Gender identity in Klinefelter Syndrome: a patient-centered approach to treatment.

Only 53% of KS patients responding to the survey fully identified as male.

• 139 anonymous responses were collected between December 2021 and January 2023.
• Responses were collected via an online 23-point questionnaire shared with members of the Klinefelter Syndrome Association (KSA).
• The questionnaire was developed with guidance from gender psychiatrists, urologists, psychosexual medicine specialists, and endocrinologists, as well as patient Delphi rounds.
• Data was reviewed and analyzed by 4 independent researchers within the Quality Improvement Project team.

19% of KS respondents stated that they did not enjoy living as the sex on their birth certificate.

• This finding was based on 139 anonymous survey responses.
• The study notes that gender dysphoria is considered more prevalent in the KS population than in males in the general population.
• 3 participants explicitly stated that they have gender dysphoria (GD).

43% of KS respondents considered changing aspects of their physical appearance to better match their gender.

• This finding was based on 139 anonymous survey responses from KSA members.
• The study explored the role that physical characteristics play in gender identity in KS.
• This suggests a substantial proportion of KS patients experience some dissatisfaction with their physical presentation relative to their gender identity.

67% of respondents were receiving Testosterone Replacement Therapy (TRT), though a subset expressed preference for estrogen.

• 63% of respondents wanted TRT and 17% wanted estrogen.
• 6% of current TRT users stated they would prefer estrogen instead.
• 36% of those currently receiving TRT did not identify as male.
• The study highlights that HRT decisions should be discussed carefully with KS patients who have gender identity concerns.

Gender dysphoria is reported to be more prevalent in the Klinefelter Syndrome population than in males in the general population, though exact incidence is uncertain.

• The study notes 'increasing evidence' for higher GD prevalence in KS compared to the general male population.
• The exact incidence of GD in KS remains uncertain according to the authors.
• The study was designed in part to further explore the prevalence of gender-related issues in KS.
• 3 participants in this sample explicitly identified as having GD.