Abstract
ÖZET
Giriş: Fankoni Aplastik Anemisi, çeşitli konjenital malformasyonlar, progresif pansitopeni ve genellikle hematolojik malignitelere yatkınlık ile karakterize genetik olarak çoğunlukla otozomal resesif olarak geçen bir hastalıktır. Konjenital anomaliler hastadan hastaya değişir ve başta iskelet malformasyonlarının yanı sıra ana organ sistemlerinden herhangi birini etkileyebilir. Klinefelter sendromu erkek hipogonadizminin en yaygın genetik formudur ve en sık görülen karyotip 47, XXY'dir.
Vaka Sunumu: Halsizlik ve solukluk şikayetleri ile başvuran 9 yaşında erkek hastanın fizik muayenesinde kilo, boy ve baş çevresi ölçümleri %3’ün altında, mikroftalmik görünümde idi, diğer sistem muayeneleri normaldi. Ancak, testis volümlerinin yaşına göre küçük olduğu fark edildi. Kromozomal incelemeler sonucunda 47, XXY Klinefelter Sendromu tanısı koyulan hastaya, aynı zamanda kemik iliği incelemesi ve DEB testi ile Fankoni Aplastik Anemisi tanısı da konularak tedavi süreci başlatılmıştır.
Sonuç: Yapılan tetkikler değerlendirildiğinde, oldukça nadir olarak görülen Klinefelter Sendromu ve Fankoni Aplastik Anemisi birlikteliği saptanmıştır.
Anahtar Kelimeler: Klinefelter Sendromu; Fankoni Aplastik Anemisi; Kemik İliği
References
- Aksglæde, L., Skakkebæk, N. E., Almstrup, K., & Juul, A. (2011). Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. Acta paediatrica, 100(6), 793-806.
- Auerbach, A. D. (2009). Fanconi anemia and its diagnosis. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 668(1-2), 4-10. Bojesen, A., & Gravholt, C. H. (2007). Klinefelter syndrome in clinical practice. Nature Clinical Practice Urology, 4(4), 192-204.
- Cutolo, M., Sulli, A., & Straub, R. H. (2012). Estrogen metabolism and autoimmunity. Autoimmunity reviews, 11(6-7), A460-A464.
- Lanfranco, F., Kamischke, A., Zitzmann, M., & Nieschlag, E. (2004). Klinefelter's syndrome. The Lancet, 364(9430), 273-283.
- Nassau, D. E., Best, J. C., Cohen, J., Gonzalez, D. C., Alam, A., & Ramasamy, R. (2021). Androgenization in Klinefelter syndrome: Clinical spectrum from infancy through young adulthood. Journal of pediatric urology, 17(3), 346-352.
- Sawalha, A. H., Harley, J. B., & Scofield, R. H. (2009). Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes. Journal of autoimmunity, 33(1), 31-34.
- Xu, C., Zhang, C. Y., Chen, N., Sun, X., Xiao, Y., Gao, L., & Zhao, J. J. (2011). A case of Klinefelter syndrome with aplastic anemia. International journal of hematology, 93(2), 213-215.
Abstract
ABSTRACT
Introduction: Fanconi Aplastic Anemia is a genetically mostly autosomal recessive disease characterized by various congenital malformations, progressive pancytopenia and a predisposition to hematological malignancies. Congenital anomalies vary from patient to patient and can affect any of the major organ systems, primarily skeletal malformations. Klinefelter syndrome is the most common genetic form of male hypogonadism and the most common karyotype is 47, XXY.
Case Report: In the physical examination of a 9-year-old male patient who applied with complaints of weakness and pallor, his weight, height and head circumference measurements were below 3%, microphthalmic in appearance, and other system examinations were normal. However, it was noticed that the testicular volumes were small for their age. The patient, who was diagnosed with 47, XXY Klinefelter Syndrome as a result of chromosomal examinations, was also diagnosed with Fanconi Aplastic Anemia by bone marrow examination and DEB test, and the treatment process was initiated.
Conclusion: When the examinations were evaluated, the association of Klinefelter Syndrome and Fanconi Aplastic Anemia, which is very rare, was detected.
Keywords: Klinefelter Syndrome, Fanconi Aplastic Anemia, Bone Marrow
References
- Aksglæde, L., Skakkebæk, N. E., Almstrup, K., & Juul, A. (2011). Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. Acta paediatrica, 100(6), 793-806.
- Auerbach, A. D. (2009). Fanconi anemia and its diagnosis. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 668(1-2), 4-10. Bojesen, A., & Gravholt, C. H. (2007). Klinefelter syndrome in clinical practice. Nature Clinical Practice Urology, 4(4), 192-204.
- Cutolo, M., Sulli, A., & Straub, R. H. (2012). Estrogen metabolism and autoimmunity. Autoimmunity reviews, 11(6-7), A460-A464.
- Lanfranco, F., Kamischke, A., Zitzmann, M., & Nieschlag, E. (2004). Klinefelter's syndrome. The Lancet, 364(9430), 273-283.
- Nassau, D. E., Best, J. C., Cohen, J., Gonzalez, D. C., Alam, A., & Ramasamy, R. (2021). Androgenization in Klinefelter syndrome: Clinical spectrum from infancy through young adulthood. Journal of pediatric urology, 17(3), 346-352.
- Sawalha, A. H., Harley, J. B., & Scofield, R. H. (2009). Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes. Journal of autoimmunity, 33(1), 31-34.
- Xu, C., Zhang, C. Y., Chen, N., Sun, X., Xiao, Y., Gao, L., & Zhao, J. J. (2011). A case of Klinefelter syndrome with aplastic anemia. International journal of hematology, 93(2), 213-215.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Clinical Sciences |
| Journal Section | Olgu Sunumu |
| Authors | |
| Publication Date | December 29, 2022 |
| Submission Date | July 8, 2022 |
| Acceptance Date | September 14, 2022 |
| Published in Issue | Year 2022 Volume: 3 Issue: 3 |
