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46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu

Year 2015, Volume: 4 Issue: 2, 23 - 26, 01.10.2015

Abstract

46,XX testiküler bozukluk nadir görülen bir genetik sendromdur. Memelilerde cinsiyet belirleyici bölge Y kromozomunda bulunmaktadır ve erkek fenotipinin gelişiminden sorumlu olan faktörün kodlanmasında büyük rol oynamaktadır. Bu çalışmada infertilite nedeniyle hastanemize başvuran yetişkin erkek hastanın klinik bulguları ile beraber hormonal, moleküler ve sitogenetik analiz sonuçları değerlendirilip sunulmuştur. Yapılan çalışmalar sonucunda 46,XX karyotipine ulaşılmış ve SRY bölgesinin varlığı ile birlikte AZFa sY84 sY86 , AZFb sY127, sY133, sY134 , AZFc sY157, sY254, sY255 ve AZFd sY152, Sy153 bölgelerinde delesyon saptanmıştır. Ayrıca, Xp11.1-q11.1, Yp11.31, Yq12 bölgelerine özgü FISH probları kullanılarak yapılan analizde hastanın iki X kromozomunu ve SRY bölgesini taşıdığı belirlenmiştir. Y kromozomunda bulunan SRY geni ve AZF gen bölgeleri, erkek cinsiyeti ve fertilitenin belirlenmesinde birinci derecede rol oynamaktadır. Sonuç olarak, 46,XX karyotipli erkek hastalarda sitogenetikle birlikte moleküler genetik ve moleküler sitogenetik analizlerin yapılması ve bu analizler ışığında genetik danışma verilmesi büyük önem taşımaktadır

References

  • 1. Bekir Uçan, Mustafa Özbek, Oya Topaloğlu, Ahmet Yeşilyurt, Aşkın Güngüneş, Taner Demirci, Tuncay Delibaşı. 46,XX Erkek Sendromu. Turk Jem 2013; 17: 46-8.
  • 2. Ahmet Anık, Gönül Çatlı, Ayhan Abacı, Ece Böber. 46,XX Male Disorder of Sexual Development: A Case Report. J Clin Res Pediatr Endocrinol 2013; 5 (4): 258- 60.
  • 3. Wu QY, Li N, Li WW, Li TF, Zhang C, Cui YX, Xia XY, Zhai JS. Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive. BMC Urol 2014; 14: 70.
  • 4. Li TF, Wu QY, Zhang C, Li WW, Zhou Q, Jiang WJ, Cui YX, Xia XY, Shi YC. 46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literatüre. BMC Urol 2014; 14: 104.
  • 5. Gao X, Chen G, Huang J, Bai Q, Zhao N, Shao M, Jiao L, Wei Y, Chang L, Li D, Yang L. Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports. J Assist Reprod Genet. 2013; 30 (3): 431-5.
  • 6. Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K. SRY-negative 46,XX male with normal genitals, complete masculinization and infertility. Mol Hum Reprod 2006; 12 (5): 341-6.
  • 7. Agrawala RK, Choudhury AK, Mohanty BK, Baliarsinha AK. All males do not have 46 xy karyotype: A rare case report. Indian J Endocrinol Metab 2013; 17 (Suppl 1): 271-3.
  • 8. Mizuno K, Kojima Y, Kamisawa H, Moritoki Y, Nishio H, Kohri K, Hayashi Y. Gene Expression Profile During Testicular Development in Patients With SRYnegative 46,XX Testicular Disorder of Sex Development. Urology 2013; 82 (6): 1453. e1-7.
  • 9. Gruber CJ, Hengstschläger M, Wieser F, Gruber DM, Walch K, Ferlitsch K, Gruber IM, Maar A, Marton E, Bernaschek G, Huber JC. Absence of microdeletions in the azoospermia-factor region of the Y-chromosome in Viennese men seeking assisted reproduction. Wien Klin Wochenschr 2003; 115 (23): 831-4.
  • 10. Kim MJ, Choi HW, Park SY, Song IO, Seo JT, Lee HS. Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men. J Assist Reprod Genet 2012; 29 (6): 539- 46.
  • 11. Zhang YS, Dai RL, Wang RX, Zhang HG, Chen S, Liu RZ. Analysis of Y Chromosome Microdeletion in 1738 Infertile Men From Northeastern China. Urology 2013; 82 (3): 584-8.
  • 12. Zhang F, Li L, Wang L, Yang L, Liang Z, Li J, Jin F, Tian Y. Clinical Characteristics and Treatment of Azoospermia and Severe Oligospermia Patients With Y-Chromosome Microdeletions. Mol Reprod Dev 2013; 80 (11): 908-15.
  • 13. Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK. Screening for Y-chromosome microdeletions in infertile Indian males: Utility of simplified multiplex PCR. Indian J Med Res 2008; 127 (2): 124-32.
  • 14. Chiang HS, Wu YN, Wu CC, Hwang JL. Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin. J Formos Med Assoc 2013; 112 (2): 72-8.
  • 15. Li Z, Haines CJ, Han Y. “Micro-deletions” of the human Y chromosome and their relationship with male infertility. J Genet Genomics 2008; 35 (4): 193-9.
  • 16. Babu SR, Sadhnani MD, Swarna M, Padmavathi P, Reddy PP. Evaluation of FSH, LH and testosterone levels in different subgroups of infertile males. Indian J Clin Biochem 2004; 19 (1): 45-9.

