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Klinefelter Syndrome

 

Alliance for Genetic Support Groups

American with Disabilities Act

 Council for Disability Rights

 


KS  SOURCES OF INFORMATION 

"Dr. Harry Klinefelter, discovered between 1942-1949 that certain
types of men seemed to have  certain types of physical problems.
The men were taller than average (at least 6 feet tall), had 
'hypo-gonads' (smaller than usual) and were sterile (unable to
impregnate women).  It wasn't until 1959 that a blood test known as a
KARYO-TYPE was developed that could detect  Klinefelters
Syndrome. 

1. MAN, WOMAN & BOY, GIRL by Drs. John Money & Anke
Erhardt, Johns-Hopkins University Press, 1978. 
2. http://www.nih.nlm.gov/ 
3. http://homepages.ihug.co.nz/~nzkline/scs002.htm 

    Way back in 1942 a Dr Albright at the Massachusetts
    General Hospital in Boston U.S.A, had a Dr Harry
    Klinefelter gather together the case notes of 9 men who
    were tall, around about 6 feet, had little to no facial and
    body hair, had gynecomastia (breast development) were
    infertile and had extremely small testes, and a rather
    "pear shaped" body in the sort of fashion a woman might

    have. Dr Klinefelter was either the most junior Dr
    present or near to being the most junior. Dr 
    Albright was the leader of the team and allowed Dr
    Klinefelter's name to be first on the report 
    they and others published about these physical features
    of a disease that had no other name, so as 
    with tradition the symptoms became known as
    "Klinefelter's Syndrome", after the surname of the 
    first person whose name appeared on the report. 

    Excerpt from "XYY Males, an Orientation" by Johannes
    Nielsen 

    "Since 1960 geneticists have given new names to 
    chromosome aberrations from the chromosome
    constitution 
    and not as previously from the name of the person who 
    first described the chromosome aberration."
 

4. http://homepages.ihug.co.nz/~nzkline/robinson.htm 
    1995 Scientific Report 
    Arthur Robinson, M.D. 
    HUMAN GENETICS AND CYTOGENETICS 
    Mary Linden, M.S. 
    Research Associate 

The Denver Study of individuals with sex chromosome
abnormalities (SCA) was the first to screen a large number of
consecutive newborns for SCA and to follow them prospectively. 
Now in its 31st year of NIH funding, this study continues to
document the developmental prognosis of individuals with SCA 

   
  Hermaphrodites and the Medical Invention  of Sex
    by Alice Domurat Dreger, 268 pp, with illus, $35, ISBN
  0-674-08927-8, Cambridge, Mass, 
Harvard University  Press, 1998.

http://jama.ama-assn.org/issues/v281n12/ffull/jbk0324-2.html
The International Olympic Committee (IOC) in our
dimorphic (two-sex only) world mandates for all women competitors a buccal smear for XY chromosomes (rather than for each to appear nude before a panel of doctors). In 1992, DNA tests were used instead and criticized as  being too sensitive. Several renowned geneticists protest all such sex testing as absurd and discriminatory because
 there is so wide a spectrum of existing intersex conditions.
 It has been said (unverified because the IOC claimed  confidentiality of records) that 1:500 women were  disqualified in this way from the 1996 Olympic Games.   The impact on the lives of the athletes involved remains an  untold story. The IOC goal is to eliminate unfairness, eg,   female impersonators or transsexuals. The International  Amateur Athletic Federation (IAAF) favors a physical
 examination report by the woman athlete's own physician,
 but spot-check examinations may be done by IAAF
 physicians.
   
  REVIEWER
AUTHOR/ARTICLE INFORMATION
 Domeena C. Renshaw, MD,  Loyola University Medical Center Maywood, Ill

 REFERENCES
 1. King LR. Urological Surgery in Infants and Children.Philadelphia, Pa: WB Saunders Co;1998. 

Edited by Harriet S. Meyer, MD, Contributing Editor; Jonathan D. Eldredge, MLS, PhD, University of New Mexico, Health Sciences Center Library, Journal Review Editor; adviser for new media, Robert Hogan, MD, San  Diego.

 

   
  IOC TESTING

Later, another test known as a BASAL SMEAR could detect the presence of two X (XX)  chromatins. As told to me by a Endocrinologist at USC-LAC in Sept. of 1977, when I was being tested. A Kariotype at UCLA Cytogenetic Lab in 1994 results were XXY/XX (90%/10%)

http://www.anatomy.uq.edu.au/histology/contents/oral1/index.html
The buccal mucosa is a lining type of oral  mucosa.
 
