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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(9): 849-852, 2021 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-34487528

RESUMO

OBJECTIVE: To explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease. METHODS: Genomic DNA of peripheral blood samples of patients and their parents was extracted and gene variant analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis. RESULTS: Whole exome sequencing showed that the DNAH1 gene of patient 1 had two heterozygous variants of c.2016T>G(p.Y672X) and c.6017T>G (p.V2006G). The DNAH1 gene of patient 2 had a homozygous variant of c.2610G>A(p.W870X), which were inherited from his father and mother, respectively. According to American College of Medical Genetics and Genomics standards and guidelines, the c.2016T>G (p.Y672X) and c.2610G>A (p.W870X) varaints of DNAH1 gene were predicted to be pathogenic (PVS1+PM2+PM3+PP3). CONCLUSION: The two patients of multiple morphological abnormalities of the sperm flagella may be caused by DNAH1 gene variant, which has resulted in primary male infertility.


Assuntos
Dineínas , Infertilidade Masculina , Cauda do Espermatozoide , Dineínas/genética , Genômica , Humanos , Infertilidade Masculina/genética , Masculino , Mutação , Cauda do Espermatozoide/patologia , Sequenciamento Completo do Exoma
2.
Urologiia ; (4): 73-78, 2021 Sep.
Artigo em Russo | MEDLINE | ID: mdl-34486278

RESUMO

INTRODUCTION: Varicocelectomy does not always lead to semen improvement and male fertility recovery. OBJECTIVES: Analysis of total progressive motile sperm count (TPMSC) predictive role in fertility recovery of subfertile man after varicocelectomy in combination with other predictors. MATERIALS AND METHODS: This prospective, open, multi-center study comprises 93 men from infertile couples with clinical varicocele who underwent microsurgical (inguinal or subinguinal) varicocelectomy. The changes in the standard semen analysis studied according to WHO 2010 Standards. We also evaluated spontaneous pregnancy rates. A discriminant analysis was carried out with step-by-step selection to identify reliable predictors of pregnancy after varicocelectomy. An increase in TPMSC by at least 12.5 million was considered as a good effect of varicocele repair (reference values for the number and progressive sperm motility according to WHO 2010: 39 million x 0.32 (32%) progressively motile). Patients were divided into 3 groups in regards of direction and degree of semen changes: group I included 48 patients with increase of TPMSC more or equal 12.5 million, group II comprised 20 patients with mild increase in TPMSC (0.1 - 12.5 million) and the III group comprised patients without any effect (TPMSC did not change, or became less than preoperative one) after varicocelectomy. The initial clinical characteristics of patients in the groups were compared. RESULTS: A significant effect was observed in 52% of cases (n=48), a mild favorable effect in 21% (n=20), and no effect in 27% (n=25). Spontaneous pregnancy rates (in 1 year after varicocele repair) were higher in patients of group I than that of groups II and III: 46%, 10% and 12%, respectively (p<0.05). The initial clinical characteristics between groups were comparable (p>0.05). In group I, the initial semen analysis parameters were significantly better than in group II and worse than in group III: the median and 25% -75% of the quartiles for TPMSC were 15 (1-44), 0 (0-8) and 54 (19-100) million, respectively (for all p<0.001). According to discriminant analysis significant predictors of pregnancy after varicocelectomy were an increase of TPMSC, male age and the initial total sperm motility. The predictive accuracy of the prognostic model with these three predictors was 84%, specificity was 87%, and sensitivity was 76%. CONCLUSIONS: The odds of fertility recovery after varicocelectomy has a U-shaped relationship: it is higher in patients with moderate semen quality impairment and it decreases in patients with initially low, and, conversely, high sperm count and motility. An increase in TPMSC by 12.5 million or more is a highly significant indicator of fertility recovery, because in this case the odds of spontaneous pregnancy can reach 50%. Predictors of fertility recovery after varicocelectomy are an increase of TPMSC, male age and the preoperative total motility.


Assuntos
Infertilidade Masculina , Varicocele , Feminino , Fertilidade , Humanos , Infertilidade Masculina/etiologia , Infertilidade Masculina/cirurgia , Masculino , Gravidez , Estudos Prospectivos , Análise do Sêmen , Contagem de Espermatozoides , Motilidade Espermática , Varicocele/cirurgia
3.
Gynecol Obstet Invest ; 86(4): 398-407, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34515132

