title: Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia.
abstract: OBJECTIVE
  To evaluate the occurrence and prevalence of microdeletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in patients with azoospermia or severe oligozoospermia.
  
  
  METHODS
  Controlled clinical study.
  
  
  METHODS
  University infertility clinic.
  
  
  METHODS
  Infertile men (n = 168) with nonobstructive, idiopathic azoospermia or severe oligozoospermia and normal LH. The control group consisted of proven fathers (n = 86).
  
  
  METHODS
  None.
  
  
  METHODS
  Semen analysis; polymerase chain reaction amplification of the loci sY84, sY143, sY254, and sY255; serum FSH, LH, and T; testicular volume.
  
  
  RESULTS
  Deletions involving the sY254 and sY255 DAZ loci were found in three azoospermic patients and two men with sperm concentration < 1 x 10(6)/mL. Serum FSH was elevated in four patients and was normal in one. All five patients had decreased testicular volumes compared with controls. No deletions involving the sY84 and sY143 loci were found. The four loci were amplified normally in the control group.
  
  
  CONCLUSIONS
  The estimated frequency of deletions involving the DAZ locus is 3% in azoospermic-severely oligozoospermic men consulting an infertility clinic. Polymerase chain reaction amplification of the DAZ locus is useful for the diagnosis of microdeletions of the Y chromosome. Deletions involving more proximal regions of the Y chromosome seem to be rare.
authors.affiliation: Institute of Reproductive Medicine of the University, Münster, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Simoni
authors.forename: J
authors.initials: J
authors.lastname: Gromoll
authors.forename: B
authors.initials: B
authors.lastname: Dworniczak
authors.forename: C
authors.initials: C
authors.lastname: Rolf
authors.forename: K
authors.initials: K
authors.lastname: Abshagen
authors.forename: A
authors.initials: A
authors.lastname: Kamischke
authors.forename: C
authors.initials: C
authors.lastname: Carani
authors.forename: D
authors.initials: D
authors.lastname: Meschede
authors.forename: H M
authors.initials: HM
authors.lastname: Behre
authors.forename: J
authors.initials: J
authors.lastname: Horst
authors.forename: E
authors.initials: E
authors.lastname: Nieschlag
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002872:Chromosome Deletion; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D009845:Oligospermia / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics*; D012661:Semen; D013076:Sperm Count; D013737:Testis / Q000033:anatomy & histology; D013739:Testosterone / Q000097:blood; D014998:Y Chromosome
chemical_list: C095668:DAZ1 protein, human; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone