- Diurnal and seasonal changes in semen quality of men in subfertile partnerships. [Journal Article]
- CIChronobiol Int 2018 Jun 18; :1-10
- Circadian and circannual rhythms influence not only the environment, but also human physiology. In times of increasing numbers of couples struggling with infertility, and thus increasing demand for s...
Circadian and circannual rhythms influence not only the environment, but also human physiology. In times of increasing numbers of couples struggling with infertility, and thus increasing demand for successful assisted reproduction, the aim of our study was to evaluate circadian and circannual rhythms and their association with semen quality. A total of 12 245 semen samples from 7068 men, collected at the andrology laboratory of the Department of Reproductive Endocrinology, University Hospital Zurich, between 1994 and 2015, were uniformly analysed in terms of sperm concentration, total sperm count, progressive motility and normal morphology. On the basis of these four parameters, we retrospectively examined the circadian and circannual changes of semen quality. The Mann-Whitney U test and multiple linear regression analysis were used for the statistical evaluation. The semen samples collected in the early morning before 7:30 a.m. showed the highest levels in sperm concentration, total sperm count and normal morphology, all with statistical significance. Progressive motility did not show any significant alterations based on circadian rhythm. Furthermore, a significant increase in sperm concentration and total sperm count was found in spring, with significant decreases in the summer. The highest percentage of normal morphology was found in summer. For progressive motility, no significant seasonal variation could be demonstrated. Male semen quality varies with both circadian and circannual rhythms. Collection of semen in the early morning, where semen quality was highest, can be used to improve natural fertility as well as fertility resulting from assisted reproduction.
- Peroxiredoxin 6 is the primary antioxidant enzyme for the maintenance of viability and DNA integrity in human spermatozoa. [Journal Article]
- HRHum Reprod 2018 Jun 15
- Are all components of the peroxiredoxins (PRDXs) system important to control the levels of reactive oxygen species (ROS) to maintain viability and DNA integrity in spermatozoa?
Are all components of the peroxiredoxins (PRDXs) system important to control the levels of reactive oxygen species (ROS) to maintain viability and DNA integrity in spermatozoa?
- Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development. [Journal Article]
- HRHum Reprod 2018 Jun 15
- Empty follicle syndrome (EFS) is a disorder associated with female infertility and presents as a complete failure to retrieve oocytes during ART cycles despite normal follicle development and careful...
Empty follicle syndrome (EFS) is a disorder associated with female infertility and presents as a complete failure to retrieve oocytes during ART cycles despite normal follicle development and careful aspiration. To date, only two EFS cases have been reported with homozygous missense mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, and both cases showed normal estradiol (E2) production during ovulation induction. The molecular genetic mechanisms of EFS remain unknown. Herein, we report two novel homozygous inactivating LHCGR mutations, c.736 C>T (p.Q246*) and c.846dupT (p.R283*), in two female EFS patients from unrelated consanguineous families. The probands had impaired E2 production during the ART process, which differs from previously reported EFS cases. The inactivating mutations not only led to EFS in the two female probands, but also resulted in 46, XY disorder of sex development (46, XY DSD) in their male siblings. As far as we know, this is the first report of LHCGR mutations leading to both EFS and 46, XY DSD within the same pedigree. Our findings provide researchers and clinicians with a better understanding of phenotype-genotype correlations between EFS and 46, XY DSD and the LHCGR gene.
- Clinical Features of Chromosome 6 Translocation in Male Carriers: A Report of 10 Cases and Review of the Literature. [Journal Article]
- MSMed Sci Monit 2018 Jun 18; 24:4162-4168
- CONCLUSIONS: Chromosome translocations involving chromosome 6 influence fertility status and lead to increased risk of miscarriage. Cytogenetic screening before opting for assisted reproductive technology and the breakpoints of chromosome 6 translocation should be considered for infertile male carriers.
- The Impact of 5α-Reductase Inhibitor Use for Male Pattern Hair Loss on Men's Health. [Review]
- CUCurr Urol Rep 2018 Jun 16; 19(8):65
- Male pattern hair loss, mediated by dihydrotestosterone, is a common hair loss disorder, affecting over 50% of men over the age of 50. The 5-α reductase inhibitors, finasteride and dutasteride, are F...
Male pattern hair loss, mediated by dihydrotestosterone, is a common hair loss disorder, affecting over 50% of men over the age of 50. The 5-α reductase inhibitors, finasteride and dutasteride, are Food and Drug Administration-approved drugs for the treatment of this disorder. Several recent studies have reported adverse sexual and spermatogenic events among young men using 5-α reductase inhibitors, such as erectile dysfunction, decreased ejaculate volume, decreased libido, and infertility. In this review, we summarize and analyze the literature regarding the efficacy and safety of these medications, with an overall focus on men's health.
- The increased level of Tspan5 in villi suggests more proliferation and invasiveness of trophoblasts in tubal pregnancy. [Journal Article]
- EJEur J Obstet Gynecol Reprod Biol 2018 Jun 05; 228:38-42
- CONCLUSIONS: Our study indicated that the trophoblasts in tubal pregnancy showed more proliferative and invasive characteristics. Dysregulation of Tspan5 in decidual microenvironment may relate to the retention of embryo in fallopian tube.
- Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice. [Journal Article]
- SRSci Rep 2018 Jun 15; 8(1):9202
- DDB1- and CUL4-associated factor 17 (Dcaf17) is a member of DCAF family genes that encode substrate receptor proteins for Cullin-RING E3 ubiquitin ligases, which play critical roles in many cellular ...
DDB1- and CUL4-associated factor 17 (Dcaf17) is a member of DCAF family genes that encode substrate receptor proteins for Cullin-RING E3 ubiquitin ligases, which play critical roles in many cellular processes. To unravel the function of DCAF17, we performed expression profiling of Dcaf17 in different tissues of wild type mouse by qRT-PCR and generated Dcaf17 knockout mice by gene targeting. Expression profiling of Dcaf17 showed highest expression in testis. Analyses of Dcaf17 transcripts during post-natal development of testis at different ages displayed gradual increase in Dcaf17 mRNA levels with the age. Although Dcaf17 disruption did not have any effect on female fertility, Dcaf17 deletion led to male infertility due to abnormal sperm development. The Dcaf17 -/- mice produced low number of sperm with abnormal shape and significantly low motility. Histological examination of the Dcaf17 -/- testis revealed impaired spermatogenesis with presence of vacuoles and sloughed cells in the seminiferous tubules. Disruption of Dcaf17 caused asymmetric acrosome capping, impaired nuclear compaction and abnormal round spermatid to elongated spermatid transition. For the first time, these data indicate that DCAF17 is essential for spermiogenesis.
- NLRP3 in Somatic Non-Immune Cells of Rodent and Primate Testes. [Journal Article]
- RReproduction 2018 Jun 15
- NLRP3 is part of the NLRP3 inflammasome and a global sensor of cellular damage. It was recently discovered in rodent Sertoli cells. We investigated NLRP3 in mouse, human and non-human primate (marmos...
NLRP3 is part of the NLRP3 inflammasome and a global sensor of cellular damage. It was recently discovered in rodent Sertoli cells. We investigated NLRP3 in mouse, human and non-human primate (marmoset and rhesus macaque) testes, employing immunohistochemistry. Sertoli cells of all species expressed NLRP3, and the expression preceded puberty. In addition, peritubular cells of the adult human testes expressed NLRP3. NLRP3 and associated genes (ASC, CASP1, IL1B) were also found in isolated human testicular peritubular cells (HTPCs) and the mouse Sertoli cell line TM4. Male infertility due to impairments of spermatogenesis may be related to sterile inflammatory events. We observed that the expression of NLRP3 was altered in the testes of patients suffering from mixed atrophy syndrome, in which tubules with impairments of spermatogenesis showed prominent NLRP3 staining. In order to explore a possible role of NLRP3 in male infertility, associated with sterile testicular inflammation, we studied a mouse model of male infertility. These human aromatase expressing transgenic mice (AROM+) develop testicular inflammation and impaired spermatogenesis during aging, and the present data show that this is associated with strikingly elevated Nlrp3 expression in the testes compared to wild type controls. Interference by aromatase inhibitor treatment significantly reduced increased Nlrp3 levels. Thus, throughout species NLRP3 is expressed by somatic cells of the testis, which are involved in testicular immune surveillance. We conclude that NLRP3 may be a novel player in testicular immune regulation. .
- Analysis on the association between sperm DNA fragmentation index and conventional semen parameters, blood microelements and seminal plasma ROS in male patients with infertility. [Journal Article]
- ETExp Ther Med 2018; 15(6):5173-5176
- We conducted this study to analyze the sperm DNA fragmentation index, conventional semen parameters, blood microelements and seminal plasma reactive oxygen species (ROS) in patients with male inferti...
We conducted this study to analyze the sperm DNA fragmentation index, conventional semen parameters, blood microelements and seminal plasma reactive oxygen species (ROS) in patients with male infertility to determine the association between each of the above male physiological parameters and DNA fragmentation index and infertility. Eighty cases of infertile males and 20 cases of normal males with children were divided into the infertility and control groups, respectively. Sperm DNA fragmentation index, conventional semen parameters, serum microelement content and seminal plasma ROS levels were detected, and the existing correlation between sperm DNA fragmentation index and the various physiological parameters were studied. The sperm DNA fragmentation index had no correlation with conventional sperm parameters. Our results demonstrated that zinc, lead and magnesium ions in the serum microelements were correlated with sperm DNA fragmentation (p<0.05). Upon an increase in zinc and lead serum concentration, there was a subsequent increase in sperm DNA fragmentation (p=0.008). Furthermore, when magnesium ion increased, it also caused an increase in sperm DNA fragmentation (p<0.05). The seminal plasma ROS of infertile males was higher than that of males with children (p<0.05). Our results suggest that sperm DNA fragmentation index is closely associated with the infertility rate and microelements of serum and seminal plasma ROS can impact the formation of sperm DNA fragmentation. Therefore, the sperm DNA fragmentation index can serve as an important parameter to assess male infertility.
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- From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. [Journal Article]
- GMGenet Med 2018 Jun 14
- CONCLUSIONS: We report an extraordinarily high frequency of FA in a specific subgroup of azoospermic patients (7.1%). The screening for FANCA pathogenic variants in such patients has the potential to identify undiagnosed FA before the appearance of other severe clinical manifestations of the disease. The definition of this high-risk group for "occult" FA, based on specific testis phenotype with mild/borderline hematological alterations, is of unforeseen clinical relevance.