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Klinefelter Sendromlu Bir Olguda Trombositoz

Year 2010, Volume: 4 Issue: 4, 240 - 244, 01.04.2010

Abstract

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.

References

  • Geschwind DH, Boone KB, Miller BL, Swerdloff RS. Neurobehavioral phenotype of Klinefelter syndrome. Ment Retard Dev Disabil Res Rev. 2000;6:107-116.
  • Wattendorf DJ, Muenke M. Klinefelter syndrome. Am Fam Physician. 2005;72:2259-2262.
  • 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.
  • 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.
  • Keung YK, Buss D, Chauvenet A, Pettenati M. Hematologic ma- lignancies and Klinefelter syndrome, a chance association?. Cancer Genet Cytogenet. 2002;139:9-13.
  • Horsman DE, Pantzar JT, Dill FJ, Kalousek DK. Klinefelter’s syndro- me and acute leukemia. Cancer Genet Cytogenet. 1987;26:375-376.
  • 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.
  • 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.
  • Dame C, Sutor AH. Primary and secondary thrombocytosis in child- hood. Br J Haematol. 2005;129:165-177.
  • Sutor AH. Trombocytosis, In: Lilleyman JS, Hann IM ,Blanchette VS (eds). Pediatric Hematology. 2nd ed. London:Churchill Livingston 1999:455-464.
  • Mantadakis E, Tsalkidis A, Chatzimicheal A. Thrombocytosis in childhood. Indian Pediatr. 2008;45:669-677.
  • Yamauchi K. Myelodysplastic syndrome with thrombocytosis in a patient with Klinefelter’s syndrome. Acta Haematol. 1993;89:43-45.
  • Phebus CK, Berg SL. Acute megakaryoblastic leukemia and Klinefelter’s syndrome. Am J Pediatr Hematol Oncol. 1986;8:260- 262.
  • 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.
  • Campwell WA, Price WH. Venous thromboembolic disease in Klinefelter’s syndrome. Clin Genet. 1981;19:275-280.
  • Ranganath LR, Jones L, Lim AG, Gould SR, Goddard PF. Thrombophilia in a man with long - standing hypogonadism. Postgrad Med. 1997; 73:761-763.
  • 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.

THROMBOCYTOSIS IN A PATIENT WITH KLINEFELTER SYNDROMES

Year 2010, Volume: 4 Issue: 4, 240 - 244, 01.04.2010

Abstract

Klinefelter syndrome is caused by an additional X chromosome in male karyotype (46, XY). Arterial and venous thromboses are commonly seen in subjects with Klinefelter syndrome. The etiological parameters of thrombosis have not been defi ned in detail in subjects with Klinefelter syndrome. In this report we present a patient with Klinefelter syndrome (47, XXY) who had thrombocytosis. His thrombocyte count was 900x109/L when he was 3 months old and suffered from an upper respiratory tract infection. His trombocyte count has remained over 350x109/L in one year follow up even when there is no infection. In Klinefelter syndromes, thrombocytosis should be evaluated in order to prevent thrombotic disorders

References

  • Geschwind DH, Boone KB, Miller BL, Swerdloff RS. Neurobehavioral phenotype of Klinefelter syndrome. Ment Retard Dev Disabil Res Rev. 2000;6:107-116.
  • Wattendorf DJ, Muenke M. Klinefelter syndrome. Am Fam Physician. 2005;72:2259-2262.
  • 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.
  • 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.
  • Keung YK, Buss D, Chauvenet A, Pettenati M. Hematologic ma- lignancies and Klinefelter syndrome, a chance association?. Cancer Genet Cytogenet. 2002;139:9-13.
  • Horsman DE, Pantzar JT, Dill FJ, Kalousek DK. Klinefelter’s syndro- me and acute leukemia. Cancer Genet Cytogenet. 1987;26:375-376.
  • 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.
  • 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.
  • Dame C, Sutor AH. Primary and secondary thrombocytosis in child- hood. Br J Haematol. 2005;129:165-177.
  • Sutor AH. Trombocytosis, In: Lilleyman JS, Hann IM ,Blanchette VS (eds). Pediatric Hematology. 2nd ed. London:Churchill Livingston 1999:455-464.
  • Mantadakis E, Tsalkidis A, Chatzimicheal A. Thrombocytosis in childhood. Indian Pediatr. 2008;45:669-677.
  • Yamauchi K. Myelodysplastic syndrome with thrombocytosis in a patient with Klinefelter’s syndrome. Acta Haematol. 1993;89:43-45.
  • Phebus CK, Berg SL. Acute megakaryoblastic leukemia and Klinefelter’s syndrome. Am J Pediatr Hematol Oncol. 1986;8:260- 262.
  • 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.
  • Campwell WA, Price WH. Venous thromboembolic disease in Klinefelter’s syndrome. Clin Genet. 1981;19:275-280.
  • Ranganath LR, Jones L, Lim AG, Gould SR, Goddard PF. Thrombophilia in a man with long - standing hypogonadism. Postgrad Med. 1997; 73:761-763.
  • 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.
There are 17 citations in total.

Details

Other ID JA52MC44KZ
Journal Section Case Report
Authors

Yasemin Üçkardeş This is me

Publication Date April 1, 2010
Submission Date April 1, 2010
Published in Issue Year 2010 Volume: 4 Issue: 4

Cite

Vancouver Üçkardeş Y. THROMBOCYTOSIS IN A PATIENT WITH KLINEFELTER SYNDROMES. Türkiye Çocuk Hast Derg. 2010;4(4):240-4.


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