Erkek İnfertilitesi ile Başvuran Hastalarda Spermiogram, Hormonal Profil ve Genetik Analiz Sonuçlarının Karşılaştırmalı Analizi: Tek Merkez Deneyimi

Year 2022, , 15 - 21, 14.01.2022

Alper Gezdirici Işık Ünal Recep Eröz Elif Yılmaz Güleç İbrahim Orkunt Ayaz Gülsemin Çiçek

https://doi.org/10.33631/sabd.1054912

Cited By: 1

Abstract

Amaç: Bu çalışmanın amacı, hastanemize infertilite nedeniyle başvuran erkeklere yardımcı üreme tekniklerinden önce uygun genetik danışmanlık verebilmek için, azospermi ve/veya oligozoospermi etiyolojisine yönelik standart sitogenetik yöntemler ve Y kromozom mikrodelesyon analizleri ile hem majör kromozom anomalilerinin hem de Y kromozomu mikrodelesyonlarının sıklığı ve tiplerini araştırmaktır.
Gereç ve Yöntemler: Çalışmamıza 2017-2020 yılları arasında erkek infertilitesi nedeniyle Kanuni Sultan Süleyman Eğitim ve Araştırma hastanemize başvuran toplam 437 hasta dâhil edildi. Tüm hastalar spermiogram, hormonal profil, kromozom analizi ve Y mikrodelesyon analizleri doğrultusunda değerlendirildi.
Bulgular: Çalışmamızda toplam 437 hastanın 42’sinde (%9,6) kromozomal anomaliler tespit edildi. En sık görülen kromozomal anomali 47,XXY(Klinefelter sendromu) idi. 5 hastamızda dengeli translokayonlar vardı. 1 hastada ise marker kromozom tespit edildi. Geriye kalan 395 hastanın kromozom analizi normaldi. 44 hastamızda (%10,06) ise AZF genleri üzerinde çeşitli y-kromozomu mikrodelesyonları saptandı. 1 hastada AZFa delesyonu, 4 hastada AZFb+c delesyonu, 17 hastada AZF-c gr/gr delesyonu, 2 hastada komplet AZFa+b+c delesyonu, 2 hastada komplet AZFc delesyonu, 1 hastada parsiyel AZFb delesyonu, 9 hastada kısmi AZFb+c delesyonu, 8 hastada parsiyel AZFc delesyonu tespit edildi. Geriye kalan 393 hastada herhangi bir Y kromozomu mikrodelesyonu saptanmadı.
Sonuç: Mevcut bilgiler ve geçmişteki literatür çalışmaları eşliğinde özellikle şiddetli oligospermi ve azospermili hastalarda kromozom analizi ve Y mikro delesyonu analizlerini yardımcı üreme tekniklerinden önce önermekteyiz.

Keywords

Erkek infertilitesi, azospermi, kromozom anomalileri, Y kromozomu mikrpdelesyonu

Comparative Analysis of Spermiogram, Hormonal Profile and Genetic Analysis Results in Patients Applying with Male Infertility: A Single Center Experience

Abstract

Aim: The aim of this study is to investigate types of both major chromosomal abnormalities and Y-chromosome microdeletions by examining with standard cytogenetic methods and Y-chromosome microdeletion analyzes for azoospermia and / or oligozoospermia etiology to provide appropriate genetic counseling to men admitted to our hospital due to infertility before assisted reproductive techniques.
Material and Methods: A total of 437 patients who admitted to our Kanuni Sultan Süleyman Training and Research Hospital due to male infertility between 2017 and 2020 were included in our study. All patients were evaluated according to spermiogram, hormonal profile, chromosome analysis and Y microdeletion analysis.
Results: In our study, chromosomal anomalies were detected in 42 of 437 patients (9.6%). The most common chromosomal anomaly was 47, XXY (Klinefelter syndrome). 5 of our patients had stable translocation. Marker chromosome was detected in 1 patient. Chromosome analysis of the remaining 395 patients was normal. Various y-chromosome microdeletions on AZF genes were detected in 44 patients (10.06%). AZFa in 1 patient, AZFb + c in 4 patients, AZFc gr / gr in 17 patients, complete AZFa + b + c in 2 patients, complete AZFc in 2 patients, partial AZFb in 1 patient, partial AZFb + c in 9 patients, and partial AZFc were detected in 8 patients. No Y chromosome microdeletions were detected in the remaining 393 patients.
Conclusion: In the light of current information and past literature studies, we recommend chromosome analysis and y-micro deletion analysis, especially in patients with severe oligospermia and azoospermia, before assisted reproductive techniques.

Keywords

Male infertility, azoospermia, chromosomal abnormalities, Y chromosome microdeletion

References

• Leslie SW, Siref LE, Soon-Sutton TL, Khan MAB. Male Infertility. StatPearls. Treasure Island (FL) 2021.
• Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015; 13: 37.
• Colaco S, Modi D. Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol. 2018; 16(1): 14.
• Fu L, Xiong DK, Ding XP, Li C, Zhang LY, Ding M, et al. Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men. J Assist Reprod Genet. 2012; 29(6): 521-7.
• Cervan-Martin M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic. J Clin Med. 2020; 9(2): 300.
• Sanchez-Alvarez J, Cano-Corres R, Fuentes-Arderiu X. A Complement for the WHO Laboratory Manual for the Examination and Processing of Human Semen (First Edition, 2010). EJIFCC. 2012; 23(3): 103-6.
• Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018; 15(6): 369-84.
• Akin H, Onay H, Turker E, Ozkinay F. Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients. J Assist Reprod Genet. 2011; 28(5): 419-23.
• Ozdemir TR, Ozyilmaz B, Cakmak O, Kaya OO, Kose C, Kirbiyik O, et al. Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study. Turk J Urol. 2020; 46(2): 95-100.
• Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet. 2008; 25(11-12): 559-65.
• Zhang H, Wang R, Li L, Jiang Y, Zhang H, Liu R. Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature. Medicine (Baltimore). 2018; 97(15): e0452.
• Practice Committee of the American Society for Reproductive M. Diagnostic evaluation of the infertile male: a committee opinion. Fertil Steril. 2015; 103(3): e18-25.
• Krausz C, Hoefsloot L, Simoni M, Tuttelmann F, European Academy of A, European Molecular Genetics Quality N. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology. 2014; 2(1): 5-19.
• Kohn TP, Kohn JR, Owen RC, Coward RM. The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review and Meta-analysis of European and North American Studies. Eur Urol. 2019; 76(5): 626-36.
• Simoni M, Tuttelmann F, Gromoll J, Nieschlag E. Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience. Reprod Biomed Online. 2008; 16(2): 289-303.
• Krausz C, Casamonti E. Spermatogenic failure and the Y chromosome. Hum Genet. 2017; 136(5): 637-55.
• Park SH, Lee HS, Choe JH, Lee JS, Seo JT. Success rate of microsurgical multiple testicular sperm extraction and sperm presence in the ejaculate in korean men with y chromosome microdeletions. Korean J Urol. 2013; 54(8): 536-40.
• Silber SJ. The Y chromosome in the era of intracytoplasmic sperm injection: a personal review. Fertil Steril. 2011; 95(8): 2439-48 e1-5.
• Arshad MA, Majzoub A, Esteves SC. Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature. Int Urol Nephrol. 2020; 52(11): 2015-38.
• Cariati F, D'Argenio V, Tomaiuolo R. The evolving role of genetic tests in reproductive medicine. J Transl Med. 2019; 17(1): 267.