Newby to Infertility & Klienfelters syndrome


#1

A few months ago, My partner & myself ( both 24 ) after 3 years of trying found out my partner has Klienfelters syndrome, this is a result of being born with a extra chromosome ( XXY ) His only ‘symptom’ is the infertility side.

We have seen a few doctors and finally been referred to the doctor who works through the Infertility clinic.

We have been given our two options - Donor sperm or Testicular biopsy followed by IVF/ICIS

This would require us having to travel 6 hours away from him to have his Testicular biopsy ( which we have been told has a 70% chance of successfully getting a good result )
then continue with the ICIS/IVF ( with a 40% chance of falling pregnant successful)

The only problem with going this way is the baby would have a very HIGH chance of having an extra chromosome, resulting in being born with Klienfelters of something else. And will most likely be infertile.

My partner is determined to try this way but Im having doubts that its very selfish of us to knowingly bring a baby into this world knowing that it may have ‘problems’

Looking for people who have been through this and what results did their pregnancy result in. Any info AT ALL would be much appreciated!!


#2

I would talk to a therapist who specializes in infertility, to start with. (You can get good references for your area from the Psychology Today website, which breaks down each therapist by specialty.) Also, your clinic might have a genetic counselor or other support person, and your doctor might be a good person to talk to, also. Lots of people have dealt with this kind of thing, and it’s certainly a complicated area. Everybody has to draw their own line for what is unethical–this is a simplified example, but most people would go ahead even if they knew “for sure” that their baby would have seasonal allergies, but may not if the “for sure” was a severe, life-long condition. Your husband is a good resource for this. On the infertility front, it’s not the same, but I have a daughter now, and I know it’s incredibly likely that she’ll have PCOS and struggle with her weight and infertility when she gets to be my age. I guess what I’m trying to say is, everybody is going to pass on something, so I would encourage you to talk to people and give it some good, hard thought to decide where this falls for you.

Finally, I don’t know if you’ve looked into PGD, but that should absolutely be a tool in your mental toolbox when you’re considering all of this. I know it’s got to be a big weight on you. I hope you’re able to feel peaceful with whatever you decide.


#3

Welcome! Sorry to hear that you are dealing with this diagnosis. My DH was diagnosed back in 2008 and we went through many of the same concerns. We met with a genetic counselor about the risks of using his sperm for IVF and discovered that the risk of passing on Klinefelter’s to a male offspring was very low. Yes, it does increase the risk of chromosomal abnormalities. That risk is about 1% in the “normal” population and about 4% when the father has KS. I read a lot about this when we were going through it and there was a study from Cornell (Dr. Schlegel) that showed that of a sampling of KS patients that had sperm, none of their male offspring had KS. I found this encouraging. We also discussed using PGD, which did trouble me to some degree because it felt VERY uncomfortable to discuss the option of weeding out non-normal embryos with someone (DH) who would have been a non-normal embryo. It felt hurtful and ultimately we determined to leave it up to God because we obviously wouldn’t have wanted DH’s parents to have not given him a chance at life, if they had had the technology to know he had KS back in the day. Don’t get me wrong, I do think PGD is a good and useful tool for diagnosing issues and I would never judge anyone for using it…it just didn’t feel right to us in our situation when it seemed likely that we would have the potential for normal embryos and we didn’t want to do anything to potentially harm those embryos. Ultimately, it ended up being a moot point because DH didn’t have any sperm when they did his surgery. We moved on to using donor sperm and have a wonderful little boy and another child on the way. It wasn’t the way I envisioned having our family, but it has been such a blessing and we’ve been grateful to have a way that we could still experience pregnancy and parenting together. I know it’s not for everyone, but it has been a positive experience for us, even when we both had our doubts about it at first.

Best of luck to you!