Low responder patients entering a PGD program might increase their chances for a healthy pregnancy by repeat ovarian stimulation in combination with cumulative oocyte or embryo vitrification.

Background: Low (or poor) responder patients are women who require large doses of stimulation medications and produce less than an optimal number of oocytes during IVF cycles. Low responder patients produce few oocytes and embryos, which significantly reduces their chances for success in a preimplantation genetic diagnosis (PGD) cycle. Accumulation of vitrified oocytes or embryos before the actual PGD cycle is a possible strategy that might increase patient’s chances for a healthy pregnancy. Aim of the study: This retrospective study evaluates the efficacy of a PGD program in low responder patients after repeated ovarian stimulation cycles with cumulative vitrification of oocytes and embryos. Methods: Over a period of 30 months, 13 patients entering the PGD program were identified as poor responders after their first ovarian stimulation. These patients started a PGD cycle for one of the following indications: history of recurrent implantation failure (n=1), cystic fibrosis (n=1), X-linked microtubular myopathy (n=1), recurrent miscarriages (n=5), Duchene muscular dystrophy (n=1), chromosomal translocation (n=1) and high sperm aneuploidy (n=1).  After multiple ovarian hormonal stimulations patients had either all mature oocytes (Group A; 3 patients) or all of their day 2 embryos vitrified (group B; 10 patients). Mean total number of oocyte collections per patient was 2.3 (range: 2 - 5 cycles). Results: In the actual PGD cycle, all vitrified oocytes from group A patients were warmed and underwent intra cytoplasmic sperm injection (ICSI) followed by culture up to day 3. For group B patients all vitrified day 2 embryos were warmed and cultured overnight. On day 3 of culture, all embryos from Group A and B had blastomere biopsy followed by genetic analysis. In group A, 20 embryos were found suitable for biopsy and genetic analysis; at least one healthy embryo was available for transfer for each patient.  For group B, 72 embryos in total were available for biopsy and PGD.  All patients, except one, had at least one healthy day 5 embryo for transfer (mean number of 2.1 embryos per transfer). Nine patients had a clinical pregnancy; 7 patients delivered a healthy baby. Conclusion: Low responder patients entering a PGD program might increase their chances for a healthy pregnancy by repeat ovarian stimulation in combination with cumulative oocyte or embryo vitrification.

No abstract

Background Male infertility is currently one of the most common problems faced by couples worldwide. We performed a GWAS on Greek population and gathered statistically significant SNPs in order to investigate whether they lie within or near lncRNA regions.Objectives The aim of this study was to investigate whether polymorphisms on or near lncRNAs affect interactions with miRNAs and can cause male infertility. Materials and methods In the present study, a GWAS was conducted, using samples from 159 individuals (83 normozoospermic individuals and 76 patients of known fertility issues). Standard procedures for quality controls and association testing were followed, based on case-control testing. Results We detected six lncRNAs (LINC02231, LINC00347, LINC02134, NCRNA00157, LINC02493, Lnc-CASK-1) that are associated with male infertility through their interaction with miRNAs. Furthermore, we identified the genes targeted by those miRNAs and highlighted their functions in spermatogenesis and the fertilization process. Discussion and conclusion lncRNAs are involved in spermatogenesis through their interaction with miRNAs. Thus, their study is very important, and it may contribute to the understanding of the molecular mechanisms underlying male infertility.

