Overview

"Any congenital anomaly of the reproductive tract may affect a young woman's sexuality, ability to have sex, body image and/or her future fertility. That can be quite upsetting for patients and parents, to find out they may not be able to have a child conceived naturally, and they may not be able to carry a baby. For women with MRKH, it's very important remember that she is normal, and that she has normal hormones, normal chromosomes and that she is a normal woman." Dr. Marc Laufer, MD, Chief, Division of Gynecology During pregnancy, a baby's reproductive system may not finish developing in the mother's uterus. She may be born without a vagina and have other absent reproductive organs. This condition is called vaginal agenesis.

Vaginal agenesis affects 1 out of 5,000 to 7,000 female infants. Sometimes vaginal agenesis is recognized at birth. Most times, the condition isn't diagnosed until puberty, when the teen notices she hasn't started her period and seeks medical advice. 90 percent of patients are born with Mayer-von Rokitansky-Kster-Hauser's Syndrome (MRKH)have a collection of symptoms which may include an absent uterus and cervix, kidney, hearing loss, and a possible spinal abnormality such as curvature of the spine. All females will either have an absent vagina or an incomplete vaginal canal. Young women with vaginal agenesis have normal ovaries and normal external genitalia and thus go through puberty and develop breasts, under arm and pubic hair, except they will not have a periods. 30 percent of patients with vaginal agenesis have kidney abnormalities. Usually, one kidney is absent or one or both kidneys are dislocated. The kidneys could also be fused together in a horseshoe shape. Approximately 12 percent of girls with vaginal agenesis have skeletal abnormalities. Two thirds of those patients experience minor problems with the spine, ribs or limbs.

It's perfectly normal for your daughter to feel anxious and or sad when she hears this diagnosis and grasps that she will not be able to become pregnant and carry a child. Gender identity and body image issues are also expected, but it's important for you and your daughter to know that she is a genetic female with the ability to experience normal sexual feelings. After successful treatment, no future sexual partner will be able to tell that she was born with vaginal agenesis. How Boston Children's Hospital approaches vaginal agenesis: The staff at the Center for Congenital Anomalies of the Reproductive Tract is committed to working with females up to age 22 who are born with an anomaly of a reproductive organ, including vaginal agenesis. The multidisciplinary team of gynecologists, radiologists, nurse specialists and social workers here at Childrens Hospital Boston are dedicated and have the expertise to treat your daughter with exceptional medical care and with respect. The team understands that this is a sensitive diagnosis. The Center is equipped to provide a full range of services including testing, treatment, counseling and follow-up, not only caring for the physical

effects, but also providing much needed understanding and emotional support for the teen and her family. Childrens Center for Congenital Anomalies of the Reproductive Tract at Childrens Hospital Boston is the largest referral center for pediatric and adolescent MRKHin the United States. While it is a condition hidden from the public eye, it can be psychologically devastating for the young women and her family. Learn more about coping strategies for parents and guardians of children with MKRH.

In-Depth
We understand that you will likely want to learn more about vaginal agenesis in order to seek the best medical care for your daughter. The Gynecology team here at Childrens Hospital Boston has the resources and expertise to provide the medical care and emotional support that your daughter and family will need to cope with this condition. What is vaginal agenesis? Vaginal agenesis, or absence of the vagina, is a congenital disorder of the female reproductive tract. It affects approximately 1 in every 5,000 female infants. The cause of vaginal agenesis is unknown. The most common form of vaginal agenesis is Mayer-von RokitanskyKster-Hausers syndrome (MRKH), in which the vagina did not grow during embryologic development. It is important to know that all women with MRKH do have functional ovaries, have normal development of breasts and pubic hair and make normal female hormones. There are many variations to MRKH

no vagina and no uterus (in which case she would however have normal ovaries) alternatively no vagina and may have a single midline uterus and no cervix o She will not have periods that will allow flow of blood out of her body as she has no cervix and no vagina. With menstruation and shedding of the endometrial lining, the blood would go in a retrograde fashion, meaning she would bleed back into her uterus instead of outside her vagina. small rudimentary uterine horns which are lateral to the midline

As described above, women with vaginal agenesis may or may not have uterine structures. For management, the goal would be to create a vagina for sexual activity and then the option for reproduction would involve the utilization of assisted reproductive technologies using her eggs and her partners sperm and placing them within a gestational carrier, also known as a surrogate mother.

Causes
What causes vaginal agenesis? The exact cause of this genetic abnormality is unknown, but many different congenital conditions are known to lead to vaginal agenesis.

