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

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 in...

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Published inInternational journal of impotence research Vol. 35; no. 5; pp. 472 - 477
Main Authors Kalaycı Yigin, Aysel, Turan, Şenol, Alay, Mustafa Tarık, Kavla, Yasin, Demirel, Öznur, Seven, Mehmet
Format Journal Article
LanguageEnglish
Published England Nature Publishing Group 01.08.2023
Subjects
Androgens
Chromosome Aberrations
Chromosomes
Data collection
Etiology
Female
Gender dysphoria
Gender Identity
Genetics
Hormones
Humans
Karyotyping
Male
Medical tests
Mental disorders
Mental health
Psychiatry
Retrospective Studies
Sociodemographics
Turkey
Turkey
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Summary: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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ISSN:0955-9930
1476-5489
DOI:10.1038/s41443-022-00582-4