Metabolic and cardiovascular risk factors in Klinefelter syndrome
| Autor: | Matteo Spaziani, Antonio F. Radicioni |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
Metabolic Syndrome business.industry Hypogonadism Physiology Disease medicine.disease Male infertility Klinefelter Syndrome Insulin resistance Gynecomastia Heart Disease Risk Factors Risk Factors Genetics medicine Lean body mass Humans Testosterone Klinefelter syndrome Metabolic syndrome Child business Infertility Male Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:334-343 |
| ISSN: | 1552-4876 1552-4868 |
| DOI: | 10.1002/ajmg.c.31792 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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