Recurrent miscarriage and male factor infertility: diagnostic and therapeutic implications. A narrative review.

Introduction: Recurrent miscarriage is defined as 2 or more failed clinical pregnancies, typically known as repeated pregnancy loss, occurring before 20 gestational weeks, and further categorized into primary and secondary types. It represents a common and distressing condition to deal with in the field of reproductive medicine, usually affecting <5% of couples, with up to 50% of cases lacking a clearly defined aetiology. The epidemiology also varies depending on maternal age. Remarkably, the situation significantly afflicts expecting parents, whereas maternal factors, such as age and previous pregnancy loss rate, are commonly reported as risk factors. Although previously underestimated, existing evidence suggests the male factor is a possible cause of recurrent pregnancy loss. Material and methods: A non-systematic literature review was conducted in the PubMed and Scopus databases for articles written in English investigating the possible association of the male factor in recurrent pregnancy loss. The eligible studies were synthesized in a narrative review format upon discussion and consensus among the authors after being previously independently assessed and selected. Results: Lifestyle, obesity, genetic predisposition, chromosomal anomalies, endocrine dysfunction, anatomical abnormalities, immunological factors, infections, and oxidative stress can result in poor embryo development and recurrent miscarriage. Although professional organizations currently recognize male gender as a possible risk factor, specific recommendations on the diagnostic and therapeutic field are still lacking, and the condition necessitates a high level of suspicion and case-by-case management. Conclusions: In this review, we delve deeper into the contribution of the male factor in the concept of recurrent miscarriage.

Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer.

BACKGROUND: The RNASEL G1385A variant was recently found to be implicated in the development of prostate cancer. Considering the function of RNase L and the pleiotropic effects of mutations associated with cancer, we sought to investigate whether the RNASEL G1385A variant is a risk factor for breast cancer. PATIENTS AND METHODS: A total of 453 breast cancer patients and 382 age- and sex-matched controls from Greece and Turkey were analyzed. Genotyping for the RNASEL G1385A variant was performed using an Amplification Refractory Mutation System (ARMS). RESULTS: Statistical evaluation of the RNASEL G1385A genotype distribution among breast cancer patients and controls revealed no significant association between the presence of the risk genotype and the occurrence of breast cancer. CONCLUSION: Although an increasing number of studies report an association between the RNASEL G1385A variant and prostate cancer risk; this variant does not appear to be implicated in the development of breast cancer.

Methylation status of the SNRPN and HUMARA genes in testicular biopsy samples.

OBJECTIVE: To analyze the methylation status of two differentially inherited and methylated loci (the human androgen receptor [HUMARA] and the small nuclear ribonucleoprotein-associated polypeptide N [SNRPN] gene) in testicular biopsy samples, and to compare the results with microscopic evaluation. DESIGN: Retrospective study. SETTING: Infertility clinics and genetics laboratories. PATIENT(S): Twelve obstructive and 74 nonobstructive azoospermic men. INTERVENTION(S): Deoxyribonucleic acid samples from testicular biopsies and peripheral blood were modified with sodium bisulfite and amplified by methylation-specific polymerase chain reaction assay. Polymerase chain reaction primers specific for the methylated regions of the HUMARA locus and for the methylated and unmethylated CpG islands of the SNRPN gene were used. MAIN OUTCOME MEASURE: Polymerase chain reaction product bands specific for methylated and unmethylated alleles. RESULT(S): Obstructive azoospermia patients were positive for spermatozoa and germ cells by all approaches (microscopic, HUMARA, and SNRPN analysis) with absolute consistency. In contrast, for the nonobstructive men, microscopy was consistent with SNRPN analysis as regards the presence of germ cells in 82% of the testicular tissues tested. Nonobstructive patients with maturation arrest were positive for the presence of germ cells only by HUMARA analysis, with 84% sensitivity. CONCLUSION(S): Methylation analysis of testicular tissue is consistent with microscopic analysis, in terms of the prevalence of germ cells and the stage of spermatogenic arrest in biopsy samples.