Study of cytomegalovirus infection in idiopathic infertility men referred to Shariati hospital, Tehran, Iran

Cytomegalovirus [CMV] is a prevalent infection in humans. Recent studies have shown the role of CMV infection in male infertility disorder. Here we aimed to study the role of CMV infection in men with idiopathic infertility. We performed a case-control study of CMV serology in 200 patients attending male infertility clinic of a university hospital. There were 154 men diagnosed with infertility and 46 men without infertility. The patients were asked to donate their sperm, blood, and urine. The presence of CMV infection was studied using quantitative polymerase chain reaction. CMV infection was present in 25 of all the studied participants. Controls had a higher sperm count and sperm motility and sperm morphology compared to patients. There were no significant differences in the studied variables between those with and without CMV infection, nor in patients, neither in controls. Sperm morphology was negatively correlated with cigarette smoking [r=-0.15; p<0.03]. Even though the prevalence of CMV infection was higher in patients with infertility in control and patient [5/46 vs. 20/154] respectively, this was not statistically significant. We did not show a significant role for CMV infection in male infertility. Based on the previous studies, it could be assumed that CMV infection is an important part of the male infertility and its treatment would improve the sperm quality, however this was not confirmed by the present study

Two cases of syndromic neutropenia with a report of novel mutation in G6PC3

Severe congenital neutropenia [SCN] is a rare primary immunodeficiency. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR. Also, recently G6PC3 as a rare gene in SCN has been reported. Patients with G6PC3 often have cardiac and/or urogenital malformations. Two patients with persistent severe neutropenia, recurrent infections and maturation arrest at promyelocyte-myelocyte stage in their bone marrow were assessed in this study. Both patients showed structural heart disease and one of them also showed urogenital anomaly. Sequence analyses of G6PC3 in 2 patients revealed two different homozygous mutations, one in exon 6 [Asn 313 fs], and the other in exon 3 [Ser 139 Met], the latter is a new mutation which has not been reported in previous studies. It can be concluded that G6PC3 is one of the responsible gene for SCN in Iranian patients. Based on the results, a new mutation in G6PC3 observed in one patient