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1.
J Med Genet ; 61(6): 553-565, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38341271

RESUMO

BACKGROUND: The association between the TDRD6 variants and human infertility remains unclear, as only one homozygous missense variant of TDRD6 was found to be associated with oligoasthenoteratozoospermia (OAT). METHODS: Whole-exome sequencing and Sanger sequencing were employed to identify potential pathogenic variants of TDRD6 in infertile men. Histology, immunofluorescence, immunoblotting and ultrastructural analyses were conducted to clarify the structural and functional abnormalities of sperm in mutated patients. Tdrd6-knockout mice were generated using the CRISPR-Cas9 system. Total RNA-seq and single-cell RNA-seq (scRNA-seq) analyses were used to elucidate the underlying molecular mechanisms, followed by validation through quantitative RT-PCR and immunostaining. Intracytoplasmic sperm injection (ICSI) was also used to assess the efficacy of clinical treatment. RESULTS: Bi-allelic TDRD6 variants were identified in five unrelated Chinese individuals with OAT, including homozygous loss-of-function variants in two consanguineous families. Notably, besides reduced concentrations and impaired motility, a significant occurrence of acrosomal hypoplasia was detected in multiple spermatozoa among five patients. Using the Tdrd6-deficient mice, we further elucidate the pivotal role of TDRD6 in spermiogenesis and acrosome identified. In addition, the mislocalisation of crucial chromatoid body components DDX4 (MVH) and UPF1 was also observed in round spermatids from patients harbouring TDRD6 variants. ScRNA-seq analysis of germ cells from a patient with TDRD6 variants revealed that TDRD6 regulates mRNA metabolism processes involved in spermatid differentiation and cytoplasmic translation. CONCLUSION: Our findings strongly suggest that TDRD6 plays a conserved role in spermiogenesis and confirms the causal relationship between TDRD6 variants and human OAT. Additionally, this study highlights the unfavourable ICSI outcomes in individuals with bi-allelic TDRD6 variants, providing insights for potential clinical treatment strategies.


Assuntos
Alelos , Astenozoospermia , Sequenciamento do Exoma , Camundongos Knockout , Espermatogênese , Adulto , Animais , Humanos , Masculino , Camundongos , Acrossomo/patologia , Astenozoospermia/genética , Astenozoospermia/patologia , Infertilidade Masculina/genética , Infertilidade Masculina/patologia , Oligospermia/genética , Oligospermia/patologia , Linhagem , Injeções de Esperma Intracitoplásmicas , Espermatogênese/genética , Espermatozoides/patologia , Espermatozoides/metabolismo
2.
Curr Issues Mol Biol ; 46(2): 1567-1578, 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38392219

RESUMO

The well-documented relationship between chronological age and the sperm methylome has allowed for the construction of epigenetic clocks that estimate the biological age of sperm based on DNA methylation, which we previously termed sperm epigenetic age (SEA). Our lab demonstrated that SEA is positively associated with the time taken to achieve pregnancy; however, its relationship with semen parameters is unknown. A total of 379 men from the Longitudinal Investigation of Fertility and Environment (LIFE) study, a non-clinical cohort, and 192 men seeking fertility treatment from the Sperm Environmental Epigenetics and Development Study (SEEDS) were included in the study. Semen analyses were conducted for both cohorts, and SEA was previously generated using a machine learning algorithm and DNA methylation array data. Association analyses were conducted via multivariable linear regression models adjusting for BMI and smoking status. We found that SEA was not associated with standard semen characteristics in SEEDS and LIFE cohorts. However, SEA was significantly associated with higher sperm head length and perimeter, the presence of pyriform and tapered sperm, and lower sperm elongation factor in the LIFE study (p < 0.05). Based on our results, SEA is mostly associated with defects in sperm head morphological factors that are less commonly evaluated during male infertility assessments. SEA shows promise to be an independent biomarker of sperm quality to assess male fecundity.

