WHAT IS MRKH?
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MRKH stands for Mayer-Rokitansky-Kuster-Hauser Syndrome, named after four men who studied this birth defect. It is a defect found when a woman is born without a uterus, cervix, and, in many cases, a vagina, and therefore cannot reproduce. There can also be kidney anomalies. Since this is a syndrome, there are many degrees to this condition, so each MRKH woman is different. We are also finding other physical signs and symptoms that might be related to MRKH.
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WHAT DOES AGENESIS MEAN?
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Agenesis means failure of a part to develop or grow. So when your doctor says you have vaginal and/or uterine agenesis he/she means that your reproductive organs have not developed at all or they are only partially formed.
HOW OFTEN DOES MRKH OCCUR IN OUR POPULATION?
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No exact figures are known, because MRKH often goes unnoticed by anyone outside of the immediate family of the woman. Figures range from one in five thousand to one in a million.
MRKH is classified as a rare disorder; this classification is due to the fact that fewer than 20,000 cases have been reported worldwide.
The instances of vaginal, cervical, and uterine atresia COMBINED are rare.
WHAT IS THE CAUSE OF MRKH?
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Doctors still aren't positive about what causes MRKH, but we do know that the reproductive system often fails to develop fully during a certain time of the mother's pregnancy.
The reproductive system includes all the female
organs, such as the uterus, vagina, fallopian tubes, and ovaries. It is formed during the first few months of the mother's pregnancy. MRKH occurs when the reproductive system doesn't finish developing. When this happens, the vagina can be incomplete (lacking depth) or missing altogether. The uterus may be also be missing, or smaller than normal, or there may be a uterine remnant. The ovaries are usually found to be normal, and that is why secondary puberty changes are also normal (such as body hair and breast growth). Sometimes, there are also kidney abnormalities, as well as other anomalies which make up the syndrome of
MRKH.
Even though the specific cause of MRKH is unknown at this time, there have been several chromosomal studies to date. These have shown varied results in several unrelated chromosomes using different individuals'
genetic structures (including a break in chromosome 22, and a promising translocation break in chromosome 3). Future studies may provide new insights. While the exact cause of the condition is unknown, the defective process is well documented.
HOW IS MRKH DIAGNOSED?
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Your doctor will ask questions regarding your puberty and development. The doctor will be ruling out other conditions which also cause a lack of menstruation, so he might ask if you if you have noticed any symptoms that seem to occur on a monthly cycle like bloating, pain, etc. He or she may also ask you if you are
sexually active because some women with shorter vaginas can engage in penetrative sex but it can be painful.
Doctors will be checking to see if you have any
abnormalities of your uterus, ovaries, and kidneys. An ultrasound (or sonogram) can help them to see this. Another test is an MRI, which stands for "magnetic resonance imaging." An MRI will give the doctor a different view of your body to help diagnose or rule out MRKH. An IVP dye x-ray will help the doctors determine if your kidneys are normal. Your doctor will also order chromosome testing to get your karyotype (genetic testing).
The criteria the physician will need to meet are shown below.
-Congenital absence of functioning uterus, defined as: complete absence of uterus, or partial absence of uterus (nonfunctioning uterine remnants). This does NOT include FUNCTIONING normal uterus, and does NOT include FUNCTIONING abnormal uterus (unicornuate, didelphus, bicornuate, septate, arcuate, prolapsed, retroverted, endometrial, leiomyomas, or diethylstilbestrol).
-Congenital absence of cervix
-Congenital absence of vagina (partial or entire)
-Congenital ovary (one or more are present and functioning)
-46,XX chromosome karyotype
WHAT OTHER CONDITIONS ARE ASSOCIATED WITH MRKH?
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There are several types of conditions associated with MRKH Syndrome. The most common of these involve the bodily sections which are formed either during the same phases, or which are formed by similar developmental processes.
Additional Disorders:
These are complications which are sometimes seen in conjunction with MRKH. These conditions are not exclusive to the MRKH population. Musculoskeletal/Craniofacial Scoliosis (gradual spinal curvature, spinal fatigue) Spina Bifida (incomplete spine, incomplete spinal cord) Sprengel's (elevated scapula [shoulder]) Cleft Palate (separation of lip, palate, and/or nasal passages) Limbs, especially fingers and toes (missing, additional, or malformed) Arthritis, juvenile or adult (particularly affecting any abnormal skeletal areas) Klippel-Feil Syndrome (Klippel-Feil Syndrome may also be seen in people without MRKH. This syndrome involves congenital fusion of two or more of the seven vertebrae in the cervical vertebrae (neck). In addition there may be fusion or anomalies in the thoracic vertebrae (upper back) or lumbar vertebrae (lower back). Shortness and webbing of the neck, reduced range of neck motion, and a low posterior hairline are the most common features of the syndrome.)
