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.