Co-occurrence of Autism Spectrum Disorder and Gender Incongruence in an Adolescent Female Patient: Diagnostic Challenges in an Underrecognized Clinical Association

Autism spectrum disorder (ASD) and gender incongruence (GI) are increasingly recognized as co-occurring conditions, with growing evidence indicating a prevalence substantially higher than expected in the general population. This association presents important diagnostic challenges, particularly among adolescents assigned female at birth (AFAB), in whom ASD frequently remains unrecognized because of the female autism phenotype, social camouflaging strategies, and overlapping psychiatric manifestations. Delayed identification of ASD may contribute to significant psychological distress and increased psychiatric morbidity. We report the case of a 16-year-old adolescent AFAB with persistent gender incongruence who was admitted to a child and adolescent psychiatric unit because of severe depressive symptoms, recurrent self-injurious behavior, chronic suicidal ideation, and multiple suicide attempts. Retrospective developmental assessment revealed longstanding difficulties in social communication and reciprocity, sensory hypersensitivities, cognitive rigidity, restricted interests, and marked interpersonal difficulties dating back to early childhood. A comprehensive psychiatric, neuropsychological, and developmental evaluation, including administration of the Autism Diagnostic Interview-Revised (ADI-R), supported a diagnosis of ASD consistent with the female autism phenotype. This case highlights the diagnostic complexity associated with the coexistence of ASD and GI and underscores the importance of comprehensive neurodevelopmental assessment in gender-diverse adolescents presenting with severe psychiatric symptoms. Early recognition of ASD may improve diagnostic accuracy, facilitate individualized treatment planning, and support better psychiatric and psychosocial outcomes in this particularly vulnerable population.