Sperm chromatin integrity in a man with macrocephaly syndrome

This study reports chromatin status and ICSI outcomes in a case of sperm macrocephaly syndrome(SMS), showing 100% of spermatozoa with abnormal morphology. Percentages of sperm DNA fragmentation for TUNEL (31.7% versus 6.5%), SCSA (33% versus 25%) assays, chromatin maturity tests, CMA3 (58% versus 29%) and aniline blue (63% versus 35%) staining were higher in case sample compared to the fertile sample. Artificial oocyte activation resulted in a similar fertilisation rate between case and control samples (71% versus 66.7%), but the case showed delayed embryo development on day 3 post-insemination. Unlike fertile case, no embryos reached the blastocyst stage. The result of this case study shows that macrocephaly is associated with reduced chromatin maturity and DNA integrity. Although both cases showed a similar chance for fertilisation through artificial chemical activation for only macrocephalic man, the developmental competency is jeopardised in such cases.