Recent systematic review determines the prevalence of Klinefelter syndrome amongst transgender individuals presumed male at birth.

A research team from the University of Melbourne, Australia, initiated a systematic review with the aim to determine the prevalence of Klinefelter syndrome amongst transgender individuals presumed male at birth. Researchers also summarized the clinical features and potential treatment implications for individuals with Klinefelter syndrome commencing gender‐affirming hormone therapy.

Klinefelter syndrome (47,XXY) is the most common sex chromosomal disorder in individuals presumed male at birth. Individuals with Klinefelter syndrome have a primary testicular failure, with resultant clinical features including small testes, gynaecomastia, sparse male-pattern body hair and eunuchoid proportions.

Klinefelter syndrome is a highly underdiagnosed condition. In particular, only 25%−50% of individuals are diagnosed, while up to now diagnosis is frequently made in adulthood during fertility assessment.

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Using preferred reporting items for systematic review and meta‐analysis guidelines, researchers searched EMBASE, MEDLINE and the Cochrane Central Register of Controlled Trials (CENTRAL) up to 31 December 2021. The team retrieved 11 cohort studies comprising 1376 transgender individuals. Out of the total study population, 14 (1.02%) were identified as having Klinefelter syndrome. Based on the seven studies in which karyotype was undertaken in all individuals, the prevalence was 9/1013. In the general population, the prevalence of Klinefelter syndrome is estimated at 0.02%−0.22% or approximately 1/600 people presumed male at birth.

The findings of this systematic review demonstrate that there is a higher prevalence of Klinefelter syndrome amongst trans and gender‐diverse individuals presumed male at birth compared to previous analyses in the general population. However, underdiagnosis in the general population limits conclusions.

Routine karyotype in trans people initiating hormone therapy is not supported unless hypergonadotropic hypogonadism is detected at baseline or if clinical features of Klinefelter syndrome, such as small testicular volume, are present. Trans individuals with Klinefelter syndrome need to manage a unique risk profile if they desire gender‐affirming treatment. Hence, it may be necessary to monitor and adjust treatment to minimize risks such as thromboembolic disease, breast cancer and infertility.

Reference: : Liang B, Cheung AS, Nolan BJ. Clinical features and prevalence of Klinefelter syndrome in transgender individuals: a systematic review. Clin Endocrinol. 2022;1‐10. doi:10.1111/cen.14734
Original article published in DocWire News on April, 8, 2022
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