Klinefelter sendromu
Spontan (46,XY; 47,XXY; 48,XXXY; 49,XXXXY)
Testosteron düzeyi düşük
Erkek çocuklarında daha fazla
Puberteyle ortaya çıkar (puberte gecikir)
Vücut ince-yaşıtlarından uzun
Mikrosefali
Silindirik yüz
Prognatizm (altçene/üstçene)
Yarık damak
Maloklüzyon
Periodontal patolojiler
Taurodontism
Testisler küçük (azospermi)
Prostat küçük
Vücut kılları seyrek
Penis normal/hafif küçük
Ekstragonadal germ hücreli tümör riski (pineal doku, presakral bölge, mesane, prostat, karaciğer)
Varisler
Meme ca riski
Psikomotor gerilik
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Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. Clinical Pediatrics (Philadelphia), 40(12):639-651, 2001
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Staessen C, Tournaye H, Van Assche E, et al. PGD in 47,XXY Klinefelter's syndrome patients. Human Reproduction Update, 9(4):319-330, 2003
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Groth KA, Skakkebæk A, Høst C, et al. Clinical review: Klinefelter syndrome - a clinical update. The Journal of Clinical Endocrinology and Metabolism, 98(1):20-30, 2013
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Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
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Salzano A, Arcopinto M, Marra AM, et al. Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives. European Journal of Clinical Endocrinology, 175(1):R27-40, 2016
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Bonomi M, Rochira V, Pasquali D, et al. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. Journal of Endocrinological Investigation, 40(2):123-134, 2017