Y chromosome microdeletions represent the second most common genetic cause of male infertility. Despite their significance in guiding infertility treatment, no studies have previously investigated this in Peru. This study aimed to assess the prevalence and patterns of Y chromosome microdeletions among men seeking infertility evaluation at a specialized reproductive medicine center in Peru. In this study, 201 men enrolled in Niu Vida's fertility program provided semen samples for analysis. Seminal parameters were assessed according to the 2010 World Health Organization (WHO) Laboratory Manual guidelines. For molecular testing, both a buccal swab and a 500 μL portion of each semen sample were collected to investigate Y chromosome microdeletions. The study focused on identifying the presence and distribution of deletions in the AZFa, AZFb, and AZFc regions. Y chromosome microdeletions within the AZF regions were detected in 6.45% of patients with oligozoospermia or azoospermia, with a higher prevalence of 20% observed specifically among azoospermic individuals. No AZFb deletions were identified in the cohort. Additionally, a partial AZFa microdeletion was found in a teratozoospermic patient who exhibited a normal sperm concentration. This study provides the first evidence of Y chromosome microdeletions in the Peruvian male population. The data show a notably higher frequency of microdeletions among azoospermic men compared to previously reported cohorts. These findings highlight the importance of further screening for AZFa deletions and examining additional genetic markers in this region to pinpoint mutations that may underlie defective sperm production and male infertility in Peru.
