Klinefelter's syndrome laboratory findings: Difference between revisions
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===Laboratory Findings=== | ===Laboratory Findings=== | ||
A [[karyotype]] is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. [[White blood cell]]s are then separated from the sample, mixed with [[Growth medium|tissue culture medium]], incubated, and checked for chromosomal abnormalities, such as an extra X chromosome. | *A [[karyotype]] is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. [[White blood cell]]s are then separated from the sample, mixed with [[Growth medium|tissue culture medium]], incubated, and checked for chromosomal abnormalities, such as an extra X chromosome. | ||
[[Image:Human chromosomesXXY01.png|350px|thumb|center|Klinefelter's syndrome karyotype]] | [[Image:Human chromosomesXXY01.png|350px|thumb|center|Klinefelter's syndrome karyotype]] | ||
The following tests may be performed: | *The following tests may be performed: | ||
*[[Semen]] count | **[[Semen]] count | ||
*[[Serum]] [[estradiol]] levels (a type of [[estrogen]]) | **[[Serum]] [[estradiol]] levels (a type of [[estrogen]]) | ||
*[[Serum]] [[follicle stimulating hormone]] | **[[Serum]] [[follicle stimulating hormone]] | ||
*[[Serum]] [[luteinizing hormone]] | **[[Serum]] [[luteinizing hormone]] | ||
*[[Serum]] [[testosterone]] | **[[Serum]] [[testosterone]] | ||
Diagnosis can also be made prenatally via [[chorionic villus sampling]] or [[amniocentesis]], tests in which fetal tissue is extracted and the fetal [[DNA]] is examined for genetic abnormalities. A 2002 literature review of elective [[abortion]] rates found that approximately 58% of pregnancies in the United States with a diagnosis of Klinefelter syndrome were terminated.<ref>Caroline Mansfield, Suellen Hopfer, Theresa M. Marteau (1999). "Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review". Prenatal Diagnosis 19 (9): 808–812. {{doi|10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B}}. [http://www3.interscience.wiley.com/cgi-bin/abstract/65500197/ABSTRACT interscience.wiley.com], PMID 10521836 This is similar to 90% results found by David W. Britt, Samantha T. Risinger, Virginia Miller, Mary K. Mans, Eric L. Krivchenia, Mark I. Evans (1999). "Determinants of parental decisions after the prenatal diagnosis of Down syndrome: Bringing in context". American Journal of Medical Genetics 93 (5): 410–416. {{doi|10.1002/1096-8628(20000828)93:5<410::AID-AJMG12>3.0.CO;2-F}}. PMID 10951466</ref> | *Diagnosis can also be made prenatally via [[chorionic villus sampling]] or [[amniocentesis]], tests in which fetal tissue is extracted and the fetal [[DNA]] is examined for genetic abnormalities. A 2002 literature review of elective [[abortion]] rates found that approximately 58% of pregnancies in the United States with a diagnosis of Klinefelter syndrome were terminated.<ref>Caroline Mansfield, Suellen Hopfer, Theresa M. Marteau (1999). "Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review". Prenatal Diagnosis 19 (9): 808–812. {{doi|10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B}}. [http://www3.interscience.wiley.com/cgi-bin/abstract/65500197/ABSTRACT interscience.wiley.com], PMID 10521836 This is similar to 90% results found by David W. Britt, Samantha T. Risinger, Virginia Miller, Mary K. Mans, Eric L. Krivchenia, Mark I. Evans (1999). "Determinants of parental decisions after the prenatal diagnosis of Down syndrome: Bringing in context". American Journal of Medical Genetics 93 (5): 410–416. {{doi|10.1002/1096-8628(20000828)93:5<410::AID-AJMG12>3.0.CO;2-F}}. PMID 10951466</ref> | ||
==References== | ==References== | ||
Revision as of 16:08, 14 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Laboratory Findings
- A karyotype is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome.
- The following tests may be performed:
- Semen count
- Serum estradiol levels (a type of estrogen)
- Serum follicle stimulating hormone
- Serum luteinizing hormone
- Serum testosterone
- Diagnosis can also be made prenatally via chorionic villus sampling or amniocentesis, tests in which fetal tissue is extracted and the fetal DNA is examined for genetic abnormalities. A 2002 literature review of elective abortion rates found that approximately 58% of pregnancies in the United States with a diagnosis of Klinefelter syndrome were terminated.[1]
References
- ↑ Caroline Mansfield, Suellen Hopfer, Theresa M. Marteau (1999). "Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review". Prenatal Diagnosis 19 (9): 808–812. doi:10.1002/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B. interscience.wiley.com, PMID 10521836 This is similar to 90% results found by David W. Britt, Samantha T. Risinger, Virginia Miller, Mary K. Mans, Eric L. Krivchenia, Mark I. Evans (1999). "Determinants of parental decisions after the prenatal diagnosis of Down syndrome: Bringing in context". American Journal of Medical Genetics 93 (5): 410–416. doi:10.1002/1096-8628(20000828)93:5<410::AID-AJMG12>3.0.CO;2-F. PMID 10951466