Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study

Abstract

Gender dysphoria refers to the experienced discomfort related to the incongruence between gender identity and the sex assigned at birth. Current treatment approach for this clinical condition is gender affirmation procedures. International guidelines about gender affirmation do not recommend routine genetic evaluation. In Turkey, provision of health insurance for medical expenses incurred by these procedures requires genetic consultation which frequently involves chromosome analysis (karyotyping). However, the contribution of routine chromosome analysis to the assessment and management of gender dysphoria is not established. This study aims to assess the results of chromosome analysis and its effect on the management of gender dysphoria. The completed chromosome analysis results and observational records of 217 individuals among a total of 281 evaluated for gender affirmation in the psychiatry polyclinic were investigated retrospectively. The chromosome analysis results of 213 (98.2 %) of the 217 individuals investigated were congruent with the sex assigned at birth. Variations were found in the karyotypes of 4 individuals with female sex assigned at birth, only 1 of whom had been diagnosed with a disorder of sex development. In the other cases, however, chromosome analysis did not affect the diagnosis or the clinical intervention. Finding that routine chromosome analysis during the assessment for gender affirmation process rarely affected the clinical diagnosis and the treatment was consistent with the reports of previous studies and supported the recommendation that chromosome analysis should be carried out only in cases where history, physical examination and the required imaging investigations suggested a disorder sex development.