Evaluation of Hormonal Profile and Y Chromosome Microdeletion in Azoospermic and Severely Oligozoospermic Males Presenting with Primary Infertility

Objective: To assess the frequency of Y chromosome microdeletions in males presenting with azoospermia and oligozoospermia using multiplex polymerase chain reaction and to identify the specific regions of the Y chromosome involved in these microdeletions to determine their association with reproductive hormone levels. Study Design: Cross-sectional study. Place and Duration of Study:  Departments of Molecular Diagnostics and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi Pakistan, from Jun 2021 to Jun 2022. Methodology: Samples from a total of 112 patients having primary male infertility (76 patients diagnosed with Azoospermia and 36 patients with severe oligozoospermia) were included in this study. All patients underwent testing of serum testosterone, Follicle-stimulating hormone (FSH), Luteinizing hormone (LH) and prolactin. Multiplex PCR was done for detection of Y-chromosome microdeletions. A total of eight Sequence-Tagged Site (STS) markers, including ZFX/ZFY and sex-determining region (SRY) on Yp arm, were used as the internal positive control, as per the recommendations of the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EQMN). Results: We detected 3 (2.67%) cases of Y chromosome microdeletions from individuals having azoospermia, all involved AZFc region with no significant correlation found between Y-chromosome microdeletions and levels of reproductive hormones. Conclusion: AZFc microdeletions were the most common type with better prognosis as compared to AZFa and AZFb deletions. This highlights the role of Y-chromosome microdeletions (YCMD) screening in non-obstructive azoospermic and severely oligozoospermic men. The level of testosterone was also found to be lower in individuals having microdeletions.