Abstract
Klinefelter sendromu ilk tanımlanan kromozom bozukluğu olup
temel olarak hipergonadotropik hipogonadizm ve önükoid vücut yapısı ile
karakterizedir. Sıklığı 500-1000 canlı doğumda birdir. Klinefelter sendromunun
genel özelliklerini uzun boy, önükoid vücut yapısı, jinekomasti, azalmış testis
volümü, yetersiz yüz ve pubik kıllanma, kişilik ve davranış problemleri olarak
sıralayabiliriz. 47, XXY karyotipi olguların % 80’inde, 47, XXY dışı sayısal
kromozom bozuklukları ise tüm olguların %20’sinde gözlenmektedir. 48, XXYY
sendromu nadir görülen bir seks kromozom bozukluğudur.
Bazı bulguları ile Klinefelter sendromuna (47,XXY)
benzemekle birlikte, nöropsikiatrik belirtiler ve bir takım fenotipik bulgular
farklılık göstermektedir.
Bu çalışmada klinik değerlendirme ve sitogenetik analizle
48,XXYY sendromu tanısı konan bir olgu sunulmuştur. Bu olgu sunumunda
hipergonadotropik hipogonadizm ve uzun boy nedeniyle kliniğimize başvuran ve
konvansiyonel sitogenetik analiz sonucunda karyotipi 48, XXYY olarak saptanan
Klinefelter sendromlu bir hastanın klinik ve laboratuar bulguları litaratür
bilgileri ile sunulmuştur.
References
- 1. De Grouchy J, Turleau C: Clinical Atlas of Human Ch-romosomes 2nd Edition: 394-397,1984.
- 2. Sorensen K, Nielsen J, Jacobsen P, et al. The 48,XXYY syndrome. Ment Defic Res 1978;22:197-205.
- 3. Muldal S, Ockey CH. The 'double male': a new chromosome constitution in Klinefelter's syndrome. Lancet 1960;2:492-3.
- 4. Demirhan O. Clinical findings and phenotype in a toddler with 48,XXYY syndrome (letter). Am J Med Genet A 2003;119:393-4.
- 5. Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Na-ture.183(4657):302-3,1959.
- 6. Zamora L, Espinet B, Salido M, et al.: Report of 46, XX / 46, XY / 47, XXY / 48, XXYY mosaicism in an adult phenotypic male. Am J Med Genet. 111:215-7,2002.
- 7. Jockenhövel F: Male hypogonadism.UNI-MED Verlag, Bremen, Germany. 54,2004.
- 8. Dohle GR, Jungwirth A, Colpi G, et al.: Guidelines on Male Infertility EAU Update March, 2007.
- 9. Seo JT, Park YS, Lee JS: Successful testicular sperm extraction in Korean Klinefelter Syndrome. Urology 64:1208-1211,2004.
- 10. Park JS, Kim CS, Nam JY, Kim DM, et al.: Graves’ disease associated with Klinefelter’s syndrome. Yonsei Med J. 45:341-4,2004.
- 11. Talal N: Systemic lupus erythematosus, autoimmunity, sex and inheritance. (Editorial) New Eng. J. Med. 301:838-9,1979.
- 12. Swerdlow AJ, Schoemaker MJ, Higgins CD, et al.: Can-cer incidence and mortality in men with Klinefelter synd-rome: A cohort study. J Natl Cancer Inst. 97:1204-10,2005.
Abstract
References
- 1. De Grouchy J, Turleau C: Clinical Atlas of Human Ch-romosomes 2nd Edition: 394-397,1984.
- 2. Sorensen K, Nielsen J, Jacobsen P, et al. The 48,XXYY syndrome. Ment Defic Res 1978;22:197-205.
- 3. Muldal S, Ockey CH. The 'double male': a new chromosome constitution in Klinefelter's syndrome. Lancet 1960;2:492-3.
- 4. Demirhan O. Clinical findings and phenotype in a toddler with 48,XXYY syndrome (letter). Am J Med Genet A 2003;119:393-4.
- 5. Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Na-ture.183(4657):302-3,1959.
- 6. Zamora L, Espinet B, Salido M, et al.: Report of 46, XX / 46, XY / 47, XXY / 48, XXYY mosaicism in an adult phenotypic male. Am J Med Genet. 111:215-7,2002.
- 7. Jockenhövel F: Male hypogonadism.UNI-MED Verlag, Bremen, Germany. 54,2004.
- 8. Dohle GR, Jungwirth A, Colpi G, et al.: Guidelines on Male Infertility EAU Update March, 2007.
- 9. Seo JT, Park YS, Lee JS: Successful testicular sperm extraction in Korean Klinefelter Syndrome. Urology 64:1208-1211,2004.
- 10. Park JS, Kim CS, Nam JY, Kim DM, et al.: Graves’ disease associated with Klinefelter’s syndrome. Yonsei Med J. 45:341-4,2004.
- 11. Talal N: Systemic lupus erythematosus, autoimmunity, sex and inheritance. (Editorial) New Eng. J. Med. 301:838-9,1979.
- 12. Swerdlow AJ, Schoemaker MJ, Higgins CD, et al.: Can-cer incidence and mortality in men with Klinefelter synd-rome: A cohort study. J Natl Cancer Inst. 97:1204-10,2005.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | June 15, 2018 |
| Submission Date | March 29, 2018 |
| Published in Issue | Year 2018 Volume: 45 Issue: 2 |