How Is Klinefelter’s Syndrome Diagnosed?

Klinefelter’s Syndrome is relatively unknown to the general public at large, so it is not usually included in the battery of tests that physicians perform on unborn babies. In general, a parent must request for the test to be conducted, unless they themselves have the condition.

In unborn male babies, Klinefelter’s is usually diagnosed via antenatal screenings that were originally performed for something else. For example, if a screening test shows that a child has an increased risk of having Trisomy 18, then the mother will most likely go on to have an additional test called amniocentesis. With this test, a small sample of amniotic fluid is extracted from the uterus. With this sample, a karyotype test is then done with the amniotic fluid sample can show if a baby has Klinefelter’s Syndrome.

In children and adolescent males, a patient will usually be tested for this condition if they display any of the following symptoms:

  • A delay in the age of first walking.
  • Dyspraxia
  • Speech and language delay or difficulties.
  • Attention problems.
  • Mild learning disabilities.
  • Dyslexia or other reading difficulties
  • Behavioral problems – Male children with KS tend to be shyer and more immature when they are compared to their peers. Furthermore, they have lower levels of self-confidence.

Klinefelter’s Syndrome can also be diagnosed during the onset of puberty. Puberty may be noted as abnormal by a doctor, or it could be significantly delayed. Doctors will generally notice the signs and symptoms of Klinefelter’s when they examine a male patient. For example, they might notice that the testes are undersized, the development of breast tissue, or a low level of pubic hair for the patient’s age. The next step will be for the doctor to suggest a karyotype test.

For grown males, Klinefelter’s is generally diagnosed when a man seeks out treatment for infertility issues. As with younger males, the diagnosis will be confirmed through the karyotype test. A small sample of blood will be taken from the patient and then analyzed, with special attention being paid to the chromosomes. The test will reveal if an extra X chromosome exists.

If a doctor suspects that a patient has KS, then additional blood tests, besides the karyotype test, will be performed. One example is a semen count test. Additional blood tests that will be performed to check a man’s hormone levels include tests for:

  • Testosterone
  • The luteinizing hormone
  • The follicle stimulating hormone Estradiol (a form of estrogen)

The samples taken for these tests will then be analyzed in a lab. After a diagnosis has been confirmed, a physician will more than likely refer their patient to an endocrinologist, who will develop a treatment plan for the patient. Klinefelter’s Syndrome manifests itself differently in each patient, including the severity of the symptoms occurring. Therefore, individual treatment plans must be developed for each patient. It is a condition that can be treated, and many patients respond well to medical intervention.