Mayer-Rokitansky-Kuster-Hauser Syndrome ((MRKH))
Definition - What does Mayer-Rokitansky-Kuster-Hauser Syndrome ((MRKH)) mean?
Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is a congenital (from birth) disorder of the female reproductive system where the upper two-thirds of the vagina and uterus are absent or underdeveloped while other genitals are normal. It occurs due to a failure of the Müllerian ducts to develop. Müllerian ducts are structures in a female embryo that give rise to the uterus, fallopian tubes, cervix, and the upper part of the vagina. Because of the lack of a functional uterus and tubes, women with MRKH are infertile.
MRKH is also referred to as Müllerian agenesis (agenesis means lack of development).
FertilitySmarts explains Mayer-Rokitansky-Kuster-Hauser Syndrome ((MRKH))
Individuals with MRKH undergo puberty with normal breast development and body hair growth such as underarms and pubic hair. However, because of the absence of a well-developed uterus, menstrual periods never start (primary amenorrhea) and this is what typically causes those affected to consult a doctor. Nonetheless, these individuals experience all bodily changes associated with menstruation as the ovarian and hormonal function is intact.
Other features reported by females suffering from MRKH include:
- Cyclic abdominal pain due to the monthly shedding of the inner lining of the uterus that lacks a patent drainage pathway
- Inability to get pregnant
- A difficulty with intercourse because of a poorly developed vagina
- A difficulty with urination and recurrent urinary tract infections
- Spinal cord abnormalities
- Inserting an instrument for examining the vagina (by the doctor) may be impossible or difficult because it is underdeveloped, which further hints at MRKH
In a woman suspected of having MRKH, a doctor will perform a pelvic ultrasound. The absence of the uterus, fallopian tubes, and the upper portion of the vagina confirms MRKH. Chromosomal studies are still done to rule out any chromosomal abnormalities like Turner syndrome, which also impedes normal menstruation.
The treatment options for MRKH include:
- Applying a skin graft to create an artificial vagina
- Inserting the vaginal dilators on and off to expand the vagina (this is required even after the surgically created artificial vagina).
- Self-application of progressive pressure to the area between the vaginal opening and the anus using a bicycle-seat stool to keep the dilator in place (this technique is, however, hard and has a poor compliance)
Vaginal dilation has shown to be successful in almost all females (90–96%) with proper counseling, education, and preparation.
Laparoscopy is the preferred procedure when uterine remains or endometriosis causes cyclic pelvic pain warranting removal.
Individuals with MRKH can have children through adoption, having their eggs harvested, fertilized, and implanted in a surrogate (gestational surrogacy), and (now) uterine transplantation.