Kromozom Analizinin Erkek ve Kadın İnfertilitesindeki Yeri

Yıl 2021, Cilt: 23 Sayı: 3, 468 - 475, 31.12.2021

Burhan Balta , Murat Erdoğan , Aslıhan Kiraz , Gökhan Sönmez

https://doi.org/10.24938/kutfd.915883

Cited By: 1

Öz

Amaç: İnfertilite, bir yıllık düzenli korunmasız ilişkiye rağmen gebelik ve sağlıklı bebek oluşmamasına denir. Birincil infertilite, gebeliğin hiç elde edilememesine denilirken, ikincil infertilite ise daha önce sağlıklı en az bir çocuk sahibi olmuş çiftlerin gebe kalamaması olarak adlandırılır. Kromozom anomalileri hem erkek hem de kadın infertilitesinin önemli bir nedenidir. Biz bu çalışmada birincil infertilitesi olan çiftlerin kromozom analizi sonuçlarını tartışmayı amaçladık.

Gereç ve Yöntemler: Birincil infertilitesi olan 262 kadın ve 273 erkek toplam 535 kişi çalışmaya dahil edildi. Kromozom analizi periferal kan lenfositleri kullanılarak standart sitogenetik GTG bantlama tekniği kullanılarak yapıldı.

Bulgular: İki yüz elli dört kişide 46,XX, 259 kişide 46,XY olmak üzere toplam 513 kişide normal kromozom kuruluşu tespit edildi (%95,8). Sekiz hastada normal kromozom varyantı tespit edildi (%1,4). Bunun yanında 4 hastada dengeli resiprokal translokasyon, 1 hastada ise Robertsoniyan translokasyon olmak üzere 5 hastada translokasyon tespit edildi (%0.8). Üç hastada Klinefelter sendromu tespit edildi (erkek infertilitesinin %1’i). Ayrıca 2 hastada Turner sendromu varyant olan mos 45,X[11]/46,XX,i(X)(q10)[29] ve mos 45, X[10]/46,X,i(X)(q10)[10] (kadın infertilitesinin %0.7’si) saptandı. Normal kromozom varyantlarını dışlandığında geri kalan değişimlerin hasta popülasyonunda sıklığı %2.6 olarak bulundu.

Sonuç: Dengeli resiprokal ve Robertsoniyan translokasyonlar gibi yapısal kromozom anomalileri hem kadın hem de erkek infertilitesine neden olurlar. 47,XXY erkek infertilitesinde, 45,X/46,X,i(X)(q10) Turner kromozom varyantları kadın infertilitesinde akılda tutulmalıdır. Özetle kromozom analizi hem kadın hem de erkek infertilite etiyolojisini açıklamak adına yapılması gereken önemli testlerden biridir.

Anahtar Kelimeler

İnfertilite, translokasyon, kromozom analizi, resiprokal, klinifelter sendromu.

THE ROLE OF CHROMOSOME ANALYSIS IN MALE AND FEMALE INFERTILITY

Öz

Objective: Infertility is defined as absence of a healthy baby or pregnancy despite a one-year regular unprotected sexual intercourse. While primary infertility is called the absence of pregnancy at all, secondary infertility is called inability of couples who have had at least one healthy child to become pregnant. Chromosome anomalies are an important cause of both male and female infertility. In this study, we aimed to discuss the results of chromosome analysis of couples with primary infertility.

Material and Methods: A total of 535 people, 262 women and 273 spouses with primary infertility, were included in the study. Chromosome analysis was performed using standard cytogenetic GTG banding technique using peripheral blood lymphocytes.

Results: Normal chromosome establishment was detected in 513 people, 46,XX in 254 people, 46,XY in 259 people (95.8%). Eight patients had a normal chromosome variant (1.4%). In addition, translocation was detected in 5 patients (0.8%); in 4 patients, balanced reciprocal translocation and in 1 patient, Robertsonian translocation. Klinefelter syndrome was detected in 3 patients (1% of male infertility). In addition, we detected Turner syndrome variants, mos 45,X[11]/46,XX,i (X)(q10)[29] and mos 45,X[10]/46,X,i(X)(q10)[10] (0.7% of female infertility) in two cases. If normal chromosome variants are excluded, the frequency of the remaining changes in the patient population is 2.6%.

Conclusion: Structural chromosomal anomalies such as balanced reciprocal and Robertsonian translocations cause both female and male infertility. 47,XXY should be kept in mind for male infertility and 45,X/46,X,i(X)(q10) Turner chromosome variants should be kept in mind in female infertility. In summary, chromosome analysis is one of the important tests that should be done to explain the etiology of both male and female infertility.

Anahtar Kelimeler

Infertility, translocation, chromosome analysis, reciprocal, Klinifelter syndrome.

