title: Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders.
abstract: 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.
authors.affiliation: Department of Clinical and Experimental Medicine, University of Catania, Policlinico "G. Rodolico", via S. Sofia 78, 95123, Catania, Italy. acaloger@unict.it.
authors.forename: A E
authors.initials: AE
authors.lastname: Calogero
authors.affiliation: Department of Endocrinology and Metabolic Diseases, University of Bari, Bari, Italy.
authors.forename: V A
authors.initials: VA
authors.lastname: Giagulli
authors.affiliation: Department of Clinical and Experimental Medicine, University of Catania, Policlinico "G. Rodolico", via S. Sofia 78, 95123, Catania, Italy.
authors.forename: L M
authors.initials: LM
authors.lastname: Mongioì
authors.affiliation: Outpatient Clinic for Endocrinology and Metabolic Diseases, Conversano Hospital, Conversano, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Triggiani
authors.affiliation: Department of Experimental Medicine, La Sapienza University of Rome, Rome, Italy.
authors.forename: A F
authors.initials: AF
authors.lastname: Radicioni
authors.affiliation: Department of Systems Medicine, Tor Vergata University of Rome, Rome, Italy.
authors.forename: E A
authors.initials: EA
authors.lastname: Jannini
authors.affiliation: Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, Second University of Naples, Naples, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Pasquali
mesh_terms: D018376:Cardiovascular Abnormalities / Q000209:etiology*; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications*; D024821:Metabolic Syndrome / Q000209:etiology*; D012307:Risk Factors
keywords: Cardiovascular disease; Chromosome abnormalities; Hypergonadotropic hypogonadism; Klinefelter syndrome; Metabolism; Testosterone