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Congenital Malformations of the Female Reproductive Tract: VAGINAL AGENESIS/HYPOPLASIA You may have just learned that you

or your child has vaginal agenesis or vaginal hypoplasia, and you probably have many questions and concerns. Vaginal agenesis involves many issues including concerns about physical abnormality, body image, sexual identity, and sexual/reproductive functioning. It is normal to feel confused, scared, sad and overwhelmed. The following information is meant to help answer some of the many questions that you may be pondering. This information is by no means comprehensive, but is meant to help address some of the most frequently asked questions, and to help point you in the right direction for additional sources of information. INTRODUCTION As the title suggests, vaginal agenesis and vaginal hypoplasia are part of a much broader group of congenital malformations of the female reproductive tract. Congenital means present at birth. Agenesis means absence of or failure to develop. Hypoplasia means less development than usual. Vaginal agenesis occurs in approximately 1 in every 5,000 to 7,000 female births. It results from a problem during the very early development of the reproductive system of a fetus while in her mothers uterus. There are many different conditions that may cause such a developmental problem and lead to vaginal agenesis. By far the most common, representing more than 90% of patients with vaginal agenesis, is RokitanskyMayer-Kster-Hauser syndrome, named after the doctors who first discovered and reported this medical condition (also refered to as RMKH, Rokitansky-Mayer syndrome, Rokitansky syndrome). Rokitansky-Mayer-Kster-Hauser syndrome is a condition that includes maldevelopment or absence of the vagina, fallopian tubes, cervix, and/or uterus. Some women have incompletely developed uterine remnants, or horns. The ovaries and external genitalia are normal, and the chromosome makeup of individuals is 46XX (normal female). Other symptoms involved to a varying degree are kidney abnormalities, skeletal problems and hearing loss. The exact cause of these developmental problems is not yet known. Approximately 7% to 8% of the remaining patients with vaginal agenesis have a more unusual genetic abnormality and have a condition known as androgen insensitivity syndrome (AIS). Genetically, these patients are 46XY, and lack a vagina, cervix, uterus, fallopian tubes, and ovaries. External genitalia may have a normal female appearance, or may lie anywhere along the spectrum from male to female. Even fewer patients with vaginal agenesis have other rarer conditions and more complex genetic and physical abnormalities. Regardless of the cause, the concerns surrounding vaginal agenesis are shared by all who have this condition. The remainder of this article will help address some of these issues.

DIAGNOSIS The diagnosis of vaginal agenesis or hypoplasia is most commonly made between the ages of 15 and 18 years. Most young women first present to their physicians with concerns because they have not started menstruating. Women with RMKH syndrome have normal functioning ovaries and have usually gone through puberty and have normal breast and pubic hair by this time. Women with AIS or other conditions may have additional concerns over sexual development. In either case, vaginal agenesis is the most common cause for failing to start menstruating. Diagnosis of vaginal agenesis is usually made with a physical examination by a qualified physician. Other tests, including hormonal and genetic tests can help determine what, if any, the exact cause of this condition is. Since there may be associated kidney and uterine abnormalities, imaging studies such as an ultrasound, MRI, or intravenous pyelogram may be useful. Patients are usually referred to a pediatric and adolescent gynecologist for specialized care. TREATMENT After being evaluated by a specialist, questions usually arise about treatment. It is important to know that a variety of treatment options are available for vaginal agenesis. Both non-surgical and surgical techniques are available to reconstruct the vagina. The non-surgical approach involves expanding and enlarging the tissue already present at the vaginal entrance by applying pressure (pressure dilation) over an extended period of time. Plastic surgical techniques involve constructing a new vagina out of tissue from various donor sites. Although there are a variety of treatment approaches, the results of pressure dilation are considered superior to those of surgical construction of a vagina. It is also important to realize that dilation is also required after most surgical methods of creating a vagina, and this postoperative dilation can often be more painful. It is therefore generally recommended that pressure dilation should always be the first intervention tried, with surgery utilized as a last resort. Pressure Dilation Techniques As described above, pressure dilation involves expanding and enlarging the tissue present at the vaginal entrance by applying pressure over a period of time. After dilation, the vagina naturally develops a mucosal lining very similar to that of a normal vagina, and has a more natural sensation. Two approaches to this method are available: the intermittent pressure (Frank Method) and the continuous pressure (Vecchietti Procedure). The intermittent pressure method (known as the Frank Method after the doctor who first advocated it) is performed by the girl herself at home. It involves gentle pressure application of rod-shaped appliances at the vaginal opening. This is typically done once or twice per day for 20-30 minutes. The dilators are increased in size as dilation of the vagina is achieved. The time necessary to complete treatment varies from less than one month to over a year. A variety of different vaginal dilators are available, and some refinements of the technique have been made. A specialized stool (Ingram Method) is available that allows dilation to be carried out while clothed and in a sitting position. In the continuous pressure method (Vecchietti Procedure), pressure is applied in the vaginal area by a dilation olive, a plastic bead through which traction sutures or threads are threaded. A surgical procedure is necessary to set up this method, since the traction sutures run through the abdomen and the traction device is placed on the outside of the abdomen. Following the surgery, the vagina is stretched over the course of 7-10 days.

