.2
Treatment
The treatment of MRKH syndrome is directed toward the specific symptoms that are apparent in each affected person. Treatment may require the coordinated efforts of a team of specialists. Depending upon the affected individual’s age at diagnosis, pediatricians or internists, gynecologists, kidney specialists (nephrologists), endocrinologists, orthopedic surgeons, plastic surgeons, physical therapists, psychiatrists and other health care professionals may need to work together to ensure the best care.
People with MRKH syndrome are encouraged to seek counseling after a diagnosis and before treatment because the diagnosis can cause anxiety and extreme psychological distress. Psychological support and counseling both professionally and through support groups is recommended for affected females and their families.3
Treatment will usually include appropriate management of the physical findings associated with MRKH syndrome and psychological support for the emotional issues that often accompany the diagnosis.
The treatment of vaginal aplasia consists of creating a neovagina for sexual intercourse. This should be discussed when the person is emotionally mature and ready to start sexual activity.1 Treatment may be either nonsurgical or surgical. Nonsurgical techniques are considered the first-line approach. Vaginal dilators are specially designed plastic tubes used to help enlarge or create a vagina. The most common method is known as Franck’s dilator method.2 With this method, a physician (and then the affected person herself) applies a vaginal dilator, which progressively stretches and widens the vagina.2 This daily procedure may be continued for up to six weeks to several months.
Plastic surgery may be necessary to create an artificial vagina (vaginoplasty). There are a variety of different surgical techniques that may be used and there is no consensus as to which technique is best. Females who have surgery to create an artificial vagina will most likely need to use vaginal dilators after the surgery to enhance the chance of success.
Because females with MRKH syndrome do not have a functional uterus, they cannot bear children (they are infertile). As reproductive technologies evolve, it may be possible for some females with MRKH syndrome to become pregnant and give birth.1 Some affected females have been able to have a child by using in vitro fertilization of their own eggs and surrogate pregnancy.6 However, because MRKH syndrome appears to be of genetic origin, there may be some risk of passing the condition to children so this should be discussed with physicians and genetic counselors.3
People with MRKH syndrome who have an absence of one kidney (unilateral renal agenesis) may have an increased risk for urinary tract infections and/or kidney stones (renal calculi). Physicians should carefully monitor affected females for infection and prescribe antibiotics as necessary.2
Skeletal abnormalities may require reconstructive surgery, physical therapy and/or other medical management depending upon the specifics and severity of the bone deformities.2
Uterine transplantation is in the early stages of becoming a possible option for a female with MRKH syndrome to have a child and it is typically offered through a clinical trial.5 Many females are interested in uterine transplantation because it gives them the possibility of having their own biological child. The number of people having the procedure is increasing. Since 2023, there have been more than 50 uterus transplants performed worldwide, and thirteen healthy children have been born.5 Uterine transplant surgery is done after vaginal reconstruction. There are several possible complications including infections, blood clots (thrombosis), blood collecting outside blood vessels (hematoma), urinary tract complications and organ rejection.6
Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
https://www.centerwatch.com/
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
1. Herlin MK, Petersen MB, Brännström M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis. 2020;15(1):214. Published 2020 Aug 20. doi:10.1186/s13023-020-01491-9
2. Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllériennes, Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet J Rare Dis. 2007;2:13. Published 2007 Mar 14. doi:10.1186/1750-1172-2-13
3. Herlin MK. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications. Frontiers in Endocrinology. 2024;15:1368990. doi:10.3389/fendo.2024.1368990.frontiersin.org
4. Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Clin Genet. 2017;91(2):233-246. doi:10.1111/cge.12883
5. Sousa C, Carton I, Jaillard S, et al. Mayer-Rokitansky-Küster-Hauser syndrome patients’ interest, expectations and demands concerning uterus transplantation. J Gynecol Obstet Hum Reprod. 2023;52(10):102674. doi:10.1016/j.jogoh.2023.102674
6. Georgopapadakos N, Manoli A, Passia G, Skandalakis PN, Filippou D. Uterus Transplantation as a Therapy Method in Mayer-Rokitansky-Küster-Hauser Syndrome. Cureus. 2019;11(12):e6333. Published 2019 Dec 9. doi:10.7759/cureus.6333
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