Abstract
BackgroundMen with non-obstructive azoospermia constitute a challenging subgroup of male infertility patients in whom a genetic cause of defective spermatogenesis may be a contributing factor. The aim of this prospective observational cohort study was to determine whether assessment of meiotic nuclear division 1 (MND1) and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) gene expression (MND1/GAPDH) in testicular tissue could be a prognostic indicator for sperm retrieval and ICSI outcome in patients with non-obstructive azoospermia. The study participants underwent clinical evaluation, conventional semen analysis, serum follicular stimulating hormone (FSH), testosterone assay, scrotal ultrasound examination, microsurgical testicular sperm extraction (mTESE), and assessment of MND1/GAPDH gene expression levels in testicular tissue via quantitative polymerase chain reaction (qPCR) techniques.ResultsThe MND1/GAPDH level was associated with the likelihood of identifying sperm in testicular biopsies (odds ratio (OR) 1.25, 95% confidence intervals (CI) 1.14 to 1.34, p < 0.0001), which was confirmed by the pairwise comparison of high vs. low levels of MND1/GAPDH (OR 5.34, 95% CI 1.97 to 13.16, p = 0.0006). The level of FSH was inversely associated with a lower chance of finding sperm (OR 0.37, 95% CI 0.20 to 0.65, p = 0.001). Compared with small testicular volume, normal volume was inversely associated with the chance of sperm presence (OR 0.16, 95% CI 0.06 to 0.47, p = 0.0002). However, there was no correlation between MND1/GAPDH levels and ICSI outcome.ConclusionGene expression analysis to predict the likelihood of sperm retrieval following mTESE in patients with non-obstructive azoospermia provides a new avenue for future research, diagnosis and treatment of male factor infertility. Before its wider clinical application, however, this proof-of-concept should be tested in a large multinational, multicenter observational study.
Highlights
Male factor infertility is an ongoing dilemma that has been partially addressed by assisted reproduction
The log transformed level of gene expression was a strong predictor for finding sperm in a testicular biopsy
When transformed into a categorical variable, the pairwise comparison showed that sperm retrieval was higher in patients with high and moderate levels of gene expression compared to those with a low level of gene expression
Summary
Male factor infertility is an ongoing dilemma that has been partially addressed by assisted reproduction. Testicular tissue is composed of many cell types, providing a supportive environment for male germ cell development [4,5,6] It follows, that a testicular biopsy with a simple histological score for spermatogenesis can only provide limited prognostic information. Men with non-obstructive azoospermia constitute a challenging subgroup of male infertility patients in whom a genetic cause of defective spermatogenesis may be a contributing factor. The aim of this prospective observational cohort study was to determine whether assessment of meiotic nuclear division 1 (MND1) and glyc‐ eraldehyde-3-phosphate dehydrogenase (GAPDH) gene expression (MND1/GAPDH) in testicular tissue could be a prognostic indicator for sperm retrieval and ICSI outcome in patients with non-obstructive azoospermia. The study participants underwent clinical evaluation, conventional semen analysis, serum follicular stimulating hormone (FSH), testosterone assay, scrotal ultrasound examination, microsurgical testicular sperm extraction (mTESE), and assess‐ ment of MND1/GAPDH gene expression levels in testicular tissue via quantitative polymerase chain reaction (qPCR) techniques
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