XXY Klinefelter’s Syndrome

The doctor tells me that Klinefelter’s Syndrome is the underlying reason for my son’s autism.  He has an extra X chromosome.  Because of it he’ll probably have low testosterone and be prone to diseases that normally only women get, like breast cancer.

From www.aaksis.org

It is desirable to establish the diagnosis of KS as early as possible. This will direct the observation of parents to learning disabilities and behavioral abnormalities, which require remedial action.  Attention should be paid to the possibility of complications, and screening tests should be ordered.   In adolescence testosterone replacement should be initiated, as soon as gonadotropin levels increase above normal.  Testosterone doses must be advanced over years with yearly increments, imitating the increase in testosterone production that occurs during normal puberty.  Testosterone not only will advance virilization and support development of adequate bone mineralization, it also can improve fatigue, muscle strength, academic performance and further social adjustment.

It’s somewhat rare, I’ve read 1 in 500, or 1 in 650 males are diagnosed with Klinefelter’s Syndrome.  And then “approximately one in ten (about 10%) of people with Klinefelter syndrome will have a diagnosis of an autism spectrum disorder. Many more will show features of speech and language delay, social withdrawal, delays in learning how to read, and a variety of other neurodevelopmental disorders.”

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