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Mayer-Rokitansky-Küster-Hauser Syndrome

NORD is very grateful to Dr. Karine Morcel, Obstetric-Gynecology and Reproductive Medicine Department, Rennes University Hospital and Dr. Daniel Guerrier, Institute for Genetics and Development of Rennes, France, for assistance in the preparation of this report.

Synonyms of Mayer-Rokitansky-Küster-Hauser Syndrome

  • congenital absence of the uterus and vagina (CAUV)
  • genital renal ear syndrome (GRES)
  • MRKH
  • MRKH syndrome
  • Mullerian agenesis
  • Mullerian aplasia
  • Rokitansky syndrome

Disorder Subdivisions

  • isolated Mullerian aplasia
  • Mayer-Rokitansky-Kuster-Hauser syndrome type I
  • Mayer-Rokitansky-Kuster-Hauser syndrome type II
  • MUllerian duct aplasia-Renal dysplasia-Cervical Somite anomalies Assoc.
  • MURCS association
  • Rokitansky sequence

General Discussion

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder that affects women. It is characterized by the failure of the uterus and the vagina to develop properly in women who have normal ovarian function and normal external genitalia. Women with this disorder develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), but do not have a menstrual cycle (primary amenorrhea). Often, the failure to begin the menstrual cycle is the initial clinical sign of MRKH syndrome. The range and severity of MRKH syndrome can vary greatly and the disorder is generally broken down into type I, which occurs as an isolated finding, and type II, which occurs with abnormalities of additional organ systems including mainly the kidneys and the skeleton. Because of the nature of the disorder, MRKH syndrome can cause significant psychological challenges and counseling is recommended. The exact cause of MRKH syndrome remains largely unknown, but there is now no doubt of a genetic origin. In this respect, an update on the most recent research publications shows the involvement of several chromosomal segments, some of them including genes likely to account for the disorder.

Symptoms

The symptoms of MRKH syndrome vary greatly from one woman to another. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.

MAYER-ROKITANSKY KÜSTER-HAUSER SYNDROME TYPE I
This form of MRKH syndrome is also known as isolated Mullerian aplasia, or Rokitansky sequence. The disorder is characterized by the failure of the uterus and the vagina to develop properly. The severity of MRKH syndrome type I may vary greatly from one person to another. In most cases, the uterus and/or the vagina have not developed (aplasia); in other rare cases, there may be narrowing (atresia) of the upper portion of the vagina and an underdeveloped or rudimentary uterus. In some cases, the Fallopian tubes may be affected as well. The ovaries of females with MRKH syndrome are unaffected and function normally.

In most cases, the initial symptom of MRKH syndrome type I is the failure to begin menstrual cycles (primary amenorrhea). Despite amenorrhea, affected females do experience normal secondary sexual development including breast development, the growth of hair under the arms and in the pubic area, and an increase in body fat around the hips and other areas. Sex steroid levels, female sexual identification, and level of sexual desire (libido) are all also normal. However, because of the absence of the uterus and properly developed fallopian tubes, all affected women are unable to bear children (infertile). Many affected females also experience difficulty while attempting sexual intercourse due to the shortness of the vagina. Some women may also experience pain during intercourse.

MRKH syndrome type I 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. It is believed that improper development of tissues derived from the Mullerian ducts occurring during embryogenesis, ultimately causes the symptoms of MRKH syndrome.

MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME TYPE II
When the abnormalities that characterize MRKH syndrome type I occur in association with additional physical findings, the disorder is classified as MRKH syndrome type II or (Mu)llerian duct aplasia, (R)enal dysplasia and (C)ervical (S)omite anomalies or MURCS association. The most common abnormalities associated with MRKH syndrome type II are failure of the kidneys to development properly (renal adysplasia) and various skeletal malformations, mainly vertebral. Much less frequent defects include heart malformations and hearing impairment.

Women with MRKH syndrome type II may exhibit absence of a kidney (unilateral renal agenesis), malformation of one or the two kidneys (renal dysplasia), underdeveloped (hypoplastic) kidneys and/or improper positioning within the body of one or both kidneys (renal ectopia). Renal abnormalities can cause growth deficiency, kidney stones, an increased susceptibility to urinary tract infections and abnormal accumulation of urine in the kidney due to obstruction (hydronephrosis).

