Analysis of AZF microdeletion, chromosome karyotypes, and sex hormone levels in 3060 male infertility: A retrospective study in Ningxia of China

In recent years, male infertility has shown a significant upward trend globally. Y chromosome microdeletions (YCMs), known as microdeletions within azoospermia factor (AZF), and chromosomal abnormalities are the leading genetic causes of male infertility. This study summarizes the detection of YCMs, karyotype results, and sex hormone levels in male infertility patients, with the aim of providing theoretical support for clinical diagnosis and treatment. A retrospective analysis was conducted on 3060 male infertility patients treated at the General Hospital of Ningxia Medical University between January 2016 and December 2024. Patients were classified according to semen parameters into azoospermia and oligozoospermia groups, and subgroup analyses were performed to compare the prevalence of YCMs and karyotypic abnormalities, as well as to assess hormonal differences between groups. The overall detection rate of YCMs in patients with infertility was 8.24%. AZFc deletions were most common (64.68%), followed by AZFb + c deletions (19.05%). YCMs were significantly more prevalent in azoospermia (12.70%) than in oligozoospermia (5.99%) (P < .001). AZFb + c deletions predominated in azoospermia (36.92%), whereas AZFc deletions were nearly exclusive in oligozoospermia (98.36%). The overall chromosomal karyotype abnormality rate was 8.01%, which was significantly higher in the azoospermia (15.72%) group than in the oligozoospermia (4.13%) group (P < .001). Patients with YCMs exhibited a significantly higher rate of abnormal karyotypes (40.48%) than those without YCMs (5.09%) (P < .001). Azoospermia patients had significantly higher luteinizing hormone and follicle-stimulating hormone levels and lower testosterone levels than oligozoospermia patients (all P < .001). Patients with YCMs had significantly higher luteinizing hormone and follicle-stimulating hormone levels than those without YCMs (P < .001 and P < .05) and the hormonal alterations associated with YCMs were independent of age. Genetic screening is conducive to identifying potential genetic disorders that may be associated with infertility, providing auxiliary support for the formulation of personalized treatment plans and the selection of appropriate assisted reproductive technologies.