title: Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis.
abstract: BACKGROUND
  Partial deletions of the AZFc region of the Y chromosome were reported to be a significant risk factor for oligo-/azoospermia. In this study, we assessed the occurrence and frequency of partial AZFc microdeletions in patients with spermatogenic failure and in controls with normal spermatogenesis.
  
  
  METHODS
  In a retrospective study design, gr/gr, b1/b3 and b2/b3 deletions were analysed by multiplex PCR in 170 men with normal spermatogenesis and 348 men with non-obstructive oligo-/azoospermia.
  
  
  RESULTS
  gr/gr deletions were found in 14 men with oligozoospermia or azoospermia (4.0%) and in three normozoospermic men (1.8%) (NS). b1/b3 deletions were found both in controls (n=1) and in patients (n=1). b2/b3 deletions were significantly more frequent in the normozoospermic (five out of 170) than in the oligo-/azoospermic men (two out of 348). Three novel partial AZFc deletion patterns were found in four oligo-/azoospermic men. No correlation with semen or other clinical parameters was found.
  
  
  CONCLUSIONS
  The frequency of gr/gr deletions is not significantly increased in men with oligo-/azoospermia, indicating that they are not sufficient per se to cause spermatogenetic impairment and infertility. b1/b3 and b2/b3 deletions are probably irrelevant for spermatogenesis. Novel deletion patterns found exclusively in infertile men suggest that other, still unexplored partial deletions might contribute to spermatogenic failure.
authors.affiliation: Institute of Reproductive Medicine and Institute of Legal Medicine, University of Münster, D-48149 Münster, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Hucklenbroich
authors.forename: J
authors.initials: J
authors.lastname: Gromoll
authors.forename: M
authors.initials: M
authors.lastname: Heinrich
authors.forename: C
authors.initials: C
authors.lastname: Hohoff
authors.forename: E
authors.initials: E
authors.lastname: Nieschlag
authors.forename: M
authors.initials: M
authors.lastname: Simoni
mesh_terms: D016022:Case-Control Studies; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D029589:Seminal Plasma Proteins / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics
chemical_list: D029589:Seminal Plasma Proteins