Many females with MRKH syndrome type II also exhibit skeletal malformations. For example, bones (vertebrae) in the spinal column within the neck (cervical vertebrae) and the upper back (thoracic vertebrae) may develop improperly (dysplasia). As a result, some of the vertebrae within the neck may be missing and/or fused, causing shortness of the neck, limited neck motion, and an abnormally low hairline (Klippel-Feil syndrome). In addition, affected females may exhibit asymmetric, fused or wedge vertebrae; malformed or missing ribs; abnormal sideways curvature of the spine (scoliosis); elevation of the shoulder blade (scapula), due to the scapula's failure to move into the appropriate position during fetal development (Sprengel deformity). (For more information on Klippel-Feil syndrome and Sprengel deformity, please see the Related Disorders section of this report.). Abnormalities of the head and face may also occur including an abnormally small jaw (micrognathia), cleft lip, cleft palate and underdevelopment of one side of the face causing facial asymmetry.

Some affected women develop hearing loss due to the failure of sound waves to be conducted through the middle ear (conductive hearing loss), usually due to structural abnormalities of the middle ear. Hearing loss may also be due to impaired ability of the auditory nerve to transmit sensory input to the brain (sensorineural hearing loss). The degree of hearing impairment may vary. The ears may be malformed (dysplastic) in some cases. When the ears are involved the disorder may be referred to as genital renal ear syndrome (GRES)

In rare cases, some females with MRKH syndrome type II have had additional physical abnormalities including abnormalities of the hands and/or arms and heart malformations. Abnormalities of the extremities 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 malformations may include "a hole in the heart" between the two upper chambers of the heart (atrial septal defects), narrowing of the pulmonary valve (pulmonary valvular stenosis) or tetralogy of Fallot, a rare grouping of four different heart defects.

Causes

The exact cause of MRKH syndrome remains largely unknown but ongoing research has begun to provide some clues to its mechanism. Initially, MRKH syndrome was thought to occur randomly (sporadically) due to the involvement of non-genetic or environmental factors such as gestational diabetes or exposure to a teratogen, which is an agent that can disrupt the development of an embryo. No link between an environmental cause and MRKH syndrome has ever been established.

In recent years, increasing evidence suggests that MRKH syndrome is a genetic disorder. Some researchers have proposed that, in familial cases, the disorder is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. Increasing case studies have now reinforced this idea.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Incomplete penetrance means that some individuals who inherit the gene for a dominant disorder will not be affected by the disorder. Variable expressivity a dominant disorder can have widely varying signs and symptoms among affected individuals.

Polygenic multifactorial inheritance has also been proposed as a cause of MRKH syndrome. Polygenic multifactorial inheritance refers to the interaction of many genes (polygenic) in the development of a disorder with each gene having a small effect on the overall development of the disorder.

Research is ongoing to determine the exact underlying causes of MRKH syndrome including identifying the gene or gene(s) involved in the development of the disorder and whether environmental factors play a role. It is now clear that different genes can each account for the disease, when they are mutated or involved in a chromosome segmental anomaly (deletion or duplication). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 1q21.1" refers to band 21.1 on the long arm of chromosome 1. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

To date, seven deletions and one duplication of chromosomal segments have been identified in several persons affected by MRKH syndrome. These anomalies have been found independently in different persons (i.e., one and only one of these chromosomal anomalies per person). These anomalies are of varying length and can contain one gene or many different genes. This has allowed researchers to hypothesize the involvement of certain genes, which are called candidate genes. These researchers are currently working on the characterization of these candidate genes to determine precisely their responsibility in the development of MRKH syndrome.

At the present time, the seven segmental deletions likely to be involved in MRKH syndrome have been identified in chromosomes 1 (1q21.1), 4 (4q34-qter), 8 (8p23.1), 10 (10p14-15), 16 (16p11.2), 17 (17q12) and 22 (22q11.21), and the duplication was found on the chromosome X (Xpter-p22.32). This has led researchers to define several candidate genes: TCF2, LHX1, TBX1, ITIH5 and SHOX, which are currently under investigation.

These new data demonstrate the genetic origin of the MRKH syndrome. They also show that several different genes defects can cause the syndrome. In this case, the disease can be considered as of multigenic origin, meaning that different genes can independently be responsible for the syndrome.