Plastic Surgical Techniques A variety of surgical methods have been developed for constructing a new vagina. All of these procedures should be delayed until after puberty so that dilation can be tried first, and because surgical creation of a vagina in childhood usually has poor results. The most common surgical technique used is the Abbe-McIndoe Method. In this surgery, a skin graft is used to create a vagina. The skin is usually taken from the buttocks of the patient, and is then molded to form the vagina. The main problem of this procedure is the tendency of the vagina to contract, necessitating the use of dilators after surgery. Other surgical techniques are available, such as using a length of colon (gut) or peritoneum (the membrane lining the inside of the abdominal cavity) to create a vagina. For a more in depth discussion of these techniques, please refer to the Additional Information section below. GENDER, SEXUAL IDENTITY AND FUNCTIONING, AND MOTHERHOOD These concerns are common and natural when confronted with the diagnosis of vaginal agenesis. Gender and sexual identity issues may be even more troubling for patients with AIS or other more complicated genetic and physical conditions. These concerns are best addressed with the guidance of a qualified physician and professional counselor. The important thing to remember is that no one can tell that a patient has vaginal agenesis. And, following treatment, with dilators or surgery, no one will be able to tell that the patient has had a reconstructive procedure. Patients also wonder about sexual functioning and sexual pleasure. Much of the sexual pleasure comes from stimulation of the clitoris, and not from the vagina. Therefore, after creation of a vagina, and the decision to become sexually active, a patient will have normal sexual sensations and enjoyable sexual relations. Motherhood is also a very important concern. The question of Will I be able to have children? depends on the individual patient. In women with RMKH syndrome that were born with a normal sized uterus, patients may become pregnant and deliver a baby. In those women that were born without a uterus or if the uterus is small, patients may not be able to carry a pregnancy. However, since these patients have normal functioning ovaries, other options are available. In vitro fertilization can allow an egg to be fertilized by a partners sperm, and then the pregnancy carried by a surrogate mother. Adoption is another choice for some couples that are not able to have their own children. It is important to realize, however, that not being able to have your own children does not mean that you cannot become a mother. ASSESSMENT AND COUNSELING An assessment by a qualified physician and professional counseling are both necessary and very useful. Counseling can help patients and parents deal with the complex issues that this diagnosis entails. Feelings of inadequacy, gender/sexual identity and functioning, and motherhood are common concerns, and should not be ignored or deferred until a girl is considered old enough to begin her sex life. Counseling should be given near the age of puberty. The girl should be informed truthfully of her anatomical situation and concurrently told what treatment is available. Pediatric and adolescent gynecologists are an excellent resource for this specialized care.

ADDITIONAL INFORMATION Below are some useful resources for additional sources of information on vaginal agenesis and related conditions. Vaginal Agenesis / Hypoplasia Vaginal Hypoplasia: http://www.medhelp.org/www/ais/31_HPLASIA.HTM A Guide for Teens: http://www.youngwomenshealth.org/vaginalagenesis.html Vaginal Agenesis: http://www.urologyhealth.org/adult/index.cfm?cat=01&topic=150 Vaginal Atresia: http://www.emedicine.com/ped/topic2999.htm Rokitansky-Mayer-Kster-Hauser Syndrome MRKH Foundation: http://mrkh.org/ Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome Support Group: http://www.medhelp.org/www/ais/ Intersex Society of North America: http://www.isna.org Vaginal Dilators Instructions on the Use of Vaginal Dilators for the Treatment of Vaginal Agenesis: A Guide for Teen Girls: http://www.youngwomenshealth.org/instructions.html Amielle Vaginal dilators: http://www.owenmumford.com/amielle-comfort.html Dilators can be purchased from the following companies: o Syracuse Medical Devices, Inc, 102 White Heron Circle, Fayetteville, NY 13066, (315) 637-9275 o Ingram Dilators, Faulkner Plastics, Inc, 4504 E Hillsboro Avenue, Tampa, FL 33610, (813) 621-4703 o Milex Products, Inc, 5915 Northwest Highway, Chicago, IL 60631, (708) 8314080 Surgical Treatment of Vaginal Agenesis Vaginal Hypoplasia, Plastic Surgical Techniques: http://www.medhelp.org/www/ais/31_HPLASIA.HTM McIndoe Surgical Procedure for Vaginal Agenesis, A Guide for Teen Girls: http://www.youngwomenshealth.org/mcindoe.html Care and Counseling of Patient with Vaginal Agenesis Care and Counseling of Patient with Vaginal Agenesis: http://www.isna.org/pdf/foleymorley.pdf

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