RESUMO

OBJECTIVES: The aim of this study was to analyze the fertility outcome in intracytoplasmic sperm injection (ICSI)-treated women across normal range thyroid-stimulating hormone (TSH) levels. Published results are inconclusive about optimal TSH levels and fertility. DESIGN: This is a retrospective cohort study in 752 ICSI-treated women with predominantly severe male factor subfertility, starting treatment between the first of January 2008 and the first of March 2012 with a follow-up until 2014. Participants/Materials, Setting, Methods: Women aged 22-45 years with TSH 0.3-4.5 mIU/L without thyroid hormone substitution were included in Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands, an iodine-sufficient area. Demographic and baseline characteristics were compared between groups of patients based on TSH, using one-way ANOVA, Kruskal-Wallis ANOVA, and χ2 test. The patient was the unit of analysis: all cumulative cycles per patient were analyzed up to and including the first ongoing pregnancy. The primary outcome was a cumulative live birth rate. Clinical pregnancy rate, pregnancy loss, and ongoing pregnancy rate were secondary outcomes. The χ2 test and logistic regression were used to compare interquartile groups while adjusting for confounders. Logistic regression was used with the natural logarithm of TSH as a continuous predictor. Primary and secondary subfertile women were analyzed separately. RESULTS: Analysis of the total cohort (n = 752) showed no difference in fertility outcomes across the normal TSH range. The cumulative live birth rate for the 4 groups of primary subfertile women (n = 455) was 76% in the upper TSH quartile compared to 56%, 60%, and 59% in the lower TSH quartiles. LIMITATIONS: Levels of thyroxine and presence of thyroid autoimmunity were not measured in this retrospective cohort study. CONCLUSIONS: The observation that a higher live birth rate was found in primary subfertile ICSI-treated women with high but allegedly normal TSH levels contributes to the hypothesis that in certain subfertile women in addition to a male factor, female factors such as subtle hypothyroidism and/or thyroid autoimmunity may play a role in keeping them from conception, which can be overcome by the process of ICSI.


Assuntos
Infertilidade Masculina , Injeções de Esperma Intracitoplásmicas , Feminino , Fertilização In Vitro , Humanos , Nascido Vivo/epidemiologia , Masculino , Gravidez , Taxa de Gravidez , Estudos Retrospectivos , Tireotropina
4.
Medicina (Kaunas) ; 57(9)2021 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-34577786

RESUMO

Background and Objectives: To investigate the effect of infection with human papillomavirus (HPV) or Chlamydia trachomatis (CT) and HPV + CT coinfection on sperm quality, inflammation, and the state of oxidative stress (OS) in asymptomatic infertile men. Materials and Methods: Semen samples from 84 asymptomatic military infertile men were studied. The polymerase chain reaction (PCR) was used for the molecular detection of HPV and CT. Semen parameters were analyzed according to the World Health Organization guidelines. Inflammation was evaluated by an IL-1ß, IL-6, and IFN-γ enzyme-linked immunosorbent assay (ELISA) and OS by the quantification of lipid peroxidation (LPO), 8-hydroxydeoxyguanosine (8-OHdG), and total antioxidant capacity (TAC). Results: A total of 81 of the 84 (96.4%) samples were positives for the pathogens, with 55/81 (68%) being positive for HPV, 11/81 (13.5%) for CT, and 15/81 (18.5%) for HPV + CT coinfection. Seminal parameters were affected in the infected groups, including pH increases above the normal range in all groups. An abnormal sperm morphology was observed in the HPV and HPV + CT groups. Higher cytokine levels were detected in the HPV group and the highest IL-1ß level was found in the HPV + CT group. No cytokines were detected in the CT group. High LPO and 8-OHdG levels were found in all groups with a lower TAC. Comparisons between groups showed the highest OS state was observed in the HPV group. Conclusions: High HPV infection or coinfection (HVP + CT) in these infertile men suggest compromising male fertility by inducing a proinflammatory state and OS. Infection with CT suggests an alteration of the state of OS by promoting an alkaline pH.


Assuntos
Alphapapillomavirus , Coinfecção , Infertilidade Masculina , Infecções por Papillomavirus , Chlamydia trachomatis , Humanos , Masculino , Estresse Oxidativo , Papillomaviridae , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/epidemiologia , Espermatozoides
5.
Proc Natl Acad Sci U S A ; 118(39)2021 09 28.
Artigo em Inglês | MEDLINE | ID: mdl-34556579