Male Patient with 46,XX Testicular Disorder: A Case Report

Year 2015, Volume: 4 Issue: 2, 23 - 26, 01.10.2015

Abstract

46,XX testicular disorder of sex development is a rare genetic syndrome. The sex determining region Y gene plays major role in encoding a testis determining factor, which is located on the Y chromosome. The results of hormonal, molecular and cytogenetic analysis with the clinical features who adult male patient admitted to the hospital due to infertility is explained in this study. It has been reached to 46,XX karyotype results and also, deletions of AZFa sY84 sY86 , AZFb sY127, sY133, sY134 , AZFc sY157, sY254, sY255 ve AZFd sY152, sY153 regions with the existence of the SRY gene were determined by results of analysis. Additionally, in analysis that perform to using Xp11.1-q11.1, Yp11.31, Yq12 regions spesific FISH probes, it was determined that the patient has two X chromosomes and SRY region. SRY gene and AZF gene regions on Y chromosome plays a major role in determining male gender and fertility. Consequently, in male patients with 46,XX karyotype, to perform molecular genetics and molecular cytogenetic analysis with cytogenetics and in the light of these analysis, genetic counseling is very important

References

  • 1. Bekir Uçan, Mustafa Özbek, Oya Topaloğlu, Ahmet Yeşilyurt, Aşkın Güngüneş, Taner Demirci, Tuncay Delibaşı. 46,XX Erkek Sendromu. Turk Jem 2013; 17: 46-8.
  • 2. Ahmet Anık, Gönül Çatlı, Ayhan Abacı, Ece Böber. 46,XX Male Disorder of Sexual Development: A Case Report. J Clin Res Pediatr Endocrinol 2013; 5 (4): 258- 60.
  • 3. Wu QY, Li N, Li WW, Li TF, Zhang C, Cui YX, Xia XY, Zhai JS. Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive. BMC Urol 2014; 14: 70.
  • 4. Li TF, Wu QY, Zhang C, Li WW, Zhou Q, Jiang WJ, Cui YX, Xia XY, Shi YC. 46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literatüre. BMC Urol 2014; 14: 104.
  • 5. Gao X, Chen G, Huang J, Bai Q, Zhao N, Shao M, Jiao L, Wei Y, Chang L, Li D, Yang L. Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports. J Assist Reprod Genet. 2013; 30 (3): 431-5.
  • 6. Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K. SRY-negative 46,XX male with normal genitals, complete masculinization and infertility. Mol Hum Reprod 2006; 12 (5): 341-6.
  • 7. Agrawala RK, Choudhury AK, Mohanty BK, Baliarsinha AK. All males do not have 46 xy karyotype: A rare case report. Indian J Endocrinol Metab 2013; 17 (Suppl 1): 271-3.
  • 8. Mizuno K, Kojima Y, Kamisawa H, Moritoki Y, Nishio H, Kohri K, Hayashi Y. Gene Expression Profile During Testicular Development in Patients With SRYnegative 46,XX Testicular Disorder of Sex Development. Urology 2013; 82 (6): 1453. e1-7.
  • 9. Gruber CJ, Hengstschläger M, Wieser F, Gruber DM, Walch K, Ferlitsch K, Gruber IM, Maar A, Marton E, Bernaschek G, Huber JC. Absence of microdeletions in the azoospermia-factor region of the Y-chromosome in Viennese men seeking assisted reproduction. Wien Klin Wochenschr 2003; 115 (23): 831-4.
  • 10. Kim MJ, Choi HW, Park SY, Song IO, Seo JT, Lee HS. Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men. J Assist Reprod Genet 2012; 29 (6): 539- 46.
