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Gender identity—our sense of being male or female—develops early in life.By age 2 years, most children are able to identify their own gender, which is typically consistent with the sex they were at birth (1, 2).Subject-control analysis included 380 transgender women and 344 control male subjects.Associations and interactions were investigated between functional variants in 12 sex hormone–signaling genes and gender dysphoria in transgender women.Yet, a small percentage of people will report substantial clinical distress because their sex at birth does not reflect their gender identity (3).
Candidate gene association studies have begun to investigate whether functional variants in sex hormone–signaling genes are associated with gender dysphoria.We hypothesized that gender dysphoria in transgender women is associated with genetic variants in sex hormone–signaling genes responsible for undermasculinization and/or feminization of the brain.The aim of our study was to conduct a genetic association study of 12 sex signaling genes, including , which, to our knowledge, have not previously been studied in the context of gender dysphoria.Caucasian (non-Latino) transgender women were recruited who received a diagnosis of transsexualism [Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV) or gender dysphoria (DSM-V)] pre- or postoperatively.Most were receiving hormone treatment at the time of recruitment.
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They also were recruited from Monash Medical Centre (n = 281) and UCLA (n = 63).