Klinefelter’s syndrome is the symptoms of Seminiferous Tubule Dysgenesis, a disease of the testes that is associated with some degree of additional X genetic material in males.
In 1942 Dr Harry Fitch Klinefelter was requested by Dr Fuller Albright to prepare the notes of 9 men with hypergonadtropic hypogonadism who had features Dr Albright had not seen before in such consistency, the symptoms Dr Klinefelter described. Dr Klinefelter was allowed by Dr Albright to put his name first on the paper that was produced. The other doctor involved in the research was Dr E C Reifenstein, and I suppose since Dr’s Albright & Reifenstein already had diseases named after them they may have thought to let Dr Klinefelter have one named after him? To refer to those symptoms of disease as Klinefelter’s syndrome is accurate.
In 1959 Canadian researchers Jacobs and Strong examined one mans’ chromosomes with these symptoms and found he had an extra X chromosome. Previously the set of symptoms were described as Seminiferous Tubule Dysgenesis (Klinefelter’s syndrome),  proven by biopsy of the testes. After Jacobs and Strong’s report they became known simply as “Klinefelter’s syndrome,” and the illusion that XXY always results in Klinefelter’s syndrome, and is present from birth, was born.
If our karyotype was to be named after the discoverer of it we should be referred to as having “Jacobs and Strong syndrome.” However; in 1960 Geneticists world wide determined not to name new genetic conditions after the person who made the discovery, but by their genetic signature. Jacobs and Strong also discovered XYY (1960.) Naming XXY and XYY with the same name would be problematic.
“1959 – Jacobs and Strong find an XXY male – Kleinfelter’s syndrome”
What they actually discovered was that their subject with Klinefelter’s syndrome had an extra X chromosome. It is assumed that all men with Klinefelter’s syndrome have a complete additional X. In reality even just a repeat copy of genes on the 1 X in an XY man can lead to the development of Klinefelter’s syndrome, the symptoms of seminiferous tubule dysgenesis, as can numerous other genetic aneuploidies involving more than 1 X chromosome in males, such as XXXY, XXXXY, and XY/XXY mosaics, and XX males with no Y chromosome.
The symptoms of disease Dr Klinefelter described cannot manifest until after the onset of puberty. Do not manifest all at once, immediately. They can take many years of hypergonadtropic hypogonadism with no therapy to manifest in full. I have never seen a baby boy with any features Dr Klinefelter described, and I think even he (Dr Klinefelter) would have difficulty accepting baby boys do have Klinefelter’s syndrome.
Both these men are treated for Klinefelter’s syndrome, the younger being skinny, and the older being obese. The young man represents the lack of musculature an XXY teen is likely to have, and the older man represents the fat distribution that is likely to occur in a man with untreated seminiferous tubule dysgenesis for many years. They both have hair distribution as can be expected in any teenage boy at the start of puberty, giving a good indication of where their puberty stalled.
Baby XXY boys do not look like either of these two. Baby XXY boys do not have Klinefelter’s syndrome. If they’re treated properly they may never develop Klinefelter’s syndrome!
Over the years since 1959 a great many studies to determine the incidence of XXY have been undertaken in new born infants, and many of these boys have been followed longitudinally. As each new discovery is made about these XXY boys, and the effect of the additional X in their lives, those discoveries are added to the definition of what Klinefelter’s syndrome is,
without any consideration given that the symptoms of disease Dr Klinefelter described do not even exist.
These XXY boys are just assumed to have Klinefelter’s syndrome. Their parents and teachers are told they have Klinefelter’s syndrome, which of course has disastrous consequences after conception if the mother is of an age where genetic testing is advised, and she is informed of the abortion option. I’m told abortion is regularly offered to women carrying an XXY foetus, although all my attempts to have this information confirmed has been met with complete silence. Both the pro abortionists and the anti abortionists do not want to discuss the matter. I’d like to have links here, but there are none.
However; there is an implication that abortion is regularly offered by Dr Shirley Ratcliffe, in the 1999 report “Long term outcome in children of sex chromosome abnormalities”
“An unduly pessimistic description of what it
means to have an extra X or Y chromosome is
frequently given to the parents of an affected
fetus or child by geneticists and paediatricians
because the source of their information has
been biased towards abnormality…..”
Klinefelter’s syndrome is an abnormality, that with proper therapy ought never be allowed to develop. I know that will require a lot of effort as this man proves, he didn’t discover he had Klinefelter’s syndrome until he was determined to be infertile, yet has all the bodily proportions of the older man above, and he is nowhere near as old. Therefore more effort by Primary Physicians, or G.P.’s needs to be done.
In this modern age this man should never have been allowed to go for so long, without a proper medical examination, that involved palpation of the testes, in his teens.
Have I described anywhere your XXY foetus or XXY baby boy?