title: Y-chromosome microdeletions and cytogenetic findings in unselected ICSI candidates at a Danish fertility clinic.
abstract: OBJECTIVE
  To determine the frequency and type of microdeletions on the Y chromosome, and to evaluate cytogenetic findings in unselected ICSI candidates at a Danish Fertility Clinic.
  
  
  METHODS
  Genomic DNA was extracted from blood samples, which were collected prospectively from 400 ICSI candidates attending the Fertility Clinic at Aarhus University Hospital, Denmark. Twenty-five sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified in 5 multiplex sets to investigate Y microdeletions. Semen analysis, karyotype analysis, and histological evaluation of testicular biopsies were also performed.
  
  
  RESULTS
  Y microdeletions were detected in 3 (0.75%) of 400 unselected ICSI candidates. The frequency of Y microdeletions was found higher in azoospermic men (2%) than in oligozoospermic men (0.6%). Two patients having oligozoospermia had Y microdeletions in the AZFc region only, whereas the patient having azoospermia had Y microdeletions spanning the AZFb and AZFc regions. No microdeletion was detected in the AZFa region. Chromosomal anomalies were found in 6.1% of azoospermic men and in 2.7% of oligozoospermic men. A high frequency of cytogenetic abnormalities was found in normozoospermic men with fertilization failure (7.4%).
  
  
  CONCLUSIONS
  The frequency of Y microdeletions both in the unselected ICSI candidates and subgroups classified as azoospermic and oligozoospermic seems rather low compared to results of previous studies, which have been quite varying. It is possible that in addition to patient selection criteria, ethnical and geographical differences may contribute to these variations. Cytogenetic evaluation of normozoospermic men with fertilization failure seems indicated because of a high frequency of cytogenetic abnormalities.
authors.affiliation: Fertility Clinic, Aarhus University Hospital, Denmark. prbor@hotmail.com
authors.forename: Pinar
authors.initials: P
authors.lastname: Bor
authors.forename: Johnny
authors.initials: J
authors.lastname: Hindkjaer
authors.forename: Steen
authors.initials: S
authors.lastname: Kølvraa
authors.forename: Hans Jakob
authors.initials: HJ
authors.lastname: Ingerslev
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D003718:Denmark; D004587:Electrophoresis, Agar Gel; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D029589:Seminal Plasma Proteins / Q000235:genetics; D016324:Sequence Tagged Sites; D013737:Testis / Q000473:pathology
chemical_list: D029589:Seminal Plasma Proteins; D004247:DNA