Monday, February 24, 2014

Here are a few very helpful articles for anyone curious about Klinefelter Syndrome- and these articles are where I found most of the information in this blog

  • http://ghr.nlm.nih.gov/condition/klinefelter-syndrome
  • https://www.genome.gov/19519068
  • http://www.genetic.org/Knowledge/WhatareXamp;YChromosomeVariations/Tellmeabout47,XXY.aspx
  • http://learn.genetics.utah.edu/content/disorders/chromosomal/klinefelter/
And a great, very informational book is

  • http://www.barnesandnoble.com/listing/2691275438421?r=1&cm_mmca2=pla&cm_mmc=GooglePLA-_-Book_25To44-_-Q000000633-_-2691275438421
So, what can you do to help? Many men suffering from Klinefelter Syndrome don't know it- and may go years before knowing. And since early treatment helps a lot with the symptoms of this disease, one of the best things to do is just to get information out there. 

Sunday, February 23, 2014

Klinefelter syndrome is neither dominant nor recessive- it is the result of a gamete with 2 sex chromosomes being paired with a gamete with only one. To find out if someone has Klinefelter syndrome doctors will ask questions about their health, and order a genetic test called a karyotype.

http://youtu.be/c9ne4Cwy9T4

This is a wonderful video for anyone who is just learning about Klinefelter syndrome.
This picture illustrates some common symptoms of Klinefelter syndrome. 

This picture shows the chromosome responsible for Klinefelter Syndrome



Thursday, February 20, 2014

Some great websites for people with Klinefelter Syndrome:

  • www.klinefeltersyndrome.org
    • This web site has personal testimonials and support groups
  • http://www.aaksis.org/
    • The American Association for Klinefelter Syndrome Information and Support
    • This website has regional support groups and organizes meet-ups.
  • klinefelter.jhu.edu
    • The John Hopkins Klinefelter Clinic strives to be the premier center for the clinical care for men 
    • who suffer from sex chromosomal disorders
  • xxytalk.com
    • xxytalk.com hosts international forums for people with Klinefelter Syndrome
    • and their friends and family
  • www.ksa-uk.net/links
    • The Uk Klinefelter Syndrome Association works to raise awareness of Klinefelter Syndrome and 
    • provides help to all those affected 

Wednesday, February 19, 2014

Living with Klinefelter Syndrome- Prognosis

Men with Klinefelter Syndrome generally live fairly normal lives. If diagnosed early, and treated with testosterone replacement, many men can have symptoms lessen. But, this treatment must be lifelong, and the increased testosterone has no effect on fertility- and so even with treatment, a vast majority of men with KS cannot father children. Though most people with KS have normal intelligence, they can also have issues with language development and social development- especially since boys with KS are often less self confident and less active, so this can lead to feelings of loneliness. Most men afflicted with Klinefelter Syndrome achieve full independence from their families in adulthood. There is some research stipulating that the syndrome can lead to a lesser lifespan, since men with KS are more likely to suffer from Cardiovascular disease or Diabetes.

Tuesday, February 18, 2014

Symptoms of Klinefelter Syndrome

     Many men with Klinefelter syndrome do not have obvious symptoms- the manifestation of symptoms often depends on the amount of testosterone produced in the body. The earlier symptoms are detected and treated, the less pronounced they will when the body reaches adulthood. Symptoms include:


  • At 5 years old, boys with Klinefelter syndrome begin to show symptoms- they are often taller, clumsier, fatter around the stomach, and slower to develop motor skills than their peers.
  • When boys with KS reach puberty, more dramatic changes start to show. They will have smaller testes and penis, less facial hair, and a weaker sex drive than others without KS.
  • As adults, men with KS have issues with fertility, breast growth, and smaller genitals.





Sunday, February 16, 2014

What is Klinefelter Syndrome?


    Klinefelter sydrome is a chromosomal condition that effects the physical and mental development of about 1 in 500 to 1000 live male births. But there is some speculation as the whether or not those statistics are accurate- as many researchers posit that mild cases of this genetic disorder go undiagnosed. Other forms of the disease are rarer- and may only occur in about 1 in 50,000 live male births.

    Klinefelter syndrome, also known as the XXY condition, bears the name of German-born doctor Harry Klinefelter, who first described the disease in 1942 while researching alongside Fuller Albright in a hospital in Boston, Massachusetts.



                                                                                             Harry Klinefelter