Postnatal screening for Klinefelter syndrome: is there a rationale?

Abstract

Diagnosis of Klinefelter syndrome (KS) allows for timely beneficial interventions across the lifespan. Most cases currently remain undiagnosed because of low awareness of KS amongst health professionals, the hesitancy of men to seek medical attention and its variable clinical presentation. Given these barriers, population-based genetic screening provides an approach to comprehensive and early detection. We examine current evidence regarding risks and benefits of diagnosing KS at different ages.

Conclusion: There is a lack of evidence regarding the influence of age at diagnosis on adult outcomes that can only be obtained through a pilot screening programme.