Complete Azoospermia Factor b Deletion of Y Chromosome in an Infertile Male With Severe Oligoasthenozoospermia: Case Report and Literature Review

OBJECTIVE 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). MATERIALS AND METHODS 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. RESULTS 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. CONCLUSION 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. (C) 2016 Published by Elsevier Inc.