Genetic Aspects of Gender Identity Development and Gender Dysphoria

B.P.C. Kreukels et al. (eds.), Gender Dysphoria and Disorders of Sex Development: Progress in Care and Knowledge, Focus on Sexuality Research, DOI 10.1007/978-1-4614-7441-8_2, © Springer Science+Business Media New York 2014 Abstract The development of gender identity, its variance, and gender dysphoria is thought to be a complex process involving biological and psychosocial factors. Heritability studies have demonstrated a genetic factor for the development of gender dysphoria. The brain is regarded as the anatomical substrate of gender identity, and sex differences of the brain are studied to elucidate the process of gender identity development. Many sex differences have been attributed to hormonal action, and the fi rst genetic studies in transsexuals were focused on sex-steroid-related genes. To this day, a convincing candidate gene has not been identifi ed, and it is now known that sex chromosomes have a direct effect on sex differentiation and that they may play a role in gender identity development. For future studies of the genetic base of gender dysphoria, new techniques, such as genome-wide studies, have become available. In addition, epigenetic studies may provide for a different association perspective of the genetics of gender dysphoria. Chapter 2 Genetic Aspects of Gender Identity Development and Gender Dysphoria