SynthesisClinical endocrinology2022
Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review.
Synthesis in Clinical endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review.Clinical endocrinology · 2022Pooled it
- Continuity of care in Klinefelter syndrome: age-adapted modules for standardized clinical data collection (I-KS).Endocrine connections · 2025Article
- Can Support for Homosexuality Reduce the Prevalence of Mental Health Problems among LGBTQIranian journal of psychiatry · 2025Review
- Correlation between gynecomastia and endocrine regulation in patients with metabolic dysfunction-associated fatty liver disease: A cross-sectional study.World journal of hepatology · 2025Article
- A qualitative exploration of experiences of gender identity and gender questioning among adults with Klinefelter syndrome/XXY.Journal of genetic counseling · 2025Article
- The hidden in plain sight: global, regional, and national trends in the pediatric burden of Klinefelter syndrome, 1990-2021.Frontiers in genetics · 2025Article
- Androgyny and atypical sensory sensitivity associated with savant ability: a comparison between Klinefelter syndrome and sexual minorities assigned male at birth.Frontiers in child and adolescent psychiatry · 2024Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePrevious 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.
designUsing 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.
resultsOur 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.
conclusionsCompared 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.