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:
June 25, 2013
- 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.
- Kliegman RM, et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed April 29, 2013.
- 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.
- Sokol RZ. It's not all about the testes: Medical issues in Klinefelter patients. Fertility and Sterility. 2012;98:261.
- 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.