Cardiopulmonary System Heart arrhythmia/ dysrythmia (inconsistent heartbeat) Heart murmur (turbulent blood flow through heart valves/vessels) Circulation (numbness or lack of responsiveness, especially in the limbs, fingers, and toes) Raynaud's Disease (Raynaud's Disease causes the extremities (fingers, toes, ears, nose) to decrease circulation in response to emotional distress or exposure to the cold. Tingling, swelling, or throbbing pain may be present.)
Genitourinary System Ovaries (missing, additional, malformed, or misaligned) Fallopian Tubes (missing, malformed, or misaligned) Kidneys (missing, malformed, misaligned, or fused) Urethra (missing, malformed, or misaligned) Bladder (missing, malformed, or misaligned) UTI (urinary tract infections) Stein-Leventhal Syndrome (Stein-Leventhal Syndrome, commonly called polycystic ovary syndrome (PCOS), is characterized by the formation of cysts in the ovaries, a process related to the failure of the ovary to release an ovum (egg). In the majority of cases, the ovaries become enlarged and cannot regulate hormones adequately.)
Anorectal System Anus (missing, malformed, or narrowed) Imperforate anus (Imperforate anus is a condition in which the rectum may end without connecting to the colon, or the anus may have openings to the urethra, bladder, or vagina.) Auditory System Deafness (partial or complete).
MURCS Association: MURCS Association (Phocomelia) is a condition involving disorders in at least three categories: MRKH; the skeletal system; and the renal system. In the skeletal system, it includes malformations of the spinal column, ribs and/or arms. The most common MURCS skeletal abnormality is Klippel-Feil Syndrome. In the urinary system, MURCS is characterized by renal (kidney) abnormalities, including agenic (absent) and/or ectopic (improperly positioned) kidneys.
ARE THERE ANY RISKS ASSOCIATED WITH MRKH?
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MRKH women may have normal and healthy ovaries, or a variety of ovarian disorders. A MRKH woman does not have an increased risk of cancers unless multiple ovaries are present, or if she has had surgical reconstruction. Multiple ovaries are both associated with a higher risk for cancer and removal may become
necessary. Vaginoplasty is also associated with an increased (low) cancer risk.
The ovaries are a source of many tumor types (benign and malignant); ovarian tumors may be diagnostically similar to cysts or infectious lesions. Tumors are uncommon in situations of vaginal, cervix, and uterine atresia (absence); however, they do happen occasionally.
Tumors are often clinically undiagnosed until well developed. In a woman lacking a menstrual cycle, there are no external changes to alert her when there is a problem. It becomes even more important to have regular well-woman exams in order to diagnose ovarian tumors as quickly as possible.
Additional cancer risks occur if the MRKH woman has undergone a surgical procedure. Surgical construction of a neovagina may result in future neovaginal cancer, although the risks are extremely low.
MRKH women with uterine remnants are at risk for endometriosis, in which the uterine lining is outside the uterus.
WHAT PROCEDURES ARE THERE TO CORRECT UTERINE AGENESIS?
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There is no treatment available for agenesis (absence) of the uterus at this time. Uterine transplantation has been attempted on several occasions, with a 100% patient morbidity rate (patient death). Further research may provide new alternatives.
WHAT PROCEDURES ARE THERE TO CORRECT VAGINAL AGENESIS?
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One of the first things many MRKH women want is a quick fix to their MRKH, and they think that having a medically created vagina will fulfill this need. It is important to note that there are other issues to consider besides just creating a vagina in order to feel like a complete female. After dealing with these issues you will realize that you are a woman even if you decide not to have a vagina.
When determining the best course of treatment, it is important to discuss your options with your doctor, or perhaps even several physicians. There are details to consider such as:
-How long am I willing to wait before my vagina is at a desirable size?
-What resources do I have available to see specialists? (which in turn often determines which technique is chosen)
-Will I have the privacy and determination needed to dilate?
CHOICES FOR TREATMENT:
No Treatment:
Some women decide not to have any treatment to create a vagina, since having a vagina is not a medical necessity. The decision for treatment should be entirely based when/if a patient is ready to go forward with one of the treatment options. If a MRKH girl chooses to postpone decisions about treatment, this should absolutely be respected. If a MRKH woman decides never to receive treatment, there are many resources available to her. Several options are available for sexuality without a vagina, including: abstinence; celibacy; and non-penetrative sex.
Vaginal Tissue Procedures:
Depending upon the procedure performed, minimally invasive treatments may be performed on an inpatient basis (hospitalized), or outpatient basis (home or clinic).
Although many surgical procedures are relatively safe, they still involve some traditional risks, especially for people with heart conditions. The minimally invasive procedures detailed in this section have very few risks associated with them. Most of these procedures do not require general anesthesia.