3.
J Gene Med ; 26(1): e3583, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37640479

RESUMO

BACKGROUND: Although defects in sperm morphology and physiology lead to male infertility, in many instances, the exact disruption of molecular pathways in a given patient is often unknown. The glycolytic pathway is an essential process to supply energy in sperm cell motility. Enolase 4 (ENO4) is crucial for the glycolytic process, which provides the energy for sperm cells in motility. ENO4 is located in the sperm principal piece and is essential for the motility and organization of the sperm flagellum. In the present study, we characterized a family with asthenozoospermia and abnormal sperm morphology as a result of a variant in the enolase 4 (ENO4) gene. METHODS: Computer-assisted semen analysis, papanicolaou smear staining and scanning electron microscopy were used to examine sperm motility and morphology for semen analysis in patients. For genetic analysis, whole-exome sequencing followed by Sanger sequencing was performed. RESULTS: Two brothers in a consanguineous family were being clinically investigated for sperm motility and morphology issues. Genetic analysis by whole-exome sequencing revealed a homozygous variant [c.293A>G, p.(Lys98Arg)] in the ENO4 gene that segregated with infertility in the family, shared by affected but not controls. CONCLUSIONS: In view of the association of asthenozoospermia and abnormal sperm morphology in Eno4 knockout mice, we consider this to be the first report describing the involvement of ENO4 gene in human male infertility. We also explore the possible involvement of another variant in explaining other phenotypic features in this family.


Assuntos
Astenozoospermia , Infertilidade Masculina , Camundongos , Animais , Humanos , Masculino , Astenozoospermia/genética , Astenozoospermia/metabolismo , Sêmen/metabolismo , Motilidade dos Espermatozoides/genética , Espermatozoides/fisiologia , Infertilidade Masculina/genética , Infertilidade Masculina/metabolismo , Camundongos Knockout , Fosfopiruvato Hidratase/genética , Fosfopiruvato Hidratase/metabolismo
4.
J Urol ; : 101097JU0000000000004185, 2024 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-39093876

RESUMO

PURPOSE: The American Urological Association recommends post-vasectomy semen analysis (PVSA) to verify successful vasectomy. However there remains poor patient compliance. We sought to assess whether mail-in PVSA improves patient compliance across a wide range of practice types. MATERIALS AND METHODS: Prospective data was collected on all men who received a Fellow PVSA kit between April 2021 and August 2023 in a nationwide cohort. Date of kit activation, practice type, clinic zip code, and date of kit accession/processing at the lab was collected. Compliance rates for each practice area were reported. Chi-squared tests of independence, logistic regression models and multivariable logistic analysis were performed to assess the impact of relevant variables. RESULTS: Overall compliance across all practice areas was 69% following an 18-week period of observation (n = 16,105) and 82% (n = 6687) following a 40-week period. Compliance rates were highest and similar for small urology practices (<5 providers), including Veterans Affairs (VA) practices, ranging from 76% to 82% at 18 weeks to 85% to 87% at 40 weeks. Large urology practices had slightly lower compliance rates with 66% at 18 weeks to 80% at 40 weeks. The univariable logistic regression model demonstrated that small urology practices have a 63% greater odds of 26-week compliance, on average, compared to those who receive care in large urology practices (OR 1.63; 95% CI: [1.48-1.79]). CONCLUSIONS: Fellow's mail-in PVSA offers improved PVSA compliance over previously published data. Improved compliance is seen across all practice types. Despite these successes, there is significant room for improvement to achieve 100% compliance.

