Diagnosis – Children

Your child is very lucky to have been diagnosed early in life as 75% are never diagnosed. Early diagnosis, appropriate support and a healthy lifestyle can make a huge difference!

Klinefelter’s Syndrome is difficult to recognise in children as most of the better known symptoms occur only after puberty – sparse body hair, lack of muscle etc.

The Klinefelter’s Syndrome Association is working to raise the profile of the condition generally but within the medical profession in particular.

If KS is suspected a GP should arrange a genetic blood test which looks at the pattern of the chromosomes (karyotype). He may want a second test to check if all the cells are 47, XXY as sometimes not all cells are affected. This is known as a mosaic which has a typical karyotype 46 XY/47 XXY. Symptoms may be even less obvious if there is a mosaic.

Next… ‘Trigger’ Times for Diagnosis