Analysis of sperm phenotype,pathogenic genes and assisted reproductive therapy outcomes in patients with total globozoospermia
Objective To analyze the clinical phenotype,sperm morphological characteristics and assisted reproductive therapy efficiency in patients with total globozoospermia.Methods Four male patients with total globozoospermia were collected during November 2019 to May 2022 from Reproductive Medical and Genetic Center,the People's Hospital of Guangxi Zhuang Autonomous Region.Peripheral blood samples were collected for genetic detection and the whole exome sequencing to explore the pathogenic genes.Semen characteristics,sperm morphology and ultrastructure were analyzed.Four patients were treated with intracytoplasmic sperm injection(ICSI)combined with artificial oocyte activation(AOA).Conventional ICSI cycles(n=9)were selected as control group,and the development dynamic parameters were monitored by Time-lapse.The fertilization and embryo development parameters,developmental dynamic parameters and clinical outcomes were analyzed between the two groups.Results Four patients were complicated with low sperm motility and increased sperm DNA fragmentation.Sperm morphology analysis and acrosome fluorescence staining represented that all the spermatozoas were with a small round head lacked of acrosome.By the transmission electron microscope,it was observed that round-headed spermatozoas were lacked of acrosome completely,loose chromatin structure,vacuolation and other abnormal changes in the head,mitochondrial sheath in neck were reduced arranged in disorder,and the structure of"9+2"of the flagellar axial filament was incomplete.Of the 4 patients,1 was homozygous deletion of DPY19L2 gene and 1 was homozygous frameshift mutation of DPY19L2 gene.There were no significance differences in fertilization rate,two pronuclei fertilization rate,day 3 high-quality embryo rate,day 6 blastocyst formation rate and day 6 high-quality blastocyst formation rate between total globozoospermia group and control group(all P＞0.05).The developmental dynamic parameters as the time at which the second polar body is extruded,the time when both(or the last)PN disappear,two to six discrete cells in the total globozoospermia group were significantly earlier than those in control group,and the difference was statistically significant(all P＜0.05).There was no significant difference in the embryo cleavage patterns between the two groups(P＞0.05).Among the 4 patients with total globozoospermia,2 live births with signal healthy male baby were achieved by fresh embryo transfer,and 2 live births with one signal healthy male baby and one healthy female baby were achieved by frozen-thawed embryo transfer respectively.Conclusion Abnormal morphology characteristics of spermatozoas from patients with total globozoospermia are obvious,patients with total globozoospermia could have favorable clinical outcomes following ICSI combined with AOA.
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