Men's health

Klinefelter syndrome. A diagnosis not to forget

Men's health

Klinefelter syndrome. A diagnosis not to forget

RITA UPRETI

Figures

XXY chromosoMes (scanning electron micrograph). © BIOPHOTO ASSOCIATES/SPL
XXY chromosoMes (scanning electron micrograph). © BIOPHOTO ASSOCIATES/SPL

Abstract

Klinefelter syndrome affects about one in 550 Australian men, but only half of those affected are ever diagnosed. It is an important cause of male infertility and hypogonadism, and diagnosis enables optimal treatment and outcomes for affected men.

Article Extract

Klinefelter syndrome (KS) is the most common chromosomal disorder in men. Almost 80 years after the clinical syndrome was described and 60 years since the genetic cause was identified,1 about 50% of men with KS remain undiagnosed throughout their lifetime.2