45,X/46,X,r(Y) karyotype transmitted by father to son after intracytoplasmic sperm injection for oligospermia - A case report

BACKGROUND: The advent of assisted reproductive techniques, such as intracy toplasmic sperm injection (ICSI), has permitted conception and successful p regnancy for an increasing population of infertile men. Approximately 13.7% of infertile men with aspermia and 4.6% with oligospermia have a coexisten t chromosome abnormality Although the ICSI procedure appears safe thus far, early studies are in progress to evaluate outcomes of such pregnancies. Fo r men whose infertility is linked to genetic conditions, it is an unprecede nted challenge to predict the potential effects on their offspring. CASE: At 18 weeks' gestation, a 45,X/46,X,r(Y) karyotype was found on genet ic amniocentesis performed for advanced maternal age. The pregnancy was ach ieved by ICSI using sperm from the husband, who was infertile due to severe oligospermia. Subsequently the same karyotype was found in the father. To our knowledge, this is the first reported case of familial transmission of ring Y chromosome. CONCLUSION: It is strongly recommended that ICSI and other new assisted rep roductive techniques be preceded by genetic screening for male infertility as well as other indications warranted by the family history since traditio nal risk assessment may require revision and outcomes may be uncertain in s ome cases.