In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome

• Stress, family quality of life and family management vary according to the age of parents.
• Positive attributes of affected sons are offset by KS-related symptoms and behavioral challenges.
• Parents feel burdened due to misinformation, labeling and stigma related to the KS diagnosis.
• Parents feel uninformed about how to care for the health of their sons with regard to the child’s developmental trajectory.

The purpose of this mixed method study was to describe family management challenges for parents who have sons with Klinefelter Syndrome (KS). Standardized survey results showed that stress, quality of life and family management struggles varied by parent age. When interviewed, parents described feeling uninformed and without support to make decisions about managing their sons’ KS. Parents reported that a lack of guidance and case coordination created barriers in caring for their sons throughout childhood. Given the prevalence of KS, health care providers need to be prepared to provide comprehensive evaluation and anticipatory guidance for KS boys and families.