Predicting the testicular function in non-obstructive azoospermia via targeted gene panel

Abstract Background 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 mei...

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Autores principales:	Mai Emad, Hossam El-Din Omar, Abdel-Razik Khalifa, Emad A. Ahmed, Emad Abdel Rhim Taha
Formato:	article
Lenguaje:	EN
Publicado:	SpringerOpen 2021
Materias:	ICSI Azoospermia Gene expression Testicular Medicine (General) R5-920 Reproduction QH471-489
Acceso en línea:	https://doaj.org/article/8ad5880a882f4a27ba1fc9203a9ba043
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spelling	oai:doaj.org-article:8ad5880a882f4a27ba1fc9203a9ba0432021-11-07T12:18:11ZPredicting the testicular function in non-obstructive azoospermia via targeted gene panel10.1186/s43043-021-00087-y2090-3251https://doaj.org/article/8ad5880a882f4a27ba1fc9203a9ba0432021-11-01T00:00:00Zhttps://doi.org/10.1186/s43043-021-00087-yhttps://doaj.org/toc/2090-3251Abstract Background 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 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. Results The 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. Conclusion Gene 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.Mai EmadHossam El-Din OmarAbdel-Razik KhalifaEmad A. AhmedEmad Abdel Rhim TahaSpringerOpenarticleICSIAzoospermiaGene expressionTesticularMedicine (General)R5-920ReproductionQH471-489ENMiddle East Fertility Society Journal, Vol 26, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	ICSI Azoospermia Gene expression Testicular Medicine (General) R5-920 Reproduction QH471-489
spellingShingle	ICSI Azoospermia Gene expression Testicular Medicine (General) R5-920 Reproduction QH471-489 Mai Emad Hossam El-Din Omar Abdel-Razik Khalifa Emad A. Ahmed Emad Abdel Rhim Taha Predicting the testicular function in non-obstructive azoospermia via targeted gene panel
description	Abstract Background 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 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. Results The 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. Conclusion Gene 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.
format	article
author	Mai Emad Hossam El-Din Omar Abdel-Razik Khalifa Emad A. Ahmed Emad Abdel Rhim Taha
author_facet	Mai Emad Hossam El-Din Omar Abdel-Razik Khalifa Emad A. Ahmed Emad Abdel Rhim Taha
author_sort	Mai Emad
title	Predicting the testicular function in non-obstructive azoospermia via targeted gene panel
title_short	Predicting the testicular function in non-obstructive azoospermia via targeted gene panel
title_full	Predicting the testicular function in non-obstructive azoospermia via targeted gene panel
title_fullStr	Predicting the testicular function in non-obstructive azoospermia via targeted gene panel
title_full_unstemmed	Predicting the testicular function in non-obstructive azoospermia via targeted gene panel
title_sort	predicting the testicular function in non-obstructive azoospermia via targeted gene panel
publisher	SpringerOpen
publishDate	2021
url	https://doaj.org/article/8ad5880a882f4a27ba1fc9203a9ba043
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Predicting the testicular function in non-obstructive azoospermia via targeted gene panel

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