Mayer-von Rokitansky-Kster-Hauser's Syndrome (MRKH) leads to 90 percent of vaginal agenesis cases. There are several different variations of this congenital disorder. Some patients may have no vagina and no uterus. Others may have a midline uterus, but no vagina and no cervix. Sometimes MRKH is associated with kidney, skeletal and hearing problems. Most commonly, a patient with MRKH will not have a uterus. It's important to understand that if your daughter has MRKH, she has a karyotype of 46 XX, meaning she is genetically female. Approximately seven to eight percent of patients with vaginal agenesis have a less common condition called androgen sensitivity syndrome (AIS). These patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries. There are no known ethnic groups that are especially at risk for vaginal agenesis.

Is vaginal agenesis inheritable? There is little evidence that agenesis of the lower vagina runs in families. There are no known risk factors for vaginal agenesis. How will vaginal agenesis impact my daughter's sexual life or fertility?

Depending on the reproductive organs affected, your daughter's sexual life and fertility could be impacted in a variety of ways. If she was born with a normal-sized uterus, she may be able to become pregnant and deliver a baby. There are options for women born without a uterus or with a tiny uterus. The ovaries that make eggs function normally. With the help of assisted reproductive technology, your daughters own egg(s) could be fertilized with her partners sperm then placed in a surrogate carrier, when the time is right. Much of female sexual pleasure comes from stimulation of the clitoris. Since patients with vaginal agenesis have normal external genitalia, she should be able to experience normal orgasmic function.

Symptoms
What are the symptoms of vaginal agenesis?

small pouch or dimple where vaginal opening should be lack of menstrual cycle lower abdominal pain if a uterus is present without a connection to a vaginal canal.

FAQ

Q: Is my daughter really a female? A: Even if your daughter has MKRH, and lacks a vagina, she is still genetically female with two X- chromosomes just like any other girl. Her ovaries are not affected so her body will make normal hormones and she will go through puberty along with other young women her age. Q: Can my daughter still have her own genetic children if she doesnt have a vagina? A: Yes. Most young women will need to use a gestational carriers (surrogate mother) uterus to carry and deliver a baby, but use their own egg(s) and their partners sperm to conceive the baby. Q: Will my daughter be involved in the decision process to have treatment? A: Yes! We believe your daughter should be actively involved in her treatment plan. She should be the one to decide when and what type of treatment she would like or no treatment at all.

Questions to ask your daughters doctor

After your daughter is diagnosed with vaginal agenesis, it is normal to feel worried and perhaps overwhelmed with a lot of new information. Lots of parents find it helpful to jot down questions as they arise- that way, when you talk to your daughters medical team you can be sure that all of your questions and concerned are addressed. If your daughter is old enough, you may want to suggest that she writes down any questions as well. Here are some questions to get you started:

What are the treatment options for vaginal agenesis? How can help my daughter cope with having vaginal agenesis? What kinds of resources are available for my daughter and family?

Adolescent Medicine Vaginal agenesis tract is usually not detected until a young woman reaches her the teen years. In combination with the usual psychological challenges of adolescence, having a condition of the reproductive system is especially difficult. Learn how Childrens Division of Adolescent Medicine helps your daughter not only as a patient, but as an individual person with unique challenges as she faces her condition. Watch this video to listen to children with asthma explain how it affects them physically at school, playing sports and with their friends.

Tests

The first step in treating your child is making an accurate and complete diagnosis. Testing is especially important for vaginal agenesis, in order to understand the extent of the reproductive anomalies. Dr. Marc Laufer and his staff at the Center for Congenital Anomalies of the Reproductive tract have over 20 years of experience treating young women with vaginal agenesis and other congenital reproductive anomalies so the appropriate diagnosis and treatment recommendations can be made. Young women typically present for testing sometime during the middle teen years when they experience primary amenorrhea, or lack of a menstrual periodafter having normal breast development.They can come to Childrens after being referred for an evaluation, or to confirm a previous evaluation from another provider. Testing options:

external genital exam modified internal exam ultrasound MRI

Testing for Mayer-von RokitanskyKster-Hausers (MRKH) syndrome

Karyotyping Karyotyping is a test that allows doctors to examine chromosomes in a sample of cells and pinpoint specific genetic causes of a disease. MRKH has a karyotype of 46 XX, which is a normal karyotype for all women. All girls diagnosed with MRKH are genetic females.

Treatment & Care

Unlike most medical conditions in which we seek treatment immediately after diagnosis, with a vaginal agenesis we typically do not intervene immediately unless there is pain, or a specific medical reason to proceed.It's entirely up to your daughter to decide when and if she is ready for treatment. We believe she needs time to understand her condition and grieve the emotional disappointment of not having a complete reproductive system. We have the expertise to help her cope and deal with sensitive issues surrounding this diagnosis. She may opt to wait or do nothing. If she plans to have sexual intercourse now or in the future, she may decide to create a vagina. When the time is right, we will support her decision, offer treatment options and expect her to be actively involved in the process. Creating a vagina

Many girls with vaginal agenesis decide to create a vagina during their teenage years. Treatment options Vaginal agenesis treatment at Boston Children's Hospital falls under the guidance and expert care of the staff of the Center for Congenital Reproductive Anomalies. Vaginal dilators

