If anybody knows me they know I’m always on the look out for anything to do with XXY specifically, and symptoms of disease too if that’s all that’s available.
I found a report titled “An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome”
Is that along one or what!
I tried to write to Dr Ross but the email bounced, she no longer works where the address goes to, maybe she’ll see this?
Hello Dr Ross,
I just thought I’d let you know that reading your very long titled report is very annoying. Do you know that Klinefelter’s syndrome is the symptoms of disease? Not a disease in itself, and it doesn’t manifest until after puberty’s onset, if at all, in XXY boys. I have never seen an XXY boy who looks anything like the men Dr Klinefelter originally described, have you?
This report here is really well written:
as it refers to XXY and XYY and XXX children and young adults and it doesn’t assume they will automatically develop any syndrome. But you constantly refer to XXY boys as KS boys, which is really hard to read. I have to constantly remind myself ‘she means XXY’ every time I see KS. And that report above, it says XXY boys have normal testosterone level pre puberty, but yours doesn’t, it says the reverse.
” KS phenotype includes tall stature and characteristic cognitive attributes, but, in contrast to XYY, also includes childhood onset testicular failure.”
Did I mention, I’m treated for Klinefelter’s syndrome, and I don’t look like the classic Klinefelter man either. The symptoms of disease Dr Klinefelter et al described in 9 male adults seem to be rather extreme, probably why they were selected I expect? I bet Dr’s Albright, Reifenstein, Klinefelter had more candidates than the 9 they published the results of?
So every time I see KS I think of those long legged, long armed, fat, man boobed, hairless men, which I have never looked like and hope never will look like. So next time you write a report you can make it easier to read by only referring to KS when you’re actually dealing with teenagers and adults with those symptoms, and in all other instances as XXY males/men/boys indicative of their actual physical characteristics?
Now I know no report is ever going to represent exactly me, all 5’8″ of me, who else in the world is exactly like me? Most of us have XXY chromosomes and wide variability of effect. Yet according to you we all look like those 9 men originally described. If I can know not all XXY males are like me, how come you don’t know not all XXY men & boys look like the 9 men originally described?
And why don’t you refer to the XYY males as having Jacob syndrome? If you really want to be consistent you should right? And what’s the syndrome of the XXX females called?
Or do you think your nomenclature is of no importance?
Now I’ll try to read your report, again, oh it’s going to be a slog. Please think of me next time, not only researchers and doctors read SCA reports.
Thanks for all your efforts to help a us all understand more fully the effects of that pesky additional X genetic material, on our inactivated X.