Klinefelter's Syndrome Diagnosis

Before birth

  • Prenatal testing by amniocentisis, CVS sampling or maternal blood can detect Klinefelter's Syndrome.

Post birth

  • During childhood - learning, behavioural and co-ordination difficulties.
  • At adolescence – delayed, slow or no puberty when expected, long limbs.
  • Adult males - small undeveloped testes (1-4ml) after puberty, breast development

A KS diagnosis is confirmed by a karotype blood test that checks the number and structure of chromosomes in cells as well as hormone blood testing for:

  • Testosterone
  • Luteinizing hormone (LH)
  • Follicle stimulating hormone (FSH)

For a detailed summary of KS and diagnosis see the Andrology Australia Klinefelter's Syndrome Fact Sheet

See your doctor

Download the Understanding Klinefelter Syndrome booklet

See your doctor