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F&S Reports Dec 2023To describe the clinical experience of managing expanded carrier screening (ECS) results in sperm donor applicants at a sperm bank in the United States, including...
OBJECTIVE
To describe the clinical experience of managing expanded carrier screening (ECS) results in sperm donor applicants at a sperm bank in the United States, including considerations around suitability determination and appropriate education of prospective donors and recipients.
DESIGN
A retrospective review of donor genetic screening records from July 2017 to December 2021.
SETTING
A U.S.-based sperm bank.
PATIENTS
Donor applicants at a sperm bank.
INTERVENTION
Not applicable.
MAIN OUTCOME MEASURES
To examine the rate of potentially significant health risks on the basis of ECS results to inform donor management and donor/recipient counseling considerations.
RESULTS
Nearly 2% of donor applicants were identified as having potentially significant health risks on the basis of their ECS results, and most individuals had no clinical manifestations related to these findings.
CONCLUSION
There are unique challenges related to ECS in third-party reproduction for gamete providers, recipients, and their healthcare providers. A collaborative, multidisciplinary approach is necessary to help mitigate risks to donor offspring and maximize patient experience. Informed consent and access to a trained genetics professional are paramount when facilitating ECS on donor applicants and disseminating results to recipients.
PubMed: 38204949
DOI: 10.1016/j.xfre.2023.10.005 -
Translational Andrology and Urology Dec 2023The testicular sperm instead of ejaculated sperm for intracytoplasmic sperm injection (ICSI) in infertile men with high sperm DNA fragmentation (SDF) is a controversial...
Outcomes comparison of testicular versus ejaculated sperm for intracytoplasmic sperm injection in infertile men with high DNA fragmentation: updated systematic review and meta-analysis.
BACKGROUND
The testicular sperm instead of ejaculated sperm for intracytoplasmic sperm injection (ICSI) in infertile men with high sperm DNA fragmentation (SDF) is a controversial topic. This updated systematic review and meta-analysis aims to evaluate whether couples with high level of SDF will benefit more from intracytoplasmic sperm injection with testicular sperm (Testi-ICSI) as compared to intracytoplasmic sperm injection with ejaculated sperm (Ejac-ICSI).
METHODS
A systematic search was conducted according to PRISMA guidelines, using PubMed, Embase, Web of Science and the Cochrane Central Register of Controlled Trials (CENTRAL), encompassing studies from the earliest record until May 2022. We included studies analyzing comparative pregnancy outcomes of testicular versus ejaculated sperm for ICSI in infertile men with high DNA fragmentation. The risks of bias and certainty of evidence were assessed using the Risk Of Bias In Non-randomized Studies of Interventions (ROBINS-I) and the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) framework, respectively.
RESULTS
Eleven studies were included. Meta-analysis showed that SDF levels revealed a significant difference association [odds ratio (OR) =-25.81; 95% confidence interval (CI): -34.82, -16.81; I=94%; P<0.00001] between testicular and ejaculated sperm. Compared with Ejac-ICSI, a non-significant tendency was observed for fertilization rates (FRs) in the Testi-ICSI group (OR =0.87; 95% CI: 0.67, 1.12; I=81%; P=0.28). However, there was significant difference pointing to better outcomes for Testi-ICSI in clinical pregnancy rates (CPRs) (OR =2.36; 95% CI: 1.71, 3.24; I=0%; P<0.00001), live birth rates (LBRs) (OR =3.10; 95% CI: 2.13, 4.51; I=4%; P<0.00001) and miscarriage rates (MRs) (OR =0.28; 95% CI: 0.13, 0.60; I=0%; P=0.001).
CONCLUSIONS
Results of this updated meta-analysis reveal that SDF rates are lower in testicular sperm than in ejaculated sperm and that Testi-ICSI is correlated with better clinical outcomes, including higher CPRs, higher LBRs, and lower MRs in infertile males with high SDF levels. Nevertheless, with the overall low to moderate quality of the studies, further well-designed controlled studies are required.
