47, XXY

Common Name(s)

47, XXY, 47, XXY Intersex, 47, XXY Female

47, XXY refers to the presence of an additional X chromosome in a person's body cells. Some individuals with a 47, XXY chromosome finding do not appear different from other individuals, and they may have mild symptoms or no apparent symptoms. During the first few years of life, most 47, XXY males do not show any obvious differences from typical male infants and young boys. Children may have slightly weaker muscles, delayed development of motor skills, and learning and/or language problems. In later adolescence and adulthood, 47, XXY males can have features of Klinefelter syndrome, which can include primary hypogonadism (decreased testosterone production), small testes, enlarged breast tissue (gynecomastia), tall stature, and/or other features. Although the vast majority of individuals with 47, XXY identify as males, some develop atypical gender identities. There have been reports of individuals with 47, XXY having a female physical appearance, but in most cases this was attributed to changes in specific genes related to sexual development. Most 47, XXY males are infertile, but many produce sperm and may be able to conceive with assisted reproduction. Treatment varies among individuals and may include testosterone therapy; however, this therapy may not be appropriate for all individuals.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "47, XXY" for support, advocacy or research.

Beyond XXY, Inc.

Beyond XXY,Inc., is a U.S. nonprofit support, information, and advocacy organization. Our mission is to be a resource for the health and welfare of 47, XXYs and variants.

Last Updated: 22 Aug 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "47, XXY" for support, advocacy or research.

Beyond XXY, Inc.

Beyond XXY,Inc., is a U.S. nonprofit support, information, and advocacy organization. Our mission is to be a resource for the health and welfare of 47, XXYs and variants.

http://xxyintersex.com/index.html

Last Updated: 22 Aug 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "47, XXY" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "47, XXY" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome
 

Status: Recruiting

Condition Summary: Klinefelter Syndrome; XXY Syndrome

 

Last Updated: 1 Dec 2014

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Fertility Preservation in Cases of Klinefelter Syndrome.
 

Status: Recruiting

Condition Summary: Klinefelter Syndrome

 

Last Updated: 15 Jan 2014

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Subcapsular Orchiectomy in Men With Klinefelter Syndrome
 

Status: Recruiting

Condition Summary: Klinefelter Syndrome

 

Last Updated: 13 Dec 2012

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