Strategies and advantages of early diagnosis in Klinefelter's syndrome

Nearly 70 years after its description, Klinefelter's syndrome (KS) remains a largely undiagnosed condition. In addition to its typical characteristics of increased follicle-stimulating hormone secretion and small and firm testes, the syndrome presents an extremely wide spectrum of phenotypes. This could be explained by the possible presence of chromosomal mosaicism, androgen receptor polymorphisms and related heterogeneous endocrine abnormalities. The varied but relatively mild physical abnormalities also explain why many patients do not receive clinical attention until adulthood, when they seek medical advice on small testes or infertility. Diagnosis is also hindered by the low awareness of the disease among health professionals. This paper aims to review the possible signs of KS at different stages of life that could help achieve an early (or at least earlier) diagnosis. It has been demonstrated that the early diagnosis of KS improves patients' quality of life and enables better medical treatment. To achieve this, it is crucial to increase both medical and general awareness of the disease, includingthrough use of the media and patients' associations. © The Author 2010. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology