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Gender nonconformity refers to a condition where an individual’s gender expression or identity does not align with societal expectations associated with their sex assigned at birth. Gender dysphoria is characterized by distress experienced as a function of a significant mismatch between a person’s experienced or expressed gender and the sex assigned at birth. These conditions are influenced by biological, psychological, and sociocultural factors, with many unknowns regarding their developmental aspects. This thesis aimed to explore these two phenomena using a multidisciplinary approach from various perspectives. Data from two cohort studies, the Swedish Environmental Longitudinal Mother and Child Asthma and Allergy study and the Swedish Gender Dysphoria Study, as well as interviews with individuals experiencing gender dysphoria, were utilized.

Biological correlates of gender nonconformity were examined through the relationship between prenatal phthalate exposure and gender-specific play behavior, with suggestive associations observed. Associations between gender nonconforming play behavior and behavioral difficulties were also identified in children. Childhood gender nonconformity was linked to gender dysphoria and decreased mental well-being in individuals with gender dysphoria. In terms of the connection between gender diversity and autism, gender nonconforming play behavior was associated with autistic traits in girls, and individuals with gender dysphoria exhibited a higher prevalence of autism spectrum disorder and elevated autistic traits compared to cisgender individuals. Finally, gender identity formation was characterized as a dynamic, non-linear, and individualized process among those experiencing gender dysphoria, articulated through the variety of terms used by these individuals to label their gender identity. In conclusion, this thesis contributes important knowledge to understanding gender nonconformity and gender dysphoria.