Our ability to predict the potential of testicular spermatozoa to support embryonic development is still limited. Although motility of testicular spermatozoa is associated with embryo development, the impact of morphology and the presence of spermatozoa in the testicular sample has not been previously researched. Moreover, while the majority of data indicate no effect of cryopreservation, there are studies reporting impaired clinical outcomes due to testicular cryopreservation. In a retrospective study, 118 ICSI‐TESE cycles were analysed to study the impact of (a) total quality of testicular tissue, (b) testicular tissue cryopreservation and (c) presence/motility/morphology of testicular spermatozoa in fertilisation rate, embryonic development, clinical pregnancy (CPR), ongoing pregnancy (OPR) and live birth rate (LBR). Results showed that fertilisation rate was significantly affected by both total quality of testicular tissue (p < .05) and rare presence of spermatozoa (p < .01). Moreover, total tissue quality (p < .01), cryopreservation of low‐quality samples (p < .01), absence of motile testicular spermatozoa (p < .01) and poor spermatozoa morphology (p < .05) had a negative impact on the number of good quality day 3 embryos. CPR, OPR or LBR was not affected by any parameters examined. Our data suggest that the quality of testicular tissue influences both fertilisation rate and embryo development. Moreover, cryopreservation of low‐quality testicular samples has a negative impact on the number of available embryos for transfer.

Male infertility is a global health problem that affects a large number of couples worldwide. It can be categorized into specific subtypes, including teratozoospermia. The present study aimed to identify new variants associated with teratozoospermia in the Greek population and to explore the role of genes on which these were identified. For this reason, whole-genome sequencing (WGS) was performed on normozoospermic and teratozoospermic individuals, and after selecting only variants found in teratozoospermic men, these were further prioritized using a wide range of tools, functional and predictive algorithms, etc. An average of 600,000 variants were identified, and of them, 61 were characterized as high impact and 153 as moderate impact. Many of these are mapped in genes previously associated with male infertility, yet others are related for the first time to teratozoospermia. Furthermore, pathway enrichment analysis and Gene ontology (GO) analyses revealed the important role of the extracellular matrix in teratozoospermia. Therefore, the present study confirms the contribution of genes studied in the past to male infertility and sheds light on new molecular mechanisms by providing a list of variants and candidate genes associated with teratozoospermia in the Greek population.

Background and Aims Collection of epidemiological data has become a crucial step in every fertility evaluation, especially regarding idiopathic male infertility. Information on data such as tobacco smoking, alcohol intake, and body mass index can provide crucial information regarding the dynamics between fertility status and everyday practices. We aim to set the base for epidemiological studies on male infertility in the Greek population. Methods Four hundred and fourteen Greek volunteers were asked to fill in a questionnaire regarding their characteristics and lifestyle preferences, followed by a seminogram. Depending on their answers, they were divided into groups and data were analyzed for correlation with seminogram parameters using Spearman's rank correlation test. Results Our results indicate that a high body mass index (BMI) is negatively correlated with all three seminogram parameters (number, motility, and morphology) and exposure to radiation or chemicals is negatively correlated with sperm motility, with a p < 0.01. Conclusions These findings indicate negative correlations of BMI and exposure to radiation/chemicals with semen parameters in the Greek population. Such information can be used to plan a diagnostic approach or even therapeutic interventions.

Obesity is a chronic health problem associated with severe complications and with an increasing prevalence in the Western world. Body-fat composition and distribution are closely associated with obesity, but the human body’s composition is a sexually dimorphic trait, as differences between the two sexes are evident even from fetal life. The effect of sex hormones contributes to this phenomenon. However, studies investigating gene-by-sex interactions for obesity are limited. Therefore, the aim of the present study was to identify single-nucleotide polymorphisms (SNPs) associated with obesity and overweight in a male population. A genome-wide association study (GWAS) that included 104 control, 125 overweight, and 61 obese subjects revealed four SNPs associated with overweight (rs7818910, rs7863750, rs1554116, and rs7500401) and one SNP (rs114252547) associated with obesity in males. An in silico functional annotation was subsequently used to further investigate their role. Most of the SNPs were found in genes regulating energy metabolism and homeostasis, and some of them were expression quantitative trait loci (eQTL). These findings contribute to the understanding of the molecular mechanisms underlying obesity-related traits, especially in males, and pave the road for future research toward the improvement of the diagnosis and therapy of obese individuals.