Genetic and sex hormone analysis of infertile men

OBJECTIVE: Genetic defects and endocrine-related factors are the leading causes of male infertility. This study was performed to analyze the genetic characteristics and sex hormone levels in different types of male infertility. METHODS: A total of 423 men with infertility underwent genetic and sex hormone analysis at The Sixth Affiliated Hospital of Guangzhou Medical University. RESULTS: The incidences of abnormal karyotypes in patients with male infertility, azoospermia, and oligoasthenozoospermia were 6.94%, 22.40%, 15.09%, respectively. Among men with azoospermia, Klinefelter syndrome (47,XXY) was identified in 60.71% (17/28) of those with abnormal karyotypes. Additionally, the levels of follicle-stimulating hormone and human luteinizing hormone were significantly higher in men with azoospermia showing abnormal karyotypes than in men of the other study groups. The serum testosterone level in men with azoospermia showing abnormal karyotypes was lower than that in men of the other study groups. CONCLUSIONS: Azoospermia is closely associated with chromosome abnormalities. The levels of testosterone, human luteinizing hormone, and follicle-stimulating hormone in men with azoospermia showing abnormal karyotypes provide a clinical reference for genetic counseling and assisted reproduction.