Introduction: From a disabling condition to a variant of normalcy

Abstract

The phenotype of Klinefelter patients can be very different from one subject to another. In fact, patients may have clear signs and symptoms related to chromosomal alteration or very little in some cases. Accordingly, it is common for the majority of them to remain undiagnosed or to have a late diagnosis during medical care for hypogonadism, couple infertility, or sexual problems. Therefore, each patient should be individually investigated to get a tailored treatment and follow-up. Moreover, the final judgement on the state of health of patients should not be based on the syndrome but on the individual condition. In the light of these considerations and because any subject with no chromosomal alteration may complain of the same problems, Klinefelter condition should be considered a variant of normalcy more than a disability.