Assisted reproduction for infertile patients with 9+0 immotile spermatozoa associated with autosomal dominant polycystic kidney disease

We investigated the clinical feature of patients with totally immotile spermatozoa due to 9+0 ultrastructural flagellar defects and polycystic kidney disease. We also tried to establish the feasibility of applying modern assisted reproduction technology (ART) in these patients. During 6-year interval a total of 1956 Japanese men were referred to the male infertility clinic. Of them, 16 were diagnosed to have immotile spermatozoa and four of them exhibited axonemal 9+0 defects in the sperm flagella. These four also had autosomal dominant polycystic kidney disease (ADPKD). Intrauterine insemination (IUI) and conventional in-vitro fertilization and embryo transfer failed to achieve fertilization. Intracytoplasmic sperm injection (ICSI) with 100% immotile spermatozoa was performed in all four cases. Two-pronuclear fertilization was obtained in 27 of the 70 (38.6%) of the successfully injected oocytes, but no pregnancy resulted. In one case, a few motile spermatozoa were present at the second cycle of ICSI, a pregnancy was successfully achieved using these spermatozoa. While immotile spermatozoa from patients with the axonemal 9+0 defect achieved fertilization by ICSI, the embryos failed to develop. Our results indicate that the central microtubules may play a role in fetal development. Since the 4 patients with 9+0 defects also had ADPKD, the genetic linkage between these two conditions should be studied by molecular biological methods so as to aid our ability to counsel such patients.