cytogenetic abnormalities and y chromosome microdeletions in azoospermic and oligospermic infertile males from west of iran

Authors

farhad shaveisi-zadeh department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran

kimia davarian department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran

abolfazl movafagh department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran

reza mirfakhraie molecular pathology research center, imam reza hospital, kermanshah university of medical sciences, kermanshah, iran

abstract

about 15% of couples have infertility problems, half of which are related to male factors. cytogenetic and genetic disorders account for about 10% of the male infertility problems. the aim of this study was to determine the frequency and types of both cytogenetic abnormalities and azf microdeletions of y chromosome in idiopathic azoospermic and oligospermic infertile men in west of iran. in this case-control study, a total of 108 infertile men including 62 azoospermic and 46 oligospermic men were studied for the cytogenetic and azf microdeletions. moreover, 90 fertile men served as a control group. detailed clinical and laboratory examination was done for all participants. karyotyping was done on peripheral blood lymphocytes to detect the cytogenetic abnormalities; likewise, multiplex-pcr method was performed to identify the presence of microdeletion in azfa, azfb or azfc regions. chromosomal abnormalities were detected in 6.5% (7/108) of cases, including two oligospermic men with balanced autosomal rearrangements, one oligospermic and four azoospermic men with klinefelter syndrome. y chromosome microdeletions were detected in 4.6% (5/108) of infertile men (azfc: 3.7%, azfbc: 0.9%). no azfa deletion was detected in any of the patients. no chromosomal abnormality and y chromosome microdeletion was detected in control group. the prevalence of chromosomal abnormalities and y chromosome microdeletions shows the importance of genetic factors in male infertility. the analysis of karyotype and y microdeletions in infertile men provide a proper understanding about the causes of infertility, the choice of the appropriate assisted reproduction technique and reducing the risk of transmission of these genetic defects to the future generation.

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Journal title:
journal of paramedical sciences

جلد ۸، شماره ۲، صفحات ۱۶-۲۳

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