Mutation analysis and treatment of a case with globozoospermia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore genetic mutation and clinical treatment for a patient with globozoospermia.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>

Correlation among unexplained oligospermatism,azoospermatism and micro-deletion in AZF gene / 基础医学与临床

Objective To investigate the association among oligospermatism,azoospermatism in male sterility patients and micro-deletion in AZF gene of Y chromosome and to establish a integrate clinical diagnostic method for screening micro-deletion in AZF gene in Chinese.Methods PCR method was used to detect micro-deletion in AZF gene in 62 oligospermatism and azoospermatism patients and 20 normal male controls.Results 13.64%(6/44) of oligospermatism patients and 22.22%(4/18) of azoospermatism patients presented micro-deletion.However,micro-deletion was not found in 20 normal male controls.Furthermore,micro-deletion occur mostly in AZFc region.Conclusion Micro-deletion of AZF gene from Y chromosome is one of the major risks for oligospermatism and azoospermatism.