Mayer-Rokintansky-Kuester-Hauser Syndrome (MRKH)

December 2, 2008

Mayer-Rokintansky-Kuester-Hauser Syndrome:

A Review of Research and Literature

Jane Berkeley©, Smith College

December 16, 2005

Abstract

Mayer-Rokintansky-Kuester-Hauser (MRKH) syndrome is a female reproductive birth defect.  It occurs in as many as one in 4000 live female births and is typically diagnosed during puberty.  MRKH syndrome is characterized by vaginal agenesis and malformations or absence of the uterus due to mullerian dysgenesis during fetal development.  The condition is also associated with various anomalies affecting other organ groups, such as the renal system.  The syndrome is categorized into three subtypes based on the severity of associated anomalies.  The molecular basis remains unknown, although theories suggest genetic and environmental factors.

Introduction

A birth defect is generally defined as an abnormality of structure, function, or body chemistry that is present at birth. According to the Centers for Disease Control and Prevention, one in every 33 babies born in America are affected by birth defects each year and will face a greater probability of long term disability and illness. While several thousand different birth defects have been identified, 60 to 70 percent are from causes unknown. When an individual is born with a structural birth defect, an internal or external part of their body is either absent or did not develop normally.  Structural abnormalities of the genitals and urinary tract are among the most common birth defects in the U.S., affecting one in every 135 babies. Structural defects under this category range in severity.  Examples include absence of both kidneys, abnormal placement of the urinary opening in males, and mullerian anomalies such as MRKH, which impact development of the female reproductive system.

Mullerian Anomalies

Mullerian anomalies affect roughly 1 to 5 percent of the female population. The American Society for Reproductive Medicine describes birth defects of the vagina and uterus as mullerian anomalies. The mullerian duct system begins to develop when the female fetus is about six weeks old.  The two bilateral mullerian ducts play an essential role in the formation of the internal female organs.  At eight weeks, the lower portion of the mullerian ducts fuse.  The uterus, cervix, and upper vagina are formed during the following four-week period.  The upper portion of the two mullerian ducts remains separate and allows for the development of the fallopian tubes.

There are three types of mullerian anomalies, including mullerian dysgenesis, otherwise known as MRKH syndrome.  The other two types of mullerian anomalies are disorders of descent and disorders of fusion.  An imperforate hymen is the most common disorder of descent and can usually be treated by removing the membrane.  There are several types of disorders of fusion.  Roughly three percent of the general female population has a septate uterus, or a central ridge of tissue protruding into the uterine cavity. Other disorders of fusion include complete double uterus, or a didelphic uterus, as well as a double cervix and double vagina.

MRKH syndrome, or mullerian dysgenesis, results from a defect in the development of the lower portion of the mullerian ducts that occurs when the fetus is about 12-14 weeks old.  Normal female genitalia are present, but the uterus, cervix, and upper portion of the internal vagina are either absent or not fully developed. The defect in the mullerian ducts does not affect the ovaries or external genitalia.  The ovaries develop from the primitive ectoderm and migrate to the pelvis as the fetus grows.  The lower portion of the internal vagina originates from ectodermal cells, forming a shallow vaginal pouch in the perineum.

History

Prior to 1961, the term ìrudimentary solid septate uterus with solid vaginaî was used to describe malformations resulting from mullerian dysgenesis.  Gynecologist Dr. Hauser replaced this term with the name Mayer-Rokintansky-Kuester syndrome, which later became known as Mayer-Rokintansky-Kuester-Hauser syndrome, or MRKH syndrome. The anomaly was originally described in 1829 by Mayer and by Rokintansky in 1838 as a condition characterized by agenesis of the vagina and uterus resulting from atypical development of the uterine ducts.  By 1910, Kuesteróalso spelled K¸steró observed urological associations.  Hauser differentiated the condition from testicular feminization in 1961.

