Klinefelter syndrome genotype

This is my 6-week-old son. He is a very happy and healthy baby that breastfeeds well, has great muscle tone and is extremely alert and interactive. He is just like any other 6-week-old and he has Klinefelter syndrome genotype.

We first became aware of the possibility that our son had Klinefelter syndrome through a NIPT test (non-invasive prenatal test) I took when I was 8 weeks pregnant. The main reason for having this test done, for us, was to find out the gender of our growing baby. A week after the blood test, my Obstetrician phoned to tell me the results. I eagerly answered the phone, excited to find out if we were having a boy or a girl. However, I was met with the somber voice of my obstetrician telling me the test results were in and there were some “red flags”. 

He told me there was a high probability that my baby had Klinefelter Syndrome, and that we should go and see him in his office the following day to discuss what this meant. Having never heard of Klinefelter syndrome genotype before I asked him what it was, however, he was reluctant to give me any information about it over the phone. After hanging up I burst into tears. I had no idea what Klinefelter Syndrome genotype was, and had only ever heard of the more well-known syndromes like Down Syndrome, and this terrified me. After telling my partner the news, we did what anyone else would do in this day and age and “googled” Klinefelter syndrome genotype.  This was our first mistake.

Firstly, this is how we found out we were having a boy. Not by a gender reveal, or being told by our doctor, but by our google search that revealed it was a genetic condition in which a male is born with an extra copy of the X chromosome. Surprise! This was not the way I had imagined finding out the sex of our child or telling my partner.

We then started reading about the symptoms of Klinefelter syndrome genotype, and this scared us even more. ADHD, breast enlargement, flaccid muscles, infertility, osteoporosis, small penis. These symptoms hit us like a ton of bricks and had us contemplating whether or not having this child was the right thing to do. What would his quality of life be?

This was a lot to take in, as I had never even entertained the thought that the NIPT test would come back positive for any genetic conditions. We saw our obstetrician the next day, and he suggested I have an amniocentesis to confirm the diagnosis of the NIPT test as it is not 100% accurate and does sometimes give false-positive results. So to confirm KS we could get the amniocentesis done at 16 weeks or wait until our baby was born and test his blood. Either way, we had a lot to consider.

Night and day, we continued to do our research into Klinefelter syndrome genotype. We started to slowly understand what the syndrome meant and how it affected men in the real world, and not according to Google. We read research papers, we joined support groups on Facebook and even talked to men that have Klinefelter syndrome, and I think this was the most valuable thing we could have ever done. The first man with Klinefelter syndrome genotype I spoke to was Ryan Bregante. He is a champion for Klinefelter Syndrome genotype and works tirelessly to spread awareness about the syndrome and to show that men with Klinefelter syndrome are just like everyone else, if not better. Ryan has many skills and abilities and is a qualified chef, a motivational speaker, and photographer. He honestly gave us hope and an understanding of the syndrome that Dr. Google couldn’t give us.

We started to realize that Klinefelter syndrome affected men in different ways and that it has such a broad spectrum that many men don’t even know they carry an extra chromosome.

After a lot of consideration, we decided to go ahead with the amniocentesis, as we didn’t want the unknown hanging over our heads for the rest of the pregnancy. We did, however, decide that no matter the outcome we were going to have this baby. After all, it was a part of us which we couldn’t possibly let go.

A week after the amniocentesis, the doctor who performed it rang me to confirm that our son did have an extra X chromosome and was positive for Klinefelter syndrome genotype. That doctor then started explaining to me that we shouldn’t feel pressured to keep this baby, that there was no harm in terminating the pregnancy and trying again for a baby that wasn’t affected by this syndrome. That doctor then proceeded to tell me that his partner was pregnant with a baby that was diagnosed with a similar syndrome and they chose to terminate it and try again. He told me it wasn’t about creating the perfect baby, it was just that we didn’t have to raise a child with this syndrome if we didn’t want to.

This was very shocking to hear, to say the least, and something that still upsets me to this day. There is no way to tell how Klinefelter syndrome genotype will affect your child and to think expectant mothers are being told to terminate their Klinefelter syndrome genotype babies is in my opinion just appalling.

After Klinefelter syndrome genotype had been confirmed we felt a certain weight had been lifted. We continued to speak to families with Klinefelter syndrome kids and spoke with us who assured us our son would be perfectly fine. It was then that we were able to start to enjoy the pregnancy. We had regular check-ups with our obstetrician and enjoyed every ultrasound that came with those visits. Each scan showed a strong and healthy heartbeat and that our boy was growing just as he should be.

When he was ready to arrive, it went very smoothly. It was very quick labor of only 3.5 hours (which we were not expecting given he is our first child!), and there were no issues. I gave birth naturally and he weighed a healthy 3.7kg. He started breastfeeding straight away with a really good latch and now, at 6 weeks old, he has great overall strength and control, is steadily putting on weight and is hitting all his milestones. He is an extremely happy baby that sleeps through the night and we really couldn’t ask for anything more.

I know how scary it can be to hear that your child has Klinefelter Syndrome genotype and how confusing and stressful it is but believe me, there is so much light at the end of the tunnel. Klinefelter syndrome boys are sweet, kind and compassionate. There will be nothing “wrong” with your child. All kids can have issues with their development at some stage in their lives, Klinefelter syndrome genotype or not, and at the moment we are just focusing on the now.

The advice I would give to an expectant mother of a Klinefelter syndrome baby is to just enjoy your pregnancy like anyone else and look forward to meeting your eXtra special little guy.  Love Mom.


