A Case of Klinefelter Syndrome and Gender Dysphoria

Moustafa, Yara W.

doi:10.1176/appi.ajp-rj.2017.120506

Cited by 4 publications

(2 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Two individuals reported an improvement in gender incongruence following the commencement of testosterone 40,43 . Feminizing hormone therapy was prescribed in seven individuals 31,36,39,41,42,44 …”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review

Liang

Cheung

Nolan

2022

Clinical Endocrinology

View full text Add to dashboard Cite

Objective: Previous studies have suggested a higher prevalence of Klinefelter syndrome amongst transgender individuals. We undertook a systematic review to determine the prevalence of Klinefelter syndrome amongst transgender individuals presumed male at birth and summarize the clinical features and potential treatment implications for individuals with Klinefelter syndrome commencing gender-affirming hormone therapy. Design: Using preferred reporting items for systematic review and meta-analysis guidelines, we searched EMBASE, MEDLINE and the Cochrane Central Register of Controlled Trials (CENTRAL) up to 31 December 2021. All studies reporting on the prevalence or clinical features of transgender individuals with Klinefelter syndrome were included. This study is registered with the International Prospective Register of Systematic Reviews, number CRD42021227916. Results: Our search strategy retrieved 11 cohort studies comprising 1376 transgender individuals. In all, 14 of 1376 (1.02%) individuals were diagnosed with Klinefelter syndrome. Based on the seven studies in which karyotype was undertaken in all individuals, the prevalence is 9/1013 (0.88%; 95% CI, 0.41% −1.68%). Case reports highlight unique treatment considerations in this population, including azoospermia, venous thromboembolism, and monitoring of breast cancer and bone health. Conclusions: 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.

show abstract

Section: Resultsmentioning

confidence: 99%

“…40,43 Feminizing hormone therapy was prescribed in seven individuals. 31,36,39,41,42,44 Clinical features are shown in Table 3. Pathognomonic small testicular volume was reported in two individuals.…”

Section: Resultsmentioning

confidence: 99%