Ahmet SALVACI, Ali Sami GURBUZ, İsmet Bilger ERİHAN, Mehmet Ali KARAGÖZ, Mehmet USLU, Murat BAĞCIOĞLU, Mehmet BALASAR, Recai GÜRBÜZ

Obstrüktif ve Non-obstrüktif Azospermik Türk Erkeklerin Genetik Sonuçlarının Değerlendirilmesi: Multisentrik Retrospektif Çalışma

Amaç: Obstüriktif, nonobstüriktif (NOA/OA) azospermik Türk erkeklerin genetik sonuçları değerlendirilecektir. Gereç ve Yöntem: 2008-2018 arasında hastaların; anemnezleri, muayeneleri, hormonal değerleri, semen analizleri, kan karyotip analizleri, Y kromozom mikro delesyonları, kistik fibrozis transmembran regülatör gen mutasyonları (CFTR), skrotal renkli doplerleri, mikro testiküler sperm ekstraksiyon ve patolojik sonuçları incelenildi. Bulgular: Semen volüm ortalamaları 2.2±1.5/ml, pellet (-), azospermiktiler. Skrotal renkli dopler ve muayende grd I-III reflü (-) varikoseller, atrofik testisler ve fenotipik stigmalar gözlenildi. FSH 24.6±14.4 mIU/L, total testosteron 9.83±7.35 ng/ml, prolaktin 10.37±3,45 ng/mL aralığında ölçüldü. NOA/OA da genetik tanı oranı %34.4 hesaplandı. Kromozomal yapısal ve sayısal bozukluk sırasıyla %4.08 ve %19.92 iken, hem yapısal hem sayısal bozukluk oranı %1.12 idi. Karyotipler %65.5 oranında 46, XY iken, ikinci sıklıkta 47, XXY %17.9 idi. Ayrıca 46, XX/SRY (+) %1.4, 45,XO/SRY (+) %1.4 erkekler ve 47,XYY %0.3 oranında karyotipler gözlenildi. Yapısal kromozom bozukluk 9qh (+) inversiyon %2.5 idi. Y kromozom mikro delesyon oranı %7 bulunuldu. Vas deferens yokluğu %4.48 gözlenildi. CFTR heterozigot mutasyon taşıyıcılığı tüm seri içinde %0.84 oranında idi. Sonuç: NOA/OA Türk erkeklerin etyolojik faktörleri içinde genetik tanılar büyük oranda ve farklı çeşitlilikte gözlenirken, kromozomal sayısal, yapısal ve yapısal+sayısal bozuklukların etyolojide geniş yer edindiği gözlenildi.

Evaluation of Genetic Outcomes of Obstructive and Non-obstructive Azoospermic Turkish Men: A Multicentric Retrospective Study

Objective: To evaluate the genetic outcomes of obstructive/non-obstructive azoospermic Turkish men. Material and Method: Patients underwent anamnesis, examination, hormonal values, semen analysis, blood karyotype analysis, Y chromosome microdeletions, cystic fibrosis transmembrane conductance regulator gene mutation, scrotal color doppler, micro testicular sperm extraction. Results: The semens were 2.2±1.5/ml, pellet (-) and azoospermic. Grade I-III reflux (-), varicoceles, atrophic testicles and phenotypic stigmas were observed. FSH, total testosterone, prolactine were measured as 24.6±14.4 mIU/L, 9.83±7.35 ng/ml and 10.37±3,45 ng/mL, respectively. The genetic diagnostic rate was 34.4%. Chromosomal structural and numerical abnormalities were 4.08 % and 19.92 %, respectively, while the structural and numerical abnormality rate was 1.12%. Karyotype 46, XY was detected at a rate of 65.5 % followed by 47, XXY as the second most frequent karyotype at 17.9 %. Moreover, karyotype 46, XX/SRY (+) was detected at a rate of 1.4%, karyotype 45, XO/SRY (+) was identified at a rate of 1.4% in males and karyotype 47, XYY was detected at a rate of 0.3 %. Structural chromosomal abnormality 9qh (+) with inversion appeared at a rate of 2.5%. Chromosomal Y chromosome microdeletion was detected as 7%. Absence of vas deference was observed as 4.48%. Heterozygous mutation carriage of CFTR was detected at a rate of 0.84% within the whole series. Conclusion: While genetic diagnoses prevailed at high rate and with a different range of diversity among etiological factors in NOA/OA Turkish men, it was also noted that chromosomal numerical abnormalities and structural as well as structural/numerical abnormalities gained a major ground in etiology.

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