5.
Clin Endocrinol (Oxf) ; 101(2): 153-161, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38979907

RESUMO

OBJECTIVES: To investigate the distribution of sperm DNA fragmentation (SDF) values and their association with clinical and seminal parameters in idiopathic infertile men. DESIGN, PATIENTS, MEASUREMENTS: Data from 3224 primary infertile men (belonging to couples having failed to conceive a pregnancy within 12 months) who underwent a thorough diagnostic work-up were analysed. A SDF value ≥ 30% (according to Sperm Chromatin Structure Assay) was considered pathologic. We excluded: (1) men with genetic abnormalities; (2) men with history of cryptorchidism; (3) men with biochemical hypogonadism; (4) men with clinical varicocele; and (5) men with other possible known aetiological factors. Descriptive statistics and logistic regression analyses were used to describe the whole cohort. RESULTS: Of all, 792 (23%) men with at least one abnormal WHO semen parameter but without any identified aetiologic factor for infertility, were considered as idiopathic infertile men. Of 792, 418 (52.7%) men had SDF ≥30%. Men with pathologic SDF were older (p = .02), had higher Follicle-stimulating hormone (FSH) (p = .04) but lower total testosterone (p = .03) values than those with SDF <30%. The homoeostatic model assessment index for insulin resistance (HOMA-IR) was higher in men with SDF ≥30% (p = .01). Idiopathic infertile men with SDF ≥30% presented with lower sperm concentration (p < .001) and lower progressive sperm motility (p < .01) than those with SDF < 30%. Logistic regression analysis revealed that older age (OR: 1.1, p = .02) and higher HOMA-IR score (OR: 1.8, p = .03) were associated with SDF ≥ 30%, after accounting for FSH and sperm concentration values. CONCLUSIONS: Approximately half of infertile men categorized as idiopathic had pathologic SDF values. Idiopathic infertile men with pathologic SDF showed worse clinical, hormonal and semen parameters than those with normal SDF values. These results suggest that including SDF testing could be clinically relevant over the real-life management work-up of infertile men.


Assuntos
Fragmentação do DNA , Hormônio Foliculoestimulante , Infertilidade Masculina , Espermatozoides , Humanos , Masculino , Infertilidade Masculina/genética , Infertilidade Masculina/patologia , Adulto , Espermatozoides/patologia , Espermatozoides/metabolismo , Hormônio Foliculoestimulante/sangue , Testosterona/sangue , Análise do Sêmen , Pessoa de Meia-Idade , Resistência à Insulina
6.
Hum Reprod ; 39(8): 1618-1627, 2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-38834185

RESUMO

STUDY QUESTION: Has there been variation in semen quality among men applying to be sperm donors (i.e. donor candidates) in Denmark in recent years (2017-2022)? SUMMARY ANSWER: The motile sperm concentration and total motile sperm count (TMSC) in ejaculates-both measures of sperm quality-declined by as much as 22% from 2019 to 2022. WHAT IS KNOWN ALREADY: Questions remain about whether human semen quality has declined in recent years. Whilst some studies provide evidence for a decline in human semen quality, these findings have been disputed owing to potential biases in the populations studied or in the methods used to measure semen quality. Resolution of this issue has important implications for human fertility, as well as for those involved in the recruitment of sperm donors for use in medically assisted reproduction. STUDY DESIGN, SIZE, DURATION: We obtained data on the semen quality of ejaculates previously collected from 2017 to 2022 at sperm bank locations in four cities in Denmark: Aarhus, Aalborg, Copenhagen, and Odense. Our study focuses on the single semen samples provided by 6758 donor candidates aged between 18 and 45 years old to determine whether their sperm quality met a minimum criterion for them to be accepted as sperm donors. PARTICIPANTS/MATERIALS, SETTING, METHODS: All ejaculates were analyzed within 1 hour of production. Semen volume (ml) was estimated by weight and both the concentration (106/ml) of sperm as well as the concentration of motile sperm (World Health Organization grades a and b) were measured using the same protocols and computer-assisted semen analysis system across all years at each site. Statistical analyses of the semen variables were controlled for age and donation site, as well as the average monthly high temperature when the ejaculate was produced. MAIN RESULTS AND THE ROLE OF CHANCE: From 2017 to 2019, semen volume, sperm concentration, and total sperm count in the ejaculates of donor candidates increased by 2-12%. Then, from 2019 to 2022, sperm concentration and total sperm count changed by 0.1-5% from year to year, but none of those changes were statistically significant. In contrast, both motile sperm concentration and TMSC declined significantly, by 16% and 22%, respectively, between 2019 and 2022. Thus, the concentration of motile sperm in donor candidates declined from 18.4 [95% CL: 17.0, 20.0] million/ml in 2019 to 15.5 [14.4, 16.7] million/ml in 2022, and TMSC declined from 61.4 [55.8, 67.5] million per ejaculate in 2019 to 48.1 [44.1, 52.4] million in 2022. LIMITATIONS, REASONS FOR CAUTION: We cannot determine from the available data the causes of the decline in semen quality of donor candidates from 2019 to 2022. However, as this period coincides with lockdowns and changes in work patterns during the coronavirus disease 2019 pandemic, it is possible that changes in motile sperm concentration and TMSC were the result of changes in the lifestyles of the men whose semen was analyzed. WIDER IMPLICATIONS OF THE FINDINGS: Men providing initial semen samples at sperm banks, when applying to be sperm donors, are a useful population in which to monitor changes in human semen quality over time. Our results have implications for human fertility and the recruitment of sperm donors for medically assisted reproduction, where motile sperm concentration is an essential selection criterion because it influences fertility. We suggest that gathering health and lifestyle data on donor candidates at sperm banks might help to identify causal factors for the decline of sperm quality that could be addressed and intervention, if desired, could be personalized for each accepted donor. STUDY FUNDING/COMPETING INTEREST(S): No external funding was obtained for this study. E.L. and A.-B.S. are employees of Cryos International. AP reports paid consultancy for Cryos International, Cytoswim Ltd, Exceed Health, and Merck Serono in the last 2 years of this study, but all monies were paid to the University of Sheffield (former employer). AP is also an unpaid trustee of the Progress Educational Trust (Charity Number 1139856). RM declares support from Cryos International to present results of this research at ESHRE 2023. None of the authors were directly involved in the collection or physical analysis of semen samples. TRIAL REGISTRATION NUMBER: N/A.


