title: Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 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.
authors.forename: Meriem
authors.initials: M
authors.lastname: Baziz
authors.affiliation: 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.
authors.forename: Zohra
authors.initials: Z
authors.lastname: Hamouli-Said
authors.affiliation: Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
authors.forename: Ilham
authors.initials: I
authors.lastname: Ratbi
authors.affiliation: Feconde Clinic El Bordj, Bordj-El Kiffan, Algiers, Algeria.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Habel
authors.affiliation: Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
authors.forename: Soukaina
authors.initials: S
authors.lastname: Guaoua
authors.affiliation: Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
authors.forename: Aziza
authors.initials: A
authors.lastname: Sbiti
authors.affiliation: Human Genome Center, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco; Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
keywords: Azoospermia; Cytogenetic; Male infertility; Severe oligozoospermia