RESUMO

Fertilization is the fundamental process that initiates the development of a new individual in all sexually reproducing species. Despite its importance, our understanding of the molecular players that govern mammalian sperm-egg interaction is incomplete, partly because many of the essential factors found in nonmammalian species do not have obvious mammalian homologs. We have recently identified the lymphocyte antigen-6 (Ly6)/urokinase-type plasminogen activator receptor (uPAR) protein Bouncer as an essential fertilization factor in zebrafish [S. Herberg, K. R. Gert, A. Schleiffer, A. Pauli, Science 361, 1029-1033 (2018)]. Here, we show that Bouncer's homolog in mammals, Sperm Acrosome Associated 4 (SPACA4), is also required for efficient fertilization in mice. In contrast to fish, in which Bouncer is expressed specifically in the egg, SPACA4 is expressed exclusively in the sperm. Male knockout mice are severely subfertile, and sperm lacking SPACA4 fail to fertilize wild-type eggs in vitro. Interestingly, removal of the zona pellucida rescues the fertilization defect of Spaca4-deficient sperm in vitro, indicating that SPACA4 is not required for the interaction of sperm and the oolemma but rather of sperm and the zona pellucida. Our work identifies SPACA4 as an important sperm protein necessary for zona pellucida penetration during mammalian fertilization.


Assuntos
Antígenos Ly/metabolismo , Fertilização , Infertilidade Masculina/patologia , Glicoproteínas de Membrana/fisiologia , Receptores de Ativador de Plasminogênio Tipo Uroquinase/metabolismo , Interações Espermatozoide-Óvulo , Acrossomo/metabolismo , Acrossomo/patologia , Animais , Antígenos Ly/genética , Feminino , Infertilidade Masculina/etiologia , Infertilidade Masculina/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Receptores de Ativador de Plasminogênio Tipo Uroquinase/genética , Zona Pelúcida/metabolismo , Zona Pelúcida/patologia
6.
Nat Commun ; 12(1): 5374, 2021 09 10.
Artigo em Inglês | MEDLINE | ID: mdl-34508072

RESUMO

The mosquito Aedes aegypti is the principal vector for arboviruses including dengue/yellow fever, chikungunya, and Zika virus, infecting hundreds of millions of people annually. Unfortunately, traditional control methodologies are insufficient, so innovative control methods are needed. To complement existing measures, here we develop a molecular genetic control system termed precision-guided sterile insect technique (pgSIT) in Aedes aegypti. PgSIT uses a simple CRISPR-based approach to generate flightless females and sterile males that are deployable at any life stage. Supported by mathematical models, we empirically demonstrate that released pgSIT males can compete, suppress, and even eliminate mosquito populations. This platform technology could be used in the field, and adapted to many vectors, for controlling wild populations to curtail disease in a safe, confinable, and reversible manner.


Assuntos
Aedes/virologia , Infertilidade Masculina/veterinária , Controle de Mosquitos/métodos , Mosquitos Vetores/virologia , Aedes/genética , Animais , Animais Geneticamente Modificados , Arbovírus , Febre de Chikungunya/prevenção & controle , Febre de Chikungunya/transmissão , Febre de Chikungunya/virologia , Dengue/prevenção & controle , Dengue/transmissão , Dengue/virologia , Feminino , Humanos , Infertilidade Masculina/genética , Masculino , Modelos Biológicos , Mosquitos Vetores/genética , Febre Amarela/prevenção & controle , Febre Amarela/transmissão , Febre Amarela/virologia , Zika virus , Infecção por Zika virus/prevenção & controle , Infecção por Zika virus/transmissão , Infecção por Zika virus/virologia
7.
Adv Exp Med Biol ; 1288: 161-173, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34453736

RESUMO

Non-obstructive azoospermia (NOA) and obstructive azoospermia (OA) are two common causes of infertility that affect a considerable number of men. However, few studies were performed to understand the molecular etiology of these disorders. Studies based on bioinformatics and genetic analyses in recent years, however, have yielded insightful information and have identified a number of genes that are involved in these disorders. In this review, we briefly summarize and evaluate these findings. We also discuss findings based on epigenetic modifications of sperm DNAs that affect a number of genes pertinent to NOA and OA. The information summarized in this Chapter should be helpful to investigators in future functional studies of NOA and OA.


Assuntos
Azoospermia , Infertilidade Masculina , Azoospermia/genética , Testes Genéticos , Humanos , Infertilidade Masculina/genética , Masculino , Espermatozoides , Testículo
8.
Nat Commun ; 12(1): 4926, 2021 08 13.
Artigo em Inglês | MEDLINE | ID: mdl-34389728

RESUMO

The sperm head-to-tail coupling apparatus (HTCA) ensures sperm head-tail integrity while defective HTCA causes acephalic spermatozoa, rendering males infertile. Here, we show that CENTLEIN is indispensable for HTCA integrity and function, and that inactivation of CENTLEIN in mice leads to sperm decapitation and male sterility. We demonstrate that CENTLEIN directly interacts with both SUN5 and PMFBP1, two proteins localized in the HTCA and related with acephalic spermatozoa syndrome. We find that the absence of Centlein sets SUN5 and PMFBP1 apart, the former close to the sperm head and the latter in the decapitated tail. We show that lack of Sun5 results in CENTLEIN and PMFBP1 left in the decapitated tail, while disruption of Pmfbp1 results in SUN5 and CENTLEIN left on the detached sperm head. These results demonstrate that CENTLEIN cooperating with SUN5 and PMFBP1 participates in the HTCA assembly and integration of sperm head to the tail, indicating that impairments of CENTLEIN might be associated with acephalic spermatozoa syndrome in humans.


