Alper GEZDİRİCİ, Işık ÜNAL, Recep ERÖZ, Elif YILMAZ GÜLEÇ, İbrahim Orkunt AYAZ, Gülsemin ÇİÇEK

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

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.

Anahtar Kelimeler:

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

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,

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