Report of a Complex Chromosome Abnormality in an Infertile male with Azoospermia

Introduction: Infertility affects approximately 1 in 6 couples worldwide, and male factor infertility accounts for an estimated half of all infertility cases. Male in fertility occurs because of various factors, including those of environmental and genetic origin. The most common genetic cause of male infertility is chromosomal abnormality. The frequency of chromosomal abnormalities including both aneuploidies and structural rearrangements in infertile men is ten times higher compared with the normal population. In translocation carriers, reduced fertility is mediated by the fact that the rearranged chromosomes need to synapse through a pairing cross, in order to progress through meiosis. This pachytene cross can interfere with XY sex vesicle causing spermatogenesis arrest. Case: The Patient was a 40 -years-old man who was referred for azoospermia and primary infertility. Chromosomal analysis was carried out using T lymphocytes and standard cytogenetics techniques. 15 Chromosome spreads were studied using high resolution GTG banding technique, with light microscope.Results and discussion : Conventional cytogenetic investigation showed complex chromosomal abnormality and heterochromatin variation: 46,XY, t[der(1)inv(1)(p32q23);9;5][ p32; p22; q33.3] Karyotype. Structural chromosomal abnormalities are an important cause of male infertility.Conclusion: Chromosomal rearrangement may interrupt an important gene or alternatively may exert a position effect. These rearrangements may alter the functionality of genes at specific breakpoints such as those with a specific role in spermatogenesis. However, the pachytene cross of abnormal chromosomes could activate the XY sex vesicle, arresting spermatogenesis, hence male infertility.

کلیدواژه ها:

Chromosomal Abnormality ، Azoospermia ، Primary Infertility