Anyone else's son have Klinefelter syndrome

[BabyST]

Hi,

Anyone else have experience with their sons being diagnosed of Klinefelter syndrome?

My 20 year old just has just been diagnosed and as a family we just don't know. We are gutted. At 20 he is now infertile. They have spoken about surgically removing sperm to bank for the future. Also been offered fertility counselling.

I have a 15 and 12 year old son too. We are getting them both checked in a few weeks at the GP.

I'd be grateful for any advice.

Poor thing, that's a lot to take on board for a 20 year old. I'm not an expert (a former colleague's son had it), but I was always under the impression that KS wasn't hereditary and had something to do with cell formation during early pregnancy? In that sense I'd be surprised if your other children were effected.

In terms of your son, I think counselling is a must. There is evidence to suggest that it's better to extract sperm from people with KS when they are younger, so well worth exploring - albeit with the emotional support alongside.

The good news is that for many people the symptoms of KS are mild and with modern reproductive techniques the biggest issue of fertility can be solved.

It's also not that uncommon, so I suspect you'll find a lot of support groups out there.

Thank you. Yes he is considering the option of surgical extracting of sperm to bank. We have had a good look at the options and that seems to be his only real option. Have an appointment at the end of the month to speak about options and plan.

Most defiantly going to get emotional support. The main question is why is he the 1 in 600. I agree it's unlikely to effect my other kids but I want to be 100% sure they don't have ES

That's really good that the doctors think it might be possible to extract some sperms surgically. Someone I know had his sperm frozen early in life for another medical reason and had a baby 15 years later when he was in the right relationship.

I'd imagine the biggest challenge for him (initially) will be the perceived threat to his male identity. It's important that he sees this as a genetic quirk rather than something that says anything about him as a person. As mentioned, for many this is a mild condition (many probably don't ever get diagnosed) so I'd suggest helping him keep it in perspective. Sounds like he's got great support around him though.

I don't think there's an treat to his male identity. Everything is where it should be but it's just not growing as it should. That's mainly how it was first discovered he had sudden pain there so saw the GP she sent us to the surgical assessment unit. It wasn't till he was examined by the urology surgeon they found his testicles to be very small. On the scan they are only 3mm (I may have the mm wrong). Pain is a big issue of the last year. We know now not to worry so we manage it at home.
Sadly muscle and body hair is another issue for him. This gets him frustrated as my 15 year old is bigger than him.