Evaluation of the Genetic Analysis Results in Infertile Patients with Non-Obstructive Azoospermia

Abstract

Objective:To evaluate the genetic analysis results of patients who referred to our clinic infertility and whom semen analysis revealed non-obstructive azoospermia (NOA).Materials and Methods:Among 994 patients who underwent a microscopic testicular sperm extraction (micro-TESE) operation for NOA, 497 patients who were tested for karyotype analysis and 450 patients who were tested for chromosome Y microdeletion were included in our study. The rates of Klinefelter syndrome (KS) and Y chromosome microdeletion, sperm retrieval rates (SRR) in these genetic anomalies and the factors affecting them were investigated. Additionally, the association between the age, duration of infertility, testicular size, serum follicle stimulant hormone (FSH) and testosterone levels of patients and sperm extraction rates of micro-TESE operations were also evaluated.Results:The overall SRR of NOA patients who underwent micro-TESE was 47.5%. Among 104 patients with KS, sperm was successfully found after micro-TESE in 22 (21.2%). Fourteen patients were diagnosed with the Y chromosome microdeletion and sperm was successfully found in 4 (28.6%) of them; while the duration of infertility did not affect the SRR after micro-TESE (p=0.712); age, testicular volume serum FSH and testosterone levels had a significant effect on the SRR (p<0.005).Conclusion:In this study, the SRR of patients who have chromosome Y microdeletion or KS, was found to be lower than other studies in the literature. This difference could be derived from the genetically tested population’s structure, variance in the gene areas used for scanning and different demographic characteristics of different regions.

Keywords

• genetic analysis
• klinefelter syndrome
• micro-tese
• non-obstructive azoospermia
• y microdeletion