Assuntos
Proteínas do Citoesqueleto/metabolismo , Proteínas de Membrana/metabolismo , Cabeça do Espermatozoide/metabolismo , Cauda do Espermatozoide/metabolismo , Espermatozoides/metabolismo , Animais , Proteínas de Ciclo Celular , Células Cultivadas , Proteínas do Citoesqueleto/genética , Células HEK293 , Humanos , Infertilidade Masculina/genética , Infertilidade Masculina/metabolismo , Masculino , Proteínas de Membrana/genética , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA , Camundongos Knockout , Mutação , Ligação Proteica , Espermatozoides/citologia , Teratozoospermia/genética , Teratozoospermia/metabolismo
9.
N Engl J Med ; 385(8): 707-719, 2021 08 19.
Artigo em Inglês | MEDLINE | ID: mdl-34347949

RESUMO

BACKGROUND: P-element-induced wimpy testis (PIWI)-interacting RNAs (piRNAs) are short (21 to 35 nucleotides in length) and noncoding and are found almost exclusively in germ cells, where they regulate aberrant expression of transposable elements and postmeiotic gene expression. Critical to the processing of piRNAs is the protein poly(A)-specific RNase-like domain containing 1 (PNLDC1), which trims their 3' ends and, when disrupted in mice, causes azoospermia and male infertility. METHODS: We performed exome sequencing on DNA samples from 924 men who had received a diagnosis of nonobstructive azoospermia. Testicular-biopsy samples were analyzed by means of histologic and immunohistochemical tests, in situ hybridization, reverse-transcriptase-quantitative-polymerase-chain-reaction assay, and small-RNA sequencing. RESULTS: Four unrelated men of Middle Eastern descent who had nonobstructive azoospermia were found to carry mutations in PNLDC1: the first patient had a biallelic stop-gain mutation, p.R452Ter (rs200629089; minor allele frequency, 0.00004); the second, a novel biallelic missense variant, p.P84S; the third, two compound heterozygous mutations consisting of p.M259T (rs141903829; minor allele frequency, 0.0007) and p.L35PfsTer3 (rs754159168; minor allele frequency, 0.00004); and the fourth, a novel biallelic canonical splice acceptor site variant, c.607-2A→T. Testicular histologic findings consistently showed error-prone meiosis and spermatogenic arrest with round spermatids of type Sa as the most advanced population of germ cells. Gene and protein expression of PNLDC1, as well as the piRNA-processing proteins PIWIL1, PIWIL4, MYBL1, and TDRKH, were greatly diminished in cells of the testes. Furthermore, the length distribution of piRNAs and the number of pachytene piRNAs was significantly altered in men carrying PNLDC1 mutations. CONCLUSIONS: Our results suggest a direct mechanistic effect of faulty piRNA processing on meiosis and spermatogenesis in men, ultimately leading to male infertility. (Funded by Innovation Fund Denmark and others.).


Assuntos
Azoospermia/genética , Exorribonucleases/genética , Infertilidade Masculina/genética , Meiose/fisiologia , Mutação , RNA Interferente Pequeno/metabolismo , Testículo/patologia , Adulto , Azoospermia/fisiopatologia , Biópsia , Expressão Gênica , Humanos , Masculino , Fenótipo , Reação em Cadeia da Polimerase , RNA Interferente Pequeno/ultraestrutura , Análise de Sequência de RNA , Testículo/metabolismo , Sequenciamento Completo do Exoma
10.
Medicine (Baltimore) ; 100(29): e26577, 2021 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-34398012

