Unbalanced chromosome translocation


#1

anyone else here have this?
My dh was diagnosed with this about 4 yrs ago when we were ttc. We opted for donor sperm due to dh’s azoospermia whixh we were told was caused by this translocation. We didn’t pursue the matter further as we went and got pregnant with donor sperm and had a child. Now, my husband is sufferring from pretty intense erectile dysfunction. He didn’t used to have that. It has been about six months. HE went to a few urologists and they told him he has low Testosterone,
I Am pretty sure the low T, infertility and erectile dysfunction are all related to the chromosoem translocation.

I am going to have him request his medical records from DR Schlegel who identified the translocation.

I am concerned aobut what this could mean for his health in the future, and also for his ED now.
I am not sure if we should be gettin him to an ED specialist or more of a genetics specialist. But if the trnslocation.partial deletion of his chromosomes is the cause of it all, I am very concerned that it will not be curable.
Anyone else dealt with unbalanced translocation of you or your dh and if so what were the symptoms?


#2

My dh also had azoospermia and was later dx with a balanced translocation. For him it had little impact on his overall health, other than difficulty in having children. Otherwise he has no other symptoms related to the translocation.

Talking with a genetic counsoler can be very helpful and I would highly encourage it!


#3

thanks- I am wondering what a genetic counselor could do for him? I would love to hear any info about what they would actually do. If we do ttc any more kids we will use donor sperm so really we are trying to fix his ED and also to understand his translocation more and what we need to know about it.


#4

Naomi - I think it’s definitely related to the low T, which is probably related to the translocation. My DH has Klinefelter’s (his karyotype is 47XXY instead of the normal male karyotype of 46XY) and as a result has testicular failure, thus low T. Once we identified that he could not make sperm on his own, he opted to go on testosterone replacement. He just puts one packet of Androgel on each morning. It’s expensive and sometimes can be a trick to get insurance to cover it, but we’ve been fortunate that they cover it for him, even if it’s required jumping through many hoops. He never had issues with ED but I know it’s one thing his urologist asks about whenever he sees him. His T levels are now in the low- normal range (they were very low when he received his diagnosis) and does not have any issues yet, 4 1/2 years later. He is 34yo. Low T can cause other issues, not just ED or no sperm…can cause bone density issues and overall lack of energy so there are actual health issues to consider too. The one warning DH’s UR gave him was that there are no studies to show what the effects of long term usage of testosterone replacement may be since most people don’t use it until later in life. One of the potential risks is increased risk of prostate cancer, but we figured the risks to his overall health without the testosterone, especially the bone density issues with the physical kind of work my DH does, outweighed the potential risk.

I don’t think it could hurt for him to learn from a genetic counselor what the implications of his translocation are, but ultimately I think the answer probably lies with the urologist prescribing some form of testosterone replacement.

Good luck…hope you get some answers!


#5

Thanks, Kris. I am so happy to have someone else who is experienceing something similar so I can learn and discuss.
I am interested to hear of you and your dh’s experience with T replacement. I am glad yu explained it to me so far.
I did some research on it- and believe I read that if it is started, the person has to continue it for their whole life. Is this true? SOmething about stopping it makes it go lower.

I Am pretty unsure if I want dh to go on testosterone because of the potential health risks.

I am interested to find out if there are alternative ways to increase his testosterone.

I heard on some other forum of something called dhea- but I don’t know anything about it. Apparently it inspired testosterone to increase somehow.
I want to have dh meet with someone who really knows about all this stuff to see if there are even more wholesome ways- such as types of food or vitamins or herbs- that can increase his testosterone.

Did you come across any ideas about that in your research?

How has your husband responded to the testosterone? DOes he have any side effects? Any noticeable good effects?

thanks!!!


#6

Kris, I think you are right in that what we need to focus on is increasing dh’s testosterone. I did a bunch of research today and came up with a natural type of thing that is supposed to help with that. It would be great if it works as it could solve many of his issues. I’ll let you know in a month or so if we notice a difference.


#7

Naomi - We didn’t look into any natural alternatives…we went with what the UR said would be the best option for him. I haven’t seen any bad side effects but I will say that overall he just seems healthier and has much more energy. The only thing that is an issue with the Androgel is that I have to be very careful to steer clear of it because I don’t need my testosterone to increase. I’m glad you’ve found a natural alternative…hope it works out!