Mental Health Diagnoses Associated With Sex Chromosome Anomalies

Sex chromosome aneuploidy (SCA) is a group of conditions characterized by an atypical number of X and/or Y chromosomes, which are associated with various mental health diagnoses (MHD). Individuals with Klinefelter syndrome (KS), Turner syndrome (TS), or Turner mosaicism (TM) were identified using an electronic health record screening algorithm, followed by a review of karyotype data and clinical notes. Each patient with KS was matched with 10 non-SCA males, and each TS or TM participant was matched with 10 non-SCA females. Poisson regression models accounting for matched design and controlling for enrollment duration were used to calculate prevalence ratios (PR) and 95% confidence intervals (CI) for various MHD categories. When 282 KS patients were compared with male referents, the top three differences in prevalence were observed for feeding and eating disorders (PR = 4.2; 95% CI: 1.6, 11.1), disruptive, impulsive-control, and conduct disorders (PR = 3.4; 95% CI: 2.3, 5.0), and suicidal ideation (PR = 3.5; 95% CI 2.0, 5.9). Among 263 TS/TM patients, the corresponding PR estimates relative to female referents were the highest for neurodevelopmental disorders (3.6; 95% CI: 2.7, 4.8) and disruptive, impulsive-control, and conduct disorders (2.0; 95% CI: 1.2, 3.6). When the data were stratified according to age at the time of MHD linkages, the PR estimates varied across the groups, but the 95% CIs largely overlapped. People with SCA carry a greater burden of MHD than comparable persons without SCA. Management of mental health comorbidities is a relatively neglected healthcare priority in this group of patients.