Sexual Health Reproductive Health Issues Vaginal Health What Is MRKH Syndrome? Mayer-Rokitansky-Küster-Hauser Syndrome is also known as vaginal agenesis By Elizabeth Boskey, PhD Elizabeth Boskey, PhD Facebook LinkedIn Twitter Elizabeth Boskey, PhD, MPH, CHES, is a social worker, adjunct lecturer, and expert writer in the field of sexually transmitted diseases. Learn about our editorial process Updated on November 28, 2020 Medically reviewed Verywell Health articles are reviewed by board-certified physicians and healthcare professionals. These medical reviewers confirm the content is thorough and accurate, reflecting the latest evidence-based research. Content is reviewed before publication and upon substantial updates. Learn more. by Anita Sadaty, MD Medically reviewed by Anita Sadaty, MD Facebook LinkedIn Twitter Anita Sadaty, MD, is a board-certified obstetrician-gynecologist at North Shore University Hospital and founder of Redefining Health Medical. Learn about our Medical Expert Board Print Table of Contents View All Table of Contents What Is MRKH Syndrome? Types and Symptoms Diagnosis Treatment Children With MRKH MRKH syndrome is the common name for Mayer-Rokitansky-Küster-Hauser syndrome. MRKH syndrome is a condition where young women are born either without a vagina and uterus or with an underdeveloped vagina and uterus. It is the most common type of vaginal agenesis. Agenesis is Latin for "not developed." Therefore vaginal agenesis means the vagina is not developed. MRKH affects at least one in 4500 women. MRKH syndrome was first described in 1829. However, historical evidence of the condition dates back to 460 B.C. Klaus Vedfelt / Getty Images What Is MRKH Syndrome? Women with MRKH syndrome have normal external genitalia. They may also have a small vaginal opening, 1-3 cm deep. This may be referred to as the "vaginal dimple." They also generally have functioning ovaries. However, women with MRKH syndrome have abnormal internal genitalia. They generally have no uterus and no, or only a partial, vagina. They may also have a partially formed uterus. Because of their normal-looking appearance, women may only discover they have MRKH syndrome when they fail to get their menstrual period. Another way that women discover that they have MRKH syndrome is when they try, and fail to have vaginal intercourse. Most women with MRKH syndrome only have genital malformations. However, there are rare cases where the kidneys, urinary tract, skeleton, and heart may also not be formed correctly. Other names for MRKH syndrome include: Vaginal agenesisMüllerian agenesisCongenital absence of the uterus and vagina (CAUV)Müllerian aplasia (MA)Küster's syndrome MRKH syndrome has been shown to run in families. It has been hypothesized to be a genetic disorder. However, no single gene has yet been identified as causing MRKH syndrome. This may be because it is caused by the interaction of multiple genes. There may also be other, non-genetic causes that have not yet been identified. Types and Symptoms There are two major variations on MRKH syndrome. The most well-known type is Type I. Type I is also known as isolated MRKH or Rokitansky sequence. Individuals with type I MRKH usually have a blocked or missing uterus and vagina with normal fallopian tubes. They have no other symptoms of the syndrome. There is also type II MRKH, which is also known as MURCS association. MURCS stands for Müllerian duct aplasia, renal dysplasia, and cervical somite anomalies. In addition to vaginal and uterine problems, individuals with type II MRKH may also have damage to their kidneys and musculoskeletal system. Slightly more than half of women with MRKH syndrome have type II. MRKH syndrome can be classified using several systems: ESHRE/ESGE - European Society of Human Reproduction and Embryology and European Society for Gynecological Endoscopy ClassificationVCUAM - Vagina, Cervix, Uterus, Adnex, and associated Malformation classificationAFS/AFSRM - American Fertility Society and American Society of Reproductive Medicine ClassificationEmbryological-Clinical classification The effects of MRKH syndrome on a person's daily life depend on how strongly their body has been affected by the condition. Treatment also depends on the classification of the disease. Interestingly, women with MRKH syndrome also have an increased risk of hearing problems. Diagnosis MRKH syndrome is most often diagnosed when a young woman fails to get her menstrual period. If an exam is performed at that time, the doctor will likely discover the lack of a fully formed vagina and uterus. Further diagnosis might then include MRI, ultrasound, or laparoscopic surgery. These more thorough tests can help diagnose other organ systems affected by MRKH. They can also determine whether women with MRKH have functioning ovarian tissue. Usually, one or more of tests will be used to characterize MRKH syndrome after it has been identified during a physical exam. Treatment MRKH syndrome can be treated either surgically or non-surgically. Non-surgical treatment uses dilators to slowly create a neo-vagina. Basically, the woman uses a rounded silicone rod to put pressure against the vaginal dimple. Over time, this causes the vagina to deepen and expand. There is also a dilation technique where the dilator is placed