The Spectrum of Chromosomal Abnormalities and Endocrine Profile of Male Infertility with Nonobstructive Semen Abnormality

Abstract

Background: Primary infertility is a common occurrence which affects approximately 15% of couples who desire to begin their family. Chromosomal abnormalities are well-established causes of pregnancy loss but may also have a role in explaining the cause of male infertility, especially with nonobstructive semen abnormalities. Hence, awareness regarding safety of artificial reproductive technology in these individuals due to underlying sperm aneuploidy is required. Aims: The aims of the study are to determine the prevalence of chromosomal abnormalities in primary infertile males with nonobstructive semen abnormalities and correlate with their endocrine profile. Study Design: A case–control study, in which 100 males with primary infertility and non-obstructive semen abnormalities were evaluated for chromosomal abnormality and hormonal profile; and were compared with 50 healthy males with normal semen analysis and at least one biological child. Materials and Methods: Blood T-lymphocytes were cultured using RPMI-1640 medium for obtaining metaphases and chromosomal analysis. Statistical Analysis: SPSS software and Student's t -test were used. A p < 0.05 was considered statistically significant. Results: Azoospermia (81%) was the most common nonobstructive semen abnormality. Overall prevalence of major chromosomal abnormalities and polymorphic variants was 16% and 7%, respectively. Klinefelter syndrome was the most common sex chromosomal numerical abnormality seen in 6.17% of cases with azoospermia. All healthy control males had 46, XY karyotype. Higher levels of follicle-stimulating hormone and luteinizing hormone and lower levels of testosterone along with testicular volumes were observed in infertile males with abnormal karyotype (p < 0.05). Conclusion: Primary infertile males with nonobstructive semen abnormality have high frequency of chromosomal aberrations, which justify the requirement of cytogenetic testing in these patients.

Genetic profiling of azoospermic men to identify the etiology and predict reproductive potential

“…Genetic testing has become increasingly prevalent in male infertility screening and includes testing for whole-chromosomal structural aberrations, partial chromosomal defects, and monogenic diseases [ 10 ]. In men with azoospermia, genetic screening has revealed a higher incidence of constitutional karyotypic abnormalities [ 11 ]. Detection of Y-microdeletions can also identify genetic relationships of impaired spermatogenesis, which would not only remarkably limit reproductive competence, but would also be passed on to male offspring once assisted reproductive technologies (ART) are used [ 12 ].…”