title: Incidence of microdeletions in the AZF region of the Y chromosome in Slovak patients with azoospermia.
abstract: OBJECTIVE
  The Y chromosome accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes. The long arm contains azoospermia factor (AZF) region (including sub-regions AZFa, AZFb and AZFc). Microdeletions in this region are responsible for azoospermia and oligospermia and result in the male infertility. The aim of this study was to analyze incidence of microdeletions in the AZF region of Y chromosome in patients with azoospermia from Slovakia.
  
  
  METHODS
  Over the period from 2005 to 2009 a total of 239 men (mean age 31.74 years) were analyzed. The diagnosis of azoospermia was established on the basis of semen analysis. All patient samples were analyzed cytogenetically. Chromosomal analysis was performed on all patients on cultured lymphocytes from peripheral blood. For exact diagnosis of microdeletions in AZF region we used a PCR-method using a set of sequence-tagged sites from all AZF sub-regions (according to the recommendation by the European Academy of Andrology and the European Quality Monitoring Network Group).
  
  
  RESULTS
  Among our 226 patients with azoospermia and with normal karyotype, 8 patients (mean age 30.6 years) had microdeletions in the AZF region of the Y chromosome (3.35%). Considering particular types of deletions we determined deletions in each region AZFa,b,c but also a complete deletion of the entire AZF region. The presence of microdeletion(s) in the AZFc region was the most frequent. In our study we found 12 patients (5%) with 47,XXY karyotype (Klinefelter syndrome), but these patients didn't have microdeletion of Y chromosomes.
  
  
  CONCLUSIONS
  The study confirmed that percentage of microdeletions in the AZF region is low in Slovak azoospermic patients, but important from a prognostic view.
authors.affiliation: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
authors.forename: Regina
authors.initials: R
authors.lastname: Behulova
authors.forename: Ivan
authors.initials: I
authors.lastname: Varga
authors.forename: Lubica
authors.initials: L
authors.lastname: Strhakova
authors.forename: Alexandra
authors.initials: A
authors.lastname: Bozikova
authors.forename: Dana
authors.initials: D
authors.lastname: Gabrikova
authors.forename: Iveta
authors.initials: I
authors.lastname: Boronova
authors.forename: Vanda
authors.initials: V
authors.lastname: Repiska
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D008297:Male; D029589:Seminal Plasma Proteins / Q000235:genetics*; D018154:Slovakia
chemical_list: D029589:Seminal Plasma Proteins