Affected Populations

MRKH syndrome is estimated to affect 1 in 4,000-5,000 women in the general population. It is the second most common cause of primary amenorrhea. The disorder is thought to be underdiagnosed making it difficult to determine the true frequency of MRKH syndrome in the general population. The disorder is present at birth (congenital) but is often not identified until early adolescence.

By definition, MRKH syndrome only affects females. However, some researchers have noted similar symptoms in males. Affected males have exhibited 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). 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 in the same family have been reported, making both syndromes likely to be of identical genetic origin.

Related Disorders

Symptoms of the following disorders can be similar to those of MRKH syndrome. Comparisons may be useful for a differential diagnosis.

WTN4 syndrome is a rare genetic disorder that affects females. It is characterized by the absence of the uterus and abnormally high levels of androgens. Androgens are male sex hormones that control the development of male sexual characteristics. Consequently, females with WTN4 syndrome may develop acne and a male pattern of hair growth in females (hirsutism), which can include hair growth on the face or chest. In some cases, the vagina may be abnormally short or small. In the particular case of WNT4 syndrome, it seems that the ovaries undergo partial musculinization during embryonic development and then produce both male and female sex hormones. This is why, despite the signs of hirsutism, females with WTN4 syndrome develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), but do not have a menstrual cycle (primary amenorrhea). In rare cases, one kidney may fail to develop properly (unilateral renal aplasia). WTN4 syndrome is extremely similar to MRKH syndrome and is sometimes referred to as MRKH-like syndrome. WTN4 syndrome is caused by mutations of the WTN4 gene. (For more research on this disorder, choose "WTN4" as your search term in the Rare Disease Database.)

Complete androgen insensitivity syndrome is a rare disorder in which individuals who are genetically male (46, XY), but do not respond to male sex hormones known as androgens. The disorder is characterized by the failure of a developing fetus to respond to the presence of androgens in the fetal bloodstream. Consequently, infants appear female at birth, but are genetically male and lack a uterus, Fallopian tubes and ovaries. A vagina may be absent or may present, although is usually abnormally short or small. The initial clinical sign of complete androgen insensitivity syndrome may be the failure to start menstruation. Breast development, however, may occur normally. Pubic and underarm hair growth is sparse or absent. Complete androgen insensitivity syndrome is caused by mutations of the androgen receptor gene and is inherited as an X-linked recessive trait.

In extremely rare cases, vaginal agenesis or atresia can occur as an isolated development defect that is not associated with additional physical findings. More commonly, vaginal agenesis or atresia occurs as part of a larger syndrome including MRKH syndrome, Winter syndrome, McKusick-Kaufman syndrome and Fraser syndrome. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

There are a variety of disorders that have signs and symptoms with multiple abnormalities, some of which are similar to those encountered in type II MRKH syndrome. These disorders include Goldenhar syndrome, VACTERL association, and Turner's syndrome. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

The following disorders may be associated with MRKH syndrome type II as secondary characteristics. They are not necessary for a differential diagnosis:

Klippel-Feil syndrome (KFS) is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline). The disorder is present at birth (congenital), but mild cases may go undiagnosed until later during life when symptoms worsen or first become apparent. In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities. These may include abnormal curvature of the spine (scoliosis) and/or vertebral instability, spina bifida occulta, raised scapula (Sprengel deformity), absent rib(s) and other rib defects including cervical ribs, other skeletal abnormalities including skeletal malformations of the ear, nose, mouth and larynx including hearing impairment and cleft palate, malformations of the head and facial (craniofacial) area; anomalies of the urinary tract and/or kidney including absent or horse-shoe kidney; or structural abnormalities of the heart (congenital heart defects), mirror movements, webbing of the digits and digital hypoplasia. In addition, in some cases, neurological complications may result due to associated spinal cord injury. KFS may occur as an isolated abnormality or in association with certain syndromes. In many individuals with KFS, the condition appears to occur randomly for unknown reasons (sporadically). In other cases, KFS may be inherited as an autosomal dominant or autosomal recessive trait. Researchers have determined that some cases of KFS are associated with mutations of the GDF6 gene on chromosome 8. (For more information on this disorder, choose "Klippel-Feil" as your search term in the Rare Disease Database.)

