an extra X chrommosone????

[melham74]

Just a Question, a mum at school is pregnant her baby is due in May, I was told yesterday that she is having a boy (I knew she was having a scan last week) but apparently there is an extra X chrommosone????? the lady who told me this asked me what it meant and I have no Idea. I havent actually spoken to the mum yet but was just wondering what anyone else makes of this.

[Tanya]

Klinefelter syndrome is caused by the presence of one or more extra copies of the X chromosome in a male's cells. Extra genetic material from the X chromosome interferes with male sexual development, preventing the testicles from functioning normally and reducing the levels of testosterone.

Typically, males with Klinefelter syndrome have one extra copy of the X chromosome in each cell, for a total of two X chromosomes and one Y chromosome (47,XXY). Less commonly, affected males may have two or three extra X chromosomes (48,XXXY or 49,XXXXY) or extra copies of both the X and Y chromosomes (48,XXYY) in each cell. The extra genetic material may lead to mental retardation and other medical problems.

Klinefelter syndrome can also result from an extra X chromosome in only some of the body's cells. These cases are called mosaic 46,XY/47,XXY.

Sounds like there are varying degrees...

Hope that helps

[melham74]

Thanks tanya, I had never heard of it before.

[Indadhanu]

I think this is a condition called Klinefelter Syndrome, and the most common feature is that the men don't produce as much testosterone as other men, and can be slow to develop during puberty. Though testosterone therapy is usually used and can be an excellent treatment. Most men with Klinefelter Syndrome are also infertilty.

ETA: Good info Tanya

[diva det]

i sent you a PM about it! If anyone else wants further info, just PM me as well

they give klinefelters boys testerone shots to kick in puberty as their testosterone levels are low in most boys with this syndrome.
One in Five males has Klinefelters. It is the most common genetic condition there is. So many men don't know that they have it until they have trouble conceiving. Modern technology is now allowing klinefelters men to produce children these days quite successfully.
HTH
odette

[blizz]

yep, that all sounds right My DH has Kleinfelters syndrome and we found out when we started trying to concieve a bubba We now know that my DH is totally infertile in fact he ended up having his testes removed as they were extremely underdeveloped (size of an infant) and they were extremely painful.
We have one DD and one bubba on the way thanks to IVF and DS.
My DH didn't have testosterone treatment during puberty as It wasn't diagnosed till a lot later.

[Bathsheba]

That's amazing! 1 in 5 !!! Is it hereditary?

[slyder]

I think Odette may have meant 1 in 500. It's definitely not 1 in 5. Do a few web searches to get a feel for the approximate ratio.

[blizz]

your right Slyder it's not that common as 1 in 5, I need to pay attention a bit more when I'm reading hee,hee

[diva det]

sorry missed a few zeros
yep one in 500- which is still pretty common- sorry late nights grr
its a totally livable syndrome that for most people doesn't stop them living normal heathly lives- except for the reproductive side
its not herediatry but apparaently happens when the mother is around 10 - 12 weeks pg the chromosone just attach an xtra chomosome onto them- just one of those things.
technology and new testosterone therapy is also helping these boys/men

odette

[blizz]

definatley not hereditary, just one of those things, as Odette says.