SavedAdd your journal

Journals / Yeni Üroloji Dergisi / 2019 / Volume: 14 Issue: 3

46 XX Testicular Disorder Syndrome

46 XX Testiküler Bozukluk Sendromu Olgusu

Murat Demir(SBÜ. VAN EĞİTİM VE ARAŞTIRMA HASTANESİ)0000-0001-5029-8800
Recep Eryılmaz(VAN YÜZÜNCÜ YIL ÜNİVERSİTESİ)0000-0002-4506-8784
Rahmi Aslan(YÜZÜNCÜ YIL ÜNİVERSİTESİ)0000-0002-4563-0386
Pages
—
Publication Date
2019-10-01
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this case, we aimed to present a case of 46 XX testicular disorder who applied to us because of infertility.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:‘’46 XX testicular disorder ‘’ disease is 46 XX genotypes and describes male patients as phenotypes.
📊
Key Findings & Data:In these patients, the genital structure extending from the normal genital structure to ambiguus genitalia may manifest itself.
💡
Conclusion & Impact:In this case, we aimed to present a case of 46 XX testicular disorder who applied to us because of infertility.
🔬Design:Case Report
📍Scope:Comprehensive Sample
⚙️Variables:infertility · testicular · disorder

Abstract

‘’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.

Özet

''XX Erkek Sendromu '' hastalığı genotip olarak 46 XX olup fenotip olarak erkek olan hastaları tanımlamaktadır. Bu hastalığın SRY geninin bulunması halinde gerçek hermafroditizm denen durum ortaya çıkar.Bu olgumuzda infertilite nedeniyle tarafımıza başvuran 46 XX SRY + olgusunu sunmayı amaçladık.

🔖

Cite This Article

Demir, M., Eryılmaz, R., Aslan, R. (2019). 46 XX Testicular Disorder Syndrome. Yeni Üroloji Dergisi, Volume: 14 Issue: 3. https://doi.org/10.33719/yud.557085

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (16)

  1. Forti, Gianni, and Csilla Krausz. "Evaluation and treatment of the infertile couple." The Journal of Clinical Endocrinology & Metabolism 83.12 (1998): 4177-4188.
  2. Hughes, Ieuan A., et al. "Consensus statement on management of intersex disorders." Journal of pediatric urology 2.3 (2006): 148-162.
  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 Metabolism18.8 (2005): 739-748.
  4. De la Chapelle, Albert. "The etiology of maleness in XX men." Human genetics 58.1 (1981): 105-116.
  5. Zenteno-Ruiz, Juan Carlos, Susana Kofman-Alfaro, and Juan Pablo Méndez. "46, XX sex reversal." Archives of Medical Research 32.6 (2001): 559-566.
  6. Anık, Ahmet, et al. "46, XX male disorder of sexual development: a case report." Journal of clinical research in pediatric endocrinology 5.4 (2013): 258.
  7. Fechner, Patricia Y., et al. "The role of the sex-determining region Y gene in the etiology of 46, XX maleness." The Journal of Clinical Endocrinology & Metabolism 76.3 (1993): 690-695.
  8. Cox, James J., et al. "A SOX9 duplication and familial 46, XX developmental testicular disorder." New England Journal of Medicine 364.1 (2011): 91-93.
  9. Moalem, Sharon, et al. "XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication." American Journal of Medical Genetics Part A 158.7 (2012): 1759-1764.
  10. Vetro, Annalisa, et al. "XX males SRY negative: a confirmed cause of infertility." Journal of medical genetics 48.10 (2011): 710-712.
  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, Emre Can, et al. "Ten cases with 46, XX testicular disorder of sex development: single center experience." International braz j urol 43.4 (2017): 770-775.
  13. Zenteno, Juan Carlos, et al. "Two SRY-negative XX male brothers without genital ambiguity." Human genetics 100.5-6 (1997): 606-610.
  14. Abdelmoula, Nouha Bouayed, 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, Bekir, et al. "46, XX Erkek Sendromu." Turk Jem 17 (2013): 46-8.
  16. 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.