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Klinefelters Syndrome

Hi, I am 15 weeks pregnant. A couple of weeks ago, I had my genetic blood draw to test for abnormalities, trismonies, etc. My OB contacted me yesterday to know that the blood detected a XXY chromosome that could indicate my sweet boy. Has Klinefelters Syndrome. Of course, I instantly googled this syndrome and it scared me... it seems, he should be able to lead a completely ordinary life. I will be sent to a high risk doctor for further testing, but will opt out of the amino, due to its side effects. Does anyone know anything about this syndrome? Am I setting my child up for failure? I’m putting myself into a panic. :(
1 Responses
973741 tn?1342342773
Ahhhh sweetie.  I'm sorry that your doctor had to call and tell you this.  I will tell you that it doesn't always turn out to be a situation even if the genetic testing says their is a chance.  My sister thought she was going to have a baby with downs based on her genetic testing and it was not the case.  But it is good to be prepared just in case. Are they going to have you speak to someone before the birth?  I had two appointments with a pediatric doctor while pregnant to discuss some things.  So, this does happen.  A high risk doctor is a good thing.  You're going to get expert care!  Awesome.  I wish it wasn't necessary but looking at the bright side, your pregnancy will be followed very closely and you will be given lots of attention and feedback.  This may be the guide that you read on Klinefelter syndrome.  https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/symptoms-causes/syc-20353949  Not all males have significant issues with the syndrome, all are different.  Testosterone patches do wonders down the road if your son does.  If your son has Klinefelter syndrome, he will likely work with an endocrinologist to help figure out a good hormonal plan for him.  Developmental specialists and pediatricians do amazing things with kids these days and this diagnosis does not mean your son wouldnt lead a full and good life.  hugs
2 Comments
Thank you for your reply. Since finding out, I’ve found peace. As any mother, you never want to hear of your child having any type of abnormality. But what I’ve grown to realize is that if the NIPT is correct, this is one of the “better” chromosomal defects to be high risk for or test positive for. I can have the amnio done to be given an accurate answer, but I don’t want to take any risks on potentially harming our son. We will continue the pregnancy regardless if he’s born with xxy,xy,xyy,etc. I’ve researched of course, my heart breaks a little knowing he will most likely be infertile. But, God grants many other ways to father children. I can’t wait to meet our sweet little boy in November!
I have to meet with a genetic counselor at the end of June which also includes a more in-depth ultrasound, so I’m hoping to get a better understanding then. I’ve researched testosterone injections, endocrinologist, occupational and speech therapy, etc. I am happy to know that if he does indeed have this, that we will have a head start on getting him the proper care he needs. This is my first pregnancy that I’ve had the NIPT done (new doctor). I guess it’s routine now. Had my old OB still delivered, this test would had never been done and I wouldn’t have know most likely for years down the road. Thanks so much for replying and listening. I’ll update in November when we have a for sure answer.
What an amazing attitude you have and you are already a great mother to your little guy!  You are so right with everything you say about this!  I have every faith that your little one will have a fantastic life.  How is your pregnancy going otherwise?  How are you feeling?
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