Mortality in patients with Klinefelter syndrome in Britain: a cohort study

Swerdlow, Anthony J., Higgins, Craig D., Schoemaker, Minouk J., Wright, Alan F. and Jacobs, Patricia A. , United Kingdom Clinical Cytogenetics Group (2005) Mortality in patients with Klinefelter syndrome in Britain: a cohort study. Journal of Clinical Endocrinology & Metabolism, 90 (12), 6516-6522. (doi:10.1210/jc.2005-1077).

Abstract

Context: Klinefelter syndrome is characterized by hypogonadism and infertility, consequent on the presence of extra X chromosome(s). There is limited information about long-term mortality in this syndrome because there have been no large cohort studies.
Objective: Our objective was to investigate mortality in men with Klinefelter syndrome.
Design and Setting: We obtained data about patients diagnosed with Klinefelter syndrome at almost all cytogenetics centers in Britain, as far back as records were available, and conducted a cohort study of their mortality, overall and by karyotype.
Patients: We assessed 3518 patients diagnosed since 1959, followed to mid-2003.
Outcome Measure: The outcome measure was standardized mortality ratio (SMR).
Results: A total of 461 deaths occurred. There was significantly raised mortality overall [SMR, 1.5; 95% confidence interval (CI), 1.4–1.7] and from most major causes of death including cardiovascular disease (SMR, 1.3; 95% CI, 1.1–1.5), nervous system disease (SMR, 2.8; 95% CI, 1.6–4.6), and respiratory disease (SMR, 2.3; 95% CI, 1.8–2.9). Mortality was particularly raised from diabetes (SMR, 5.8; 95% CI, 3.4–9.3), epilepsy (SMR, 7.2; 95% CI, 3.1–14.1), pulmonary embolism (SMR, 5.7; 95% CI, 2.5–11.3), peripheral vascular disease (SMR, 7.9; 95% CI, 2.9–17.2), vascular insufficiency of the intestine (SMR, 12.3; 95% CI, 4.0–28.8), renal disease (SMR, 5.0; 95% CI, 2.0–10.3), and femoral fracture (SMR, 39.4; 95% CI, 4.8–142.3). Mortality from ischemic heart disease was significantly decreased (SMR, 0.7; 95% CI, 0.5–0.9).
Conclusions: Patients diagnosed with Klinefelter syndrome have raised mortality from several specific causes. This may reflect hormonal and genetic mechanisms.

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