Klinefelter syndrome (47,XXY; KS) is still a diagnostic challenge. Many patients are misdiagnosed, or remain undiagnosed, and thereby prevention and treatment of associated comorbidities is often delayed. The presence of the additional X chromosome is associated with a number of health problems involving multiple organs and consequently are both morbidity and mortality significantly increased. The increased morbidity seen in KS is due to an increased risk of developing physical diseases such as diabetes, metabolic syndrome, obesity, cardiovascular disease, infections, osteoporosis, as well as psychiatric diseases. However, the degree of co-morbidity seen between KS patients display great heterogeneity. Recent studies in genetics indicate that global DNA methylation and RNA expression changes may play a central role for the phenotype. Recommendations for improving clinical practice, including neonatal KS screening programs, and a multidisciplinary approach to KS treatment will be discussed.
18 - 21 May 2019
European Society of Endocrinology