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Tests and diagnosis
By Mayo Clinic staffIf your son has problems with growth, coordination, strength or learning — or you're an adult male having trouble fathering a child — the doctor may recommend tests to check for Klinefelter syndrome. If you or your child is diagnosed with Klinefelter syndrome, early treatment with teststerone therapy can help prevent problems.
Tests used to diagnose Klinefelter syndrome include:
- A thorough physical examination. This includes carefully examining the genital area and chest and giving tests to check reflexes and mental functioning. The doctor may ask questions about other medical conditions, health problems that run in your family, growth, development and sexual function.
- 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 is the most accurate test used to diagnose Klinefelter syndrome. Results usually aren't available for several weeks. This analysis is necessary 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.
- Klinefelter syndrome. National Institutes of Health. http://www.nichd.nih.gov/health/topics/klinefelter_syndrome.cfm. Accessed Feb. 19, 2008.
- Klinefelter syndrome. Madison's Foundation. http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,195/. Accessed Feb. 19, 2008.
- Lanfranko F, et al. Klinefelter's syndrome. The Lancet. 2004;364(9430):273-283
- Bojesen A, et al. Klinefelter syndrome in clinical practice. Nature Clinical Practice Urology. 2007;4(4):192-193.
- Klinefelter syndrome. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition=klinefeltersyndrome. Accessed Feb. 26, 2008.
- Klinefelter (XXY) syndrome. California Department of Developmental Services. http://www.ddhealthinfo.org/coursebuilder/?id=25. Accessed Feb. 19, 2008.
