Article Title: BMJ Best Practice Klinefelter Syndrome

Authors: Alan Rogol, Gary Butler, and Claus Gravholt

Date of Publication: June 4, 2024

“Population mortality and morbidity studies suggest there is a slight but not significant lowering of life expectancy in individuals with Klinefelter syndrome (KS). The average lifespan has been found to be reduced by 1.5 to 2 years, with morbidity and mortality increased due to a wide number of conditions, including diabetes, cerebrovascular disease, and breast cancer. Higher rates of osteoporosis and fractures are also important to note.

Appropriate treatment with testosterone can alleviate the portion of excess risk that is due to conditions associated with hypergonadotropic hypogonadism, but some of the elevated risk is likely intrinsic to the chromosome aberration and therefore not corrected by testosterone treatment.

The increased morbidity and mortality in individuals with KS may also be partially explained by their often lower socioeconomic status, with cohort data suggesting shorter education, higher rates of unemployment, lower average incomes, and earlier average age at retirement compared with men without KS.

It is important to note that most boys and men with KS are never diagnosed so the reported data likely reflects more severe phenotypes of the condition.”

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