Cinsiyet Uyum Süreciyle İlgili Değerlendirmede Kromozom Analizi: Geriye Dönük Araştırma

2019; 30(3): 157-162
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Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study

Objective: 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
Method: 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.
Results: 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.
Conclusion: 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
Key Words: Gender reassignment procedures, gender dysphoria,karyotyping