Prevalence of Psychiatric Comorbidities in Females With Classic Congenital Adrenal Hyperplasia

Although the increased burden of mental health problems among patients with classic 46,XX congenital adrenal hyperplasia (CAH) is well-documented, it remains unclear if this comorbidity is attributable to the burden of living with a chronic medical condition or the potential psychosocial/sexual consequences of being born with a difference of sex development (DSD) and its associated clinical management.

To compare the prevalence of psychiatric diagnoses among patients with CAH and 3 reference groups: matched males and females from the general population, and females with type 1 diabetes mellitus (T1DM).

This was a retrospective cross-sectional study using 3 large integrated health systems. Participants included patients with CAH (n = 115), general population male and female referents (n = 1150 per group), and 66 002 female T1DM referents.

The prevalence of depression, anxiety, personality disorders, and suicidal ideation was higher among CAH participants than in males and females from the general population, but similar to or lower than in T1DM referents. Patients with CAH were more likely to be diagnosed with neurodevelopmental disorders than both female reference groups, whereas the prevalence of elimination disorders (predominantly enuresis) and gender dysphoria was higher in the CAH cohort than in all reference groups.

Females with classic CAH experience a higher burden of psychiatric illness, including anxiety and depression, than demographically similar men and women in the general population. The similar psychiatric burden between females with CAH and T1DM suggests that morbidity may be influenced by the challenges associated with managing a chronic condition. Investigating long-term mental health trajectories in this population will require longitudinal studies.