PubMed: 38196694
DOI: 10.21037/tau-23-415 -
Biology Open Jan 2024The 15th Network of Young Researchers in Andrology (NYRA) meeting, held at the Palace de Caux, Switzerland, served as a valuable platform to disseminate cutting-edge...
Empowering tomorrow's leaders: the impact of the 15th Network of Young Researchers in Andrology (NYRA) meeting on male reproductive health and interdisciplinary collaboration.
The 15th Network of Young Researchers in Andrology (NYRA) meeting, held at the Palace de Caux, Switzerland, served as a valuable platform to disseminate cutting-edge research and facilitate interactions among early-career researchers and trainees in andrology from around the world. Preceding the 22nd European Testis Workshop, the 2-day event brought together participants from a variety of countries to discuss a range of topics pertaining to men's reproductive health and biology. Specific focuses included piRNAs in mammalian reproduction, biomolecules enhancing sperm physiology, advances in in vitro spermatogenesis, reproductive strategies across species, and career development. A dedicated 'scientific speed-dating' social event also stood out, encouraging cross-disciplinary collaborations and strengthening ties within the scientific community. The high participation rate of the meeting highlighted its value in connecting the andrology community. Finally, the announcement of NYRA's merger with the European Academy of Andrology (EAA) marked a pivotal moment, enabling NYRA to support young researchers while collaborating with the EAA to advance andrology research. The 15th NYRA meeting played a crucial role in enhancing knowledge dissemination and andrology research, empowering young researchers, and addressing key challenges in male infertility.
Topics: Animals; Humans; Male; Andrology; Reproductive Health; Semen; Reproduction; Power, Psychological; Mammals
PubMed: 38180243
DOI: 10.1242/bio.060178 -
European Review For Medical and... Dec 2023The number of studies in the field of andrology is increasing day by day, but a bibliometric study covering the entire literature on andrology has not yet been...
A bibliometric perspective with research trends and global productivity on the modernization of andrology from the founder of modern clinical andrology Edward Martin to the present.
OBJECTIVE
The number of studies in the field of andrology is increasing day by day, but a bibliometric study covering the entire literature on andrology has not yet been conducted. This bibliometric study aims to shed light on the question of where we came from and where we are going in andrology from past to present. It also aimed to summarize the intellectual structure of andrology to reveal global productivity and identify and map the latest trends of scientific articles published in the field of andrology.
MATERIALS AND METHODS
16,659 articles published between 1980 and 2022 were extracted from the Web of Science and analyzed using various statistical methods. Bibliometric network visualization maps revealed trending topics, global productivity, the most influential studies, and international collaborations. Spearman's correlation analysis was used for determining correlations.
RESULTS
The top three productive countries were United States of America (3,452; 20.7%), China (2,300; 13.8%), and Germany (1,069; 6.4%). The top two most productive authors were Agarwal A. (n=130) and Nieschlag E. (n=130). The most productive institution was the Egyptian Knowledge Bank (n=422). From past to present, the most studied subjects were testis, male infertility, spermatozoa, testosterone, infertility, erectile dysfunction, spermatogenesis, sperm, prostate cancer (PCA)/neoplasms, oxidative stress, fertility/fertilization, semen, rat(s), apoptosis, azoospermia, sperm motility, human and varicocele.
CONCLUSIONS
The trend topics that have been researched more in recent years include erectile dysfunction, oxidative stress, prostate cancer, sperm quality, sperm parameters, infertility, premature ejaculation, diabetes mellitus, obesity, prognosis, sperm DNA fragmentation/damage, antioxidant, asthenozoospermia, varicocelectomy, COVID-19, inflammation, prostatectomy, metabolic syndrome, hypogonadism, benign prostatic hyperplasia, lower urinary tract symptoms, meta-analysis, sexual dysfunction, peyronie's disease, and proliferation. We identified the research leadership of China, Japan, Turkey and India, in addition to Western countries, such as the USA and European countries.
