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Diseases

Genetic and Rare Diseases Information Center (GARD)

47, XXY

*

* Not a rare disease

Other Names for this Disease
  • 47 XXY
  • XXY trisomy
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Overview

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

References

  1. Klinefelter Syndrome: Condition Information. NICHD. November 15, 2013; http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/Default.aspx. Accessed 4/14/2015.
  2. 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.
  3. 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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In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss 47, XXY. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 47 XXY
  • XXY trisomy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.