Dilation:
Dilation is the process of stretching the vagina; it is begun in a clinic and completed at home, and anesthesia is not required. "Dilation" is when the patient dilates (makes larger) the vagina. Even without an indentation (dimple), the tissue between
the rectum and the urethra is vaginal tissue. Dilation may be successful with any length of vagina including complete absence (no dimple), in the vaginal area
between the rectum and bladder. Dilation is recommended before considering surgery, especially in cases of Mullerian Aplasia (when only the top part of the vagina is missing). Variations of dilation include, but are not limited to: Ingram Method, Ingram Method with Veronikis Modification, and Frank Method.
Vecchietti Method This method of surgeon-assisted constant dilation is begun on an inpatient basis (2-3 days), and completed on an outpatient basis at a clinic (5-7 days); the resulting neovagina is 6-8cm. Follow-up dilation is completed by the patient at home. During the inpatient, operative procedure: a small tunnel is prepared between the bladder and the rectum. An acrylic olive is placed at the end of this tunnel. A threaded needle is passed from the abdomen through the end of the olive, then back again to the outside of the abdomen. Both external threads are
attached to tension devices, which rest outside the abdomen. During the outpatient, traction: the patient returns to the clinic or hospital every two days, and the pressure on the traction devices is increased gradually. Other variations of this include, but are not limited to: Fedele Modification, Veronikis Modification, and Gauwerky Modification.
Reconstructive Neovaginas If dilation has been unsuccessful, surgery may be performed to form a neovagina. This is generally accomplished by reconstruction. Some other terms for this construction are "vaginoplasty" or "colopopoiesis".
Use of a minimally invasive laparoscope or endoscope is recommended (tiny video camera, used to look inside the body and see the surface of organs). Most of
these surgical procedures involve a hospital stay, with several weeks of convalescence following.
The tissues used to create the neovagina will be donated from other parts of the body such as the external skin or colon. Success has been noticeably higher when the donor tissue is taken from the vaginoplasty patient. The transplanted tissues
gradually change into vaginal tissue, medically identical to natal (present at birth) vaginal tissue. The follow-up process of dilation may take several weeks, during which time the neovagina is maintained with stents. Once the neovagina has been formed, it needs to be maintained for the remainder of the MRKH woman's lifetime, with sexual intercourse or dilation so that the neovagina doesn't reduce in size, which can make intercourse painful.
Colon/Bowel/Intestine Colon procedures are more challenging surgically because the surgical team must be familiar with intestinal surgery, perineum (pelvic region), and female external organs. Vaginoplasty procedures have been performed using various parts of the colon, although the most common procedures involve using either jejunum or sigmoid colon. In intestinal transplantation procedures, a portion of the colon is attached to the end of the neovagina. Because the colon segment does not produce stricture, intestinal transplantation neovaginas do not require dilation on
the part of the patient. One popular variation of the colon procedure is called the Baldwin Technique.
Graft and Flap Procedures With graft procedures, a section of tissue is removed from the donor and sutured into the vaginal canal created to receive the tissue lining. Most graft procedures involve tissue taken from the vaginoplasty patient, which decreases the mortality (tissue rejection). Tissue donor areas are limited because the tissue must be free of hair-producing follicles; otherwise, hair will grow
from inside the neovagina.
Abbe-McIndoe Method This method requires inpatient hospitalization. It is also known as the split thickness skin graft vaginoplasty; the reason is that several grafts may be used from different areas, to create a full thickness skin graft. The fuller
thickness reduces stenosis (shrinking) of the neovagina.
The procedure uses skin grafted from the rear of the upper thigh or the gluteal (buttocks) regions. A cavity is opened between the urethra and the rectum.
Several days of convalescence follow. Dilation follows for some time after the surgery, upon the discretion of the surgeon.
Other variations of skin grafted neovaginas include the Davydov Method, and the Sheares Method.
Vulvoplasty This method requires inpatient hospitalization. The procedure uses tissue from the vulva which is under hormonal control. The labia majora are sutured together at the edges near the rectum to elongate the vagina. The resulting
neovagina is external. Upon release from the hospital, dilation is maintained for the remainder of the woman's lifetime. Variations of this procedure includes, but are not limited to: the O'Brien Method, the Okada Method, and the Williams Method.
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WHAT SIZE IS A NORMAL VAGINA?
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The average depth of the vagina in women who were born with one,is 4-6" (10-15cm).
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CAN OTHERS TELL IF I HAVE MRKH?
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Women with MRKH often wonder if anyone can tell if they are different. The answer is no. No one, except you and your doctor, can tell that you were born with
MRKH and following treatment for your vagina (with dilators or surgery) no one will know your vagina is any different from any other woman's.
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CAN I EXPERIENCE ORGASM?
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Much of sexual pleasure comes from the stimulation of your clitoris, and not from the vagina. What this means is that once your vagina is created and you decide to become sexually active, you will have normal sensations and enjoyable sexual relations, because you were born with a normal clitoris.
