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The role of hypogonadism in Klinefelter Syndrome

Asian Journal of Andrology 2014年第2期16卷 185-191,I0007页

作者： Christian Host Anne Skakkeb k kristian a groth Anders Bojesen Departments of Pediatrics Endocrinology and Internal Medicine (MEA) Molecular Medicine Cardiology Aarhus University Hospital Aarhus Department of Clinical Genetics Vejle Hospital Vejlep Institute of Regional Health Research University of Southern Denmark Odense Denmark.

Klinefelter syndrome （KS）（47, XXY） is the most abundant sex-chromosome disorder, and is a common cause of infertility and hypogonadism in men. Most men with KS go through life without knowing the diagnosis, as only 25% are diagnosed and only a few of these before puberty. Apart from hypogonadism and azoospermia, most men with KS suffer from some degree of learning disability and may have various kinds of psychiatric problems. The effects of long-term hypogonadism may be difficult to discern from the gene dose effect of the extra X-chromosome. Whatever the cause, alterations in body composition, with more fat and less muscle mass and diminished bone mineral mass, as well as increased risk of metabolic consequences, such as type 2 diabetes and the metabolic syndrome are all common in KS. These findings should be a concern as they are not simply laboratory findings; epidemiological studies in KS populations show an increased risk of beth hospitalization and death from various diseases. Testosterone treatment should be offered to KS patients from early puberty, to secure a proper masculine development, nonetheless the evidence is weak or nonexisting, since no randomized controlled trials have ever been published. Here, we will review the current knowledge of hypogonadism in KS and the rationale for testosterone treatment and try to give our best recommendations for surveillance of this rather common, but often ignored, syndrome.

关键词： androgen receptor body composition bone density hypogonadism infertility Klinefelter syndrome learning disorders male testosterone

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