摘要目的 探讨1例圆头精子症患者DPY19L2基因的突变情况及临床治疗.方法 通过瑞氏-姬姆萨染色法和透射电镜对患者的精子进行组织形态学观察;采用定量PCR技术检测患者DPY19L2基因的突变情况.结果 患者精子头部全部为圆形,无顶体,头核显示为深色,充实.精子在电镜下呈较大的圆头,核周围有一层均匀的单位膜,无顶体结构,有弥散的细胞质扩散和空泡.患者携带DPY19L2基因的纯合缺失.采用卵胞浆内单精子显微注射技术(intracytoplasmic sperm injection,ICSI)治疗,卵母细胞受精率为28.6％,使其妻成功妊娠并生育一男婴,表型正常.结论 DPY19L2基因纯合缺失为本例圆头精子症的发病原因.ICSI是治疗本病的有效途径,但存在卵母细胞受精率低下或受精失败的风险.

abstractsObjective To explore genetic mutation and elinical treatment for a patient with globozoospermia.Methods Histomorphology 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.Results Wright-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.Conclusion The 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.