It does seem that those who have natural vaginal tissues (such as those made from dilation) can experience vaginal orgasms more than those who have neovaginas formed from other tissue (such as a surgical procedure). But all experience clitoral
orgasms when stimulated.
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WHAT OPTIONS ARE THERE FOR ME TO HAVE CHILDREN?
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SURROGACY: If you were born without a uterus or if you have a uterine remnant, you will not be able to get pregnant. Most MRKH women ovulate, so invitro fertilization is possible by using your eggs and the father's sperm. Then the embryo is implanted into a surrogate mother to be carried until term. This option is chosen by MRKH women who want biological children.
ADOPTION: You can go through the state to adopt, or you can find an adoption agency. Some adoptions are open, meaning the biological mother of the child will
know you and you will know them. Other adoptions are closed, meaning all information is closed in a file and is kept private. Also, international adoptions are
becoming more and more available to us.
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IS THERE FINANCIAL ASSISTANCE FOR ADOPTION?
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Many clinics have their own programs to aid in the cost of assisted reproductive medicine. Infertility is not a minor occurrence: one out of every five couples cannot conceive without assistance. In the United States, 13 states have mandated some form of infertility care, but more than 65 percent of all employees are in plans which are exempt from state mandates under federal law.
Infertility clinics have experienced low collection rates when people were billed for uncovered infertility services; therefore, many are now reluctant to offer financing. The reality is that most people seeking fertility help must pay for it themselves, sometimes through creative means or financial assistance.
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HOW CAN WE DETECT OVULATION AND MENOPAUSE?
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We do go through the changes of a menstrual cycle, without the bleeding, and some of us may even have PMS (Premenstrual Syndrome). Those of us who do not have
functioning ovaries, for example the ovaries have been removed, do not have a cycle. The cycle is regulated by the ovaries.
Your doctor can check your hormone functions through blood tests, or you can go to a drug store to get an "ovulation indicator", a test which shows when your
hormone levels change.
If you are having symptoms of menopause, such as hot flashes, you can also have a blood test called FSH to determine if you are menopausal. Then you must
determine if it is best for you to go on hormone replacement therapy or not.
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WHAT ARE SOME GOOD RESOURCES FOR CHILDLESS WOMEN?
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"Pride and Joy" by Terri Casey
"I Don't Need a Baby to Be Who I Am" by Joan Brady
"Crossing the Moon" By Paulette Bates Alden
"Why Don't You Have Kids?" by Leslie Lafayette
"Barren In the Promised Land" by Elaine Tyler May
"Sweet Grapes: How to Stop Being Infertile and Start
Living Again" by Jean and Michael Carter
"Without Child: Challenging the Stigma of
Childlessness" by Laura Lisle
"Will You Be Mother? Women Who Choose to Say No" by
Jane Bartlett
"Childlessness Transformed: Stories of Alternative
Parenting" by Jane English
"Baby Boon: How Family Friendly America Cheats the
Childless" by Elinor Burkett
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WHY DOES THE DIAGNOSIS OF MRKH MAKE ME FEEL SO
EMOTIONAL?
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Bereavement for MRKH may come from loss of identity, loss of fertility, and/or medical challenges. It may take many forms, such as denial, anger, discouragement, confusion, or withdrawal. It takes time for us to figure out what we believe and how we define ourselves. This is made even more frustrating by the fact that discussions with other people about this are extremely difficult. We may prefer not to discuss it because it may still seem surreal.
Complicating this process is the fact that we have daily reminders of what we have lost. Songs on the radio, television shows or commercials, discussions with classmates or coworkers, references in books ... these are just a few of the sources we may have difficulty with while we are still trying to come to terms with who we are.
Who has not heard or seen an advertisement for feminine products? MRKH is not something we can get away from, and it may seem as if reminders are everywhere. If you take a look around with that in mind, you will understand better what we are dealing with. We sometimes cannot help but think about it, because we need to think, in order to understand.
In time, we begin to realize that there are many different ways to define womanhood and manhood, femininity and masculinity. The true definitions
depend upon many different physical, sociological, emotional, and spiritual factors. The process of redefining our identities may be a difficult one, but the end result of this process leads us to become much more understanding, empathetic, and wise individuals.
Prepared by Kathy Willis. Publication MRKHF-R001, copyright © 2001 MRKH Foundation. All rights reserved. Revised: September 11, 2001
Kathy Carlton Willis discovered her own MRKH quite young, but it was officially diagnosed at age 17. Since then she has helped others learn how to not just survive the diagnosis, but actually thrive. Her business, Living Out Loud Communications, encompasses her roles as writer, editor, speaker, mentor, counselor, and singer. You may contact Kathy at WillisWay@aol.com or at her blog, http://imlivingoutloud.blogspot.com/
