Estimating the Risk for Chromosomal Abnormalities and Heteromorphic Variants in Azoospermic and Severe Oligozoospermic Men

Abstract

Objectives: A reasonable number of male infertility cases are related to genetic factors. Considering the high prevalence of chromosomal abnormalities related to male infertility, this study investigated the association of the chromosomal aberrations and chromosome variants with hormonal levels, a positive family history, parental consanguinity and a specific lifestyle. We also aimed to find a predictive factor to estimate the risk of the presence of an abnormal karyotype in the azoospermic and especially sever oligozoospermic men. Materials and Methods: A total of 230 infertile men and 50 healthy controls enrolled in the study for cytogenetic evaluation. Data on patients' characteristics were gathered, accurately. Results: Among aforementioned factors, only luteinizing hormone (LH) >12 IU/l raised the chance of detecting a chromosomal abnormality (P < 0.05). The results also showed a higher level of follicle stimulating hormone (FSH) and parental consanguinity and a positive family history of infertility in infertile men compared with the control group (P < 0.05). The incidence of chromosome abnormalities and chromosomal variants were 15.2 and 10.9, respectively. The investigated variables revealed no association with the prevalence of chromosome heteromorphic variants. Conclusiond: This study suggests a positive family history of infertility, parental consanguineous marriages and high levels of FSH as strong determinants or risk factors for male infertility. Nonetheless, the presence of these patient characteristics did not prove to have a direct correlation with chromosomal abnormalities in male infertility. Among the various possible risk factors studied, an elevated gonadotropin level provides a better risk assessment for the incidence of chromosomal abnormality in infertile men.