Tests and diagnosisBy 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.
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- Melmed S, et al. Williams Textbook of Endocrinology. 12th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/191205553-3/0/1555/0.html#. Accessed April 29, 2013.
- Wikstrom AM, et al. Klinefelter syndrome. Best Practice & Research Clinical Endocrinology & Metabolism. 2011;25:239.
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- Klinefelter syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed April 29, 2013.
- Klinefelter syndrome. National Institute of Child Health and Development. http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/Default.aspx. Accessed April 29, 2013.
- Learning about Klinefelter syndrome. National Human Genome Research Institute. http://www.genome.gov/19519068. Accessed April 29, 2013.
- Nippoldt TB (expert opinion). Mayo Clinic, Rochester, Minn. May 2, 2013.