Situs Ambiguous and Infertility

Dear Professor Winston,

I would value and appreciate your opinion on my on going battle with infertility.  My husband and I started trying for a baby 5 years ago.  I’m in my mid 30’s and have never had a natural pregnancy, my husband is in his 40’s with no sperm issues.

I had a laparoscopy 3 years ago which diagnosed very mild endometriosis in the bowel and pelvis but nothing sufficient enough to cause infertility.  I was then referred onto IVF in the “unexplained” category.  One IVF (25 eggs, only 3 fertilised) and another ICSI (only 1 egg which fertilised) later, we’ve had one negative and one blighted ovum.  My consultants kept referring to my PCOS but this has never been an issue nor has it ever been diagnosed, so after my 2nd IVF cycle I went back to the doctors to drill down a bit more into the PCOS.  What they found is that I show absolutely no signs of having the condition but they did find that my spleen is located on the right side of my body rather than the left.  Several appointments later with consultants revealed that I have Situs Ambiguous.  The consultant we saw was really interested and had been researching this condition along with our infertility.  He told us yesterday that there is a link and some evidence between situs ambiguous and infertility, mainly that the little hair fragments can become “out of sync” (please excuse my lack of technical terms) and one of the things it most effects is the inside of the fallopian tubes.  When I had my laparoscopy the consultant “ran some fluid” through my fallopian tubes and said all was well but I’m now wondering if this may be  our issue all along.

Do you have any knowledge or experience of this condition causing infertility in women?

Many thanks for your help,

R.

Dear R.,

Your consultant is right.  Situs inversus or ambiguus is associated with a very rare genetic mutation which can cause paralysis of the little contracting fibres (the so-called dynein arms) inside the cilia, the hairs on the lining of the tubes.  It is sometimes called Kartagener syndrome and affects male fertility as sperm from men with this cannot move normally.  However, this is generally not the case in women and I have seen spontaneous pregnancies in several women with this rare condition though it may take longer to conceive.  Added to which you might be expected to have other symptoms if this is a real cause in your case.  For example, do you suffer with frequent chest infections or coughs?  As the cilia also line your tubes to the lung, you could just possibly expect to have more frequency of such infections as these hair cells normally beat towards your mouth, keeping airways free of bacteria or minute debris.  Be reassured that this mutation seldom causes more serious health problems.

I think that a second laparoscopy could be justified.  Firstly, it will record the progress, if any of your endometriosis, and secondly because it is extremely easy to take a microscopic piece of the lining of your tubes and examine it, while still living under a microscope, preferably in the operating theatre.  This will clearly show normal movement or degrees of paralysis.

Ultimately, if you do not get pregnant, IVF might still be appropriate assuming no other cause is found.  But I have to say, I am unconvinced that you have not got polycystic ovaries – getting 25 eggs in a session suggests a typical PCO response and clompihene treatment, or something similar, might be a much cheaper and more effective therapy.

Best wishes
Robert Winston