 

It was used by the Olympics Commitee to determine if a female was  indeed a female. (in the days when the eastern bloc countries pumped male hormones into their  female athletes to have an unfair advantage over the other females representing other countries in  the Olympics.. It is still used today to do a quick test (90 minutes) to determine if the contestant is  genetically female or male. 
Athletes are still tested  to determine if they are using drugs. One thing athelets have done to enahnce their performance is to donate a pint of  blood to a blood bank, then on a regimine of 300 mg daily IRON and 12 ounces of Orange Juice, three times daily (the Vitamin C in the orange juice binds to the iron in ferrous sulfate) the body can increase the hematocrit by 8 points per day, creating a pint of blood in less t
han 3 weeks. So a few days before the olympics, the athlete has that store pint put back into him/her...A blood test known as a hematocrit can detect the percentage of  blood cells in the blood stream. 

 

   
    CLOTTING FACTORS
Normal males range is 42-47 to a high of 52. Anything over 54-57 is suspect. Females hematocrit range from 35 to 42 with a high of 47. Anything over 52-55 would be suspect.
A high hematocrit can be caused by either ChromosomaHematosis or an autologous blood transfusion. At that level or above, anticoagulants would be recomended to prevent blood clots within the veins and arteries. 

In 1988, I met some people in the blood donor room at Memroial Medicakl Center of Long Beach, Calif. 
They had 'ChromosomaHematosis' and the only treatment availabkle was for them to have a pint of blood drawn every 4-6 weeks to keep their hematocrit low enough to avoid the risk of  Venous blood clots..

 

   
     Those with Klinefelters Syndrome, in any genetic makeup (XXY, XXXY,XXXXXY) and those with Klinefelters Syndrome who are mosaic (XXY/XY or XXY/XX) can qualify as male AND female and should be able to compete in either catagory. (NOT EVER LIKELY)

    Some of those with KS (Klinefelter Syndrome) may not have all the male organs and some (even rarer) may even have some of the female reproductive organs.

[ subjective knowledge, learned via kidney problems and cystoscopic exam with retrograde pyelogram in 1973,  in which both sets (male and female) showed up on the xrays. Dr. Harold Schwartz (Marfans Syndrome, discoverer), was the last person I know who had those xrays.]
 

 

   
        KS occurs at an estimated ratio of 1 per 500 to 1 per 1000 live male births,where as hermaphroditism occurs at an estimated ratio of 1 per 2,000 live births. 96% of all KS males will be male. Roughly 4% may be mosaic (XXY/XY or (XXY/XX). Of thoat 4% group, some might be intersexed. "

[Dr. Arturo Robinson from a double blind study done in Denver, CO. A couple years ago. I learned of this thru the XXY listserv. To join the group, you have to have XXY or a relative has to have XXY.]

 

   
  Histology 
http://www.anatomy.uq.edu.au/histology/

Cytogenetics 
http://www.selu.com/bio/cyto/human/ 
http://www.selu.com/bio/cyto/human/HSA550.gif 

http://www.pathology.washington.edu/Cytogallery/ 
Table of karyotypes and spreads (normal humans) 
http://www.pathology.washington.edu/Cytogallery/Index_links/kline.html

Department of Pathology Univ. Wash. Genome Machine 
http://www.pathology.washington.edu/cytopages/GM/

Later, another test known as a BASAL SMEAR could detect the
presence of two X (XX)  chromatins. As told to me by a
Endocrinologist at USC-LAC in Sept. of 1977, when I was being
tested. A Kariotype at UCLA Cytogenetic Lab in 1994 results were
XXY/XX (90%/10%) 

http://www.anatomy.uq.edu.au/histology/contents/oral1/index.html 
The buccal mucosa is a lining type of oral  mucosa. 

It was used by the Olympics Commitee to determine if a female was 
indeed a female. (in the days when the eastern bloc countries pumped
male hormones into their  female athletes to have an unfair advantage
over the other females representing other countries in  the Olympics..
It is still used today to do a quick test (90 minutes) to determine if the
contestant is  genetically female or male. 
Athletes are still tested  to determine if they are using drugs. One
thing athelets have done to enahnce their performance is to donate a
pint of  blood to a blood bank, then on a regimine of 300 mg daily
IRON and 12 ounces of Orange Juice, three times daily (the Vitamin
C in the orange juice binds to the iron in ferrous sulfate) the body can
increase the hematocrit by 8 points per day, creating a pint of blood
in less than 3 weeks. So a few days before the olympics, the athlete
has that store pint put back into him/her...A blood test known as a
hematocrit can detect the percentage of  blood cells in the blood
stream. 

Normal males range is 42-47 to a high of 52. Anything over 54-57 is
suspect. Females hematocrit range from 35 to 42 with a high of 47.
Anything over 52-55 would be suspect. 
A high hematocrit can be caused by either Chromosomahematosis
or an autologous blood transfusion. At that level or above,
anticoagulants would be recommended to prevent blood clots within
the veins and arteries. 

