Three-generation evaluation of Y-chromosome microdeletion

Sperm cells can be retrieved directly from the testis (testicular sperm ext raction [TESE] procedure) and used for intracytoplasmic sperm injection (IC SI), circumventing underlying spermatogenetic defects. Thus, it is importan t that added information be available on the genetic defects in men undergo ing TESE for the ICSI procedure and on the transmission of genetic factors associated with infertility to the offspring. We report a three-generation genetic analysis of a family with a case of male factor infertility. The pr oband, previously diagnosed as infertile, was physically examined and labor atory tested for gonadotrophic hormones, semen analysis, karyotype and Y-ch romosome microdeletion screening in the blood and testis. The Y-chromosome microdeletion screening was performed by multiplex polymerase chain reactio n with 20 Y-chromosome sequenced, tagged sites located at the Y chromosome. A microdeletion including the AZF-c region was detected in the azoospermic patient. His father, four brothers, and three offspring born after ICSI al so underwent Y-chromosome microdeletion screening. The genetic analysis of the male members of the patient's family did not reveal similar microdeleti ons. The newborn male was found to bear a Y-chromosome microdeletion simila r to that of his father. The fertilization capacity of the proband testicul ar microdeleted spermatozoa by the ICSI procedure is described. The transfe r of the genetic defect raises the possibility that the son will have the s ame fertility problem as his father.