Showing posts with label Y chromosome deletion. Show all posts
Showing posts with label Y chromosome deletion. Show all posts

Monday, January 20, 2014

AZFb Microdeletions and a Hysteroscopy

About a week ago E and I went to his follow up urology appointment and received the terrible news that he has a complete AZFb microdeletion. I've started to post a handful of times, but knowing that information hasn't provided us with the answers we need.

The AZF region is located on the long arm of the Y chromosome and there are three segments, the proximal, central and distal, or A, B and C.  Keeping in mind that these microdeletions are extremely rare, deletions in the B region are the most uncommon and have the worst prognosis. After getting my hands on every AZFb paper I could find, the literature concludes that men with complete AZFb deletions do not produce sperm. Men with C region deletions usually have low but usable counts, but B region deletions are an end of the line sentence.  Although E did have several 0 or near 0 semen analyses, he also had a 10 million, 23 million and 2 million, so he is very clearly producing sperm.

(Source)
 
This leaves us with three possibilities:
- The genetic test was wrong, which is unlikely
- All the semen analyses were wrong, which is unlikely since they were done at 3 different labs
- E is an anomaly about whom they will write papers

We just repeated the genetic test but still need to schedule an appointment with the genetic counselor, and have a more detailed semen analysis done at a fertility clinic. We know if we were able to use E's swimmers that we'd have to select for girls, but I'm sure the counselor will want to go over it with us. That and the likelihood of donor sperm, which we are already prepared for.

For me, I had my Hysteroscopy done today, and while it was worse than I was expecting, it wasn't horrible. After the HSG I was picturing the Hysteroscopy as fairly similar, a little catheter threaded up, a numbing injection this time which I was sure would hurt, but nothing too terrible. Instead, there were at least 8 local anesthetic injections into my cervix and let me tell you they HURT, way more than I was expecting. I could feel those suckers all the way down my butt and thighs and they made me shake all over.

Then came the manual dilation of the cervix. Here I mistakenly assumed that since they'd done all those numbing injections, I wouldn't feel anything. Yeah, that was TOTALLY WRONG. I felt every single second of that and it hurt like a bitch. They ended up having to do it multiple times, including one time after they'd tried to put the camera in and it wouldn't fit. Once the camera was actually in, it wasn't horrible and it was pretty cool to see the inside of my uterus on the screen.

During my saline ultrasound, the doctor had seen a little piece of something could be a polyp but she thought it was more likely to be a bit of dislodged lining. It did it fact turn out to be lining, as I had a thick, fluffy lining, despite the progesterone I'd been taking for two weeks to thin it out, so no surgery necessary. Basically everything was normal, normal size, shape, color, it had perfect blood flow, no endometriosis, no polyps, a great lining, basically nothing physical that would prevent an egg from implanting.

At the end of the procedure, the doctor gave us a little print out of shots of my uterus. It felt like a stand in because we don't have a baby for ultrasound pictures, but we took it home for our records. You can't really see anything, just pink walls and fluffy lining.  It's scintilating.

Behold: My Insides

We also had a good chat with our doctor about possibly going with her clinic, since we have to go outside of Kaiser for IVF. I like that she is already familiar with our case and knows how the Kaiser system works, but we'll have to see if it's a good fit once we've met with the genetic counselor.