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.

Tips for Wives with Infertile Husbands

The following was reprinted with permission from A Few Pieces Missing from Normalcy

Tips for Wives with Infertile Husbands

I recently connected with a woman on the resolve message boards whose husband is dealing with infertility. Like anyone dealing with infertility he has not dealt with it well. She has had a hard time connecting with him, which is natural given the circumstances. Just as men are going to have a hard time understanding what their infertile wives are going through, it’s going to be the same situation when roles are reversed. So I thought it might be helpful to put together a piece for women who have husbands who are infertile. Below are some tips for these women:

1) Be patient. As a couple you’ve likely been trying to have children for at least a year, it’s natural to want to rush into third-party reproduction or adoption so you can become parents ASAP. But the grieving your husband is going through is a process and he might not be prepared to go through those processes right away. In my case, I actually wanted to rush into these processes because I wanted to become a dad so bad. I’m actually glad we’ve waited because I wasn’t ready to parent a child that wasn’t biologically mine. It wouldn’t have been fair to the child.

2) Your husband’s anger has nothing to do with you. People are angry for a reason. It isn’t because they want to be angry. It’s because a person is going through some type of hurt, anxiety or frustration. Anger is a reaction to those feelings. In the case of a man who is dealing with infertility the anger that he is feeling is not necessarily because of his wife. It’s because there is a lot of hurt inside of him. Some men may feel that because they are unable to get their wives pregnant that they are less of a man. I didn’t identify with these feelings but there are a lot of men out there that do. Feelings of disappointment and frustration of being the reason his wife is unable to get pregnant can drive that anger infertile men come out with. It’s important for women to recognize that they have nothing to do with why their husband hurts.

3) Ensure your husband that it’s ok to feel the way he does. The worst thing a wife can do to their husband is tell them they are wrong and that they aren’t less of a man or that they shouldn’t feel guilty for not being able to get their wives pregnant. All that does is tell the husband that he is crazy and that he shouldn’t feel that way. It makes a bad situation worse by him questioning himself. The best thing a wife can do is console their infertile husband and tell them that it’s ok to have those feelings. No matter how crazy it may sound to you on your end, never tell your infertile husband that he is wrong. He may say some stupid things that don’t make any sense (I’ve been guilty of this many times). While you may think you are just encouraging your husband to feel down, in reality you are helping him work through his grief.

4) Don’t force your husband to express his feelings. Not every man is going to be as open with their infertility as I am. Everyone processes things differently and just because I am open with my infertility doesn’t mean it’s correct that every man should be open. How I’ve dealt with my infertility is not how every man should. In fact I’ve made so many mistakes in dealing with my infertility over the last year that I am the last one to tell another man how to deal with his infertility. It may take your husband some time to express his feelings about his infertility. But never assume just because he isn’t being open that he doesn’t hurt. You should ask him about it on occasion but never press him too hard where he becomes like a cornered animal and snaps. Going back to my first point, wives need to be patient with their infertile husband’s grieving. He may never come out and openly talk about it. You can suggest he go and see a therapist to talk about it but don’t force it on him either. Let it come naturally rather than force it. Forcing him to come out about it is short-term thinking when you both should be in it for the long haul.

5) Include him in every decision you make. The natural tendency is for women to jump the gun and come out to friends and family about their struggles to have a child. I know it’s hard to not say anything when depending upon how old you are and how long you’ve been married for friends and family to ask you when you are having kids. You want to tell them what you are going through just so they stop asking (though coming out could open up the door to unwanted annoying advice). But you need to keep in mind that your couples infertility story not only impacts you it impacts your husband as well. If you tell someone who your husband is not comfortable with them knowing then you could open the door to many issues. The other natural tendency is for a wife to pursue a treatment or pursue adopting when their husband isn’t completely on board because they want a baby so bad. I understand especially on the treatment end that your body is going to be going through the bulk of the work. But you need your husband there with you every step of the way. Remember the goal and the reason you married your husband is because you love him, wanted to spend the rest of your life with him and wanted to start a family with him. If a wife pushes a husband into something he isn’t comfortable with and it leads to issues that end up in a separation and divorce then instead of your dreams of becoming a married couple with children turns into a reality of being a single parent. That’s not what you want. It’s so easy for any woman with an infertile husband to make unintentional mistakes in working through their infertility. Infertility messes with couples heads and relationships. Couples will become disconnected at times. There are couples that never survive it because of how powerful a blow infertility is. It’s important to remember that you are a team and have to work through it together. There are times you will need to check your ego at the door and put your couple’s best interest ahead of yours (as any strong marriage does). I hope the women that read this piece find these tips helpful, the men who read this piece can identify with these things and hope that they make a difference in your relationship. I am interested to see your feedback and if you have any stories you’d like to share.

When the News Isn’t Good

When I think back to when I began to open up as an infertile man I tried to remember the moment when it all changed.  It took me a while but I came back to when I admitted to my wife that I was worried that something could be wrong after 18 months of trying to have a child.  It was on the way home after our first Reproductive Endocrinologist appointment.

In the two weeks prior to that appointment my wife expressed fears that something could be wrong.  Trying to play the role of being a big strong man, I consoled her and told her that it could just be bad timing or stress that was the reason she hasn’t gotten pregnant.  Though in the back of my mind I thought there might have been something wrong.

On that car ride home I continued to console her while she was complaining about the tests she would have to go through while I just had to give a sperm sample.  She then asked me if I was scared and that if I was I should stop hiding it because me trying to be the big tough man wasn’t helping her.  She has known me long enough plus being an attorney she knows when to spot BS.  It was then that I told her I was scared something was wrong.  It made her feel better and better supported knowing I was scared too and that she wasn’t crazy.  But I told her the problem might not be her, it might be with me.  That night and the following day we told both sets of parents that we had been trying to have children and now were getting tested to see if something was wrong.

Five days later I gave my first sperm sample.  Three hours after giving that sample our world changed forever when I got a call from the doctor saying that my sample produced zero sperm.  That was a rough day and night for us and having a supportive amazingly loving wife helped me get through it.  It would have been worse though had that been the first day I didn’t open up to my wife.  In the following weeks after a second sperm analysis produced the same result and blood tests explained my diagnosis, I went into a funk that I have still not and may never recover from.

A few weeks later, I was at a very low point when along with the help of my wife convinced myself that I needed to see a therapist.  I didn’t know what to expect.  The therapy center specialized in those going through infertility and adoption so I felt confident they knew what they were doing.  The first appointment went well and was the first time in the previous month that I felt normal.  While it has been a roller coaster ride the last nine months (ironic that its been that long) I can honestly say that opening up to my wife and seeking therapy were the best decisions I made to address the emotional pain I am and have been going through.

If I could give other guys going through IF advice it would be to find an outlet to open up to.  I’m not suggesting that every guy should come out and be as open as I have.  Everyone is different and there is no right or wrong way to open up.  But I think it’s important to open up and have some type of outlet be it telling their partner, friend, family member or therapist.  Trying to be the big tough guy bottling it up is only going to make it worse.  Part of being a big tough guy is having the ability to admit flaws.  At the end of the day, it will make you a better person and a stronger man.