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 (PCR) 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 PCR 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.
Urology. 2016 Jul 26 [Epub ahead of print]
Yong-Sheng Zhang, Lin-Lin Li, Lin-Tao Xue, Hao Zhang, Yue-Ying Zhu, Rui-Zhi Liu
Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China., Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China., 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., Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China; Department of Genetics, Norman Bethune College of Medicine, Jilin University, Changchun, China., Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China., Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China. Electronic address: .