47, XXY

Title

Not a rare disease

Other Names:

XXY trisomy; 47 XXY

Summary Summary

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.^[1] 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.^[2] Although the vast majority of individuals with 47, XXY identify as males, some develop atypical gender identities.^[1] 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.^[3] 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.^[1]

Last updated: 9/20/2013

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Research Research

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Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied 47, XXY. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

American Association for Klinefelter Syndrome Information and Support
3796 Odgen Lane.
Mundelein, IL 60060-6038
Toll-free: 888-466-5747
E-mail: KSinfo@aaksis.org
Website: http://www.aaksis.org
Association for X and Y Chromosome Variations (AXYS)
P.O. Box 861
Mendenhall, PA 19357
Toll-free: 888-999-9428
E-mail: info@genetic.org
Website: http://www.genetic.org
Chromosome Disorder Outreach
PO Box 724
Boca Raton, FL 33429
Telephone: 561-395-4252
E-mail: info@chromodisorder.org
Website: http://www.chromodisorder.org

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Learn More Learn More

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In-Depth Information

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Related Diseases Related Diseases

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References References

Klinefelter Syndrome: Condition Information. NICHD. November 15, 2013; http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/Default.aspx. Accessed 4/14/2015.
Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. February 15, 2013; 163C(1):55-63.
Lin B, Tan F, Xu H, Wang P, Tang Q, Zhu Y, Kong X, Hu L.. De novo structure variations of the Y chromosome in a 47,XXY female with ovarian failure: a case report.. Cytogenet Genome Res.. 2014; 143(4):221-4. http://www.ncbi.nlm.nih.gov/pubmed/?term=25227289. Accessed 4/17/2015.

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