Understanding Congenital Absence of Uterus and Ovaries: Causes & Management

Question
Hi Dr. Ramirez,

I'm writing from South Africa. I was born without a uterus and ovaries and have been trying to find out if there are conditions other than inter sexuality that can cause this. I don't have all my records but from what I have learnt it had something to do with a gene both my parents were carrying. I haven't had to have any surgery of any sort but had to (and still do) take hormone replacement drugs to maintain the correct levels. I would appreciate any insight you might be able to offer or any ideas as to what condition this might be.

Thanks,
Megan

Answer
Hello Megan from South Africa,

This abnormality could be due to a genetic disorder or a congenital developmental disorder.  I can't give you more specific information than that.  

To check for a genetic disorder, you would have to undergo genetic testing.  That can be done by blood test.  Your doctor can order that for you.  Once such disorder is called Rokitansky-Kuster-Hauser syndrome.  It would be worthwhile to make sure that you don't have some type of genetic syndrome that can lead to other problems.

A congenital developmental disorder is when you are genetically normal but something happened when your body was undergoing its developmental stage i.e. when the ovaries, uterus and vagina were being developed.  This could have been a chemical interruption or something else.  Again, I cannot give you any more specifics than this.  In some cases, there can be remnants of the ovaries, called streak ovaries, and if this is the case, they need to be removed because of an increased incidence/risk of ovarian cancer. Also often when there is a developmental disorder of the reproductive organs, there is a disorder of the kidneys as well since they are all derived from the same tissue.

I am sorry that I can't be more specific.

Sincerely,

Edward J. Ramirez, M.D., FACOG
Executive Medical Director
The Fertility and Gynecology Center
Monterey Bay IVF Program
www.montereybayivf.com

Monterey, California, U.S.A.

for additional information check out my blog at http://womenshealthandfertility.blogspot.com check me out on facebook and twitter with me at @montereybayivf