Kaynakça

• 1. Tabong PTN, Adongo PB. Infertility and childlessness: A qualitative study of the experiences of infertile couples in Northern Ghana. BMC Pregnancy and Childbirth. 2013;13:1-10.
• 2. Matzuk MM, Lamb DJ. Genetic dissection of mammalian fertility pathways. Nat Cell Biol. 2002;4(1):41-9.
• 3. Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C. Male infertility: Role of genetic background. Reprod Biomed Online. 2007;14(6):734-45.
• 4. Vogt PH. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: History and update. Mol Hum Reprod. 1998;4(8):739-44.
• 5. Punab M, Poolamets O, Paju P, Vihljajev V, Pomm K, Ladva R et al. Causes of male infertility: A 9-year prospective monocentre study on 1737 patients with reduced total sperm counts. Hum Reprod. 2017;32(1):18-31.
• 6. Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018;15(6):369-84.
• 7. Stouffs K, Seneca S, Lissens W. Genetic causes of male infertility. Ann Endocrinol (Paris). 2014;75(2):109-11.
• 8. Rafique M, AlObaid S, Al-Jaroudi D. 47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries. Clin Case Rep. 2019;7(6):1238-41.
• 9. Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet. 2000;97(3):189-94.
• 10. Gravholt CH. Clinical practice in Turner syndrome. Nat Clin Pract Endocrinol Metab. 2005;1(1):41-52.
• 11. Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, Brac De La Perrière A et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod. 2016;31(4):782-8.
• 12. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999;89(4):186-200.
• 13. Harton GL, Tempest HG. Chromosomal disorders and male infertility. Asian J Androl. 2012;14(1):32-9.
• 14. Hann MC, Lau PE, Tempest HG. Meiotic recombination and male infertility: from basic science to clinical reality? Asian J Androl. 2011;13(2):212-8.
• 15. Liu Y, Kong XD, Wu QH, Li G, Song L, Sun YP. Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples. J Assist Reprod Genet. 2013;30(4):547-53.
• 16. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag PE. Klinefelter’s syndrome. Lancet. 2004;364(9430):273-83.
• 17. Ranjith R, A RJ, D PG, Veeck GL, Zev R, N SP. Successful Fertility Treatment for Klinefelter’s Syndrome. J Urol. 2009;182(3):1551-3.
• 18. 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.
• 19. Yalçıntepe S, Eker D, Gürkan H. Trakya bölgesi erkek infertilite olgularında y kromozom mikrodelesyonları ve sitogenetik anomalilerin sıklığı: Tek merkez deneyimi. İstanbul Tıp Fakültesi Dergisi. 2021;84(1):27-33.
• 20. Karaer D, Şahinoğlu B, Gürler A, Karaer K. İnfertil erkek hastalarda karyotip analizi ve Y kromozom mikrodelesyon analiz sonuçları. Pamukkale Medical Journal. 2021;14(3):620-5.
• 21. O’Flynn O’Brien KL, Varghese AC, Agarwal A. The genetic causes of male factor infertility: A review. Fertil Steril. 2010;93(1):1-12.
• 22. Morel F, Douet-Guilbert N, le Bris MJ, Herry A, Amice V, Amice J et al. Meiotic segregation of translocations during male gametogenesis. Int J Androl. 2004;27(4):200-12.
• 23. Gümüş E. Evaluation of chromosomal anomalies and polymorphisms in primer infertility, Azospermia and Habitual Abortion Patient Groups. Van Med J. 2019;26(1):12-7.
• 24. Ishikawa T, Kondo Y, Yamaguchi K, Oba T, Sakamoto Y, Takenaka A et al. An unusual reciprocal X-autosome translocation in an infertile azoospermic man. Fertil Steril. 2007;88(3):15-7.
• 25. Dundar M, Balta B, Bahadir O, Acar H, Baydilli N, Baltaci V et al. An uncommon cause of infertility: Y;1 translocation and PGD trial. Genet Couns. 2014;25(3):353-5.
• 26. Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC. Familial premature ovarian failure due to an interstitial deletion of the long arm of the x chromosome. N Engl J Med. 1987;317(3):125-31.
• 27. Ko DS, Cho JW, Lee HS, Kim JY, Kang IS, Yang KM et al. Preimplantation genetic diagnosis outcomes and meiotic segregation analysis of robertsonian translocation carriers. Fertil Steril. 2013;99(5):1369-76.
• 28. Nielsen J, Friedrich U, Hreidarsson ÁB. Frequency and genetic effect of 1 qh+. Humangenetic. 1974;21(2):193-6.
• 29. Gardner RJM, Sutherland GR, Shaffer LG. Chromosome Abnormalities and Genetic Counseling. Oxford, UK. Oxford University Press, 2012.
• 30. Dana M, Stoian V. Association of pericentric inversion of chromosome 9 and infertility in romanian population. Maedica (Bucur). 2012;7(1):28-9.
• 31. Riccaboni A, Lalatta F, Caliari I, Bonetti S, Somigliana E, Ragni G. Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests. Fertil Steril. 2008;89(4):800-8.
• 32. Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. J Clin Endocrinol Metab. 1997;82(6):1810-3.
• 33. Reindollar RH. Turner syndrome: contemporary thoughts and reproductive issues. Semin Reprod Med. 2011;29(4):342-52.
• 34. Oktay K, Bedoschi G, Berkowitz K, Bronson R, Kashani B, McGovern P et al. Fertility preservation in women with Turner Syndrome: A comprehensive review and practical guidelines. J Pediatr Adolesc Gynecol. 2016;29(5):409-16.
• 35. Liang D, Wang Y, Ji X, Hu H, Zhang J, Meng L et al. Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations. Clin Genet. 2017;91(4):605-10.
• 36. Dong Z, Yan J, Xu F, Yuan J, Jiang H, Wang H et al. Genome sequencing explores complexity of chromosomal abnormalities in recurrent miscarriage. Am J Hum Genet. 2019;105(6):1102-11.