Genetic Testing of Infertile Patients

[摘要] The urologist needs to be aware of what tests to perform in the workup of the infertile patient. In the last few years, as molecular biology has moved from the laboratory to the bedside, it is becoming apparent that many men with a zero sperm count (azoospermia) or a low sperm count (oligospermia) may have genetic abnormalities causing their infertility, and, more importantly, these abnormalities could be passed on to their offspring. Because the Y chromosome is inherited from the father, it stands to reason that genetic defects located on the Y chromosome could be transmitted during fertilization from father to son. Many of these genetic defects are naturally self-limiting, that is, only the affected man is unable to achieve fertilization normally and cannot pass on the genetic defects. The advent of intracytoplasmic sperm injection (ICSI) with in vitro fertilization (IVF) bypasses this natural selection process and allows these genetic defects to be transmitted. Because many of these genetic abnormalities affecting spermatogenesis have both diagnostic and prognostic significance and are increasingly being recognized at the molecular level, it is imperative that urologists become familiar with the tests used to identify such patients.

[学科分类] 基础医学