What is MRKH?

MRKH, or Mayer-Rokitansky-Kuster-Hauser Syndrome, is a something a girl is born with.  I am so new to this, that I cannot pretend to understand how it happens...but, it happens while a female fetus is developing in the womb.

It is also known as:

• congenital absence of the uterus and vagina (CAUV)
• genital renal ear syndrome (GRES)
• MRKH syndrome
• Mullerian agenesis
• Mullerian aplasia
• Mullerian dysgenesis
• Rokitansky syndrome

One in approximately 5,000 females are born with this syndrome.  From what I understand, most are not diagnosed until they are in their teenage years.  Many of the stories I have read about include a trip to the family doctor, or a gynecologist, because the teenage girl has not begun to menstruate.  This is what happened with my daughter.

What I know to be true about MRKH is that it does NOT mean that a girl, or woman, with this syndrome is not female.  Girls with MRKH are 100% female, they have two X chromosomes, and most, by the time they are diagnosed, have gone through normal cycles of puberty (growing breasts and pubic hair, ovulation). My daughter has two healthy ovaries, and has the outward signs of being female.  It is not until her gynecologist examined her that it was discovered that she did not have an inner vagina or a uterus.

Some women with MRKH have other issues associated with the syndrome that include kidney problems, heart defects, and spine issues.  An ultra-sound last week shows that my daughter has both kidneys, and that they appear healthy.  As far as the heart defect and spine issues go, we are not sure and will probably have to see a specialist to rule out these issues.  However, I am hopeful that these things will not be an issue for her because she has been a very healthy girl for her 15 years, so far.

I had personally never heard of it prior to being told by my daughter's gynecologist, after a failed hymenectomy procedure, that my daughter had what appeared to be a vaginal septum, possibly a Mullerian anomaly.  I studied Women's Studies a couple of years ago at a local university, and do not recall ever hearing of MRKH...too bad I didn't know what was in store for my family because I might have researched MRKH for my senior project.

*some of the information above was found at:  http://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome.  A lot of the information that I have at this moment comes from internet searches, which include a website called Beautiful You MRKH and Facebook groups created to raise awareness of this syndrome and provide support for women/girls with MRKH and their families.