RESUMO

ABSTRACT: Estradiol regulates spermatogenesis partly via estrogen receptor-alpha (ESRα). This study aimed to analyze the associations of serum estradiol level, serum ESRα level, and ESRα gene polymorphisms with sperm quality.This retrospective study included infertile men attending the Reproductive Center, Affiliated Hospital of Youjiang Medical University for Nationalities, and a control group without a history of fertility (October, 2016 to March, 2017). Data regarding sperm quality, serum levels of estradiol and ESRα, and rs2234693C/T genotype were extracted from the medical records. Pearson/Spearman correlations (as appropriate) between estradiol level, ESRα level, and sperm quality parameters were evaluated.The analysis included 215 men with infertility and 83 healthy controls. The infertile group had higher serum levels of estradiol (147.57 ±â€Š35.3 vs 129.62 ±â€Š49.11 pg/mL, P < .05) and ESRα (3.02 ±â€Š2.62 vs 1.33 ±â€Š0.56 pg/mL, P < .05) than the control group. For the infertile group, serum estradiol level was negatively correlated with sperm concentration, percentage of progressively motile sperm, and percentage of sperm with normal morphology (r = 0.309, 0.211, and 0.246, respectively; all P < .05). Serum estradiol and ESRα levels were lower in infertile men with normozoospermia than in those with azoospermia, oligozoospermia, mild azoospermia, or malformed spermatozoa (all P < .05). Sperm concentration, percentage of progressively motile sperm, serum ESRα level, and serum estradiol level did not differ significantly among the rs2234693 CC, CT, and TT genotypes.Elevated serum levels of estradiol and possibly ESRα might have a negative impact on sperm quality and fertility, whereas single nucleotide polymorphisms at rs2234693 of the ESRα gene had little or no effect.


Assuntos
Estradiol/análise , Receptor alfa de Estrogênio/análise , Infertilidade Masculina/sangue , Adulto , China , Estradiol/sangue , Receptor alfa de Estrogênio/sangue , Humanos , Infertilidade Masculina/genética , Masculino , Polimorfismo Genético/genética , Serviços de Saúde Reprodutiva/organização & administração , Serviços de Saúde Reprodutiva/estatística & dados numéricos , Estudos Retrospectivos , Análise do Sêmen/métodos , Contagem de Espermatozoides/métodos , Estatísticas não Paramétricas
11.
Beijing Da Xue Xue Bao Yi Xue Ban ; 53(4): 785-788, 2021 Aug 18.
Artigo em Chinês | MEDLINE | ID: mdl-34393245

RESUMO

OBJECTIVE: To investigate the value of clinical application of simultaneous amplification and testing of RNA (SAT-RNA) for detecting Chlamydia trachomatis (CT) and Ureaplasma urealyticum (UU) by comparing with the polymerase chain reaction testing of DNA (PCR-DNA) method. METHODS: Specimens from both urethra swab and the first avoid urine which should be at least one hour after the previous urination were collected from 163 men who were scheduled for in vitro fertilization and embryo transfer (IVF-ET) treatment due to female factors at Center for Reproductive Medicine, Shengjing Hospital of China Medical University during the period of April 2016 to April 2017. Among the 163 men, 109 simultaneously provided semen that was collected after 3-7 days of sexual abstinence for the testing. Urine and semen specimens were detected for CT and UU with SAT-RNA, while urethra swab specimens were detected for CT and UU with standard PCR-DNA. Detection results of the SAT-RNA were compared with those of the PCR-DNA method. RESULTS: The positive rate of UU in the urethra swab detected with PCR-DNA and that of UU in the urine with SAT-RNA were 47.24% and 47.85%, respectively, and the coincidence rate was 93.25%. In addition, the positive and negative coincidence rates were 93.51% and 93.02%, respectively, and the concordance between the two methods was very good (Kappa=0.865). On the other hand, the positive rate of CT in the swab specimen tested with PCR-DNA was 3.07% and that of CT in urine with SAT-RNA was 4.29%, and the coincidence rate was 97.55%. Moreover, the positive and negative coincidence rates were 80.00% and 98.10%, respectively, and the concordance between the two methods was good (Kappa=0.654). Regarding SAT-RNA detection of UU in the urine and semen specimen of the 109 patients, the positive rates of UU in the urine and semen specimens were 50.46% and 44.95%, respectively; and the coincidence rate between the two specimens was 88.99%. In addition, the positive coincidence rate and the negative coincidence rate was 93.88% and 85.00%, respectively, and the concordance between the two specimens was good (Kappa=0.780). Similarly, SAT-RNA detection of CT in the urine and semen specimens showed the positive rate was 5.50% and 3.67%, respectively; and the two specimens showed 98.17% coincidence rate. The positive and negative coincidence rates were 100.00% and 98.10%, respectively, and the concordance was also good (Kappa=0.791). CONCLUSION: SAT-RNA detection of CT and UU in the urine specimen showed good concordance with the PCR-DNA detection of CT and UU in the urethra swab specimen. In addition, the concordance was also good between the urine and semen specimens detected with SAT-RNA. These results indicate that, as a less invasive and equally accurate procedure, SAT-RNA may be more suitable for clinical application.