Women with MRKH syndrome experience a variety of possible medical concerns associated with mullerian dysgenesis.  However, diagnosis of MRKH often focuses predominately on sexual and reproductive functions by emphasizing the patientís inability to conceive children and insufficient vaginal depth.  Literature on MRKH includes various phrases and descriptors of the vagina in this syndrome, including blind, shallow, short, solid, or absent vagina, as well as a vaginal dimple.  References to vaginal agenesis and suggested treatments can be found as early as the Greek and Roman eras, as well as in ìThe Nature of Womenî by Hippocrates. Research findings since the mid-20th century indicate that the MRKH is not merely a birth defect, but a syndrome as well.  A syndrome is defined as a group of signs and symptoms that occur together and characterize a particular disease or abnormality. Women diagnosed with MRKH often experience other medical conditions that have come to be associated with MRKH.  The prevalence of co-occurrence with these associated anomalies is statistically significant, demonstrating that MRKH is a complex syndrome.

Being a Female with MRKH

Women with MKRH are no less female than other women.  Both share the experience of physical and hormonal changes during puberty and the expression of female secondary sexual characteristics.  According to Oppelt, et al (2005), a patient with MRKH has the normal female karotype (46,XX).  With ovarian function intact, she achieves correctly timed normal thelarche and pubarche and normal hormonal secretion. While every woman in the general population is unique, MKRH patients experience significant aspects of womanhood differently.  The three most salient issues are vaginal depth, pregnancy, and the menstrual period.

If an individual has MRKH, she has a condition known as primary amenorrhea, which means she does not have a period.  She still goes through the same hormonal changes that occur during the menstrual cycle, including ovulation.  Without a functional uterus, her menstrual cycle does not include the typical buildup and shedding of uterine lining required for the menstrual blood flow that occurs during a womanís period.  In addition to never having a period, women with MRKH can not get pregnant because of their uterine malformation.  While it is not possible to physically conceive a child, women with MRKH can still become mothers through adoption and reproductive technology.  If a woman with MRKH wants to be biologically related to her baby, she may attempt in vitro fertilization (IVF) through surrogacy.

Compared to most women, a person with MRKH has a very small vagina, which may be referred to as a vaginal dimple.  Vaginal depth ranges among patients with MKRH.  Research and literature on MRKH cite different estimates.  According to the American Society for Reproductive Medicine, the depth of the vagina is between one and a half inches to a quarter of an inch deep. In a study measuring the size of the vaginal dimple in 14 pre-operative patients, the recorded range of depth was between 0.8 and 4 centimeters and the median depth was slightly less than 2 centimeters. Vaginal depth can be increased through natural or surgical methods, with choice of treatment depending on factors such as existing vaginal depth, age, and emotional maturity.

Etiology

Currently there are no known causes for MRKH syndrome and the molecular basis remains unknown.  Continuing investigations appear to point toward a multi-factorial form of inheritance including genetic and environmental factors. Some theories suggest that potential sources for this birth defect stem from activating mutations in the Mullerian inhibiting substance (MIS), anti-Mullerian hormone (AMH), or AMH receptor (AMHRII), leading to the regression of the mullerian ducts and outcome of mullerian dysgenesis. In a study examining the molecular analysis of the AMH and AMHR genes in 15 subjects with MRKH, researchers were unable to detect deleterious mutations.  These results do not support molecular defects in AMH and AMHR as contributors to the etiology of MRKH. In a recent molecular investigation, Oppelt et al. (2004) came to a similar conclusion.  The study did not identify deletions or polymorphisms in the promoter region.  Oppelt et al. (2004) concluded that overexpression of MIS was not present, as indicated by measurements of MIS in MRKH subjects that did not demonstrate elevated serum concentrations.  Other studies were also unable to detect gene variations for MIS, MIS-Receptor, or Wilmís tumors.

