1.Mutation analysis and treatment of a case with globozoospermia.
Xiaoqun LIU ; Ruiyu HAN ; Jing MA ; Jiangqian WU ; Xiaoxiao SONG ; Zhanyu ZHANG ; Zhangquan GAO ; Xianggai ZHANG
Chinese Journal of Medical Genetics 2017;34(5):764-766
OBJECTIVETo explore genetic mutation and clinical treatment for a patient with globozoospermia.
METHODSHistomorphology of the sperms was studied by Wright-Giemsa staining and transmission electron microscopy. Potential mutation of the DPY19L2 gene was detected by PCR amplification and Sanger sequencing.
RESULTSWright-Giemsa staining showed that all spermatozoa from the patient were round-headed and lacked the acrosome, with the nuclei of sperm head stained in dark and full. Transmission electron microscopy revealed large round sperm heads, with an even layer of unit membrane surrounding the nuclei and dispersed cytoplasmic vacuoles but no acrosomal structure. The patient has harbored a homozygous deletion of the DPY19L2 gene. With intracytoplasmic sperm injection (ICSI) treatment, fertilization rate of the oocytes has reached 28.6%, which resulted in a successful pregnancy. A healthy male was born.
CONCLUSIONThe homozygous deletion of DPY19L2 probably underlies the globozoospermia in this case, for which ICSI has provided an effective treatment. However, there is still a risk of low oocyte fertilization rate or fertilization failure. Further studies are required.
Adult ; DNA Mutational Analysis ; Humans ; Infant, Newborn ; Male ; Membrane Proteins ; genetics ; Mutation ; Sperm Injections, Intracytoplasmic ; Teratozoospermia ; genetics
Result Analysis
Print
Save
E-mail