A qualitative exploration of experiences of gender identity and gender questioning among adults with Klinefelter syndrome/XXY.

People with Klinefelter syndrome (KS/XXY) may be at higher risk of gender dysphoria than the general population and gender diversity needs greater recognition and consideration in services for people affected. This study aimed to give systematic insights into experiences of gender diversity among people with KS/XXY, which could inform more person-centered care for people with KS/XXY and contribute to practical guidance for healthcare professionals. We conducted individual, semi-structured interviews with 11 adults with diagnosed KS/XXY. The verbatim interview transcripts were analyzed using experiential reflexive thematic analysis, which identified four themes: (1) Experience of gender, which described participants' experiences of exploring and negotiating their gender identity; (2) Navigating expectations, which described how participants' gender uncertainty was associated with confusion, isolation, and shame, and how fears about other people's reactions caused participants to keep their gender identity secret; (3) Testosterone assumptions, which described how participants needed more discussion and counseling before testosterone replacement therapy (TRT), and how some benefited from treatment with alternative hormones to testosterone; and (4) A different approach, which described participants' experiences of care at gender identity clinics. The findings give new insights into the gender identity journeys of people with KS/XXY, from early attempts to understand and make sense of gender, through dealing with social pressures, the development of gender identities more congruent with feelings, and experiences with hormone replacement therapy. The practice implications include that there should be improved consideration of gender identity in care for KS/XXY, better psychological support for those affected by gender diversity, and more consideration given to alternatives to testosterone-based therapies. Future research could explore the experiences of gender identity among different groups of people with KS/XXY, the development of gender identity over time, the effects of TRT on gender identity, and healthcare providers' knowledge and attitudes about gender identity and KS/XXY.