Most theories speculate that a genetic component is involved in the etiological process responsible for the occurrence of MRKH syndrome.  While the syndrome generally appears to occur sporadically, the incidence of sibling and familial cases of MRKH syndrome have been documented.  This occurrence ñwhile very uncommonñ indicates that a rare autosomal recessive trait was responsible for the syndrome, yet a genetic link is unlikely to be identifiable in all afflicted individuals. While simple inheritance is not considered, a possible polygenic multi-factorial inheritance could account for the 1-2% risk of syndrome recurrence within a family.

MRKH and its various associations involve organ systems that are closely involved during embryogenesis.  A defect in this developmental field could result in the syndrome.  Another postulation for the cause of MRKH is exposure to a teratogenic agent during early fetal development.  Animal studies have identified increased intrauterine exposure to galactose as being teratogenic.  The effects on the offspring of rodents included delayed vaginal opening. Evidence from human studies also indicates galactose as a teratogenic contributor to the cause of MRKH.  Cramer et al. (1996) examined 13 subjects with MRKH, as well as their mothers, for galactose-1-phosphate uridyl transferase (GALT).  Results demonstrated significantly decreased activity of GALT in both the MRKH subjects and their mothers in comparison to 113 control subjects.  The study also found that, compared to controls, MRKH subjects or their mothers were more often carriers for the N314D GALT mutation, which is linked with the Duarte variant of galactosemia.  However, the causative relationship is not yet understood from these results because red cell GALT activity was not measured.

Diagnosis

The prevalence rates for MRKH indicate that the syndrome is not quite as rare as previously estimated.  Incidence rates from studies conducted over a decade ago ranged from one in 5000 to one in 10,000 female births. Other studies suggest that MRKH syndrome affects as many as one in every 4000 to 5000 females. The most recent study states that the occurrence of MRKH is one in every 4000 live female births. However, MRKH is very rarely detected at birth.  The syndrome is usually diagnosed shortly after puberty, as it is the second leading cause of primary amenorrhea. The process of diagnosis is usually initiated when the patient complains that she has not received her first period.  In a recent retrospective study conducted by Pittock, et al (2005), 25 patients who had been diagnosed between 1975 and 2002 were identified.  The average age at diagnosis was 16.75 years, with a range of 13-30 years.  For 82% of the patients, primary amenorrhea was the symptom that caused patients to present to the Mayo Clinic for assessment.

Assessment and Preliminary Diagnosis

The process of diagnosis usually begins after the doctor attempts a pelvic examination, which may include vaginal and rectal exams.  A pelvic exam alone does not cause the doctor to speculate that the patient has MRKH, especially since the majority of physicians are not familiar with the birth defect.  The doctor may give the patient a preliminary diagnosis of an imperforate hymen.  If a patient with MRKH is misdiagnosed with imperforate hymen and her doctor attempts hymenotomy, scarring and obstacles in future treatment can occur. After performing a pelvic exam on the patient, the doctor explains that a proper assessment was not possible and she will most likely receive a transabdominal ultrasound for a more accurate picture of her internal reproductive anatomy.  When the ultrasound is analyzed, the doctor usually makes a preliminary diagnosis of MRKH syndrome. The amount of information the patient receives varies and she may be referred to a specialist.

Confirming Diagnosis of MRKH

While MRKH represents 90 percent of cases involving vaginal agenesis, incomplete development of the vagina also occurs in other reproductive birth defects.  Diagnostic clarification is necessary in the process of confirming MRKH and excluding other reproductive birth defects, such as intersex conditions.  A chromosomal analysis will confirm that the patient is genetically female (46,XX)  Hormonal status of estradiol, LH, and FSH may be evaluated to determine if the ovaries are functioning normally.  If the doctor is thorough, additional examinations will be ordered for more detailed diagnostic information and to clarify possible malformations associated with MRKH.  An MRI of the kidneys and small pelvis should be done because the renal system demonstrates the most frequently occurring malformations in MRKH syndrome. During the final stages of diagnosis, a patient may be informed about the various anomalies associated with MRKH syndrome.  The diagnosis should also specify the patientís MRKH subtype.

