Increased Mortality in Klinefelter Syndrome

• DOI: 10.1210/jc.2004-0777
• Publication Date: 2004-08-03T17:40:43Z
• Authors: Anders Bojesen; Svend Juul; Niels Birkebæk; Claus H. Gravholt
• Keywords: Klinefelter syndrome; Danish

Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man and a common cause of hypogonadism. To describe mortality KS, we conducted an epidemiological study, using Danish registers covering entire nation. We constructed cohort 781 boys men diagnosed with KS (from Cytogenetic Central Register) control group 3803 men, matched by month year birth. Vital status was obtained from Centralized Civil Register, causes death were National Register Causes Death. used Cox regression stratification on groups diagnoses according to International Classification Diseases, 10th version. Where significant results found, subsequent analyses performed subdivisions diagnoses. found that associated increase risk 40% (hazard ratio, 1.40; 95% confidence interval, 1.13–1.74), corresponding significantly reduced median survival 2.1 yr. The increased mainly due infectious, neurological, circulatory, pulmonary, urinary tract diseases. Whether this caused per se (i.e. hypogonadism) or other factors, e.g. socioeconomic, are involved presently unknown.