Dilator treatment is the standard, most efficient treatment for MRKH. It's recommended by the American College of Obstetricians and Gynecologists (ACOG) as the first choice of treatment to create a vagina for girls with MRKH. The main advantage of vaginal dilation is that it doesnt require surgery. The main disadvantage is that it requires using a dilator once to twice a day until the vaginal canal is stretched to a normal length. A vaginal dilator is hard smooth plastic and shaped similar to a tampon. When pressure is applied by hand over time it stretches the vagina. Ideally, it should be used 15 to 20 minutes twice each day until the vagina is complete which can be anytime between 2 months to 18 months. The size of the dilator will be increased as time goes on. For more information, read the following guide: Instructions on the Use of Vaginal Dilators. A recent study done at Boston Children's Hospital found that 88 percent of young women who chose to use dilators consistently to make a vagina were able to do so within a year and a half. It should be noted that a young woman with vaginal agenesis can have normal orgasmic function as the clitoris and the external genitalia are formed normally. The vagina may have natural amount of lubrication or a water-based lubricant is recommended during intercourse if there is a lack of natural lubrication. The success rate of vaginal dilatation with the utilization of dilators depends on how frequently and consistently the dilators are use as well as the amount of pressure that is applied.

Support and Resource There are potentially strong psychological effects of having a vaginal agenesis. Issues of sexuality, sex, fertility and body image can be a difficult adjustment for both you and your daughter. The Center for Congenital Anomalies of the Reproductive Tract have mental health professionals specialized in vaginal agenesis.

Nurse Educators with over 15 years of experience working with young women with vaginal agenesis. Social Worker with many years of experience and training to support young women with vaginal agenesis and her family.

Having a team of mental health professionals and nurse educators that specialize in caring for young women with vaginal agenesis makes a tremendous difference in what we can offer in the way of support. The team assists young women to develop coping strategies for patients and

parents, rather than having the patient waste their time educating the mental health professional on their condition. For parents and guardians Vaginal agenesis can be a difficult condition to be diagnosed with, and as a parent or guardian, you want to be able to discuss such a challenging issue with your daughter, as she may be embarrassed to talk about it with anybody else. The Center for Young Womens Health has some important information and resources to help educate yourself on vaginal agenesis so you can provide educated, as well as caring support. Learn some important information about vaginal agenesis, and some coping strategies for you and your child at the Center for Young Womens Health.

Coping & support:

Patient education: From the office visit to pre-op to the recovery room, our nurses will be on hand to walk you through your childs treatment and help answer any questions you may have How long will I be separated from my child during hospitalization? What will treatment be like? They will also reach out to you by phone, continuing the care and support you received while at Childrens. Parent to parent: Want to talk with someone whose child has been treated for vaginal agenesis? We can often put you in touch with other families who have been through similar experiences and can share with you their experience at Childrens. Faith-based support: If you are in need of spiritual support, we will help connect you with the Childrens chaplaincy. Our program includes nearly a dozen clergy representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions who will listen to you, pray with you and help you observe your own faith practices during your hospital experience. Social work: Our clinical social workers have helped many other families in your situation. Your social worker can offer counseling and assistance with issues such as coping with your childs diagnosis, stresses relating to coping with illness and dealing with financial difficulties. Visit our For Patients and Families page for all you need to know about:

getting to Childrens accommodations navigating the hospital experience resources that are available for your family

Research & Innovation

Childrens Hospital Boston develops treatments informed by evidenced based research. Childrens is home to the worlds most extensive research enterprise at a pediatric hospital. Non-surgical option for vaginal agenesis. In a 12 year retrospective study performed at CHB, in which 69 females with vaginal agenesis participated in a progressive perineal dilation program, progressive perineal dilation was found to be a safe and effective minimally invasive alternative to surgery.Progressive perineal dilation is a nonsurgical, outpatient and self-administered treatment that avoids the need for anesthesia and is more cost effective than invasive surgical options.This is a self-administered treatment in which the patient uses a vaginal dilator to place pressure on the introital dimple between the anus and urethra to create a neovagina. Since progressive perineal dilation does not require operation, the American College of Obstetricians and Gynecologists recommend it as the first option to create a neovagina. Currently, 92% of the participants achieved functional success at a median of 18.7 months of treatment, or about a year and a half. At the time the research paper was written, there was only an 88% success rate, but it is currently 92% since several more participants successfully completed dilation after the paper was written. Functional success in this study was defined as the ability to achieve sexual intercourse or when the neovagina could accept the dilator at a vaginal depth of 7 cm. The perineal dilation program recommended that the patients use a vaginal dilator two to three times a day for 20 minutes. Neither Childrens Hospital Boston or the Gynecology Program at Childrens unreservedly endorses the information found at other websites mentioned on our Web pages.