Genetics of Male Infertility

Background: Our objective is to detect the frequency and typesof major genetic abnormalities of idiopathic non-obstructiveazoospermia (NOA) to give appropriate genetic counseling beforeassisted reproductive techniques (ART) in Middle East andto compare the frequencies with other regions of the world.Material and Methods: A total of ۸۸۰ Middle Eastern patientswith NOA were recruited in this multicenter study for geneticevaluation prior to use of ART. Karyotyping was performed on peripheral blood lymphocytes according to standard G-bandingmethods, polymerase chain reaction (PCR) was performed toscreen the microdeletions in the AZF region of the Y chromosome.Results: The present study shows that the total prevalence ofgenetic abnormalities is ۲۸.۴۱ %, including ۱۸۴ patients (۲۰.۹۱%) with chromosome disorder and ۶۶ patients (۷.۵ %) with Ychromosome microdeletions. The most prevalent chromosomeabnormality is Klinefelter's syndrome, which includes ۱۶۱ patients(۱۸.۳ %), ۷ patients had XX reversal male sex (۰.۸ %), ۲patients had ۴۷XYY (۰.۲۳ %) and ۲ patients had ۴۵XO/۴۶XY(۰.۲۳ %). Structural abnormalities occurred in ۱۲ patients (۱.۳۶%).Conclusions: The high prevalence of genetic abnormalities(۲۸.۴۱ %) in our study strongly suggests the need for routinegenetic testing and counseling prior to assisted reproduction insuch population with idiopathic infertility, as a result may helpdetermine the prognosis, as well as the choice of ART. Moreoverit allows specific pre-implantation genetic testing to minimizethe risk of transmitting genetic defects to offspring.

کلیدواژه ها:

Genetic Abnormality ، Non-Obstructive Azoospermia ، Microdeletion