title: [Detection of Y chromosome microdeletions in patients with severe oligozoospermia and azoospermia].
abstract: OBJECTIVE
  To explore the clinical significance of azoospermia factor (AZF) region deletion.
  
  
  METHODS
  Detection of the Y-link sequence tagged sites in AZF region was conducted by means of 2 multiplex polymerase chain reactions among 80 patients with severe oligozoospermia and 63 patients with azoospermia, totally 143.
  
  
  RESULTS
  Twenty-one cases of microdeletion were found among the 143 infertile patients with a prevalence of 14.7%. PCR analysis showed that deletion of the portions of Yq in 12 of the 62 idiopathic infertility patients, 3 being with severe oligozoospermia and 9 with azoospermia, and in 9 out of the 81 patients with non-idiopathic infertility. PCR analysis of 40 normal fertile men did not detect any abnormality. The results of the microdeletion showed that 1 patient had a microdeletion in the AZFa region with sY84 and sY86 (1/21, 4.8%), 2 patients presented a large deletion involving sY127 and sY143 from AZFb, and sY254 and sY255 from AZFc (1/21, 9.5%). Two patients had the deletions located in AZFb region (2/21, 9.5%), and 16 patients had a deletion on the AZFc region involving the DAZ (deleted in azoospermia) gene (16/21, 76.2%) Among the 21 infertile men 4 showed a testicular cytologic picture of maturation arrest, 6 patients had severe hypospermatogenesis, and 11 had Sertoli cell-only syndrome. There were not significant differences in location and extent of deletions between the patients with idiopathic infertility and those with non-idiopathic infertility.
  
  
  CONCLUSIONS
  It is recommended to carry out screening of microdeletion of Y chromosome among the patients with idiopathic and non-idiopathic infertility, especially the candidates for intracytoplasmic sperm injection.
authors.affiliation: Department of Urology, First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Ning-hong
authors.initials: NH
authors.lastname: Song
authors.forename: Hong-fei
authors.initials: HF
authors.lastname: Wu
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Li-xin
authors.initials: LX
authors.lastname: Hua
authors.forename: Zuo-min
authors.initials: ZM
authors.lastname: Zhou
authors.forename: Ning-han
authors.initials: NH
authors.lastname: Feng
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Di
authors.initials: D
authors.lastname: Qiao
authors.forename: Jie-xiu
authors.initials: JX
authors.lastname: Zhang
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D007223:Infant; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction