Hi!

Dr. Robinson is the only doctor with his team in the US who has done a karyotyping and a longitudinal study of children born with sex chromosomal anomalies.  He is in Colorado.  I quote from the NIH pamphlet on "A Guide for XXY Males and their Families":

"I never refer to newborn babies as having Klinefelter's, because they don't have a syndrome," said Arthur Robinson, M.D., a pediatrician at the University of Colorado Medical School in Denver and the director of the NICHD-sponsored study of XXYs.   "Presumably, some of them will grow up to develop the syndrome Dr. Klinefelter described, but a lot of them won't."

Klinefelter syndrome is a specific form of male hypogonadism, an endocrine disease that is the result of insufficient testosterone.  There are even a few cases of men with Klinefelter syndrome who are XY in the literature.

XXY (or variants) is the chromosomal anomaly the boys are born with.  There is no way a prepubertal male can have Klinefelter syndrome as this specific syndrome can only occur in puberty.   XXYs, because of the small testes most have (My son is a mosaic and he does not have these.   In fact, we are learning not all XXYs have abnormally small testes.), are at risk to develop Klinefelter syndrome.  We also know XXYs are at risk for a list of other diseases, syndromes, and conditions.  But not all will develop any or all of these syndromes, etc.

We are now seeing a major shift in genetic terminology.   It is no longer preferred to refer to Trisomy 21 as Down's syndrome.   One reason is a lot of advancement in interventions and treatments have brought us to the point where not all people with Trisomy 21 develop enough features of Down's syndrome to be considered as having the syndrome.

There is now a major push to identify anomalies by the chromosomal arrangements instead of any of the possible resulting diseases and conditions.   This is important for insurance.   Many insurance companies will deny a baby or young child insurance when they see the dx of Klinefelter syndrome.  Yet, when we work with these families and doctors, helping them to understand that what they are reading about Klinefelter syndrome may never happen, and that the baby or child certainly does not have this disease now but is only an XXY male, in 100 percent of the cases I have worked with, we have won.

At the Alliance of Genetic Support Groups meeting last year, the geneticists all pushed this concept of how important it is to understand that a genetic anomaly may predispose someone to a disease but there is no guarantee they will get it in this day or age.  They were vocal to say that it is unnecessary for families, insurance companies, and individuals to assume they have the disease with such a fatalistic attitude.

It is the same with Turner's syndrome, an endocrinological condition only females have.   Those who are born XO are susceptible to this, but I can tell you that not all women who are XO have Turner's syndrome, and not all are dxed.  I have a report of three women, a mom and 2 sisters being identified at NIH for the first time, and that by accident.   None had Turner's syndrome, and yet they were all XO/XX mosaic. Then, there are men who are XO/XY mosaic.   They cannot possibly have Turner's syndrome.

So we have been learning from cutting edge geneticists that the best practice is identifying newborns and individuals with the anomaly not any of the resulting diseases, conditions, or syndromes to which they may be at a more increased risk to develop.  Again, this is life saving in the area of insurance.

This is what they are trying to educate the rest of the medical community on -- I admit here in the South it is really slow to make the changes.

I only know a lot of this because I have been fortunate enough to have the opportunity to sit on genetic boards and councils and to meet with, hear from, and talk with some of the leading geneticists in the country.   At one time, I did not know or understand the difference.  But now that I see the great damage the medical community does to individuals by not knowing or understanding the difference, the more passionate I become about educating them.

There are NO standard predictions that can be made about XXY or variants.  ALL they ALL have in common is extra sex chromosomes, and even that varies as some have mosaicism and some have more chromosomes than others.  Nothing else affects every one of them.

Anyway, you tell a pregnant mom her child does not have Klinefelter syndrome and you explain all of this and you can hear the change in her voice.   She has great hope!  Gone are the visions of the pictures of Klinefelter syndrome that danced in her head and gave her nightmares!  And they write and call us and tell us they are keeping their babies and they never regret it.

There are no guarantees that an early dx or early interventions will work or that an XXY will have no problems whatsoever.   But then, with what child is there one?

Enjoy your son as your son first.   That is who and what he is that is of the most importance.

Regards!

Carol