Abstract
► We report the first case of pericentric inv (12) associated with non-obstructive azoospermia. ► A 36-year-old man presented for semen analysis after 6 years of sexual intercourse. ► Cytogenetic investigation was performed on lymphocyte chromosomes. ► The karyotype revealed the presence of a pericentric inversion 46, XY, inv (12) (p12q12). ► Testicular histopathology confirmed the Sertoli cell-only syndrome.
Chromosome aberrations are found in 2–7% of couples with fertility problems and pericentric inversions are structural chromosomal abnormalities, potentially associated with infertility or multiple miscarriages. In this study, we report the first case of pericentric inversion of chromosome 12 associated with non-obstructive azoospermia. A karyogram revealed pericentric inversion of chromosome 12 with breakpoints at 12p12 and 12q12. Testicular histopathology confirmed the Sertoli cell-only syndrome.