  • 11. Zhang YS, Dai RL, Wang RX, Zhang HG, Chen S, Liu RZ. Analysis of Y Chromosome Microdeletion in 1738 Infertile Men From Northeastern China. Urology 2013; 82 (3): 584-8.
  • 12. Zhang F, Li L, Wang L, Yang L, Liang Z, Li J, Jin F, Tian Y. Clinical Characteristics and Treatment of Azoospermia and Severe Oligospermia Patients With Y-Chromosome Microdeletions. Mol Reprod Dev 2013; 80 (11): 908-15.
  • 13. Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK. Screening for Y-chromosome microdeletions in infertile Indian males: Utility of simplified multiplex PCR. Indian J Med Res 2008; 127 (2): 124-32.
  • 14. Chiang HS, Wu YN, Wu CC, Hwang JL. Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin. J Formos Med Assoc 2013; 112 (2): 72-8.
  • 15. Li Z, Haines CJ, Han Y. “Micro-deletions” of the human Y chromosome and their relationship with male infertility. J Genet Genomics 2008; 35 (4): 193-9.
  • 16. Babu SR, Sadhnani MD, Swarna M, Padmavathi P, Reddy PP. Evaluation of FSH, LH and testosterone levels in different subgroups of infertile males. Indian J Clin Biochem 2004; 19 (1): 45-9.
There are 16 citations in total.

Details

Primary Language Turkish
Journal Section Case Report
Authors

Elçin Latife Kurtoğlu This is me

Serap Savacı This is me

Cemal Ekici This is me

Emine Yaşar This is me

Ali Beytur This is me

Elif Yeşilada This is me

Publication Date October 1, 2015
Published in Issue Year 2015 Volume: 4 Issue: 2

Cite

APA Kurtoğlu, E. L., Savacı, S., Ekici, C., Yaşar, E., et al. (2015). 46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu. Annals of Health Sciences Research, 4(2), 23-26.
AMA Kurtoğlu EL, Savacı S, Ekici C, Yaşar E, Beytur A, Yeşilada E. 46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu. Ann Health Sci Res. October 2015;4(2):23-26.
Chicago Kurtoğlu, Elçin Latife, Serap Savacı, Cemal Ekici, Emine Yaşar, Ali Beytur, and Elif Yeşilada. “46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu”. Annals of Health Sciences Research 4, no. 2 (October 2015): 23-26.
EndNote Kurtoğlu EL, Savacı S, Ekici C, Yaşar E, Beytur A, Yeşilada E (October 1, 2015) 46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu. Annals of Health Sciences Research 4 2 23–26.
IEEE E. L. Kurtoğlu, S. Savacı, C. Ekici, E. Yaşar, A. Beytur, and E. Yeşilada, “46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu”, Ann Health Sci Res, vol. 4, no. 2, pp. 23–26, 2015.
ISNAD Kurtoğlu, Elçin Latife et al. “46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu”. Annals of Health Sciences Research 4/2 (October 2015), 23-26.
JAMA Kurtoğlu EL, Savacı S, Ekici C, Yaşar E, Beytur A, Yeşilada E. 46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu. Ann Health Sci Res. 2015;4:23–26.
MLA Kurtoğlu, Elçin Latife et al. “46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu”. Annals of Health Sciences Research, vol. 4, no. 2, 2015, pp. 23-26.
Vancouver Kurtoğlu EL, Savacı S, Ekici C, Yaşar E, Beytur A, Yeşilada E. 46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu. Ann Health Sci Res. 2015;4(2):23-6.