Qualitative Exploration of the Psychological Impact of Discovering Klinefelter Syndrome/XXY During Infertility Evaluation: A Case Series

Introduction: Infertility is a common consequence of Klinefelter syndrome (KS/XXY), which is often undiagnosed until adulthood and is frequently uncovered during fertility investigations through semen analysis and genetic karyotyping. Aims: To gain insights into the experience of receiving a KS/XXY diagnosis during fertility investigations. Methods: A phenomenological thematic analysis was conducted using interviews with five adults with KS/XXY, selected from a larger cohort of people with KS/XXY because they had experienced infertility. Results: Of the five participants, three described receiving their KS/XXY diagnosis as part of fertility investigations. The thematic analysis identified two themes: ‘finding out’ and ‘emotional reactions’. The ‘finding out’ theme illustrated how people learnt about their infertility and, in some cases, discovered their KS/XXY diagnosis simultaneously. The ‘emotional reactions’ theme captured people’s feelings on being informed of their KS/XXY status and learning that this was the cause of their infertility, activating feelings that some of the participants found hard to process. Conclusions: The findings provide insights into the psychological impact of a sudden combined diagnosis of infertility and KS/XXY, including emotional burden, delayed diagnosis and lack of psychological support. They highlight the importance of earlier detection of KS/XXY where possible and suggest that practitioners in fertility services should handle the delivery of such news with sensitivity.