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OT/Crosspost: Klinefelter's Syndrome

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Hi folks,I have a friend who told me today he brother (40's) has Klinefelter's

Syndrome, and she suspects a possibility her 14 y/o son may have it as well.

They didn't discover her brother had it until he was 18, and apparently this

syndrome is very rare. I wanted to see if any of my autism pals had any

experience or knowledge about this syndrome.Thanks!

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Has your friend had her son DNA tested? It's a sex-linked chromosomal

disorder and he will be XXY (or mosaic XXY) instead of XY. If he does

have it and he's 14 then she he would need to start testosterone

pretty quickly so that he may have a more normal puberty. He might

have some breast development and tend to be more rounded in body

shape and overweight as well. it doesn't generally affect cognition,

although some XXY males have delayed or impaired speech development.

On Sep 7, 2009, at 8:51 AM, lisa lally wrote:

> Hi folks,I have a friend who told me today he brother (40's) has

> Klinefelter's Syndrome, and she suspects a possibility her 14 y/o

> son may have it as well. They didn't discover her brother had it

> until he was 18, and apparently this syndrome is very rare. I

> wanted to see if any of my autism pals had any experience or

> knowledge about this syndrome.Thanks!

>

>

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-

Hi, my son is 2 years old and was prenatally diagosed with xxy.

Without the prenatal diagnosis, we would have no idea.

XXY can lead to some learning issues (mostly language based) and low

testosterone production, and usually infertility. Most men are taller

than average for their family.

There is a great site with support groups at www.genetic.org

My son has really benefited from enzyme and vitamin support,

particularly lipase, fish oil (EPA and DHA) and extra B vitamins. He

does seem to be a hair behind on language and he was a little slow to

walk. He is very visual and is a very bright boy. I have learned

about enzyme therapy and other learning delays as a preventative

measure, but most docs who have met him say without the prenatal

diagnose they would have no idea.

Your friend should have her son evaluated by an endocrinologist to

determine if he might have xxy.

On Mon, Sep 7, 2009 at 8:51 AM, lisa lally<tsbbcrw@...> wrote:

>

>

> Hi folks,I have a friend who told me today he brother (40's) has

> Klinefelter's Syndrome, and she suspects a possibility her 14 y/o son may

> have it as well. They didn't discover her brother had it until he was 18,

> and apparently this syndrome is very rare. I wanted to see if any of my

> autism pals had any experience or knowledge about this syndrome.Thanks!

>

>

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Hi Mandi,

Would that have anything to do with the thought of excess testosterone in

autistic boys? Her brother does have the extra female hormone.

Thanks,

>

>

> In a message dated 07/09/2009 16:52:58 GMT Daylight Time, tsbbcrw@...

> writes:

>

> Hi folks,I have a friend who told me today he brother (40's) has

> Klinefelter'Hi folks,I have a friend who told me today he brother (40's) has

> Klinefelter'<WBR>s Syndrome, and she suspects a possibility her 14 y/o son may

> have it as well. They didn't discover her brother had it until he was 18, and

> apparently this syndrome is very rare. I wanted to see ifHi

>

>

>

> >>My son with regressive autism has 47XYY (Klinefelters is XXY), he was Dx

> at Amino.

>

> I used to hang on 47XYY lists and IMHO 99% had autism..........., more

> males affected with autism, 47XYY is extra male

>

> Mandi in UK

>

>

>

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  • 2 weeks later...

You say see an endocrinologist for a test? Is it a genetic test, swap the cheek

kind of thing or blood? Was thinking of having my ped do it.

My guys is off, and I think Klinefelter's might be it. Amazing, he's almost 10

and I think this might be the missing key. He was off the chart starting at 6

months, big kid, we are not tall at all. Poor fine/gross motor skills, was a

very unsteady slow walker, about 14 months. Cognitive and speeched delayed but

reading at 2 1/2, very visual person, but a very bright guys. Looks pretty

normal to most but off. Doesn't fit any done diagnoses but on the spectrum

some. I so want to know! I so wish I didn't have such grapy insurance.

Tammy

Re: OT/Crosspost: Klinefelter's Syndrome

-

Hi, my son is 2 years old and was prenatally diagosed with xxy.

Without the prenatal diagnosis, we would have no idea.

XXY can lead to some learning issues (mostly language based) and low

testosterone production, and usually infertility. Most men are taller

than average for their family.

There is a great site with support groups at www.genetic.org

My son has really benefited from enzyme and vitamin support,

particularly lipase, fish oil (EPA and DHA) and extra B vitamins. He

does seem to be a hair behind on language and he was a little slow to

walk. He is very visual and is a very bright boy. I have learned

about enzyme therapy and other learning delays as a preventative

measure, but most docs who have met him say without the prenatal

diagnose they would have no idea.

Your friend should have her son evaluated by an endocrinologist to

determine if he might have xxy.

On Mon, Sep 7, 2009 at 8:51 AM, lisa lally<tsbbcrw@...> wrote:

>

>

> Hi folks,I have a friend who told me today he brother (40's) has

> Klinefelter's Syndrome, and she suspects a possibility her 14 y/o son may

> have it as well. They didn't discover her brother had it until he was 18,

> and apparently this syndrome is very rare. I wanted to see if any of my

> autism pals had any experience or knowledge about this syndrome.Thanks!

>

>

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