Globozoospermia is a rare form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. Acrosome plays an important role at the site of sperm-zona pellucida binding during the fertilization process. It was suggested that a homozygous mutation in SPATA16 was associated with male infertility in human globozoospermia. It has also been reported that a recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
Disruption of several mouse genes, including GOPC, HRB, and CSNK2A2, results in a phenotype similar to globozoospermia in humans. However, no causative gene mutations have been identified in these orthologues. Recently, a newly discovered mutation in PICK1 in a human with globozoospermia was reported.
