Tag Archive: Klinefelter’s Syndrome


Hey all!

Been a little while since I’ve been on here. I’ve been really busy at work.

Yesterday, we took the day off and drove 3.5 hours to Dallas to the Urologist appointment. The appointment went okay. After examination and reviewing all of the results from testing, we were basically told that there is a 10% chance of finding anything on a biopsy, but there was a lot of risks to be had with doing said biopsy. It was a little heartbreaking, but just after hearing the risks, we decided that it wasn’t for us. So there will be no biopsy, which means no IVF. At least, no reason for IVF.

We are coming to terms with the results, but the decision was a fairly quick decision that we made. We had been talking about it for awhile in preparation for the worst, but you never really want to have to fall back to that plan. You always hope for a better result. We made the decision to not move forward with the biopsy before we left the appointment. Then it came down to whether to do adoption or to go ahead with donor.

We decided to go ahead with donor as we want to experience the whole shebang if at all possible. As of right now, all my tests have come back mostly normal, so we aren’t expecting anything out of the ordinary. An upside to this is that it is on the cheaper side, so our HSA will cover what the insurance won’t for an IUI. After a lengthy conversation on the drive home from Dallas, we decided we were going to start the steps for an IUI-Donor procedure.

We have to get a hold of our RE and figure out what we need to do next, and we also have to start looking for a donor. So many steps, but we are trying to keep an eye on the light at the end of the tunnel. Hopefully it gets brighter soon, but we know that it is there.

Our lovely RE called me yesterday while at work and told me that he has gotten our genetic testing results. I was excited and scared all at the same time. Would it be good or bad news? Then the RE asked if we would like to make an appointment to come in and discuss the results or if I was okay with getting them over the phone. Are you kidding me? To know that you have the results on a Saturday where I have just basically started my 13 hour day, and not be able to hear them until I drive to fort Worth? Of course I want to hear over the phone. 🙂

So the results are in:

No Y-microdeletion – Genes have the manual on how to make sperm. Score!!

Karyotype issue – We have Klinefelter’s Syndrome.

Basically that means that most guys are a 46-xy. D happens to be a 47-xxy. Darn those pesky additions that shouldn’t be there :p. So it mainly comes down to he has the ability to produce, but it’s not enough to send them swimming out.

Ok – next step?

RE called a urologist in Frisco (that’s in Texas and not the San fran type), and gave him the run down of the test results thus far and asked what the chance of finding any pockets of sperm in a biopsy. Without examination, urologist replied that there is a 10-30% chance of finding some swimmers. So basically, we have to go ahead and make an appointment with the urologist, go in for an examination and then get a more definitive percentage.

This means that we will have to go through with IVF, so we still have to come up with that, but at least there’s a chance of finding those pesky little swimmers.We have been told by our RE that if we decide to do IVF, we should have donor sperm on back-up just in case when the time comes, if D’s gets shy and doesn’t show up in the biopsy, then we won’t have wasted the full cycle and all that money.

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