Assuntos
Infecções por Chlamydia , Infertilidade Masculina , Infecções por Chlamydia/diagnóstico , Infecções por Chlamydia/epidemiologia , Chlamydia trachomatis/genética , Feminino , Humanos , Masculino , Neisseria gonorrhoeae/genética , Reação em Cadeia da Polimerase , Ureaplasma urealyticum/genética
12.
Beijing Da Xue Xue Bao Yi Xue Ban ; 53(4): 803-807, 2021 Aug 18.
Artigo em Chinês | MEDLINE | ID: mdl-34393249

RESUMO

To explore the genetic causes of 3 male infertility patients with acephalospermia and the outcome of assisted reproductive technology. Clinical diagnosis, sperm morphology examination, sperm transmission electron microscopy examination were performed on 3 patients, and the whole exome sequencing technology was used for screening, Sanger sequencing verification, mutation pathogenicity analysis, and protein sequence homology comparison. Assisted reproductive technology was implemented to assist pregnancy treatment. The 3 patients were all sporadic infertile men, aged 25, 42 and 26 years, and there was no obvious abnormality in the general physical examination. Male external genitalia developed normally, bilateral testicles were normal in volume, and bilateral epididymis and spermatic vein were palpated without nodules, cysts, and tenderness. Repeated semen analysis showed that a large number of immature sperm could be seen, and they had the ability to move. The SUN5 gene of the 3 male infertile patients was a case of homozygous missense mutation c.7C>T (p.Arg3Trp), a case of compound heterozygous missense mutation c.1067G>A (p.Arg356His) and nonsense mutation c.216G>A (p.Trp72*) and a case of homozygous missense mutation c.1043A>T (p.Asn348Ile), of which c.7C>T (p.Arg3Trp) and c.1067G>A (p.Arg356His) were new variants that had not been reported. SIFT, Mutation Taster and PolyPhen-2 software function prediction results were all harmful, the nonsense mutation c.216G>A (p.Trp72*) led to the premature termination of peptide chain synthesis which might have a greater impact on protein function. The homology regions in the protein sequence homology alignment were all highly conserved.The 3 male patients and their spouses obtained 4 biological offspring through intracytoplasmic sperm injection, all of which were boys, and one of them was a twin.Three male infertile patients might be caused by SUN5 gene mutations. Such patients could obtain their biological offspring through assisted reproductive technology. It was still necessary to pay attention to the genetic risk of ASS, it was recommended that both men and women conduct genetic counseling and screening at the same time. In clinical diagnosis, whole exome sequencing technology could be used to perform auxiliary examinations to determine the treatment plan and assisted reproductive methods as soon as possible to reduce the burden on the family and society. The newly discovered mutation sites of SUN5 gene provided clues and directions for elucidating the pathogenic mechanism, and at the same time expanded the pathogenic mutation spectrum of ASS.


Assuntos
Infertilidade Masculina , Proteínas de Membrana , Feminino , Humanos , Infertilidade Masculina/genética , Masculino , Proteínas de Membrana/genética , Mutação , Gravidez , Injeções de Esperma Intracitoplásmicas , Espermatozoides
13.
Int J Clin Pract ; 75(10): e14702, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34378266

RESUMO

AIMS: This study aimed to find out the potential role of Chlamydia trachomatis (C. trachomatis) in male primary infertility and to recommend an easy, rapid, and sensitive diagnostic tool for its detection. METHODS: Semen samples were collected from male patients who presented with primary infertility and from age-matched healthy controls. These samples were analysed according to the World Health Organization guidelines. Infection with C. trachomatis in those patients and controls was detected by two methods; assay of anti-chlamydia IgA antibodies level in seminal plasma and detection C. trachomatis deoxyribonucleic acid (DNA) by real-time polymerase chain reaction (RT-PCR) technology. RESULTS: Positive detection of anti-Chlamydia IgA antibody was found in 28 (14%) patients and in 6 (9.2%) controls. Positive detection of C. trachomatis-cryptic plasmid gene was found in 15 (7.5%) patients and in zero of controls. Detection of anti-chlamydia IgA by enzyme-linked immunosorbent assay (ELISA) has a sensitivity of 100% and specificity of 92.97%. There were significant associations between C. trachomatis infection and asthenozoospermia (P = .05), and abnormal vitality (P = .003). CONCLUSION: C. trachomatis infection adversely affects the fertility potential in males because of its effect on the motility and vitality of sperms. We can rely on the detection of anti-chlamydia IgA antibodies in seminal plasma as a rapid sensitive diagnostic test for the detection of C. trachomatis infection.


