Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 45 6 2016 08 15 739 747 Meriem BAZIZ L.B.P.O/Section Endocrinology, Faculty of Biological Sciences, University of Sciences and Technology Houari Boumedienne, BP 32, EL ALIA, Bab-Ezzouar, Algiers, Algeria Zohra HAMOULI-SAID L.B.P.O/Section Endocrinology, Faculty of Biological Sciences, University of Sciences and Technology Houari Boumedienne, BP 32, EL ALIA, Bab-Ezzouar, Algiers, Algeria Ilham RATBI Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco Mohamed HABEL Feconde Clinic El Bordj, Bordj-El Kiffan, Algiers, Algeria Soukaina GUAOUA Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco Aziza SBITI Department of Medical Genetics, National Institute of Health, Rabat, Morocco Abdelaziz SEFIANI Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco Department of Medical Genetics, National Institute of Health, Rabat, Morocco 2016 06 28 2016 06 28 Background: In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyotype analysis in Algerian infertile men, using peripheral blood lymphocytes. Methods: A cytogenetic study was conducted on 10 men from infertile couples by Karyotype analysis of R-banding performed by lymphocyte culture technique. Fluorescence in situ hybridization was performed and molecular abnormalities were investigated by polymerase chain reaction. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) levels were evaluated by immunoradiometric method. Results: Chromosomal abnormalities were observed in 30% of the patients. We identified a homogenous Klinefelter syndrome patient with 47, XXY karyotype, a mosaic Klinefelter syndrome patient with 47, XXY/46, XY karyotype and a 46, XX male. Fluorescence in situ hybridization showed that the sex-determining region Y was translocated to the short arm of the X chromosome in patient with 46, XX chromosomal constitution and the presence of the SRY gene was confirmed by polymerase chain reaction and electrophoresis. Conclusion: The occurrence of chromosomal abnormalities in 30% of the infertile men strongly supports the inclusion of routine cytogenetic testing for diagnostic establishment and suitable counseling for couples seeking for assisted reproduction technologies.     https://ijph.tums.ac.ir/index.php/ijph/article/view/7078 https://ijph.tums.ac.ir/index.php/ijph/article/download/7078/5433