Topics: Animals; Humans; Male; Rats; Andrology; Erectile Dysfunction; Infertility, Male; Prostatic Neoplasms; Semen; Sperm Motility; United States; Bibliometrics
PubMed: 38164858
DOI: 10.26355/eurrev_202312_34794 -
The World Journal of Men's Health Jan 2024This study aimed to identify the altered pathways and genes associated with freezing damage in human sperm during cryopreservation by multiomics analysis.
PURPOSE
This study aimed to identify the altered pathways and genes associated with freezing damage in human sperm during cryopreservation by multiomics analysis.
MATERIALS AND METHODS
Fifteen fresh human semen samples were collected for transcriptomic analysis, and another 5 fresh human semen samples were obtained for metabolomic analysis. For each semen sample, 1 mL was cryopreserved, and another 1 mL was left untreated for paired design. The results were then combined with previously published proteomic results to identify key genes/pathways.
RESULTS
Cryopreservation significantly reduced sperm motility and mitochondrial structure. Transcriptomic analysis revealed altered mitochondrial function, including changes in tRNA-methyltransferase activity and adenosine tri-phosphate/adenosine di-phosphate transmembrane transporter activity. Metabolomic analysis showed that the citrate cycle in mitochondria was significantly altered. Combining transcriptomic, proteomic, and metabolomic analyses revealed 346 genes that were altered in at least two omics analyses. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis showed that metabolic pathways were significantly altered and strongly associated with mitochondria. Five genes were altered in all three omics analyses: , , , , and .
CONCLUSIONS
Five genes were identified by multiomics analysis in human cryopreserved sperm. These genes might have specific functions in cryopreservation. Explorations of the functions of these genes will be helpful for sperm cryopreservation and sperm motility improvement or even for reproduction in the future.
PubMed: 38164029
DOI: 10.5534/wjmh.230091 -
The Israel Medical Association Journal... Dec 2023Sperm banks initially focused on providing sperm donation (SD) to heterosexual couples grappling with severe male infertility. Notable advancements in fertility...
BACKGROUND
Sperm banks initially focused on providing sperm donation (SD) to heterosexual couples grappling with severe male infertility. Notable advancements in fertility treatments and sociological trends have broadened the scope of SD toward single women and same sex female couples.
OBJECTIVES
To evaluate SD recipient characteristics over the last three decades in Israel according to demographic parameters.
METHODS
This retrospective cohort study included 5489 women who received SD between January 1992 and December 2021 from a tertiary referral center. We divided the overall period into six groups of five years each. A comparison of demographic characteristics of women who received SD in different periods was performed according to age at the beginning of the treatment, marital status (single women and same sex female couples, heterosexual couples), and ethnic origin.
RESULTS
The average age of women who received SD was 37.02 ± 5.36 years. The average patient age rose from 35.08 years in 1992-1997 to 37.43 years in 2017-2021 (P-value < 0.01). The use of SD was more common among single women and same sex female couples compared to heterosexual couples in later years. Regarding single and same sex female couple, the percentage of SD recipients increased radically from 33% to 88.1% (P-value < 0.01).
CONCLUSIONS
Modern sperm banks treat older patients in non-heterosexual relationships. These trends encompass not only medical implications (e.g., in vitro fertilization vs. intrauterine insemination) but also delve into the personal and sociological impact experienced by both patients and offspring.
Topics: Humans; Male; Female; Adult; Retrospective Studies; Semen; Fertilization in Vitro; Spermatozoa; Demography
PubMed: 38142320
DOI: No ID Found -
Journal of Personalized Medicine Nov 2023To preserve male fertility after diagnosis of any kind of cancer, a prompt assessment of the semen quality and an appropriate semen cryopreservation must be performed...