Sprengel deformity is a rare birth defect characterized by elevation and/or underdevelopment of the shoulder blade (scapula), limited movement of the arm on the affected side, and the development of a lump at the base of the neck due to the scapular elevation. In most cases, affected individuals also exhibit additional abnormalities, such as underdevelopment (hypoplasia) of shoulder muscles, a sideways curvature of the spine (scoliosis), fused vertebrae, underdevelopment of one side of vertebrae (hemivertebrae), missing and/or fused ribs, and/or incomplete closure of bones in the spinal column surrounding the spinal cord (spina bifida occulta). In most cases, Sprengel deformity appears to occur randomly, with no apparent cause (sporadic). However, in rare cases, the disorder may be inherited as an autosomal dominant genetic trait. (For more information on this disorder, choose "Sprengel deformity" as your search term in the Rare Disease Database.)

Among the chromosomal segments found affected in MRKH syndrome, some have already been described in association with another genetic syndrome called DiGeorge syndrome. This syndrome generally presents with very severe anomalies in affected persons. These anomalies include congenital heart defects that require surgery, such as tetralogy of Fallot, interrupted aortic arch, or ventricular septal defect. Other main features are facial dysmorphy, cleft palate, hearing loss, underdevelopment of the thymus (thymic hypoplasia) causing abnormalities of the immune system, underactivity of the parathyroid glands (hypoparathyroïdism), and developmental and behavioral problems. Other less common manifestations, which overlap with MRKH syndrome, include renal (horseshoe, hydronephrosis), vertebral (butterfly vertebrae, hemivertebrae, abnormalities of the cervical spine, scoliosis, Sprengel deformity) and extremity anomalies (polydactyly, syndactyly, club-foot). Ninety percent of cases of DiGeorge syndrome are caused by a segmental deletion in chromosome 22. However, the manifestations of DiGeorge syndrome are also but less frequently observed in persons presenting with deletions in chromosome 4, 8, 10, 17 or 18, with chromosomes 4 and 10 being the most frequently affected. It has recently been found that some persons affected by MRKH syndrome, presented with chromosomal segmental deletions, mainly in chromosome 22, but also in chromosome 4, 8, 10 and 17. (For more information on this disorder, choose "DiGeorge" as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
In most cases, 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. In rare cases, multiple congenital malformations and/or symptoms caused by renal abnormalities may lead to a possible diagnosis of MRKH syndrome type II.

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 ultrasonography must be the first investigation. It may be complemented by magnetic resonance imaging (MRI). An ultrasound 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. It can also be used to evaluate the kidneys. An ultrasound is a simple, noninvasive procedure that lacks radiation. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. 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 kidney and skeleton.

Karyotyping may be performed to rule out other conditions. Karyotyping is used to examine the chromosomes in a sample of cells. Females with MRKH syndrome have a normal 46, XX karyotype.

Establishing an accurate diagnosis of MRKH syndrome also requires the search for other eventually associated malformations, and will also include some biological tests necessary for the differential diagnosis. Once MRKH syndrome is diagnosed, a full check-up must be undertaken to search for associated malformations. Since renal and skeletal abnormalities may not be symptomatic, it is necessary to perform at least a transabdominal ultrasonography and spinal radiography. In case of suspicion of hearing impairment and/or a cardiac anomaly, complementary audiogram and/or heart echography must also be carried out.

In women diagnosed for MRKH syndrome, levels of FSH (plasmatic follicle stimulating hormone), LH (luteinizing hormone) and 17ß-oestradiol are normal, proving the integrity of ovarian function. There is no biological hyperandrogenism, as shown by a normal plasmatic level of testosterone. Hyperandrogenism is the term for the excessive secretion of male sex hormones (androgens) and is caused by a variety of ovarian and adrenal diseases.

Treatment
The treatment of MRKH syndrome is directed toward the specific symptoms that are apparent in each individual. 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), endocrinologist, orthopedic surgeons, plastic surgeons, physical therapists, psychiatrists and other health care professionals may need to work together to ensure a comprehensive approach to treatment.

Women 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.

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 proposed to the women when they are emotionally mature and ready to start sexual activity. Treatment may be either nonsurgical or surgical. Nonsurgical techniques are considered the first-line approach. Vaginal dilators are specially designed plastic tubes that are used to help enlarge or create a vagina. The most common method is known as Franck's dilator method. With this method, a physician (and then woman herself) applies a vaginal dilator, which progressively stretches and widens the vagina. 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 undergo 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 (infertile). However, some affected women have been able to have a child by using in vitro fertilization of their own eggs and surrogate pregnancy. However, because MRKH syndrome appears to be of genetic origin, the risk of passing on the disease to children exists and any decision to conceive should therefore be undertaken after careful consultation with their physicians and appropriate medical personnel.

