Analysis of Partial AZFc Deletions and DAZ Deletions in Infertile Males Without AZF Microdeletions in Guangxi

Background The impact of partial azoospermia factor c (AZFc) deletions and deleted in azoospermia (DAZ) deletions located on the long arm of the Y chromosome (Yq) on the risk of oligozoospermia and azoospermia remains a subject of debate. Objective This study aims to investigate the prevalence of partial AZFc deletions and DAZ deletions in infertile males without AZF microdeletions in Guangxi province, China, and to analyze their association with clinical phenotypes. Materials and Methods Karyotyping was performed on patients with abnormal sperm concentrations. Multiplex polymerase chain reaction (PCR) was utilized to analyze AZF microdeletions among patients with a normal karyotype and healthy controls. Partial AZFc deletions were also assessed using multiplex PCR. Additionally, PCR–restriction fragment length polymorphism (PCR–RFLP) analysis was employed to evaluate DAZ deletions in patients lacking AZF microdeletions compared to healthy controls. Results Among 934 patients with a normal karyotype, AZFc deletions were the most prevalent, occurring in 3.64% of patients, closely followed by sY1192‐independent microdeletion at 3.43%. Among 888 patients without AZF microdeletions, 10.47% carried partial AZFc deletions, with gr/gr deletions being the most prevalent (7.66%). Among patients with gr/gr deletions, 60 had gr/gr+DAZ1/DAZ2 deletions, whereas eight had gr/gr+DAZ3/DAZ4 deletions. The AZFc deletion rate in patients with nonobstructive azoospermia (NOA) was significantly higher than that in those with severe oligozoospermia, oligozoospermia, and healthy controls ( p < 0.05). Similarly, the sY1192‐independent microdeletion rate was higher in patients with NOA and severe oligozoospermia than in healthy controls ( p < 0.05). The gr/gr deletion rate was significantly higher in patients with NOA or severe oligozoospermia compared to those with oligozoospermia or healthy controls ( p < 0.05). Furthermore, the DAZ1/DAZ2 deletion rate in patients with NOA was higher than that in those with oligozoospermia or healthy controls ( p < 0.05). Conclusions Our findings indicate that the sY1192‐independent microdeletion, gr/gr deletions, and DAZ1/DAZ2 deletions are linked to disrupted spermatogenesis in infertile males.