CME Course Title: Klinefelter Syndrome: Identifying, characterizing and managing an underdiagnosed condition with serious consequences

Course Directors: Hooman Sadri, MD, PhD and Stuart Howards, MD

Reviewed by the AXYS Clinic & Research Consortium (ACRC)

Date: October 2020


Have you unknowingly seen someone with Klinefelter Syndrome in your practice?

Chances are, you have. Klinefelter Syndrome (KS) is the most common sex chromosome disorder, occurring in approximately 1 out of every 600 male births. Yet an estimated 60 to 75% of those with KS will remain undiagnosed throughout their lifetimes.

Why does this matter?

It matters because KS is linked to significantly higher mortality rates and a range of physical, neurocognitive, and social/behavioral comorbidities as well as a lower quality of life and socioeconomic status. Some healthcare providers believe that delayed diagnosis can increase patient morbidity. And it matters because those with KS are getting lost in our healthcare system. Studies show that the majority of individuals with KS report being dissatisfied with their care. In addition, many with KS and their families find that their providers have outdated information about the condition, or little information at all. By learning more about the many facets of KS, providers across the healthcare system can work together to better treat and support those with this condition and their families.”

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