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Should chromosomal analysis be performed routinely during the baseline evaluation of the gender affirmation process? The outcomes of a large cohort of gender dysphoric individuals

Abstract

The role of genetics in the etiology of gender dysphoria (GD) is an important yet understudied area. Yet whether genetic analysis should be carried out during the gender affirmation process at all is a matter of debate. This study aims to evaluate the cytogenetic and molecular genetic findings of individuals with GD. We retrospectively reviewed the medical records of individuals with GD who were followed up in a tertiary clinic. After the exclusion criteria were applied, the study sample consisted of 918 individuals with GD; 691 of whom had female-to-male (FtM) and 227 male-to-female (MtF) GD. The cytogenetic analysis revealed that 223 out of 227 (98.2%) individuals with MtF GD had the 46,XY karyotype, while 683 out of 691 (98.8%) individuals with FtM GD had the 46,XX karyotype. In the Y chromosome microdeletion analysis, azospermic factor c (AZFc) deletion was detected in only two individuals with MtF GD. Our findings suggest that there are few chromosomal abnormalities in individuals with GD. Thus, this research calls into question both the role of chromosomal abnormalities in GD etiology and why the application of chromosomal analysis is in Turkey a routine part of the baseline evaluation of GD.

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Data are available upon request due to restrictions privacy or ethics. The data presented in this study are available on request from the corresponding author.

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Acknowledgements

We thank Dr. Deniz Agirbasli for her support. No financial disclosure was received.

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AKY, ST, and MS were responsible for designing the review protocol, writing the protocol and report, interpreting results, and updating the reference lists. MTA, YK, and OD were responsible for extracting and analyzing the data, interpreting the results and providing feedback on the report.

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Correspondence to Mehmet Seven.

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Kalaycı Yigin, A., Turan, Ş., Alay, M.T. et al. Should chromosomal analysis be performed routinely during the baseline evaluation of the gender affirmation process? The outcomes of a large cohort of gender dysphoric individuals. Int J Impot Res (2022). https://doi.org/10.1038/s41443-022-00582-4

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