What is it?
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder that affects women. It is characterized by the failure of the uterus and the vagina to develop properly in women who have normal ovarian function and normal external genitalia. Women with this disorder develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), but do not have a menstrual cycle (primary amenorrhea). Often, the failure to begin the menstrual cycle is the initial clinical sign of MRKH syndrome. The range and severity of MRKH syndrome can vary greatly and the disorder is generally broken down into type I, which occurs as an isolated finding, and type II, which occurs with abnormalities of additional organ systems including mainly the kidneys and the skeleton. Because of the nature of the disorder, MRKH syndrome can cause significant psychological challenges and counseling is recommended. The exact cause of MRKH syndrome remains largely unknown, but there is now no doubt of a genetic origin. In this respect, an update on the most recent research publications shows the involvement of several chromosomal segments, some of them including genes likely to account for the disorder.
Signs and Symptoms of MRKH
The symptoms of MRKH syndrome vary greatly from one woman to another. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.
MAYER-ROKITANSKY KÜSTER-HAUSER SYNDROME TYPE I
This form of MRKH syndrome is also known as isolated Mullerian aplasia, or Rokitansky sequence. The disorder is characterized by the failure of the uterus and the vagina to develop properly. The severity of MRKH syndrome type I may vary greatly from one person to another. In most cases, the uterus and/or the vagina have not developed (aplasia); in other rare cases, there may be narrowing (atresia) of the upper portion of the vagina and an underdeveloped or rudimentary uterus. In some cases, the Fallopian tubes may be affected as well. The ovaries of females with MRKH syndrome are unaffected and function normally.
MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME TYPE II
When the abnormalities that characterize MRKH syndrome type I occur in association with additional physical findings, the disorder is classified as MRKH syndrome type II or (Mu)llerian duct aplasia, (R)enal dysplasia and (C)ervical (S)omite anomalies or MURCS association. The most common abnormalities associated with MRKH syndrome type II are failure of the kidneys to development properly (renal adysplasia) and various skeletal malformations, mainly vertebral. Much less frequent defects include heart malformations and hearing impairment.
Women with MRKH syndrome type II may exhibit absence of a kidney (unilateral renal agenesis), malformation of one or the two kidneys (renal dysplasia), underdeveloped (hypoplastic) kidneys and/or improper positioning within the body of one or both kidneys (renal ectopia). Renal abnormalities can cause growth deficiency, kidney stones, an increased susceptibility to urinary tract infections and abnormal accumulation of urine in the kidney due to obstruction (hydronephrosis).
The diagnosis of MRKH (Mayer-Rokitansky-Kuster-Hauser) or AIS (Androgen Insensitivity Syndrome) may be difficult for many young women, however the good news is there are treatment options to allow patients to achieve full vaginal length and experience a normal sexual life. Reproductive technologies also allow these women to have their own biologic children eventually if they so choose.
What do Doctors Miklos and Moore do to help?
While there are multiple surgical procedures described for the creation of a new vagina in women with this condition, the laparoscopic Davydov procedure is considered by far the least invasive procedure to create a full-length functioning vagina. Dr. Miklos and Dr. Moore are considered world leaders in this laparoscopic approach to create a neovagina and complete more of these procedures than any other center in the United States on an annual basis. Drs. Moore and Miklos utilize a laparoscopic modification of the Davydov procedure. The doctors travelled to Russia and were trained by Dr. L.V. Adamyan, who developed this original technique. They have used their laparoscopic expertise and suturing skills to modify the procedure, making it less invasive than most of the alternative surgical options. Studies have shown the Davydov to result in the development of normal vaginal tissue and normal sexual function including lubrication, sensation and orgasm.
Miklos and Moore Urogynecology is considered one of the world’s leading Center’s of Excellence in the Laparoscopic creation of a new vagina for patients that are born without a functioning vagina or uterus. Surgeons from throughout the United States and worldwide (including many Top Academic Centers and Universities) send their patients to Drs. Miklos & Moore for this minimally invasive outpatient surgical procedure.