Females with MRKH syndrome who exhibit absence of one kidney (unilateral renal agenesis) may have an increased susceptibility to urinary tract infections and/or kidney stones (renal calculi). Physicians should carefully monitor affected females for infection and prescribe antibiotics as necessary. Skeletal abnormalities may also require reconstructive surgery, physical therapy, and/or other medical management depending upon the specifics and severity of the bone deformities.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.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:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Mayer-Rokitansky-Küster-Hauser Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., kidney abnormalities].)

References

TEXTBOOKS
Shakir S, Warady BA. MURCS Association. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:695.

JOURNAL ARTICLES
Acien P, Galan F, Manchon I, et al. Hereditary renal adysplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report. Orphanet J Rare Dis. 2010;14:5:6.

Bean EJ, Mazur T, Robinson AD. Mayer-Rokitansky-Küster-Hauser syndrome: sexuality, psychological effects and quality of life. J Pediatr Adolesc Gynecol. 2009;22:339-346.

Biason-Lauber A, De Filippo G, Konrad D, et al. WNT4 deficiency - a clinical phenotype distinct from the classic Mayer-Rokitansky-Küster-Hauser syndrome: a case report. Hum Reprod. 2007;22:224-229.

Braun-Quentin C, Billes C, Bowing B, Kotzot D. MURCS association: case report and review. J Med Genet. 1996;33:618-620.

Govindarajan M, Rajan RS, Kalyanpur A, Ravikumar. Magnetic resonance imaging diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome. J Hum Reproduc Sci. 2008;1:83-85.

Heller-Boersma JG, Schmidt UH, Edmonds DK. Psychological distress in women with uterovaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome, MRKH). Psychosomatics. 2009;50:277-281.

Morcel K, Guerrier D, Watrin T, Pellerin I, Leveque J. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics. J Gynecol Obstet Biol Reprod (Paris). 2008;37:539-536.

Morcel K, Watrin T, Pasquier L, Rochard L, Le Caignec C, Dubourg C, Loget P, Paniel B-J, Odent S, David V, Pellerin I, Bendavid C, Guerrier D. Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci. Orphanet J Rare Dis. 2011; Mar 15;6(1):9.

Morcel K, Dallapiccola B, Pasquier L, Watrin T, Bernardini L, Guerrier D. Mayer-Rokitansky-Küster-Hauser syndrome. Eur J Hum Genet 2011, in press.

Raybaud C, Richard O, Arzim M, David M. Mayer-Rokitansky-Küster-Hauser syndrome: associated pathologies. Arch Pediatr. 2001;8:1209-1213.

Strubbe EH, Cremers CW, Willemsen WN, Rolland R, Thijn CJ. The Mayer-Rokitansky-Küster-Hauser syndrome without and with associated features: two separate entities? Clin Dysmorphol. 1994;3:192-199.

Strubbe EH, Willemsen WN, Lemmens JA, Thijn CJ, Rolland R. Mayer-Rokitansky-Küster-Hauser syndrome: distinction between two forms based on excretory urographic, sonographic, and laparoscopic findings. AJR Am J Roentgenol. 1993;160:331-334.

Sultan C, Biason-Lauber A, Philibert P. Mayer-Rokitansky-Küster-Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol. 2009;25:8-11.

FROM THE INTERNET
Kirsch AJ, Kaye JD, Carter SM, Gross SJ. Mayer-Rokitansky Syndrome. Emedicine Journal, March 9, 2009. Available at: http://emedicine.medscape.com/article/953492-overview Accessed January 4, 2011.

Morcel K, Camborieux L, Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet encyclopedia, March 2007. Available at: http://www.ojrd.com/content/2/1/13 Accessed January 4, 2011.

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:277000; Last Update:09/01/2010. Available at: http://www.ncbi.nlm.nih.gov/omim/277000 Accessed January 4, 2011.

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:601076; Last Update:09/16/2010. Available at: http://www.ncbi.nlm.nih.gov/omim/601076 Accessed January 4, 2011.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2011/06/10 00:00:00 GMT+0

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