Öz

Klinefelter Sendromu (KS), erkek karyotipinde (46,XY), fazladan en az bir X kromozomunun bulunması sonucu ortaya çıkan klinik bir tablodur. Klinefelter sendromlu olgularda arteriyel ve venöz tromboembolizm sıklığı yüksek olarak bildirilmekle birlikte tromboembolizm gelişmesine etki eden değişkenler ayrıntılı ve tutarlı olarak tanımlanmamıştır. Bu yazıda trombositozu olan Klinefelter sendromlu (47,XXY) bir olgu sunulmuştur. Olgunun 3 aylık olduğu dönemde, üst solunum yolu enfeksiyonu sırasında trombosit sayısı 900x109 /L olarak bulunmuştur. Olgunun bir yıllık izleminde trombosit sayısı enfeksiyon olmayan dönemlerde de normal değerlerin üzerinde saptanmıştır. Bu nedenle trombositozun Klinefelter sendromlu olgularda tromboembolik olayların etyolojisindeki faktörlerden birisi olabileceğinden, tromboembolizmin engellenmesine yönelik olarak trombositoz dikkate alınmalıdır.

Anahtar Kelimeler: Klinefelter sendromu, trombositoz

Referanslar

  1. Geschwind DH, Boone KB, Miller BL, Swerdloff RS. Neurobehavioral phenotype of Klinefelter syndrome. Ment Retard Dev Disabil Res Rev. 2000;6:107-116.
  2. Wattendorf DJ, Muenke M. Klinefelter syndrome. Am Fam Physician. 2005;72:2259-2262.
  3. Rappaport R. Disorders of the Gonads. In: Kliegmen RM, Behrman RE, Stanton BF (eds). Nelson Textbook of Pediatrics. 18th ed. Philadelphia: WB Saunders Company, 2007:2374-2384.
  4. Machatschek JN, Schrauder A, Helm F, Schrappe M, Claviez A. Acute lymphoblastic leukemia and Klinefelter syndrome in children: two ca- ses and review of the literature. Pediatr Hematol Oncol. 2004;21:621- 626.
  5. Keung YK, Buss D, Chauvenet A, Pettenati M. Hematologic ma- lignancies and Klinefelter syndrome, a chance association?. Cancer Genet Cytogenet. 2002;139:9-13.
  6. Horsman DE, Pantzar JT, Dill FJ, Kalousek DK. Klinefelter’s syndro- me and acute leukemia. Cancer Genet Cytogenet. 1987;26:375-376.
  7. Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA; United Kingdom Clinical Cytogenetics Group. Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J Clin Endocrinol Metab. 2005;90:6516-6522.
  8. Ozbek M, Oztürk MA, Ureten K, Ceneli O, Erdogan M, Haznedaroglu IC. Severe arterial thrombophilia associated with a homozygous MTFHR gene mutation (A1298C) in a young man with Klinefelter syndrome. Clin Appl Thromb Hemost. 2008;14: 369-371.
  9. Dame C, Sutor AH. Primary and secondary thrombocytosis in child- hood. Br J Haematol. 2005;129:165-177.
  10. Sutor AH. Trombocytosis, In: Lilleyman JS, Hann IM ,Blanchette VS (eds). Pediatric Hematology. 2nd ed. London:Churchill Livingston 1999:455-464.
  11. Mantadakis E, Tsalkidis A, Chatzimicheal A. Thrombocytosis in childhood. Indian Pediatr. 2008;45:669-677.
  12. Yamauchi K. Myelodysplastic syndrome with thrombocytosis in a patient with Klinefelter’s syndrome. Acta Haematol. 1993;89:43-45.
  13. Phebus CK, Berg SL. Acute megakaryoblastic leukemia and Klinefelter’s syndrome. Am J Pediatr Hematol Oncol. 1986;8:260- 262.
  14. Klein HG, Kessler C, Anderson KC, Loomis KF. Multiple arterial and venous thromboemboli in a man with chronic myelogenous leukemia and occult metastatic breast carcinoma: the significance of throm- bocythemia. South Med J. 1982;75:745-747.
  15. Campwell WA, Price WH. Venous thromboembolic disease in Klinefelter’s syndrome. Clin Genet. 1981;19:275-280.
  16. Ranganath LR, Jones L, Lim AG, Gould SR, Goddard PF. Thrombophilia in a man with long - standing hypogonadism. Postgrad Med. 1997; 73:761-763.
  17. Dissemond J, Knab J, Lehnen M, Goos M. Increased activity of factor VII coagulant associated with venous ulcer in a patient with Klinefelter’s syndrome. J Eur Acad Dermatol Venerol. 2005;19:240- 242.

Nasıl atıf yapılır

1.
Üçkardeş Y. Klinefelter Sendromlu Bir Olguda Trombositoz. Turk J Pediatr Dis [Internet]. 2010 Apr. 1 [cited 2025 May 25];4(4):240-4. Available from: https://turkjpediatrdis.org/article/view/123