Purpose of review: To examine recently published evidence that may inform the need for population screening of Klinefelter syndrome; by far the most common chromosomal disorder in males, which most often escapes diagnosis throughout the lifespan.
Recent findings: Research regarding the prevalence and characteristics of developmental and learning difficulties in Klinefelter syndrome emphasize the importance of early intervention with likely subsequent psychosocial and other health benefits. Testosterone treatment will always need to be individualized, but there is growing evidence for the benefits of intervention from the time of puberty, and possibly in early childhood. Discussion of fertility options is now essential given the advent of surgical sperm retrieval and intracytoplasmic sperm injection.
Summary: Despite increasing knowledge of the natural history of the Klinefelter syndrome spectrum, beneficial interventions and when they should occur, most opportunities are missed due to nondiagnosis. Population screening is arguably the only way of ensuring timely detection of individuals with Klinefelter syndrome. The technologies and structures for such a program already exist. This field now requires a pilot program to further define the risks, benefits and psychosocial and ethical dimensions of screening.