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 (21.03±5.59IU/L) compared with patients without microdeletion (18.27±12.04UI/L) (p=0.0073). The FSH level was higher in patients with AZFc microdeletions (21.89±7.36) vs patients with AZFa microdeletions (20.68±4.52) or AZFac. Patients with microdeletion had significant higher level of LH concentration (9.12±4.64UI/l vs17.36±0.63UI/L). Testosterone concentration was significantly lower in patient with AZF microdeletion (18.28±14.80nmol/L vs of 14.42±4.58nmol/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.

Keywords: AZF- Male Infertility, Azoospermia -Y Chromosome Microdeletion, - Assisted Reproductive Technology (ART).