48,XXYY Syndrome

What is 48,XXYY Syndrome?
48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. More information about 48,XXYY syndrome may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome

What is the prevalence of 48,XXYY Syndrome?
48,XXYY syndrome is estimated to affect 1 in 18,000 to 40,000 males.

How is 48,XXYY Syndrome diagnosed?
Diagnosing 48,XXYY requires a genetic test called a karyotype. The test is done by drawing blood and an analysis is done on the cells of the blood to determine the boy or man's chromosomal make-up.

Is there any specific gene/pathway in 48,XXYY Syndrome that has been identified?
48,XXYY syndrome results from the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY).

How is 48,XXYY Syndrome treated?
One common treatment for 48,XXYY Syndrome is testosterone replacement therapy. More information on treatment may be found here: https://rarediseases.org/gard-rare-disease/48xxyy-syndrome/

Are there any clinical trials underway for 48,XXYY Syndrome?
The National Institutes of Health (NIH) has completed 0 clinical trials for 48,XXYY Syndrome. Currently, there are 2 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=48%2CXXYY+Syndrome&term=&cntry=&state=&city=&dist=&Search=Search

How can RareShare be helpful to 48,XXYY Syndrome patients and families?
The 48,XXYY Syndrome Rareshare community has 3 members. There is currently 1 active discussion underway. New discussions can help to connect patients, health workers, caregivers and families interested in 48,XXYY Syndrome and provide them continual access to community resources.