4Diagnosis
The karyotype is the only way to diagnose Klinefelter syndrome conclusively. This is a genetic test that requires a blood or skin sample for lab analysis. The results can indicate whether there is an extra X chromosome. Some learning issues can be early signs to help parents find out the presence of this disorder in their children. In male adults, infertility can be a possible symptom. During puberty, a physical exam of the testes and chest can help find out some physical symptoms like enlarged breasts and small testes. Further tests can be done to check for reduced testosterone or reduced sperm counts. In fact, many people with Klinefelter syndrome remain undiagnosed until the mid-30s. [4]
