Metabolic and cardiovascular risk factors in Klinefelter syndrome. Issue 2 (26th May 2020)

• Record Type: Journal Article
• Authors: Spaziani, Matteo; Radicioni, Antonio F.
• Other Names: Gravholt Claus H. guestEditor.; Tartaglia Nicole guestEditor.; Disteche Christine guestEditor.
• Is Part Of: American journal of medical genetics. Volume 184:Issue 2(2020)
• Page Start: 334
• Page End: 343
• Publication Date: 2020-05-26
• Subjects: body composition -- cardiovascular risk -- Klinefelter syndrome -- metabolic syndrome -- visceral obesity; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31792
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract: Klinefelter syndrome (KS), which normally presents with a 47, XXY karyotype, is the most common sex chromosome disorder in males. It is also the most common genetic cause of male infertility. KS subjects are typically tall, with small and firm testes, gynecomastia, broad hips, and sparse body hair, although a less evident presentation is also possible. KS is also characterized by a high prevalence of hypogonadism, metabolic syndrome (MetS) and cardiovascular disease. The aim of this article is to systematically review metabolic and the cardiovascular risk factors in KS patients. Hypogonadism has an important role in the pathogenesis of the changes in body composition (particularly visceral obesity) and hence of insulin resistance and MetS, but the association between KS and MetS may go beyond hypogonadism alone. From childhood, KS patients may show an increase in visceral fat with a reduction in lean body mass and an increase in glucose and impaired fat metabolism. Their increased incidence of congenital anomalies, epicardial adipose tissue, and thromboembolic disease suggests they have a higher risk of cardiovascular disease. There is conflicting evidence on the effects of testosterone therapy on body composition and metabolism.