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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

 

• 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

• 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

• 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

• Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

• 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

• 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