NDLI: The role of hypogonadism in Klinefelter syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Høst, Christian Skakkebæk, Anne Groth, Kristian A. Bojesen, Anders
Description	Author Affiliation: Bojesen A ( Department of Clinical Genetics, Vejle Hospital, Vejle)
Abstract	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 diffi cult 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 both 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.
File Format	HTM / HTML
ISSN	1008682X
e-ISSN	17457262
DOI	10.4103/1008-682X.122201
Journal	Asian Journal of Andrology
Issue Number	2
Volume Number	16
Language	English
Publisher	Wolters Kluwer - Medknow
Publisher Date	2014-03-01
Publisher Place	China
Access Restriction	Open
Subject Keyword	Discipline Urology Hypogonadism Etiology Klinefelter Syndrome Complications Body Composition Brain Physiopathology Cognition Fertility Hormone Replacement Therapy Metabolism Insulin Resistance Osteoporosis Testis Testosterone Administration & Dosage
Content Type	Text
Resource Type	Article
Subject	Urology

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