Subtypes of MRKH

MRKH Syndrome is also generally classified as typical, atypical, or MURCS, although a precise classification system has not been established.  The most common form of MKRH is the typical classification.  The patient with typical MRKH appears to have no additional malformations.  In the atypical subtype, there may be associated malformations of the ovaries or renal system.  The term MURCS was proposed by Duncan et al. (1979) after documenting a severe subtype of MRKH associated with additional malformations affecting the renal and skeletal systems.  Duncan derived the term MURCS from the general clinical classifications of mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia.

Psychological Aspects of Diagnosis

Diagnosis of MRKH can take a severe psychological toll, especially since the syndrome involves such sensitive issues.  The patient, as well as her family, may find it difficult to accept that she will not be able to conceive children and that her vagina is different.  Since MRKH is often diagnosed during adolescence, the psychological development and identity of the patient can be significantly impaired from receiving this type of information about her body.  She might wonder why this has happened and her parents might blame themselves, thinking they are some how responsible for their daughterís birth defect.

One of the diagnostic concerns is the potential for iatrogenically induced trauma, triggered by a negative level of discussion between the patient and her physician.  Inappropriate and insensitive comments made by the doctor during diagnosis may have a deeply psychological scarring effect requiring intensive therapy.  It is recommended that the doctor tell the patient that she was born with an incompletely developed vagina instead of using the phrase ìborn without a vagina.î  The doctor should reassure the patient that a more ìfunctionalî vagina is possible, without using the term ìartificial vagina.î  It is also important that the physician emphasizes the patientís normal physiology by remarking upon the normal, feminine development of the patientís breasts, vulva, clitoris, ovaries, and pubic hair.  She should also be made aware of her capability to experience orgasm.  In addition to facilitating a positive patient-doctor relationship, the physician should refer the patient for professional counseling.

Research:  Medical Conditions Associated with MRKH

The majority of research devoted to MRKH has come from retrospective and case studies.  There are several topics explored within this area of research, including treatment, psychological aspects, and etiology of this syndrome.  The predominate area of investigation focuses on the various medical conditions, or anomalies, associated with MRKH and within each syndrome subtype.  The extent of MRKH syndrome and associated malformations varies and is somewhat reflected by the classification system of the three MRKH subtypes, which categorizes patients by the presence of additional associated malformations.

Summary of Research Findings

Between 53 to 64 percent of patients afflicted with MRKH experience associated malformations.  Renal anomalies and skeletal deformities are the most common occurring malformations.  Recent evidence indicates a higher prevalence of associated anomalies affecting women with MRKH syndrome, including women with typical MRKH subtype, the most common subtype.  These recent studies also suggest that atypical MRKH and MURCS are more common than previously estimated.  Associations previously regarded as less common, or statistically insignificant, now merit further investigation. Research on MRKH is limited and future studies are needed with larger samples and improvements in research design.

Most Recent Studies and Research Findings

In a retrospective study conducted by Oppelt, et al. (2005), a newly developed standardized questionnaire was used in investigating fifty-three patients with MRKH.  Clinical and diagnostic examinations were also included for classifying patients into one of the three recognizes subtypes.  Typical MRKH was diagnosed in 47 percent of the patients, while 21 percent were atypical, and 32 percent were classified with MURCS.  Results indicated that associated anomalies of the renal system were the most common (36%), followed by skeletal changes (28%).  In the majority of patients (74%), a rudimentary uterus was symmetrically presented as a horn or a bud.  Diagnosis of bilateral agenesis occurred with 23% of the patients.  Only 2 patients (3- 4%) presented with an asymmetrically formed rudimentary uterus, with agenesis occurring on the left side in one patient and the right side in the other patient.

