SUN-225 The 47,XYY Syndrome Is Associated with Increased Morbidity: A Nationwide Registry Study

Abstract

Background: Although the 47,XYY syndrome is one of the most common sex chromosome abnormalities in males, as being diagnosed in 18 per 100,000 newborns, little is known about the long-term health outcomes of this condition. Objective: To describe morbidity in a national cohort of 47,XYY males as compared to the general male population using complete data on hospital admissions and prescribed medication. Design and setting: A nationwide registry study with complete follow-up in a uniform public health care system. Participants: A total of 251 males with 47,XYY (n=205), 46,XY/47,XYY (n=28) or compatible karyotypes (n=18) diagnosed during 1965-2014 and a randomly selected age-matched control cohort of 25,100 males from the general population. Results: The risk of being admitted to hospital owing to any diagnosis was significantly increased in 47,XYY compared to controls (HR=1.8, CI:1.6-2.4). Dividing diagnoses into 18 diagnostic groups showed an increased risk of admission in all but three groups. The highest HR was observed for congenital malformations (HR=6.1, CI: 4.8-7.6); psychiatric diseases (HR=5.7, CI: 4.5-7.1); endocrine and metabolic disorders (HR=3.2, CI: 2.4-4.4); neurologic diseases (HR=3.0, CI:2.2-4.0); and urogenital system disorders (HR=3.0, CI: 2.4-3.7). Overall, 47,XYY had an increased risk of receiving medicinal prescriptions compared to controls (HR=1.3, CI:1.1-1.5), and it was significantly increased in 11 out of 14 medicinal prescription groups. The highest HR was observed for medication related to the blood (HR=2.5, CI:1.8-3.5) and the nervous system (HR=2.2, CI:1.9-2.7) as well as for urogenital system disorders and sex hormones (HR=2.7, CI: 2.0-3.7). Conclusions: This study of an unselected nationwide cohort of males affected by the 47,XYY syndrome shows that an additional Y chromosome is associated with an increased morbidity as interpreted from data of hospital admissions and medicinal prescriptions. Approximately 80% of males affected by the 47,XYY syndrome suffer from non-diagnosis, and it remains unknown whether these data extend to those not yet diagnosed.