Here is an amazing Pediatric endocrinologist Martha Bardsley MD

8 thoughts on “Klinefelter syndrome genotype

  1. Thank you for your story I’m also a mother with a baby now 7 weeks who has a confirmed diagnosis of xxy and it is so encouraging to hear stories like this, we are in Ireland and i have not found a community here for xxy families we hope to build one! My baby is also so beautiful and eXtra especial!

    1. I have an almost 1yo with Klinefelters and he’s been no different to his 3 older brothers 🙂 he’s hit every milestone so far and no one would know he was eXtra special.

  2. This is so close to my story! As a single mother, the news was so unexpected. I thought the biggest surprise was that I was going through the pregnancy alone! The online information was scary at first! Once I did the amnio to confirm, I read as many scientific studies as I could find and decided that he only had potential to have issues any other kid could potentially have anyway (with maybe a slightly raised likelihood). My doctor let me know they’d be supportive no matter what, but no one encouraged me to go either way. They set me up with a geneticist to meet with and I found the extraordinary kids programs in CO and found out there’s one locally me to me at CHOC, so I knew I could find the right support in any eventuality. He is 13 weeks old today and he is perfect!!! Some issues breastfeeding, but otherwise no muscle tone issues and meeting all his milestones so far. He is the sweetest, easiest baby. I can’t imagine life without him!!! I don’t even think about his diagnosis very much, but I love reading stories similar to mine and knowing there’s a community to support us.

  3. Hi,
    I had asthma upon my birth, I was sick most of my growing up and that my mother had thought that I was going to die. Family Doctor had told my mother to feed me cod liver oil to strengthen my lungs, heart and to make me strong. I was always gasping for air, easily tired, couldn’t run much, nor was I able to play football or climb anywhere without halfway getting tired, hence never had the courage to climb much more that a set number of steps.
    I didn’t read people- their facial expressions – their inner couldn’t be discerned either, I think looking back then, I realize it in my adulthood that one of the traits of a 47Xxy is what I had lived through.
    From the outside, I had looked just like my older siblings, I being the youngest of the dozen , five brothers before me and six sisters before, with the same set of late parents.
    I was born to the late mother when she would have turned 44 years old, in my thoughts, I had it ingrained into me that because of my late mother, this X-tra X into my genotype.

    I had known since baby days that I didn’t fall into the norm, I am very creative, tall, very handsome (only knew this by way of the opposite females wanting to get to know me)
    I was very shy , at puberty I had some facial hair but not much, I wasn’t quite sure where I was fitted, not into the female nor the male – so who it what was I ?

    I had always been attracted to females, on occasion I had found that other males had found me attractive, but I was never attracted to the male species.

    I had only found out about my condition by a process of evaluation , getting checked out about my general health , this was in the U.K in 1984/5, when indeed, I had found out that I will not father a child, chances were one in a million if my better half would get pregnant, hearing this news was a blow to my inner self, as my life had turned upside down¿?

    I am 60Plus, but I am also on the Testesterone treatment for the last 21 years, thus latter have made my body slightly different, in that my feet have grown two sizes up, I shave regularly, sex like is good,
    I do physical exercises, like weight training, used to play squash, yoga, my body stretches a great deal more than other males.
    I think because of training in Marshall Arts and Yoga since about age seven could have contributed to better health.
    I am truly grateful that I was born this way by a fluke of nature, it’s been tough growing up, but well worth it, I wouldn’t want it any other way.

  4. Thank you for sharing your story. My son is almost 12 and was diagnosed at age 2. We were told over the phone by a pedi neurologist and immediately went to google as well. Michael is a tall handsome boy who loves soccer and basketball. He is also starting to get a little girl crazy 😜. I couldn’t believe when I read that your doctor even mentioned termination. I didn’t know before he was born, but couldn’t imagine life without him!! Enjoy every minute with your beautiful boy!! Us KS moms need to stick together!

  5. Thank you so much for this post. I’m 24 weeks pregnant and had almost the exact same experience as you- learned the news of the NIPT test via a patient portal message (read: email) from the doctor and then learned the sex of the baby via a google search. We didn’t know that the test looked for KS- or what that even meant.

    Many times I was asked by the genetic counselor if we were going to keep the baby which was incredibly upsetting.

    I live about 20 minutes from the doctor you recommended, and have already been in touch. They are scheduling an appointment with me before the birth so I can have a conversation with a more educated professional, and then after the birth so we can make sure my son has a good care plan from the start. Thank you so much for the recommendation!!

  6. I also have a 12 year old with 47xxy and he is a wonderful, bright kiddo. I had a run in wth a pediatrician when my son was 2 or so mentioning offhand how most people who find out prenatally about 47XXy terminate their pregnancies. Like this had anything to do with why I was there! I was so offended and upset about this comment I called Kaiser and gave them some serious feedback. I yelled! Your child is always still your child. He will be like you and your partner, and he will have 47xxy. Mine lives to read like I do and plays golf well, like my husband. And he has an extra chromosome. Hug that baby of yours for me please. And thank yog for sharing your story.

  7. Thank you for this post. I have a 9 week old son with 47xxy. Like you, we found out at NIPT and confirmed with amniocentesis. I didn’t really relax and enjoy the pregnancy until well into the second trimester, and even then I often found myself worrying about what the future held.
    All of our ultrasounds were perfect, showing a happy, growing baby. He arrived via planned c-section at 39w. Just before they pulled him out, I broke down in tears, worried about what he would look like, and be like. But the second I saw him I knew- he was perfect. A perfect, healthy, wonderful little boy. I only wish I had realised this earlier on in the pregnancy, and focused on living in the now- no one can see what the future will bring, 47XXY or not.

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