Anomalies of the renal system were present in over a third of the patients.  In all 53 patients examined in the study, 23 percent were born with one kidney, a serious condition known as unilateral renal agenesis.  Nine patients (17%) were diagnosed with unilateral pelvic kidney, which was detected as right-sided in each case, except for one patient, with a left-sided case.  Two patients (4%) had left-sided sclerotic kidneys.  While these were the most common anomalies, the renal system was associated with a total of twenty-three different malformations.  According to Oppelt, et al. (2005), these results demonstrate the need for diagnostic clarification of the renal system during the initial diagnosis of MRKH syndrome.

General skeletal malformations were experienced by 28 percent of patients.  Changes in the spine were the most common significant malformation with 11 percent of patients suffering from scoliosis.  Forty-seven percent of patients who had skeletal malformations were also affected by anomalies of the extremities, particularly in the hands and fingers, including a congenital hand deformity known as syndactyly.  Other noted skeletal anomalies included a case of spinal malformations, one patient with vertebral arch disturbances at C4-5, four patients with hip deformities, two patients with hypoplasia of the wrist, one patient with absence of one-third of her arm, and one case of a deformed elbow  Neurological irregularities and cardiac malformations appeared to play a minor role.  Oppelt et al. (2005) also observed isolated malformations which included two cases of unilateral hearing impairment, seven cases of inguinal hernia, one case of high blood pressure, and one case of hypothyroidism.  Secondary malformations affected 53 percent of the patients.

No genetic cause has been identified for MRKH syndrome.  Therefore, it is difficult to confirm connections between the reproductive malformations that characterize MRKH and the accompanying anomalies and changes that appear to be associated with the syndrome.  However, evidence from over a dozen studies gives overwhelming support for a causal relationship, with reports indicating associated malformations in as many as 64 percent of patients with MRKH. Due to the frequency of associated anomalies, it is essential that patients with MRKH are not recognized as having a syndrome restricted to genital malformations.  Instead, women with MRKH should be regarded as having a complex syndrome that includes malformations in the reproductive system as well as additional organ groups.

Oppelt et al. (2005) also compared sixteen studies from 1957 through the present study to examine the distribution of associated malformations recorded in a total of 521 patients with MRKH.  Combined results indicated that 333 of the patients (64%) were diagnosed as having typical MRKH, while results from the recent Oppelt, et al. (2005) indicated a significantly lower percentage of patients with the typical MKRH subtype (47%).  The present study diagnosed 32 percent of patients with MURCS, while the combined results indicated that the prevalence of MURCS was only 12 percent.  The combined result for the incidence of the atypical subtype (24%) was slightly higher than the present record (21%).  The combined results measuring for changes in the renal system (32%) were slightly lower than results from the recent study (36%).  The authors of the present study conclude that differential diagnosis of MRKH absolutely must include clarification of associated malformations. They also provide new recommendations for basic guidelines in standard diagnostic classification of patients who might have MRKH syndrome.

A similar retrospective study conducted by Pittock et al. (2005) included twenty-five patients who had been identified with MRKH between 1975 and 2002 at the Mayo Clinic in Minnesota.  The clinical report for this study states that diagnosis of the MURCS subtype (16%), as well as the frequency of unilateral renal agenesis (28%), scoliosis (20%), and non-vertebral skeletal anomalies (16%), were similar to results from other published studies.  Minor anomalies were detected in four patients (16%), which included short neck, abnormalities of the ears, broad nasal bridge, and a high arched palate.

Two patients had digital anomalies defined as clinodactyly and preaxial polydactyly.  As previously noted, the digital anomaly syndactyly was recorded in Oppelt et al. (2005).  Polydactyly and syndactyly are among the most common congenital hand deformities, according to Bolitho (2002), a member of the American Society of Plastic Surgeons.  While malformations of the fingers and hands are not very common in MRKH syndrome, they are relatively prevalent considering that the incidence of congenital hand deformities has been estimated to be between 0.16 and 0.7 percent. In a radiographic study of forty MRKH patients conducted by Strubbe et al. (1987), over half of the patients demonstrated abnormalities in hand radiographs

