title: Complete Azoospermia Factor b Deletion of Y Chromosome in an Infertile Male With Severe Oligoasthenozoospermia: Case Report and Literature Review.
abstract: To report on a male patient with complete deletion of azoospermia factor b (AZFb) who presented with severe oligoasthenozoospermia, but who successfully fathered a child via intracytoplasmic sperm injection (ICSI).
  
  
  
  Karyotype analysis of peripheral blood lymphocytes was performed by standard G-banding. Y chromosome microdeletions were detected by multiplex polymerase chain reaction amplification using AZF-specific, sequence-tagged site markers. The ICSI procedure was performed using ejaculated motile spermatozoa.
  
  
  
  Cytogenetic analysis of the patient revealed a normal male karyotype, 46,XY. Multiplex polymerase chain reaction screening showed complete deletion of AZFb demonstrated by the absence of specific sequence-tagged site markers sY121, sY127, sY134, and sY143. Following successful ICSI, an ultrasound scan of the patient's partner revealed a single pregnancy with cardiac activity. A healthy boy was born by cesarean section at 38 weeks of gestation. Genetic testing 2 years later revealed that the infant had inherited his father's AZFb deletion.
  
  
  
  Evidence from this case supports the fact that carriers of AZFb deletions can sometimes produce spermatozoa and father a son with the same AZFb deletion. This possibility reinforces the need for genetic counseling in patients with Y chromosome microdeletions.
authors.affiliation: Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China.
authors.forename: Yong-Sheng
authors.initials: YS
authors.lastname: Zhang
authors.affiliation: Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China.
authors.forename: Lin-Lin
authors.initials: LL
authors.lastname: Li
authors.affiliation: Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China; Reproductive Medicine and Genetic Centre, The People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
authors.forename: Lin-Tao
authors.initials: LT
authors.lastname: Xue
authors.affiliation: Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China; Department of Genetics, Norman Bethune College of Medicine, Jilin University, Changchun, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China.
authors.forename: Yue-Ying
authors.initials: YY
authors.lastname: Zhu
authors.affiliation: Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China. Electronic address: lrz420@126.com.
authors.forename: Rui-Zhi
authors.initials: RZ
authors.lastname: Liu
mesh_terms: D000328:Adult; D053627:Asthenozoospermia / Q000235:genetics*; D053713:Azoospermia / Q000235:genetics; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D006801:Humans; D007248:Infertility, Male / Q000150:complications*; D059785:Karyotype; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D012720:Severity of Illness Index; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000150:complications*