Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review.
Bonnie LiangAda Sau-Zhuen CheungBrendan J NolanPublished in: Clinical endocrinology (2022)
Compared to the general population, observational studies document a higher prevalence of Klinefelter syndrome amongst transgender individuals, though underdiagnosis in the general population limits conclusions. Routine karyotype in transgender people initiating gender-affirming hormone therapy is not supported unless clinical features of Klinefelter syndrome, such as small testicular volume, or hypergonadotropic hypogonadism are present. Transgender individuals with Klinefelter syndrome need to manage a unique risk profile if they desire feminizing gender-affirming hormone therapy.