The present study found a much higher prevalence of vertebral abnormalities (44%) than past studies (10-12%).  In addition, four patients had cardiac defects (16%), an anomaly which previously was not regarded as a possible association with MRKH. Cardiac abnormalities ranged from mild, to moderate, to severe.  Six patients had a heart murmur, although only four cases were considered significant.  Cardiac defects included mild mitral regurgitation, mitral valve prolapse, and a patient who had truncus arteriosus repaired at infancy.   The authors concluded that MRKH syndrome includes cardiac defects.  Further evidence to support this theory is provided by Kula (2004).  It states that certain defects on chromosome 12q and 14q defined in MRKH are also associated with other syndromes that include congenital cardiac anomalies.

In regards to the presence and development of the uterus and ovaries, Pittock et al. (2005) had almost opposite results compared to Oppelt, et al. (2005).  In Oppelt et al. (2005), a rudimentary uterus was detected in 77 percent of patients while 23 percent were diagnosed with bilateral agenesis.  However, Pittock et al. (2005) detected that the uterus was absent in 68 percent of the patients while only 32 percent of patients had a rudimentary uterus or bicornate remnant. After reviewing published literature on MRKH syndrome, I conclude that further research is needed to clarify uterine development and malformations in MRKH patients.

Case Reports

Roughly ten percent of patients with atypical MRKH suffer from one or more skeletal defects of the cervical, thoracic, and lumber vertebrae.  Skeletal abnormalities are thought to occur only in atypical MRKH.  However, Fisher, et al (2000) found a case of a woman with typical MRKH who also had congenital scoliosis.  In a study conducted by Strubbe (1992), five out of forty patients with typical MRKH demonstrated with sacralization of the fifth lumbar vertebra or spina bifida occulta.

A recent report described a unique case of a woman with MRKH.  She presented with lower abdominal pain and received a laparoscopy and laparotomy revealing an infection of the right salpinx as well as functioning endometrium in a noncanalized mullerian remnant.  The author concluded that salpingitis can occur in women with MRKH syndrome and that the presence of functioning endometrium should be taken into consideration.

Psychological Aspects

The need for counseling and psychological support for MRKH patients and their parents began to gain recognition in 1968.  In the past decade, a greater emphasis has been placed on the significance of psychological support for patients with MRKH.  Management may include psychologists, counselors, and patient support groups.  Failure to immediately confront the impact of the diagnosis can lead to subsequently damaged psychological adaptation.  Therapy and support are essential for the patient in dealing with identity issues, feeling of inadequacy, and the prospects and obstacles of motherhood.

In an interpretive phenomenological analysis conducted by Holt (2003), the studyís aim was to explore womenís personal experience living with MRKH syndrome, as well as to gain insight into the psychological, emotional, and social consequences of diagnosis and treatment.  The four main themes that emerged from interviewing patients with MRKH were: dealing with loss, sharing with others, experience with health care and medical services, and the role of time.  Feelings ranging from shock to ambivalence were common reactions for patients as they attempted to reconstruct their sense of self in the face of losses implied by the condition of MRKH syndrome.  Specific strategies were developed by patients who tried to manage the uncertainty and vagueness of their situation by seeking reliable sources of information and constructing their own theories about their condition.  Experiences with medical services and health care often intensified feelings and issues faced by the patient, contributing to the greater difficulty of creating a positive self-concept.  Interpersonal relationships were also negatively affected by the patientís fears, feelings of inadequacy, and irrational belief systems triggered by the diagnosis and treatment of MRKH.

The study recommends a collaborative biopsychosocial approach to treatment and therapy.  Other recommendations included accessibility to information regarding MRKH, opportunities to communicate with others who share the condition, and long-term followups and support.[65] In addition to Holt (2003), the effect of a group therapy program was also evaluated and the conclusion was that a semi-structured group program appears to be valuable in helping women with MRKH cope with their psychological distressConfidential online support groups with e-mail digests have emerged on the internet over the past decade, although their effectiveness has not been measured in any studies.

