Molecular and Hormonal Profile of AZF Microdeletions in Senegalese Infertile Men Presenting Non-Obstructive Azoospermia

introduction: Azoospermia characterized by the total absence of sperm in the ejaculate affects 5 to 15% of infertile men.Genetic abnormalities such as Y chromosome microdeletion are reported with 15 to 20% prevalence within men with non-obstructive azoospermia (NOA).Three regions located on the long arm of the Y chromosome named AZFa, AZFb and AZFc have been the most incriminated.Objective: The objective of this study was to determine the prevalence of AZF microdeletions within patients with NOA and analyze their hormonal profile; Material and Methods: Multiplex polymerase chain reaction for AZF microdeletion was performed with hormonal analysis (LH, FSH and Testosterone) using ELISA.6 STSs markers of chromosome Y microdeletion were used.Comparisons between outcome groups were performed using Student's t-test.Our results revealed a prevalence of 41.2% of cases of microdeletions on the Y chromosome (14/34) with: 7/14 AZFa deletion, 6/14 AZFc deletion and 1/14 AZF ac deletion.The FSH level was significantly higher in patients with Y microdeletion (21.035.59IU/L)compared with patients without microdeletion (18.2712.04UI/L)(p=0.0073).The FSH level was higher in patients with AZFc microdeletions (21.897.36)vs patients with AZFa microdeletions (20.684.52)or AZFac.Patients with microdeletion had significant higher level of LH concentration (9.124.64UI/lvs17.360.63UI/L).Testosterone concentration was significantly lower in patient with AZF microdeletion (18.2814.80nmol/Lvs of 14.424.58nmol/L).conclusion: Regarding the high prevalence of AZF microdeletion assessed in our preliminary study, (41,2%), research of AZF microdeletion appears as a relevant test for the management of NOA in our context and should be proposed in routine.

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Publication Details

Journal
Journal of genetics and genetic engineering.
Published
2025-01-01
DOI
https://doi.org/10.22259/2637-5370.0701002
Primary Topic
Sperm and Testicular Function
Type
article
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article

Molecular and Hormonal Profile of AZF Microdeletions in Senegalese Infertile Men Presenting Non-Obstructive Azoospermia

Abdoulaye Seck, Gora Diop, Abdoulaye Diop, B Ndiaye et al.
Journal of genetics and genetic engineering.
Sperm and Testicular Function
article

Molecular and Hormonal Profile of AZF Microdeletions in Senegalese Infertile Men Presenting Non-Obstructive Azoospermia

Abdoulaye Seck, Gora Diop, Abdoulaye Diop, B Ndiaye, Makhtar Niang, Chantal Mahou, Inès Vigan-Womas, Cheikh Loucoubar, Bernard Faye, Ndeye Marième Top, Racha Kamenda Ibondou, Tidiane Diallo, Alexandre Ba, Moussa Sy, Simon Pierre SAGNA
article en

Abstract

introduction: Azoospermia characterized by the total absence of sperm in the ejaculate affects 5 to 15% of infertile men.Genetic abnormalities such as Y chromosome microdeletion are reported with 15 to 20% prevalence within men with non-obstructive azoospermia (NOA).Three regions located on the long arm of the Y chromosome named AZFa, AZFb and AZFc have been the most incriminated.Objective: The objective of this study was to determine the prevalence of AZF microdeletions within patients with NOA and analyze their hormonal profile; Material and Methods: Multiplex polymerase chain reaction for AZF microdeletion was performed with hormonal analysis (LH, FSH and Testosterone) using ELISA.6 STSs markers of chromosome Y microdeletion were used.Comparisons between outcome groups were performed using Student's t-test.Our results revealed a prevalence of 41.2% of cases of microdeletions on the Y chromosome (14/34) with: 7/14 AZFa deletion, 6/14 AZFc deletion and 1/14 AZF ac deletion.The FSH level was significantly higher in patients with Y microdeletion (21.035.59IU/L)compared with patients without microdeletion (18.2712.04UI/L)(p=0.0073).The FSH level was higher in patients with AZFc microdeletions (21.897.36)vs patients with AZFa microdeletions (20.684.52)or AZFac.Patients with microdeletion had significant higher level of LH concentration (9.124.64UI/lvs17.360.63UI/L).Testosterone concentration was significantly lower in patient with AZF microdeletion (18.2814.80nmol/Lvs of 14.424.58nmol/L).conclusion: Regarding the high prevalence of AZF microdeletion assessed in our preliminary study, (41,2%), research of AZF microdeletion appears as a relevant test for the management of NOA in our context and should be proposed in routine.

Journal of genetics and genetic engineering.Vol. 7(1)
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Sperm and Testicular Function
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