How do doctors diagnose Klinefelter syndrome (KS)?

Symptoms of KS are often subtle. They can also look similar to other medical conditions. This can make KS more challenging for doctors to diagnose.

In many cases, doctors diagnose KS during or after puberty. Tests can include:

  • A physical examination
  • Genetic testing
  • Hormone testing (done through a blood sample)

KS can also be diagnosed prenatally (before birth). Tests can include:

  • Cell-free DNA testing
  • Chorionic villus sampling
  • Amniocentesis
Rev. 9/2018