Klinefelter Syndrome: Test and Diagnosis

1st order laboratory parameters – obligatory laboratory tests.

  • FSH [↑↑↑]
  • LH [elevated LH levels correlate with decreased testosterone; however, these often remained elevated even after testosterone levels normalized]
  • Testosterone (determination in the morning) [normal or ↓]
  • Rapid cytology (detection of the Barr corpuscle corresponding to the inactivated supernumerary X chromosome; sensitivity (percentage of diseased patients in whom the disease is detected by the use of the test, i.e., a positive test result occurs) 82%; specificity (probability that actually healthy individuals who do not have the disease in question are also detected as healthy in the test) 95%) or chromosomal analysis (karyotype determination in peripheral leukocytes/white blood cells).
  • Small blood count [detection of mild anemia due to testosterone deficiency].
  • If necessary, estradiol
  • If necessary, spermiogram (sperm examination) [90% of cases have azoospermia (absence of sperm].