Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders

• Published in: Journal of endocrinological investigation Vol. 40; no. 7; pp. 705 - 712
• Main Authors: Calogero, A. E., Giagulli, V. A., Mongioì, L. M., Triggiani, V., Radicioni, A. F., Jannini, E. A., Pasquali, D.
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.07.2017; Springer Nature B.V
• Subjects: Androgens; Cardiovascular Abnormalities - etiology; Congenital defects; Diabetes mellitus; Endocrinology; Hemorrhage; Hormone replacement therapy; Humans; Infertility; Klinefelter Syndrome - complications; Klinefelter's syndrome; Leg; Life span; Medicine; Medicine & Public Health; Metabolic Diseases; Metabolic disorders; Metabolic syndrome; Metabolic Syndrome - etiology; Risk Factors; Short Review; Testosterone; Thrombosis; Ulcers; Klinefelter syndrome; Testosterone; Cardiovascular disease; Hypergonadotropic hypogonadism; Chromosome abnormalities; Metabolism
• ISSN: 1720-8386; 0391-4097; 1720-8386
• DOI: 10.1007/s40618-017-0619-9

Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. KS patients have an increased risk of cerebrovascular disease (standardized mortality ratio, SMR, 2.2; 95% confidence interval, CI, 1.6–3.0), but it is not clear whether the cause of the death is of thrombotic or hemorrhagic nature. Cardiovascular congenital anomalies (SMR, 7.3; 95% CI, 2.4–17.1) and the development of thrombosis or leg ulcers (SMR, 7.9; 95% CI, 2.9–17.2) are also more frequent in these subjects. Moreover, cardiovascular abnormalities may be at least partially reversed by testosterone replacement therapy (TRT). KS patients have also an increased probability of endocrine and/or metabolic disease, especially obesity, metabolic syndrome and type 2 diabetes mellitus. The effects of TRT on these abnormalities are not entirely clear.