Yıl: 2019 Cilt: 14 Sayı: 3 Sayfa Aralığı: 198 - 200 Metin Dili: Türkçe DOI: 10.33719/yud.557085 İndeks Tarihi: 27-04-2021

46 XX Testiküler Bozukluk Sendromu Olgusu

Öz:
‘’46 XX testiküler bozukluk’’ hastalığı genotip olarak 46 XX olup fenotip olarak erkekolan hastaları tanımlamaktadır. Bu hastalardanormal genital yapıdan ambiguus genitalyayakadar uzanan genital yapı farklılığı ile kendinigösterebilir. Bu olgumuzda infertilite nedeniyle tarafımıza başvuran 46 XX testiküler bozukluk sendromu olgusunu sunmayı amaçladık.
Anahtar Kelime:

46 XX Testicular Disorder Syndrome

Öz:
‘’46 XX testicular disorder ‘’ disease is 46 XX genotypes and describes male patients as phenotypes. In these patients, the genital structure extending from the normal genital structure to ambiguus genitalia may manifest itself. In this case, we aimed to present a case of 46 XX testicular disorder who applied to us because of infertility
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
  • 1. Forti, Gianni, and Csilla Krausz. Evaluation and treatment of the infertile couple. The Journal of Clinical Endocrinology & Metabolism 1998;83.12:4177-88.
  • 2. Hughes, Ieuan A., et al. Consensus statement on management of intersex disorders. Journal of pediatric urology 2006; 2.3:148-62.
  • 3. Ergun-Longmire, Berrin, et al. Clinical, hormonal and cytogenetic evaluation of 46, XX males and review of the literature. Journal of Pediatric Endocrinology and Metabolism 2005;739-48.
  • 4. De la Chapelle, Albert. The etiology of maleness in XX men. Human genetics 1981; 58.1: 105-16.
  • 5. Zenteno-Ruiz, Juan Carlos, Susana Kofman-Alfaro, and Juan Pablo Méndez. 46, XX sex reversal. Archives of Medical Research 2001; 32.6: 559-66.
  • 6. Anık A, Çatlı G, Abacı A, et al. 46, XX male disorder of sexual development: a case report. Journal of clinical research in pediatric endocrinology 2013; 5.4: 258.
  • 7. Fechner P, Marcantonio S, Jaswaney V, et al. The role of the sex-determining region Y gene in the etiology of 46, XX maleness. The Journal of Clinical Endocrinology & Metabolism 1993;76.3: 690-5
  • 8. Cox J, Willatt L, Tessa H, et al. A SOX9 duplication and familial 46, XX developmental testicular disorder. New England Journal of Medicine 2011;364.1: 91-3.
  • 9. Moalem S, Riyana B, Dimitri J, et al. XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. American Journal of Medical Genetics Part A 2012;158.7: 1759-64.
  • 10. Vetro A, Roberto C, Roberto G, et al. XX males SRY negative: a confirmed cause of infertility. Journal of medical genetics 2011;48.10: 710-2.
  • 11. Jäger R,Vincent R, Rudolf A, et al. A familial mutation in the testis-determining gene SRY shared by both sexes. Human genetics 1992; 90.4 : 350-5.
  • 12. Akinsal E, Baydilli N, Demirtaş A, et al. Ten cases with 46, XX testicular disorder of sex development: single center experience. International braz j urol 2017;43.4:770-5.
  • 13. Zenteno J,Marisol L, Clementina V, et al. Two SRY-negative XX male brothers without genital ambiguity. Human genetics 1997;100.5-6:606-10.
  • 14. Abdelmoula N, Marie P, Leila K, et al. Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature. Annales de genetique. Vol. 46. No. 1. Elsevier Masson 2003.
  • 15. Uçan B, Özbek M, Topaloğlu O, et al. 46, XX Erkek Sendromu. Turk Jem 2013;17:46-8.
APA Demir M, eryılmaz r, ASLAN R (2019). 46 XX Testiküler Bozukluk Sendromu Olgusu. , 198 - 200. 10.33719/yud.557085
Chicago Demir Murat,eryılmaz recep,ASLAN Rahmi 46 XX Testiküler Bozukluk Sendromu Olgusu. (2019): 198 - 200. 10.33719/yud.557085
MLA Demir Murat,eryılmaz recep,ASLAN Rahmi 46 XX Testiküler Bozukluk Sendromu Olgusu. , 2019, ss.198 - 200. 10.33719/yud.557085
AMA Demir M,eryılmaz r,ASLAN R 46 XX Testiküler Bozukluk Sendromu Olgusu. . 2019; 198 - 200. 10.33719/yud.557085
Vancouver Demir M,eryılmaz r,ASLAN R 46 XX Testiküler Bozukluk Sendromu Olgusu. . 2019; 198 - 200. 10.33719/yud.557085
IEEE Demir M,eryılmaz r,ASLAN R "46 XX Testiküler Bozukluk Sendromu Olgusu." , ss.198 - 200, 2019. 10.33719/yud.557085
ISNAD Demir, Murat vd. "46 XX Testiküler Bozukluk Sendromu Olgusu". (2019), 198-200. https://doi.org/10.33719/yud.557085
APA Demir M, eryılmaz r, ASLAN R (2019). 46 XX Testiküler Bozukluk Sendromu Olgusu. Yeni Üroloji Dergisi, 14(3), 198 - 200. 10.33719/yud.557085
Chicago Demir Murat,eryılmaz recep,ASLAN Rahmi 46 XX Testiküler Bozukluk Sendromu Olgusu. Yeni Üroloji Dergisi 14, no.3 (2019): 198 - 200. 10.33719/yud.557085
MLA Demir Murat,eryılmaz recep,ASLAN Rahmi 46 XX Testiküler Bozukluk Sendromu Olgusu. Yeni Üroloji Dergisi, vol.14, no.3, 2019, ss.198 - 200. 10.33719/yud.557085
AMA Demir M,eryılmaz r,ASLAN R 46 XX Testiküler Bozukluk Sendromu Olgusu. Yeni Üroloji Dergisi. 2019; 14(3): 198 - 200. 10.33719/yud.557085
Vancouver Demir M,eryılmaz r,ASLAN R 46 XX Testiküler Bozukluk Sendromu Olgusu. Yeni Üroloji Dergisi. 2019; 14(3): 198 - 200. 10.33719/yud.557085
IEEE Demir M,eryılmaz r,ASLAN R "46 XX Testiküler Bozukluk Sendromu Olgusu." Yeni Üroloji Dergisi, 14, ss.198 - 200, 2019. 10.33719/yud.557085
ISNAD Demir, Murat vd. "46 XX Testiküler Bozukluk Sendromu Olgusu". Yeni Üroloji Dergisi 14/3 (2019), 198-200. https://doi.org/10.33719/yud.557085