To preserve male fertility after diagnosis of any kind of cancer, a prompt assessment of the semen quality and an appropriate semen cryopreservation must be performed before radio-chemotherapy starts. The present work aims to evaluate the semen parameters at diagnosis of different cancer patients before cryopreservation and after thawing. Testicular tumors and lymphomas are among the most common cancers in younger patients, and while chemotherapy significantly increases patients' survival, it can epigenetically alter the semen fluid, resulting in temporary or permanent infertility. We analyzed data from the database of the Gamete Cryopreservation Center (Annunziata Hospital, CS; Italy) in the period of 2011-2020 from a cohort of 254 cancer patients aged 18-56 years. The evaluation was performed in a blind manner and anonymously recovered; the main parameters referring to semen quality were assessed in accordance with the WHO guidelines and decision limits (6th edition; 2021). The cancer types were as follows: testis cancers (TC; = 135; 53.1%), hematological cancers (HC; = 76; 29.9%), and other types of cancer (OC; = 43; 17%). Comparing TC vs. HC (P) and vs. OC (P), TC had the worst semen quality: sperm number/mL (P = 0.0014; P = 0.004), total motility (P = 0.02; P = 0.07), progressive motility (P = 0.04; P = 0.05), viability (P = 0.01; P = 0.02), and percentage of atypical morphology (P = 0.05; P = 0.03). After semen thawing, viability and progressive motility recovery lowered, accounting for 46.82% and 16.75%, respectively, in the whole cohort; similarly, in the subgroups ascribed to TC, they showed the lowest recovery. Strong correlation existed between pre- and post-cryopreservation viability and progressive motility in the whole cohort ( < 0.001) and in the TC subgroup ( < 0.05). All cancer subgroups, to significantly different extents, had semen findings below the WHO reference values, suggesting diverse sperm susceptibilities to different cancers and cryodamage. Cancer and associated treatments epigenetically affect patients' semen quality, meaning cryopreservation should be considered a useful personalized prerogative for any kind of cancer in a timely manner.
PubMed: 38138881
DOI: 10.3390/jpm13121654 -
EBioMedicine Jan 2024Genomic variants outside of the canonical splicing site (±2) may generate abnormal mRNA splicing, which are defined as non-canonical splicing variants (NCSVs). However,...
BACKGROUND
Genomic variants outside of the canonical splicing site (±2) may generate abnormal mRNA splicing, which are defined as non-canonical splicing variants (NCSVs). However, the clinical interpretation of NCSVs in neurodevelopmental disorders (NDDs) is largely unknown.
METHODS
We investigated the contribution of NCSVs to NDDs from 345,787 de novo variants (DNVs) in 47,574 patients with NDDs. We performed functional enrichment and protein-protein interaction analysis to assess the association between genes carrying prioritised NCSVs and NDDs. Minigene was used to validate the impact of NCSVs on mRNA splicing.
FINDINGS
We observed significantly more NCSVs (p = 0.02, odds ratio [OR] = 2.05) among patients with NDD than in controls. Both canonical splicing variants (CSVs) and NCSVs contributed to an equal proportion of patients with NDD (0.76% vs. 0.82%). The candidate genes carrying NCSVs were associated with glutamatergic synapse and chromatin remodelling. Minigene successfully validated 59 of 79 (74.68%) NCSVs that led to abnormal splicing in 40 candidate genes, and 9 of the genes (ARID1B, KAT6B, TCF4, SMARCA2, SHANK3, PDHA1, WDR45, SCN2A, SYNGAP1) harboured recurrent NCSVs with the same variant present in more than two unrelated patients with NDD. Moreover, 36 of 59 (61.02%) NCSVs are novel clinically relevant variants, including 34 unreported and 2 clinically conflicting interpretations or of uncertain significance NCSVs in the ClinVar database.
INTERPRETATION
This study highlights the common pathology and clinical importance of NCSVs in unsolved patients with NDD.
FUNDING
The present study was funded by grants from the National Natural Science Foundation of China, China Postdoctoral Science Foundation, the Hunan Youth Science and Technology Innovation Talent Project, the Provincial Natural Science Foundation of Hunan, The Scientific Research Program of FuRong laboratory, and the Natural Science Project of the University of Anhui Province.
