title: Cytogenetic analysis of azoospermic patients: karyotype comparison of peripheral blood lymphocytes and testicular tissue.
abstract: OBJECTIVE
  The objective was to compare the results of a complete chromosomal, genetic and histological investigation in 13 azoospermic men with the results of the intracytoplasmic sperm injection (ICSI) procedure.
  
  
  METHODS
  Peripheral blood samples were used for the measurement of follicle-stimulating hormone (FSH) levels, chromosomal analysis, microdeletions in the azoospermia factor (AZF) region of the Y chromosome and cystic fibrosis transmembrane conductance regulator (CFTR) mutation analysis. Testicular tissue was used for histological scoring and cytogenetic evaluation.
  
  
  RESULTS
  Peripheral blood cytogenetic analysis revealed a normal male karyotype in all cases. Chromosomal analysis from testicular tissue revealed a mosaicism for the terminal deletion of chromosome 22 with a breakpoint site at 22q13 in one patient with congenital bilateral absence of the vas deferens (CBAVD). Deletions in the AZFa, ATFb, and AZFc regions were not detected. The CFTR mutational analysis showed normal results in all patients.
  
  
  CONCLUSIONS
  Cytogenetic evaluation of testicular tissue should be performed in non-obstructive and obstructive azoospermic patients as well as in patients with multiple failed IVF and recurrent spontaneous abortion.
authors.affiliation: Clinical Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Medical School, University of Zagreb, Sveti Duh Hospital, Sveti Duh 64, 10000 Zagreb, Croatia. stipoljev@yahoo.com
authors.forename: Feodora
authors.initials: F
authors.lastname: Stipoljev
authors.forename: Sanja
authors.initials: S
authors.lastname: Vujisić
authors.forename: Josip
authors.initials: J
authors.lastname: Parazajder
authors.forename: Daria
authors.initials: D
authors.lastname: Hafner
authors.forename: Davor
authors.initials: D
authors.lastname: Jezek
authors.forename: Jadranka
authors.initials: J
authors.lastname: Sertić
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000097:blood* / Q000235:genetics*; D001706:Biopsy; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods*; D004252:DNA Mutational Analysis; D005307:Fertilization in Vitro; D005640:Follicle Stimulating Hormone / Q000097:blood*; D056426:Genetic Loci; D006801:Humans; D007124:Immunoenzyme Techniques; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure*; D008297:Male; D029589:Seminal Plasma Proteins / Q000235:genetics; D020554:Sperm Injections, Intracytoplasmic; D013737:Testis / Q000473:pathology* / Q000648:ultrastructure
chemical_list: D029589:Seminal Plasma Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005640:Follicle Stimulating Hormone