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Klinefelter syndrome

Started by mensfe_admin, 2013-07-13 10:18

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J Clin Endocrinol Metab. 2013 Jan;98(1):20-30. doi: 10.1210/jc.2012-2382. Epub 2012 Nov 1.

Clinical review: Klinefelter syndrome--a clinical update.

Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A.


Department of Molecular Medicine, Aarhus University Hospital, DK-8000 Aarhus C, Denmark.



Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries.


PubMed was searched for "Klinefelter," "Klinefelter's," and "XXY" in titles and abstracts. Relevant papers were obtained and reviewed, as well as other articles selected by the authors.


KS is the most common sex chromosome disorder in males, affecting one in 660 men. The genetic background is the extra X-chromosome, which may be inherited from either parent. Most genes from the extra X undergo inactivation, but some escape and serve as the putative genetic cause of the syndrome. KS is severely underdiagnosed or is diagnosed late in life, roughly 25% are diagnosed, and the mean age of diagnosis is in the mid-30s. KS is associated with an increased morbidity resulting in loss of approximately 2 yr in life span with an increased mortality from many different diseases. The key findings in KS are small testes, hypergonadotropic hypogonadism, and cognitive impairment. The hypogonadism may lead to changes in body composition and a risk of developing metabolic syndrome and type 2 diabetes. The cognitive impairment is mainly in the area of language processing. Boys with KS are often in need of speech therapy, and many suffer from learning disability and may benefit from special education. Medical treatment is mainly testosterone replacement therapy to alleviate acute and long-term consequences of hypogonadism as well as treating or preventing the frequent comorbidity.


More emphasis should be placed on increasing the rate of diagnosis and generating evidence for timing and dose of testosterone replacement. Treatment of KS should be a multidisciplinary task including pediatricians, speech therapists, general practitioners, psychologists, infertility specialists, urologists, and endocrinologists.

PMID: 23118429  [PubMed - indexed for MEDLINE]



Mol Hum Reprod. 2010 Jun;16(6):418-24. doi: 10.1093/molehr/gaq022. Epub 2010 Mar 26.

Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function.

Vignozzi L, Corona G, Forti G, Jannini EA, Maggi M.


Sexual Medicine and Andrology Unit, Endocrinology Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy.


Klinefelter's syndrome (KS) is the most common sex chromosomal aberration among men, with estimated prevalence of about 1 in 500 newborn males. The classical phenotype of KS is widely recognized, but many affected subjects present only very mild signs. While the association between KS and infertility has been well documented, few studies have investigated sexual function in the KS patients. In the present paper we reviewed studies addressed to emotional processing and sexual function in KS. We searched the following databases Medline, Pubmed, Embase, for Klinefelter's syndrome, sexuality. We focus on the peculiar contribution of genetic and hormonal background, which characterizes sexual dysfunction in KS. Abnormal structure and function of the emotional brain circuits have been described in KS. These alterations were less pronounced when the patients underwent to testosterone replacement therapy suggesting that they were mediated by testosterone deficiency. Accordingly, clinical studies indicate that sexual dysfunctions, eventually present in KS, are not specifically associated with the syndrome but are related to the underlying hypogonadism. In conclusion, androgen deficiency more than chromosomal abnormality is the major pathogenic factor of sexual dysfunction in KS.

PMID: 20348547  [PubMed - indexed for MEDLINE]  Free full text


Int J Androl. 2010 Aug 1;33(4):574-80. doi: 10.1111/j.1365-2605.2009.00986.x. Epub 2009 Sep 25.

Sexual dysfunction in subjects with Klinefelter's syndrome.

Corona G, Petrone L, Paggi F, Lotti F, Boddi V, Fisher A, Vignozzi L, Balercia G, Sforza A, Forti G, Mannucci E, Maggi M.


Andrology Unit and Endocrinology Department of Clinical Physiopathology, University of Florence, 50139 Florence, Italy.


While the association of Klinefelter's Syndrome (KS) with infertility is well-known, very few investigations have evaluated the prevalence of sexual dysfunction in KS. The aim of the present study was to systematically analyse the prevalence of KS in a consecutive series of adult male patients consulting for sexual problems and to investigate its specific correlates. Among a consecutive series of 1386 men (mean age 48.9 +/- 12.7 years old), 23 (1.7%) subjects with KS were found. Patients with KS were younger and more often hypogonadal when compared with the rest of the sample. Among patients with KS, five (22.7%) subjects reported severe erectile dysfunction, 14 (60.9%) hypoactive sexual desire (HSD), two (9.5%) premature and two (9.5%) delayed ejaculation. Only the association between KS and HSD was confirmed after adjustment for age [HR = 3.2 (1.37-7.5)], however, when patients with KS were compared with age, smoking habit, and testosterone matched controls, even the association between KS with HSD disappeared. In comparison to matched hypogonadal controls, subjects with KS had lower levels of education, a higher frequency of cryptorchidism and poorer pubertal progression. In conclusion, our results indicate that sexual dysfunction present in KS is not specifically associated with the syndrome but is caused by the underlying hypogonadal state. Further studies are needed to evaluate the efficacy of testosterone substitution in ameliorating the hypoactive sexual desire often reported in subjects with KS.

PMID: 19780865  [PubMed - indexed for MEDLINE]


Product Details

Klinefelter Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker (18 Jul 2007)
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