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.
Authors
- Abdoulaye Seck
- Gora Diop (ORCID: https://orcid.org/0000-0001-5626-6287)
- Abdoulaye Diop (ORCID: https://orcid.org/0000-0001-7905-7138)
- B Ndiaye (ORCID: https://orcid.org/0000-0002-5897-8293)
- Makhtar Niang (ORCID: https://orcid.org/0000-0003-0810-4595)
- Chantal Mahou
- Inès Vigan-Womas (ORCID: https://orcid.org/0000-0001-7848-9297)
- Cheikh Loucoubar (ORCID: https://orcid.org/0000-0002-9582-4197)
- Bernard Faye (ORCID: https://orcid.org/0000-0002-5762-5453)
- Ndeye Marième Top (ORCID: https://orcid.org/0000-0002-8626-4140)
- Racha Kamenda Ibondou
- Tidiane Diallo
- Alexandre Ba
- Moussa Sy (ORCID: https://orcid.org/0000-0002-1690-3808)
- Simon Pierre SAGNA
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
- Field-Weighted Citation Impact
- 0.00