Improving Health Care:  Issues and Recommendations

Improving health care for women with MRKH syndrome includes new and improved standards for diagnosis, treatment, and support.  One of the issues being explored are the current nonstandardized classification systems being used in diagnosing MRKH syndrome as well as inadequately defined variables for diagnostic data acquisition.  The classification system provided by the American Society for Reproductive Medicine in 1993 is the most widely accepted classification system.  While it serves as a framework in describing mullerian anomalies and aiding physician communication, health professionals are often uncertain how to accurately report certain anomalies, especially the more complex cases.

Recently, a group of researchers in the field of MRKH conducted a study with the objective being to produce a simple, systematic, and reproducible classification system for genital malformations, such as MRKH.  At the conclusion of the study, Renner et al. (2005) devised a new classification system called the Vagina Cervix Uterus Adnex-associated Malformation (VCUAM) Classification.  The VCUAM is the first classification system that makes it possible to reflect even complex malformations in a precise and individual manner while taking associated malformations into account.  The VCUAM classification also makes it less difficult to provide proper clinical care for patients affected with reproductive birth defects such as MRKH.

Another issue in diagnosing and treating patients with MRKH is whether assessment is effectively conducted or if oversights occur.  Ultrasonography is typically used for diagnosing MRKH.  However, magnetic resonance imaging (MRI) is the best assessment tool.  MRIs provide better accuracy and more elaborative diagnostic information regarding the internal female reproductive anatomy.  Taking this further analysis during diagnosis is particularly significant in women with more complex cases of MRKH that include anomalies associated with the syndrome, such as uterine remnants, as well as more rare malformations. This recommendation is supported by evidence presented by Marten (2003), where MRI was found to play a major role in correctly diagnosing diverse subtypes of mullerian duct anomalies.

Treatment for vaginal agenesis remains a controversial issue.  Effective treatments for increasing vaginal depth continue to be investigated.  While there are various methods for lengthening the vagina, no current method is guaranteed to yield completely satisfactory results and it is difficult to determine the best treatment approach for each individual patient.  The patient may also be able to increase the depth of her vagina without surgical intervention.  Variations of the Frank technique involve dilation, or pressure that is regularly applied to the vagina.  Sexual activity may also be implemented to naturally expand the vagina.  While patients often do not find a successful dilation method, adequate vaginal depth can be accomplished by many patients within three months if dilation occurs on a frequent and regular basis.  Surgical reconstruction of the vagina is an alternative to dilation.  However, it is important to stress that the patient should not feel coerced into any treatment option or timeframe.

The McIndoe procedure is the most common surgical method for increasing vaginal depth, although similar variations are also practiced.  During surgery, space is created where the vaginal canal would be located, between the bladder and the rectum, and a split-thickness skin graft-typically taken from the buttocks-is used to form a tube that is put into this space.  Lastly, a vaginal stent, or rigid mold, is inserted so the skin will adhere during the healing process.  After about a week, the vaginal stent is removed, although it is replaced by a softer vaginal mold to be worn for a week or up to 6 months, depending on the surgeonís instructions.  While surgical methods help create vaginal space, depth can only be maintained by periodic dilation or sexual intercourse.

Conclusion

In the near future, researchers and patients would like to identify the molecular basis for MRKH.  More studies need to be conducted with improved experimental design and larger samples.  A clearer understanding of the prevalence of MRKH subtypes and associated malformations is also necessary.  A better classification system, such as the VCUAM, will be an important part of this process.  Physicians must understand how to properly identify MRKH, as well as how to explain diagnosis of MRKH syndrome to patients in an appropriate manner.  Finally, it is critical to continually evaluate vaginal treatment options in order to improve effectiveness as well as address ethical and psychological aspects related to treatment and management of Mayer-Rokintansky-Kuester-Hauser syndrome.

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