Klinefelter syndrome

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Tests and diagnosis

By Mayo Clinic staff

As part of a physical examination, your doctor will likely examine your (or your son's) genital area and chest and may do tests to check reflexes and mental functioning.

The main tests used to diagnose Klinefelter syndrome are:

  • Hormone testing. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. The doctor may take samples to be evaluated in the lab.
  • Chromosome analysis. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. It's usually done by taking a blood sample for laboratory examination to check the shape and number of chromosomes.
Treatments and drugs Preparing for your appointment
References
  1. Bock R. Understanding Klinefelter syndrome: A guide for XXY males and their families. National Institute of Child Health & Human Development. http://www.nichd.nih.gov/publications/pubs/klinefelter.cfm. Accessed Aug. 30, 2010.
  2. Zeger M, et al. Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. Journal of Pediatrics. 2008;152:716.
  3. Klinefelter syndrome. Genetics Home Reference. http://www.ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed Aug. 30, 2010.
  4. Klinefelter syndrome. National Institute of Child Health & Human Development. http://www.nichd.nih.gov/health/topics/klinefelter_syndrome.cfm. Accessed Aug. 30, 2010.
  5. Ramasamy R, et al. Successful fertility treatment for Klinefelter's syndrome. Journal of Urology. 2009;182:1108.
  6. Radicioni AF, et al. Strategies and advantages of early diagnosis in Klinefelter's syndrome. Molecular Human Reproduction. 2010;16:434.
  7. Bruining H, et al. Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics. 2009;123:e865.
  8. Sex chromosome anomalies. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch294/ch294g.html. Accessed Sept. 23, 2010.
  9. Wattendorf DJ, et al. Klinefelter syndrome. American Family Physician. 2005;72:2259.
  10. Klinefelter syndrome. The Hormone Foundation. http://www.hormone.org/upload/Klinefelter-Bilingual-WEB.pdf. Accessed Aug. 30, 2010.
  11. Learning about Klinefelter syndrome. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19519068. Accessed Aug. 30, 2010.
  12. Snyder PJ. Causes of primary hypogonadism in males. http://www.uptodate.com/home/index.html. Accessed Aug. 30, 2010.
DS01057 Oct. 28, 2010

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