Klinefelter's syndrome 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]

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