MRKH SYNDROME (MAYER-ROKITANSKY-KUSTER-HAUSER)
The MRKH is a rare congenital disorder which effects the female reproductive system. This is also called as mulllerian agenesis or vaginal agenesis. In this there will be failure of mullerian duct to develop which results in missing uterus and variable degrees of vaginal hypoplasia of upper portion. The women with MRKH are born without womb or upper 2/3rd birth canal. This conditions rare occur of one women for every 5000 women. The women with this MRKH cannot bear children.
Affected women do not have menstrual periods due to absence of uterus this is one of the sign for MRKH syndrome. The women with this syndrome the menstruation does not begin at age 16. Women with this syndrome have chromosome pattern (46,XX) and normally functioning ovaries.
Only the reproductive organs are affected then the condition is classified as MRKH syndrome type 1. Some women with this syndrome also have abnormalities in other parts of body this is considered as type 2. In this the kidneys are abnormal, and some may have hearing loss or heart defects.
WHAT ARE CAUSES OF MRKH SYNDROME?
The cause of MRKH syndrome is not known. Changes in the genes which are involved in the development before birth has been identified.
This MRKH syndrome is passed through generations in families. It is inheritance pattern which is unclear because the signs and symptoms of this condition frequently vary among the individuals affected in the same family.
In some families this condition appear to have autosomal dominant pattern of inheritance which means the copy of the altered gene in each cell typically sufficient to cause this disorder even though the gene involved is not known.
SYNONYMS OF MRKH SYNDROME:
- Congenital absence of uterus and vagina (CAUV)
- Genital renal ear syndrome (GRES)
- Mullerian syndrome
- Mullerian aplasia
WHAT ARE THE SIGNS AND SYMPTOMS?
The symptoms of MRKH syndrome greatly vary from one woman to another. The symptoms may include:
- Primary amenorrhea or absence of periods during puberty
- Normal development of sexual characteristics
- Normal external genitalia
- Normal chromosomal patterns seen on karyotyping
- Depth of vagina reduced around 2 to 7 cm
- Uterus and upper vagina are abnormal In MRKH type 1 only but fallopian tubes are unaffected
- In Type 2 MRKH the abnormal development of the uterus and vagina may be accompanied by defects in fallopian tubes as well as kidneys and spine. Some may have hearing problems
- Heart defects such as aorto-pulmonary window, atrial septal defect and pulmonary valvular stenosis.
DIAGNOSIS OF MRKH SYNDROME:
The diagnosis is based on the identification of symptoms , detailed patient history, through clinical evaluation.
- USG – trans-abdominal Ultrasonography
- MRI– Magnetic resonance imaging
- Karyotyping may be performed to examine chromosomes in sample cells.
THERAPY OR TREATMENT :
The treatment of vaginal aplasia consists of creating neovagina. The procedure may be surgical or non surgical . The non surgical techniques are considered as first line approach. Vaginal dilators are specially designed plastic tubes used to enlarge vagina.
Plastic surgery may be done to create artificial vagina called to be vaginoplasty.
Thanks for reading……..
M Keerthi kumari