In 1988, I met some people in the blood donor room at Memorial
Medical Center of Long Beach, Calif. 
They had 'ChromosomaHematosis' and the only treatment available
was for them to have a pint of blood drawn every 4-6 weeks to keep
their hematocrit low enough to avoid the risk of intravenous blood
clots..
    Those with Klinefelters Syndrome, in any genetic makeup (XXY,
XXXY,XXXXXY) and those with Klinefelters Syndrome who are
mosaic (XXY/XY or XXY/XX) can qualify as male AND female and
should be able to compete in either catagory. 

    Some of those with KS (Klinefelters Syndrome) may not have all
the male organs and some (even rarer) may even have some of the
female reproductive organs. 

[ subjective knowledge, learned via kidney problems and cystoscopic
exam with retrograde pyleogram in 1973,  in which both sets (male
and female) showed up on the x-rays. Dr. Harold Schwartz (Marfans
Syndrome, discoverer), was the last person I know who had those
xrays.] 

KS occurs at an estimated ratio of 1 per 500 to 1 per 1000 live
male births, where as hermaphroditism occurs at an estimated ratio of
1 per 2,000 live births. 96% of all KS males will be male. Roughly
4% may be mosaic (XXY/XY or (XXY/XX). Of that 4% group,
some might be Intersexed. " 

[Dr. Arturo Robinson from a double blind study done in Denver,
CO. A couple years ago. I learned of this thru the XXY listserv. To
join the group, you have to have XXY or a relative has to have
XXY.] 

There is more KS information at these URLs: 

http://www.2beornot2be.com/Chromosomes/ks1/

http://klinefeltersyndrome.org/index.html

http://www.globalwebsol.com/xxy/

E-MAIL LISTS TO TALK TO OTHERS:
bulletAAKSIS
bulletXXY+Adults Listserv
bulletXXY+Peds Listserv
bulletXXY List
bulletXXY Network Listserv
bulletXXYY Parent Network 
bulletKS/XXY Variants for Parents only 
bulletXXY-HB2 Listserv  (For alternative lifestyles only)
bulletKlinefelterXXY  (For XXY males 18 and over)
bulletXXY-NOY Listserv  (For mothers of XXY's only)
bulletXXY-NOY2 Listserv (For moms and/or dads only)
bulletXXY-Wives Listserv  (For wives and girlfriends of XXY's)
bulletXXYSIBS (For brothers and sisters of XXY's or variants)
bullet
Canadian XXY Listserv (For Canadian XXY's, parents and families, only)

 

LINKS TO  SUPPORT GROUP INFORMATION:
bulletBaltimore/Washington DC Metropolitan Area Group
bulletBayside, New York Support Group
bulletChicago/Midwest Regional Group
bulletNortheast Regional (Boston Area) Group
bulletPacific Northwest Regional Group
bulletPhiladelphia, Pennsylvania Group
bulletRocky Mountain Regional Group
bulletSalt Lake City Support Group
bulletSan Diego Area Support Group
bulletSoutheast Regional (Atlanta Area) Group
bullet
Staten Island, New York Support Group

 

Links on K.S.

Klinfelter Syndrome, Meet The People
Klinefelter Syndrome & Associates

Klinefelter Syndrome Information and Links
KS Links
Klinefelter Syndrome - A Parent's View
Klinefelter Syndrome Support
Understanding Klinefelter Syndrome

 

Links on this URL:  http://klinefeltersyndrome.org/index.html

ASSOCIATIONS AND ORGANIZATIONS:
bulletAAKSIS (American Association for Klinefelter Syndrome Information and Support) 
bulletAustralian Groups
bulletCanadian Klinefelter Syndrome Groups
bulletGerman Klinefelter Association
bulletKlinefelter Educational Support Team (KEST) 
bulletKlinefelter Syndrome and Associates
bulletKlinefelter Syndrome Association - UK
bulletKlinefelters Adult Group - UK for over 40 only
bulletKlinefelter Syndrome Club UK
bulletSwedish Klinefelter Association
bulletThe Turner Center (Denmark)
bullet XXY Network
bulletAmerican Association for Klinefelter Syndrome Information and Support (AAKSIS) - non-profit, volunteer organization dedicated to the XXY/Klinefelter Syndrome community.
bulletChromosomal Disorders - provides information about Klinefelters Syndrome, and the chromosome variations of K.S.
bulletKlinefelter Syndrome - A Parent's View
bulletKlinefelter Syndrome m - educational, non-profit organization dedicated to increasing public awareness about the condition. Includes newsletter, email support list and much more.
bulletKlinefelter Syndrome Support - support and educational information.
bulletKlinefelter's Syndrome Association (UK) - support group for KS children and their families as well as adults and their partners.
bulletNew Zealand Klinefelter Association - articles and information for XXY males.
bullet
Understanding Klinefelter Syndrome - a guide for XXY males and their families.