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

Area of Science:

• Endocrinology
• Genetics
• Psychiatry

Background:

• Gender dysphoria involves discomfort due to incongruence between gender identity and assigned sex.
• Gender affirmation procedures are the standard treatment.
• International guidelines do not mandate routine genetic evaluation for gender dysphoria.

Purpose of the Study:

• To evaluate the results of chromosome analysis in individuals undergoing gender affirmation.
• To determine the impact of chromosome analysis on the management of gender dysphoria.
• To assess the clinical utility of routine karyotyping in this population.

Main Methods:

• Retrospective analysis of chromosome analysis results and observational records.
• Study included 217 individuals evaluated for gender affirmation.
• Data collected from psychiatry polyclinic evaluations.

Main Results:

• Chromosome analysis results were consistent with the sex assigned at birth for 98.2% of individuals.
• Karyotype variations were found in only 4 individuals assigned female at birth.
• Chromosome analysis did not alter the diagnosis or clinical intervention in most cases.

Conclusions:

• Routine chromosome analysis has limited impact on the diagnosis and treatment of gender dysphoria.
• Findings align with previous studies recommending genetic evaluation only when a disorder of sex development is suspected.
• Genetic testing should be reserved for cases with suggestive clinical findings.