Diagnosing Y Chromosome Microdeletions: One man’s experience

Diagnosing Y Chromosome Microdeletions: One man’s experience

In preparation for this piece, I reviewed my fertility medical records for the first time in eight months. Seeing them brought back some bad memories but unlike the first time I read them, I was able to read without breaking down emotionally. While some men wait years to find out their infertility diagnosis for me within a matter of 30 days I went from not knowing what exactly my sperm count was to being diagnosed with a Y Chromosome microdeletion of the AZFb and AZFc region resulting in non obstructive azoospermia. It all started with my first semen analysis on December 26, 2012. Three hours after leaving my sample with the fertility clinic, I received a call from our Reproductive Endocrinologist that my sample came back negative. I was told that it’s unlikely a false reading but they would schedule me for another Semen Analysis in one week and some blood work to test my hormone levels and whether I had any genetic abnormalities. Regardless of the results she suggested I see a urologist once the blood work came in. I was also asked whether I had ever been on any type of steroid or exposed to anything toxic, the answer was no to both questions. Later that night I called my parents to find out whether there were any fertility issues in our family. I found out that there weren’t but it left my perplexed as to what the issue might be.

The results of my second semen analysis was of course negative. It wasn’t a shock to me as the doctor did not sound confident that it would be different than the first sample. A few days later I received a call from our Reproductive Endocrinologist that my hormonal blood results were in and that my FSH and LH levels were high and that typically means the body is compensating for the lack of sperm production by producing more of those hormones. She told me that typically that is a sign that there is a testicular failure in sperm production. The results of the genetic testing were not available yet but would be in a few days. In the meantime, I was advised to make an appointment with a Urologist who specializes in Male Fertility. The fertility clinic was able to provide me with a doctor who was in my insurance plan’s network. I was able to get an appointment on January 25, 2013 which was three weeks later. The anticipation of waiting that long to find out was tough but I would learn in the upcoming days that my genetic test results would unlock the missing piece to my infertility diagnosis.

On January 10, 2013, my hope of experiencing the joy of my wife and I conceiving a child together vanished. That was the day that I received the call from the Reproductive Endocrinologist informing me that my genetic blood testing showed that I tested positive for a deletion in the AZF region spanning both the AZFb and AZFc region. The interpretation that was listed in the lab reports read as follows:

Male with mosaicism for loss of the Y chromosome and an isodicentric Y chromosome.

An abnormal chromosomal complement with loss of the Y chromosome was observed in 20 of 50 metaphases (45,X). The remaining 30 cells exhibited an isochromosome composed of two copies of the Y chromosome short arms fused at the centromere region.

Fluorescence in situ hybridizaiton (FISH) with probes specific for SRY was done to confirm the structure of the abnormal Y chromosome, Two signals were observed for the SRY indicating the abnormal Y chromosome includes a duplication of the short arm.

The doctor told me that she spoke with the Urologist that I had an appointment with in two weeks and that on her end it didn’t sound like that there was much that could be done. That night I broke down emotionally when I got home on multiple occasions. It was probably the most devastated I have been emotionally in my adult life. A week later as depression set in, I decided I needed to seek individual therapy which I would go through once a week for the following seven months. As much as I wanted to hold onto some hope I knew that my fate was pretty much set as far as conceiving children for us.

Two weeks later my Urologist appointment brought closure to my diagnosis. He was very thorough in going through my file and answering all of my questions. Beyond my fertility the other concerns were for my long term health and whether my younger brother was at risk for having the same condition. He assured me that there has been no link to what my test results showed and any long term health complications. He also said that there is a small chance my brother could have the same condition but it wasn’t likely. The Urologist did not recommend Micro Tese surgery as there has never been a reported case of any sperm being extracted from a man with a mirco deletion of the AZFb and AZFc regions. He offered to conduct the surgery as he put it “I love to perform surgeries. So if you would like closure, I’d be more than happy to. But I would not recommend it.”. With that I decided not to pursue surgery. My first reason was the history of someone with my micro deletions extracting sperm from the surgery and the second if by some miracle they were able to extract sperm and those sperm did conceive a child any male offspring would inherit the same infertility I had. That was something my wife and I could not live with. As much as I would love to have a son that is biologically related to me its something I couldn’t live with myself knowing my selfish desires caused him to be infertile.

Looking back on those 30 days that would change the course of my adult life forever, I wish I would have been able to get more answers from my initial sperm analysis that went beyond just saying I had a zero sperm count. But I understand that a blood analysis gives a more clear diagnosis for men who test positive for azoospermia. I also wish that there was more information on Y Chromosome deletions. Because it is so rare there is little research in the medical community on it. I would like to see more and in fact would volunteer to take part in any studies that are researching it.

My advice to other men whose Semen Analysis results show azoospermia to get the full round of blood testing on the hormonal and genetic abnormality side. I’ve read stories of some men whose Reproductive Endocrinologist skip the full range of blood testing and go straight to Micro Tese surgery. Then after getting their boys sliced and diced they find out that there was no sperm to be found when a blood test could have confirmed it was a waste of time. I would also recommend that regardless of your blood test results to see a Urologist that specializes in Male Fertility. I understand that some insurance carriers networks (depending upon where you are located) may not contain a Urologist that specializes in Male Fertility but if their plan does they should see one. If they don’t seeing any Urologist is better than seeing no one. My most important advice would be to ask as many questions you have until you are confident that you fully understand your diagnosis. You need to be able to make the best decision possible knowing any risks and success rates that any treatment option can provide.