Klinefelter syndrome is the most common sex chromosomal aneuploidy in males. It is well known that patients with this syndrome have greater mortality and morbidity compared to the general population due to cardiovascular diseases and endocrine metabolism disorders. This augmented risk is due both to hypogonadism and to the syndrome itself. Therefore, correct hormonal replacement therapy and early primary prevention are crucial to these patients. Even though different studies are available on this topic in adult patients, only a few authors have focused on the paediatric population. Thus, in this narrative review, we report the current knowledge of metabolic and nutritional aspects in children with Klinefelter syndrome.
Keywords: Klinefelter syndrome; body composition; bone metabolism; cardiovascular risk; children; diabetes; hormonal replacement therapy; hypogonadism; metabolic syndrome.