Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use

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PURPOSE: A systematic description of morbidity in 47,XYY syndrome based on nationwide registry data of hospital diagnoses and prescribed medication.

METHODS: All males in Denmark diagnosed with 47,XYY syndrome during 1960-2014 were identified. Each was matched with 100 male controls from the general population. Diagnoses related to hospital encounters (1977-2014) and prescriptions (1996-2014) were analyzed by negative binominal regression and Cox regression, respectively.

RESULTS: 47,XYY syndrome was associated with a significantly increased overall incidence of hospital diagnoses (incidence rate ratio = 2.30, confidence interval [CI]: 1.99-2.65), including a significantly increased incidence of diagnoses associated with congenital malformations and genetic disorders as well as with psychiatric, neurologic, respiratory, urogenital, endocrine, circulatory, gastrointestinal, and musculoskeletal system disorders. Diagnoses associated with infections, skin and eye disorders were significantly increased as well. 47,XYY syndrome was associated with a significantly increased occurrence of prescriptions overall (hazard ratio = 1.25, CI: 1.10-1.44), with sex hormones and medication related to the urogenital system, blood, and nervous system being most prominently increased.

CONCLUSION: 47,XYY syndrome is associated with a significantly increased morbidity owing to a wide variety of diseases. Increased awareness of the diverse morbidity in 47,XYY syndrome may help guide clinicians assessing 47,XYY males, thereby improving long-term health outcomes.

TidsskriftGenetics in Medicine
Sider (fra-til)1542-1551
Antal sider10
StatusUdgivet - 2020

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