Passing on the Y Chromosome Microdeletion

#1

My husband’s brother was diagnosed with Y Chromosome Microdeletion. He went through mTESE surgery and he and his wife were hoping to do ICSI with IVF, but unfortunately, the mTESE was unsuccessful. He and his wife have since moved on from infertility procedures and have adopted a child.

As far as we know, my husband did not inherit the micro deletion. We have been fortunate to not have any difficulty having children. Our first child was a girl, so we did not have to consider the deletion. We are expecting a boy this fall and are now beginning to do research about what, if anything, we can do for our son when he is young that could possibly help him if he inherits this condition. We are meeting with a genetic counselor in a few weeks, but the people on this board are so knowledgeable that I thought I would ask a few questions here as well.

-Are there indications that cord blood may be helpful in treating this condition in the future? We did not bank it for our daughter, but we are considering it for our son.

-Would you have your son tested when he is young to see if he inherited the condition?

-Would you have your son freeze sperm when he is a teenager?

-Any other suggestions?

I have read many articles online, but most are not written for the layperson. And it’s unclear to me whether this condition can be passed down if my husband doesn’t appear to have inherited it. (fyi, his father had five children. There is another brother, but he is not in a serious relationship and has chosen not to be tested at this time. My FIL’s brother had all girls, so that family is unaffected.)

We want to make sure that we have done everything we can for our son to allow him to take advantage of future advances in technology. The fact is we will love all of our grandchildren (if we are lucky to have them) regardless of whether they are biological or not. This is about giving our future son options.

Thank you for any help.

P.S. We are not in a position to consult with BIL and SIL to seek their advice for personal reasons.

#2

The Y-Chromosome Microdeletion is a ‘accidental mutation’. I unfortunately have this and obviously my father won’t. My brother doesn’t either, nor does anyone else in my family that I am aware of.

However, once the mutation has happened, it is guaranteed that it would pass down to male offspring. The way geneticists will describe it is a condition that remedies itself through natural selection. Ie I am unlikely to have a bio child therefore the ‘accidental mutation’ ends with me (lovely to think of things so scientifically). Your BIL would also be guaranteed to pass it on to his male offspring.

I would not hesitate though if it were possible for me to have a biological child even if it meant passing on the same condition as the procedures and science are only getting better. This is typically the situation where genetic counselling is needed or in cases where male infertility is caused through CF genes and other diseases.

So my opinion - don’t even worry about it, obviously your husband doesn’t have the gene and the chances of it occurring in your son is as likely as it is to occur in anyone else. If you wanted to be completely sure you could have your son genetically tested after he is born to rule it out (and avoid an awkward conversation with a teenage boy).

#3

[QUOTE=Jordan767]The Y-Chromosome Microdeletion is a ‘accidental mutation’. I unfortunately have this and obviously my father won’t. My brother doesn’t either, nor does anyone else in my family that I am aware of.

However, once the mutation has happened, it is guaranteed that it would pass down to male offspring. The way geneticists will describe it is a condition that remedies itself through natural selection. Ie I am unlikely to have a bio child therefore the ‘accidental mutation’ ends with me (lovely to think of things so scientifically). Your BIL would also be guaranteed to pass it on to his male offspring.

I would not hesitate though if it were possible for me to have a biological child even if it meant passing on the same condition as the procedures and science are only getting better. This is typically the situation where genetic counselling is needed or in cases where male infertility is caused through CF genes and other diseases.

So my opinion - don’t even worry about it, obviously your husband doesn’t have the gene and the chances of it occurring in your son is as likely as it is to occur in anyone else. If you wanted to be completely sure you could have your son genetically tested after he is born to rule it out (and avoid an awkward conversation with a teenage boy).[/QUOTE]

Thank you for your reply. Your clarification was helpful. I thought that it could be both inherited or an accidental mutation. I’ll have to ask the genetic counselor we meet with to clarify further. It was explained by my MIL as inherited, but she’s a layperson as well.

I’m sorry to hear that you have this condition. I hope you are successful with mTESE if you decide to pursue it. And I think you are right to take the risk of passing the deletion on if you are able to have biological children. If we all stopped procreating because we might pass along a health condition that runs in our family, there would be no one left in this world eventually. Best of luck.

#4

-Are there indications that cord blood may be helpful in treating this condition in the future? We did not bank it for our daughter, but we are considering it for our son.

I don’t think so.

-Would you have your son tested when he is young to see if he inherited the condition?

Yes, I would

-Would you have your son freeze sperm when he is a teenager?

As soon as he hits puberty, I would definitely suggest an SA, and if successful, freeze the sperm. It never hurts to have a back up plan.

-Any other suggestions?

Have him checked as soon as he hits puberty.

#5

To clarify and for others looking at this forum. In order for y-microdeletion to be inherited it has to be present in the father but this usually means he cannot have children and therefore the abnormality isn’t passed except in the case where the father has a child through sperm retrieval. Up until sperm retrieval was made possible this condition eliminates itself through natural selection. I haven’t read any research on whether a family line of genetics has a greater predisposition for this condition to occur although I will ask this to my genetic counsellor when I meet with him.

If the child is born with it, sperm banking likely isn’t an option as he would have the same infertility condition all of his life and at puberty would have zero sperm present.

It also depends on where the y-microdeletion is. Deletions in the A/B region means a very high probability that sperm retrieval is not going to be successful. Deletions in the C region mean there is a reasonable chance to find sperm.

If you needed to be sure, have a genetic test done to check for the y-chromosome microdeletion. If it isn’t there, then there is no need for a sa or anything else when the child is older.

#6

I have the “c” deletion. I would recommend genetic testing at some point. What we have been told through our 5 year IF journey is that it is hard to know where the deletion starts, my father had me and 2 sisters. He was never tested, but it is possible that he had a deletion and enough counts to have children and it progressively got worse with me. Or it could have been a “accidental mutation” just with me and my potential sons would inherit at least what I have or even worse. Since your husbands brother has it I would definitely check your son, and depending on the outcome banking could be a option. I am involved in a stem cell study for this condition and I have been assured that it will not be cured…ever, because you would have to actually replace dna which is a long walk down world controversy lol. BUT…they do believe within 5-10 years there will be much much easier ways to grow or obtain sperm for ivf than micro tese and other surgerys.