The Impact of Methylenetetrahydrofolate Reductase (MTHFR) Sperm Methylation and Variants on Semen Parameters and the Chance of Recurrent Pregnancy Loss in the Couple.

BACKGROUND: Recurrent pregnancy loss (RPL) defined as three or more consecutive spontaneous miscarriages before the 20th week of gestation is caused by different factors including genetic and epigenetic background. However the involvement of paternal background on RPL is an interesting novel argument, which is not well studied. The main focus of the present study was to investigate for the association of paternal methylenetetrahydrofolate reductase (MTHFR) epigenotypes with sperm parameters and RPL. Moreover, the frequency of two of MTHFR Single Nucleotide Polymorphisms (SNPs) in males was assessed. METHODS: This is a case-control study. Methylation Specific PCR (MSP) was used to evaluate the methylation status of MTHFR promoter on sperm DNA of 25 male partners of RPL and 25 male partners of non-RPL couples. PCR-RFLP method was used to analyze 1,298 A>C (rs1801131) and 677 C>T (rs1801133) polymorphisms. RESULTS: No significant difference was observed in frequency of methylated MTHFR epigenotype between RPL and non-RPL males. Furthermore, methylated MTHFR epigenotype was more frequent (but not statistically significant) among men with abnormal sperm parameters compared to normal-sperm men. Among studied polymorphisms, only the mutated allele of C677T showed statistically higher prevalence among RPL males. CONCLUSIONS: Although our results do not establish any connection between MTHFR epigenotypes and RPL they do highlight the impact of C677T in the pathology.

Infantile Spasms, Clinical Manifestations of a Rare Brain Tumor: A Case Report and Literature Review.

Desmoplastic infantile ganglioglioma (DIG) has a favorable prognosis and is classified as a benign infantile brain tumor. The DIG is more common in children under 2 years of age than in other age groups. This report introduces a 5.5 month-old infant who was referred with infantile spasms and diagnosed with a brain tumor. Brain magnetic resonance imaging showed a large heterogeneous mass in the right hemisphere with shifting to the other side. The patient underwent surgery. The extra-axial mass was completely resected, and the diagnosis of DIG grade I was confirmed by pathology. After one year, patient development was normal, and the seizures did not recur. In addition, the general condition was good. With a brief review and search in the literature, 13 case reports were identified 9 of which were male cases. The mean age of initial manifestation to final tumor diagnosis was 4 months. Out of 13 patients, 8 cases were reported with the mass origin in the right hemisphere. The most commonly observed tumors were glioma (n=4) and hypothalamic hamartoma (n=3). Except for three patients who died, the remaining had a complete recovery after tumor removal with a seizure-free interval at follow-up.