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[Klinefelter syndrome: Advances in research].

Klinefelter syndrome (KS) is a most common chromosome abnormality and frequently leads to male infertility. In recent years, deeper insights have been gained into the treatment of KS in children, clinical manifestations of KS, as well as reproductive problems and pre- and postnatal screening of the disease. This article presents an overview of the epidemiology, clinical manifestations, pathophysiological mechanism, laboratory examination, drug therapy and application of assisted reproductive technology, and KS screening, aiming to provide some reference for KS-related clinical practice.