Assuntos
Infecções por Chlamydia , Infertilidade Masculina , Infecções por Chlamydia/diagnóstico , Chlamydia trachomatis , Ensaio de Imunoadsorção Enzimática , Humanos , Infertilidade Masculina/diagnóstico , Masculino , Sêmen
14.
Front Immunol ; 12: 658432, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34367130

RESUMO

The physiological process of male reproduction relies on the orchestration of neuroendocrine, immune, and energy metabolism. Spermatogenesis is controlled by the hypothalamic-pituitary-testicular (HPT) axis, which modulates the production of gonadal steroid hormones in the testes. The immune cells and cytokines in testes provide a protective microenvironment for the development and maturation of germ cells. The metabolic cellular responses and processes in testes provide energy production and biosynthetic precursors to regulate germ cell development and control testicular immunity and inflammation. The metabolism of immune cells is crucial for both inflammatory and anti-inflammatory responses, which supposes to affect the spermatogenesis in testes. In this review, the role of immunometabolism in male reproduction will be highlighted. Obesity, metabolic dysfunction, such as type 2 diabetes mellitus, are well documented to impact male fertility; thus, their impacts on the immune cells distributed in testes will also be discussed. Finally, the potential significance of the medicine targeting the specific metabolic intermediates or immune metabolism checkpoints to improve male reproduction will also be reassessed.


Assuntos
Metabolismo Energético , Imunomodulação , Reprodução/fisiologia , Animais , Gerenciamento Clínico , Suscetibilidade a Doenças , Retroalimentação Fisiológica , Hormônios Esteroides Gonadais/metabolismo , Hormônio Liberador de Gonadotropina/metabolismo , Humanos , Sistema Hipotálamo-Hipofisário/imunologia , Sistema Hipotálamo-Hipofisário/metabolismo , Sistema Imunitário/imunologia , Sistema Imunitário/metabolismo , Infertilidade Masculina/etiologia , Infertilidade Masculina/metabolismo , Infertilidade Masculina/terapia , Masculino , Testículo/imunologia , Testículo/metabolismo
15.
Toxicol Lett ; 351: 28-36, 2021 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-34411681

RESUMO

Chlorocholine chloride (CCC) promote plant growth as a regulator. Emerging evidence by our group showed that CCC might restrain the puberty onset and impair the reproductive functions in male rats through HPT axis. In this study, we further investigated the effects of prenatal CCC exposure on pubertal development, reproduction of male offspring in rats and explored the underlying mechanisms. The results showed that CCC of 137.5 and 200 mg/kg bw/day delayed the age of preputial separation (PPS), decreased the sperm motility of male offspring. PP1γ2 which is an essential protein in spermatogenesis reduced in 137.5 and 200 mg/kg bw/day groups. Crucial hormones involved in hypothalamic-puititary-testicular (HPT) axis decreased at postnatal day (PND) 30. It was indicated that CCC exposure in pregnancy might disturb the pubertal development, reproductive functions of male offspring through HPT axis and disturb the sperm motility through PP1γ2.


Assuntos
Clormequat/toxicidade , Infertilidade Masculina/induzido quimicamente , Reguladores de Crescimento de Plantas/toxicidade , Efeitos Tardios da Exposição Pré-Natal , Maturidade Sexual/efeitos dos fármacos , Animais , Feminino , Masculino , Gravidez , Ratos , Análise do Sêmen , Motilidade Espermática/efeitos dos fármacos
16.
Andrologia ; 53(10): e14204, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34369610

RESUMO

Telomere length is considered one of the most relevant biological markers of genomic stability since it protects DNA from impairment and also ensures chromosome alignment during DNA replication. The negative impact of telomere shortening on sperm quality has been suggested as an important indicator of male infertility. Therefore, we aimed to assess leucocyte and sperm telomere length (LTL&STL), as well as sperm parameters, DNA damage and protamine deficiency in men with oligozoospermia as compared to fertile men. Our results demonstrated a significant reduction in sperm parameters (concentration, motility, morphology), LTL & STL and a significant increase in sperm DNA damage and protamine deficiency in oligozoospermic men compared with fertile individuals. These outcomes revealed that low sperm concentration in men is possibly a sign of impaired meiotic and/or meiotic division during the spermatogenesis process. It is not only associated with proper chromatin packaging but also with telomere length as a key player in the process of mitosis and meiosis, assisting in chromosomal alignment, pairing, synapsis and crossing over during spermatogenesis.


