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Abstract
RÉSUMÉ
Le syndrome de Klinefelter est dû à une anomalie chromosomique présentant une grande variabilité d’expression avec un signe constant, l’infertilité. . Il est lié à la présence d’un ou plusieurs chromosome (s) X supplémentaire(s) qui surajoute(nt) à la formule masculine 46, XY, aboutissant dans 80% des cas à la formule 47, XXY. Nous présentons ici le premier cas documenté de cette affection à Bamako.
ABSTRACT
Klinefelter syndrome is a chromosomal disroder characterized by one or more X chromosomes on the normal male formula 46, XY giving in 80% of cases a 47, XXY formula. The clinical expression is variable, but infertility is always present. It is We report the first documented case of this syndrome in Bamako.
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References
- - Klinefelter HF, Reifenstein EC, Albright F. « Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone » J Clin Endocrinol Metab. 1942, 2:615-627.
- - Jacobs PA, Strong JA « A case of human intersexuality having possible XXY sexdetermining mechanism » Nature 1959, 2:164-167.
- - Bojesen A, Juul S, Gravholt CH, « Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study » J Clin Endocrinol Metab. 2003;88:622-6
- - Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. « Klinefelter’s syndrome » Lancet 2004;364:273-83
- - Blevins CB, Wilson ME. « Klinefelter’s syndrome » BMJ 2012;345:e7558
- - Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA, « Mortality in patients with Klinefelter syndrome in Britain: a cohort study » [archive] J Clin Endocrinol Metab. 2005;90:6516-22
- - Sasco AJ, Lowenfels AB, Pasker-de Jong P. « Review article: epidemiology of male breast cancer. A meta-analysis of published case-control studies and discussion of selected aetiological factors » Int J Cancer. 1993;53:538-49. PMID 8436428
- - Campbell WA, Price WH. « Venous thromboembolic disease in Klinefelter’s syndrome » Clinical Genetics 1981;19:275-80. PMID 7273469
- - Jiang-Feng M, Hong-Li X, Xue-Yan W et al. « Prevalence and risk factors of diabetes in patients with Klinefelter syndrome: a longitudinal observational study » [archive] Fertil Steril. 2012;98:1331-5
References
- Klinefelter HF, Reifenstein EC, Albright F. « Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone » J Clin Endocrinol Metab. 1942, 2:615-627.
- Jacobs PA, Strong JA « A case of human intersexuality having possible XXY sexdetermining mechanism » Nature 1959, 2:164-167.
- Bojesen A, Juul S, Gravholt CH, « Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study » J Clin Endocrinol Metab. 2003;88:622-6
- Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. « Klinefelter’s syndrome » Lancet 2004;364:273-83
- Blevins CB, Wilson ME. « Klinefelter’s syndrome » BMJ 2012;345:e7558
- Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA, « Mortality in patients with Klinefelter syndrome in Britain: a cohort study » [archive] J Clin Endocrinol Metab. 2005;90:6516-22
- Sasco AJ, Lowenfels AB, Pasker-de Jong P. « Review article: epidemiology of male breast cancer. A meta-analysis of published case-control studies and discussion of selected aetiological factors » Int J Cancer. 1993;53:538-49. PMID 8436428
- Campbell WA, Price WH. « Venous thromboembolic disease in Klinefelter’s syndrome » Clinical Genetics 1981;19:275-80. PMID 7273469
- Jiang-Feng M, Hong-Li X, Xue-Yan W et al. « Prevalence and risk factors of diabetes in patients with Klinefelter syndrome: a longitudinal observational study » [archive] Fertil Steril. 2012;98:1331-5