Gender Dysphoria in Children with Autism Spectrum Disorder

PURPOSE: While gender dysphoria (GD) and autism spectrum disorder (ASD) are generally identified in isolation, research on individuals who are gender-referred or have autism suggests a possible overrepresentation of ASD in persons with GD and GD in persons with ASD. We investigated diagnosed GD in patients formally diagnosed with ASD and matched controls in the Military Health System. METHODS: We performed a retrospective case-cohort study of GD diagnoses in children aged 2-18 years with and without ASD utilizing health care records from 2000 to 2013. Cases were formally diagnosed with ASD and matched to five controls by date of birth, gender marker, and enrollment time. Outpatient visits for GD were identified by relevant International Classification of Diseases, Ninth Revision codes. Logistic regression analysis determined odds ratios (ORs) and 95% confidence intervals (95% CIs) of GD diagnoses by ASD. RESULTS: A total of 48,762 children with diagnosed ASD were identified, and each matched to five controls, for a total of 292,572 children. Cases and controls were each 80% assigned male at birth. The median end age of included children was 11.6 years. Of included children, 66 (0.02%) had diagnosed GD. Children with ASD were over four times as likely to be diagnosed with a condition indicating GD (OR 4.38 95% CI 2.64-7.27, p < 0.001) compared with matched controls. CONCLUSION: This study corroborates previous research indicating an overrepresentation of GD in children with ASD. Further research is needed to understand the association and to demonstrate approaches to providing optimal care to these children.