Assuntos
Infertilidade Masculina , Telômero , Humanos , Infertilidade Masculina/genética , Leucócitos , Masculino , Contagem de Espermatozoides , Espermatozoides , Telômero/genética
17.
Fertil Steril ; 116(3): 609-610, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34462094

RESUMO

Many medical and surgical treatments result in impaired male fertility. Sometimes impairments are permanent, while other times they may be reversible. Clinicians who treat urologic and nonurologic problems, as well as those of us who treat male and female infertility should understand what treatments affect which aspects of reproduction and what options for management are available. Conditions for which treatment may impair fertility range from benign prostatic hyperplasia to cancer to behavioral health issues. This month's Views and Reviews summarizes these conditions, the mechanisms of fertility impairment as well as preemptive and posttreatment approaches for management.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/etiologia , Fertilidade/efeitos dos fármacos , Doença Iatrogênica , Infertilidade Masculina/etiologia , Complicações Pós-Operatórias/etiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/fisiopatologia , Humanos , Infertilidade Masculina/induzido quimicamente , Infertilidade Masculina/fisiopatologia , Masculino , Complicações Pós-Operatórias/fisiopatologia , Fatores de Risco
18.
Fertil Steril ; 116(3): 611-617, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34462095

RESUMO

Ejaculatory dysfunction is not only psychologically distressing but can become a significant obstacle for men who wish to conceive. Dysfunction comes in the form of anejaculation, reduced ejaculation, retrograde ejaculation, painful ejaculation, or premature ejaculation. Most treatments for lower urinary tract symptoms related to benign prostatic hyperplasia, which commonly occurs in aging men, carry significant risks of absent, reduced, or retrograde ejaculation. This review focuses on such risks that accompany both the medical and surgical management of lower urinary tract symptoms/benign prostatic hyperplasia and how these risks impact male fertility.


Assuntos
Inibidores de 5-alfa Redutase/efeitos adversos , Antagonistas Adrenérgicos alfa/efeitos adversos , Ejaculação/efeitos dos fármacos , Infertilidade Masculina/induzido quimicamente , Sintomas do Trato Urinário Inferior/terapia , Ejaculação Precoce/induzido quimicamente , Prostatectomia/efeitos adversos , Hiperplasia Prostática/terapia , Fertilidade/efeitos dos fármacos , Humanos , Infertilidade Masculina/fisiopatologia , Infertilidade Masculina/terapia , Masculino , Ejaculação Precoce/fisiopatologia , Ejaculação Precoce/terapia , Recuperação de Função Fisiológica , Fatores de Risco , Resultado do Tratamento
19.
Fertil Steril ; 116(3): 618-624, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34462096

RESUMO

Primum non nocere. As physicians, our goal is to treat illnesses and alleviate suffering; however, in doing so, we can generate new problems in a game of medical whack-a-mole. For some patients, certain consequences or side effects are tolerable, while others may believe they have no alternative. For a male patient with infertility, a thorough history is imperative to elucidate whether the patient has been or is currently being exposed to medications that will harm libido, spermatogenesis, ejaculation, or the hypothalamic-pituitary-testosterone axis. This article will review the most common medications causing iatrogenic male infertility as well as options to minimize or even reverse their impact.


Assuntos
Inibidores de 5-alfa Redutase/efeitos adversos , Analgésicos Opioides/efeitos adversos , Antagonistas de Androgênios/efeitos adversos , Antineoplásicos/efeitos adversos , Fertilidade/efeitos dos fármacos , Infertilidade Masculina/induzido quimicamente , Antagonistas da Serotonina/efeitos adversos , Testosterona/efeitos adversos , Animais , Humanos , Infertilidade Masculina/fisiopatologia , Infertilidade Masculina/terapia , Masculino , Radioterapia/efeitos adversos , Fatores de Risco
20.
Fertil Steril ; 116(3): 625-629, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34462097

RESUMO

Iatrogenic causes of male infertility can include medications, chemotherapy, radiation, and surgery. In this review, we discuss commonly performed urologic cancer surgeries and nonurologic surgeries that harbor a high risk of iatrogenic infertility. These include radical prostatectomy, radical cystectomy, retroperitoneal lymph node dissection, pelvic colon surgery, and anterior spine surgery. In addition, we review the anatomy and surgical strategies that help to reduce the risks of infertility. With an increase in life expectancy and improvements in fertility preservation, it is important to properly counsel patients about the risks of infertility and provide options for fertility preservation before surgery.


Assuntos
Colectomia/efeitos adversos , Cistectomia/efeitos adversos , Doença Iatrogênica , Infertilidade Masculina/etiologia , Excisão de Linfonodo/efeitos adversos , Neoplasias/cirurgia , Procedimentos Ortopédicos/efeitos adversos , Prostatectomia/efeitos adversos , Azoospermia/etiologia , Azoospermia/fisiopatologia , Azoospermia/terapia , Ejaculação , Fertilidade , Preservação da Fertilidade , Humanos , Infertilidade Masculina/fisiopatologia , Infertilidade Masculina/terapia , Vértebras Lombares/cirurgia , Masculino , Fatores de Risco
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