on a stool. Then the woman can use her body weight to help with dilation. Dilation is a lifelong commitment. However, for some women, regular sexual intercourse can reduce the need to dilate after enough depth has been achieved. There are several surgical options for increasing vaginal depth or creating a vagina in women with MRKH syndrome. The Vecchietti procedure attaches a bead to the vaginal dimple. Then a thread is attached and run up into the pelvis and out the abdomen. Traction can be applied to this thread to deepen the vagina. Once the vagina is at least 7-8 cm deep, the device is removed. Then women can dilate their vagina to maintain its depth and function. This procedure is faster than non-surgical dilation and may require less motivation. Women can also undergo surgical vaginoplasty. During a vaginoplasty, a cavity is created and then lined with tissue to make a neovagina. There are several types of tissue that can be used to line the neovagina. These include tissue from the peritoneum, the colon, and the lining of the cheek. The neovagina can also be lined with a skin graft. In most cases, women will need to dilate the neovagina to maintain it after surgery. Psychological support is also important when treating MRKH syndrome. Being born without a uterus and most of a vagina can cause serious problems for self-esteem. It can also make women feel inferior or doubt their femininity. There are online support groups available. Women may also benefit from in-person support and therapy. Children With MRKH Some women with MRKH syndrome are capable of having biological offspring if they wish. When a woman with MRKH has functional ovaries, in vitro fertilization techniques can be used to harvest eggs. Then fertilized eggs can be implanted in a surrogate. Unfortunately, IVF surrogacy may not be financially or legally feasible for many women. The procedures can be quite expensive and may not be covered by insurance. In addition, laws about surrogacy vary from country to country. There have also been isolated reports of successful uterine transplants. A uterine transplant has the potential to allow a woman with MRKH syndrome to carry a pregnancy. However, uterine transplants are unlikely to be widely available for quite some time. Therefore, women with MRKH syndrome should not count on them as an option at this time. Was this page helpful? Thanks for your feedback! Sign up for our Health Tip of the Day newsletter, and receive daily tips that will help you live your healthiest life. Sign Up You're in! Thank you, {{form.email}}, for signing up. There was an error. Please try again. What are your concerns? Other Inaccurate Hard to Understand Submit 7 Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. Londra L, Chuong FS, Kolp L. Mayer-Rokitansky-Kuster-Hauser syndrome: a review. Int J Womens Health. 2015;7:865–870. doi:10.2147/IJWH.S75637 Morcel K, Camborieux L, Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet Journal of Rare Diseases. 2007;2(1):13. doi:10.1186/1750-1172-2-13 Patnaik SS, Brazile B, Dandolu V, Ryan PL, Liao J. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: A historical perspective. Gene. 2015;555(1):33-40. doi:10.1016/j.gene.2014.09.045 Valappil S, Chetan U, Wood N, Garden A. Mayer-Rokitansky-Küster-Hauser syndrome: diagnosis and management. The Obstetrician & Gynaecologist. 2012;14(2):93-98. doi:10.1111/j.1744-4667.2012.00097.x Nodale C, Vescarelli E, D’Amici S. Characterization of Human Vaginal Mucosa Cells for Autologous In Vitro Cultured Vaginal Tissue Transplantation in Patients with MRKH Syndrome. BioMed Research International. 2014;2014:1-6. doi:10.1155/2014/201518 Friedler S, Grin L, Liberti G, Saar-Ryss B, Rabinson Y, Meltzer S. The reproductive potential of patients with Mayer–Rokitansky–Küster–Hauser syndrome using gestational surrogacy: a systematic review. Reproductive BioMedicine Online. 2016;32(1):54-61. doi:10.1016/j.rbmo.2015.09.006 Ejzenberg D, Andraus W, Mendes LRBC. Livebirth after uterus transplantation from a deceased donor in a recipient with uterine infertility. The Lancet. 2018;392(10165):2697-2704. doi:10.1016/s0140-6736(18)31766-5 Additional Reading Bombard DS 2nd, Mousa SA. Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. Gynecol Endocrinol. 2014 Sep;30(9):618-23. doi: 10.3109/09513590.2014.927855. Oppelt PG, Lermann J, Strick R, Dittrich R, Strissel P, Rettig I, Schulze C, Renner SP, Beckmann MW, Brucker S, Rall K, Mueller A. Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). Reprod Biol Endocrinol. 2012 Aug 20;10:57. doi: 10.1186/1477-7827-10-57. Patnaik SS, Brazile B, Dandolu V, Ryan PL, Liao J. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a historical perspective. Gene. 2015 Jan 15;555(1):33-40. doi: 10.1016/j.gene.2014.09.045. Preibsch H, Rall K, Wietek BM, Brucker SY, Staebler A, Claussen CD, Siegmann-Luz KC. Clinical value of magnetic resonance imaging in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: diagnosis of associated malformations, uterine rudiments and intrauterine endometrium. Eur Radiol. 2014 Jul;24(7):1621-7. doi: 10.1007/s00330-014-3156-3. Raziel A, Friedler S, Gidoni Y, Ben Ami I, Strassburger D, Ron-El R. Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome. Hum Reprod. 2012 Jan;27(1):126-30. doi: 10.1093/humrep/der356.