Cas Clinique / Case Report Globozoospermia Syndrome : Two Case

Globozoospermia syndrome is a rare teratozoospermia with an incidence below 0.1%. Presence of 100% round sperm heads, absence of acrosome, and messy sperm body and tail are the main characteristics of this syndrome. The activation ability of oocytes and consequently the fertilization rate decrease due to the absence of acrosome. The pathogenesis of this syndrome is not clear [1-2]. Globozoospermia originates from a disturbed acrosome biogenesis and lots of studies on animal species revealed that sperm acrosomes play a role in the fertilization rate. The genetic study of familial globozoospermia led to reveal that a homozygote mutation of the gene SPATA16 linked to the globozoospermic phenotype [3]. The others genes that are associated with complete globozoospermia are autosomal recessive genetic mutation in PIK1 and DPY19L2 deletion [4-6]. There are significantly greater percentages of sperm with DNA fragmentation, increase in the frequency of sex chromosome aneuploidy and disomy 8 in cases with globozoospermia compared to normal fertile men [78]. The fertilization rate of these cases is low and intracytoplasmic sperm injection (ICSI) proved to be an effective therapy [9]. There are two types of globozoospermia. Total globozoospermia consists of 100% round-headed acrosomeless spermatozoa whereas partial globozoospermia contains more than 50% acrosomeless spermatozoa [2]. Patients with total globozoospermia are absolutely infertile [10] but there are some reports of successful pregnancy and live births in cases of globozoospermia with severe oligoasthenospermia after intracytoplasmic sperm injection [11-12]. The fertilization rate improves in such cases after intracytoplasmic sperm injection (ICSI) combined with assisted oocyte activation [13]. Two cases of globozoospermia with infertility are detailed in this study.