Analysis of Y Chromosome Microdeletions and Mutation in Exon7 of the STAG3 Gene in Iranian Infertile Men with Idiopathic Non-Obstructive Azoospermia

Abstract Background: Azoospermia is defined as the absence of sperm in the semen and is divided in two types; obstructive and non-obstructive azoospermia. Non-obstructive azoospermia include approximately 60% of azoospermia patients. Several genetic and environmental factors can be involved in the development of non-obstructive azoospermia. Until now, several genes have been introduced as the causing factor of the azoospermia that are involved in spermatogenesis and testicular development. These genes are located on Y and/or autosome chromosomes .The aim of the present study was to investigate Y chromosome microdeletions and STAG3 gene mutations in Iranian males with non-obstructive azoospermia. Materials and Methods: In this study, peripheral blood samples were obtained from 122 men with idiopathic non-obstructive azoospermia and 100 Normo-sperm men who had at least one child and DNA was extracted. Samples were investigated for the presence of Y chromosome microdeletions by Multiplex PCR. Then, existence of probable mutations in exon 7 of STAG3 gene was investigated using MSSCP (multi-temperature single-strand conformational polymorphism) method. Results: 13 patients (10.66%) had Y chromosome microdeletions, but none of the subjects showed mutation in exon 7 of STAG3 gene. The Y chromosome microdeletions were found in none of the control individuals. Conclusion: The results showed that Y chromosome microdeletions are the most important cause of non-obstructive azoospermia and should be considered as the main candidate for male infertility diagnostic tests. Mutations in the STAG3 gene are not common among non-obstructive azoospermia patients

Accurate Cut-off Point for Free to Total Prostate- Specific Antigen Ratio Used to Improve Differentiation of Prostate Cancer from Benign Prostate Hyperplasia in Iranian Population

Purpose: Our aim was to determine a more predictive cut-off value for free to total prostate-specific antigen ratio (f/tPSA) to better differentiate prostate cancer (PCa) from benign prostate hyperplasia (BPH) in Iranian patients with serum PSA levels between 4 and 20 ng/mL.Materials and Methods: This study was performed on 332 men with serum tPSA level of 4 to 20 ng/mL. All patients underwent transrectal ultrasound guided biopsies. Serum levels of tPSA and fPSA were measured by Roche immunoassay Elecsys 2010. Relationship between f/tPSA and cases of PCawas determined.Results: Prostate cancer detected in 49 (15%) patients. Incidence of PCa for serum tPSA level < 10ng/mL and serum tPSA level of 10.1 to 20 ng/ mL was 17 (6.7%) and 32 (39.5%), respectively. Mean f/tPSA value was significantly lower in PCa patients (0.12 ± 0.01) than in benign histology group (0.16 ± 0.03). Among patients with serum PSA level of 4 to 10 ng/mL (n = 251), mean f/tPSA in benign histology group (n = 234) was 0.16 ± 0.08 and in PCa group (n = 17) was 0.13 ± 0.06 (P < .05). For serum PSA level of 10.1 to 20 ng/mL (n = 81), mean f/tPSA in benign histology group (n = 49) was 0.16 ± 0.08 and in PCa group (n = 32) was 0.12 ± 0.05 (P < .05). The cut-off value of 0.12 produced 76% sensitivity and 71 % specificity, whereas the cut-off value of 0.14 yielded 83.5 % sensitivity and 61% specificity.Conclusion: Determination of f/tPSA ratio improves differentiation of Pca from BPH. We recommend a cut-off value of 0.14 to be applied to Iranian patients