Topics: Adolescent; Humans; Mutation; Neurodevelopmental Disorders; RNA Splicing; Exons; RNA, Messenger; Histone Acetyltransferases; Carrier Proteins
PubMed: 38113761
DOI: 10.1016/j.ebiom.2023.104928 -
European Journal of Obstetrics &... Mar 2024Women are often concerned about the absolute quantity and quality of sperm in a thawed donor sample at the time of intrauterine insemination (IUI). The aim of this study...
OBJECTIVE
Women are often concerned about the absolute quantity and quality of sperm in a thawed donor sample at the time of intrauterine insemination (IUI). The aim of this study was to determine how the total motile sperm count (TMSC) of donor sperm obtained from commercial sperm banks affects the pregnancy rate after IUI.
STUDY DESIGN
We performed a retrospective cohort study including single women and women in same-sex relationships undergoing IUI at a single academic fertility center between January 2011 and March 2018. Our primary outcome was pregnancy rates per IUI cycle, stratified by post-washed TMSC. The data was analyzed according to TMSC and included three different groups: samples with a TMSC less than 5 million; TMSC of 5-10 million; and a TMSC greater than 10 million. Pregnancies were defined by a serum Beta-human chorionic gonadotropin (Beta-HCG) of greater than 5 mIU/mL. Chi-squared analyses and correlation coefficients were performed.
RESULTS
Overall, 9341 IUIs were conducted during the study period. Of these, 1080 (11.56%) were performed for single women and women in a same-sex relationship using commercially available donor sperm. We found that there were no differences in the pregnancy rates per insemination based on TMSC. The pregnancy rates per cycle were 15/114 (13.3%) for the group with a TMSC of less than 5 million; 34/351(9.5%) with a TMSC of 5-10 million; and 61/609 (10.0%) for samples with a TMSC greater than 10 million (p = 0.52). We found an insignificant correlation (r = -0.072) between donor sperm TMSC and pregnancy after IUI (p = 0.46). Furthermore, a reassuring beta-HCG level (>100IU/L) drawn 16 days after IUI was unrelated to TMSC (r = 0.0071, p = 0.94).
CONCLUSION
The pregnancy rate following IUI is unaffected by the TMSC of commercially available donor sperm. This result is useful in reassuring patients when freshly thawed donor sperm is found to have a lower TMSC. Frozen sperm samples from commercial banks typically represent just a portion of an ejaculate produced by a donor who meets the banks' standards for age, health and sperm quality. As such, exaggerated sperm death caused by freezing does not result in worse outcomes with donor sperm.
PubMed: 38111859
DOI: 10.1016/j.eurox.2023.100267 -
Asian Journal of Andrology Dec 2023In this study, we aimed to assess the effect of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on semen parameters. The study comprised 110 sperm...
In this study, we aimed to assess the effect of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on semen parameters. The study comprised 110 sperm volunteers who self-reported SARS-CoV-2 infection from the Human Sperm Bank of the Center for Reproductive Medicine, Shandong University (Jinan, China). The volunteers had normal sperm concentration before infection. Each volunteer provided semen samples before and after infection. We selected 90 days after infection as the cutoff point. Semen parameters within 90 days after infection of 109 volunteers (group A) were compared with semen parameters before infection. Moreover, semen parameters on or after 90 days after infection of 36 volunteers (group B) were compared with semen parameters before infection. Furthermore, based on whether the volunteers had completed the three-dose SARS-CoV-2 vaccination booster, volunteers in group A and B were further divided into two subgroups separately. Semen parameters were compared before and after infection in each subgroup. Our results showed that in this cohort population, the semen quality in volunteers with normal sperm concentrations before infection decreased after SARS-CoV-2 infection within 90 days, while the semen quality returned to preinfection levels after 90 days. The completion of a three-dose SARS-CoV-2 vaccination booster may exert a protective effect on semen quality after infection.
PubMed: 38063303
DOI: 10.4103/aja202367