Assuntos
Análise do Sêmen , Bancos de Esperma , Motilidade dos Espermatozoides , Doadores de Tecidos , Humanos , Masculino , Dinamarca , Adulto , Pessoa de Meia-Idade , Contagem de Espermatozoides , Adulto Jovem , Adolescente , Espermatozoides/fisiologia
7.
Cytokine ; 182: 156701, 2024 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-39089215

RESUMO

Among the many factors with a proven relation to semen quality and male fertility, the determination of seminal plasma cytokines provides a promising direction for research into the identification of factors connected with male infertility. The interleukins: IL-1α, -1ß, -2, -4, -6, -8, -10, -12p40, -12p70, -18, IFNγ, and GM-CSF, total oxidant (TOS) and antioxidant (TAS) status, were simultaneously examined in seminal plasmas and blood sera in terato- (n = 32), asthenoterato- (n = 33), and oligoasthenoteratozoospermic (n = 29) infertile men and in normozoospermic fertile men (n = 20). Our research shows different cytokine composition of the sera and seminal plasmas in all studied groups, along with much higher concentrations of seminal plasma GM-CSF, IFNγ, IL-1α, IL-4, IL-6, and IL-8 and lower IL-18 and TOS in the comparison to their sera levels. The seminal plasma concentrations of GM-CSF, IFNγ, IL-1α, -4, and -6 differ significantly between fertile and infertile as well as between teratozoospermic, asthenoteratozoospermic, and oligoasthenoteratozoospermic groups. The indication of the cause of different concentrations of cytokines in seminal plasmas of infertile men, and their associations with semen parameters and oxidative status, may be a promising direction for the search for new therapeutic targets that would directly affect the cells and tissues of male reproductive organs.

8.
Reprod Biol Endocrinol ; 22(1): 59, 2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38778327

RESUMO

BACKGROUND: Deep learning has been increasingly investigated for assisting clinical in vitro fertilization (IVF). The first technical step in many tasks is to visually detect and locate sperm, oocytes, and embryos in images. For clinical deployment of such deep learning models, different clinics use different image acquisition hardware and different sample preprocessing protocols, raising the concern over whether the reported accuracy of a deep learning model by one clinic could be reproduced in another clinic. Here we aim to investigate the effect of each imaging factor on the generalizability of object detection models, using sperm analysis as a pilot example. METHODS: Ablation studies were performed using state-of-the-art models for detecting human sperm to quantitatively assess how model precision (false-positive detection) and recall (missed detection) were affected by imaging magnification, imaging mode, and sample preprocessing protocols. The results led to the hypothesis that the richness of image acquisition conditions in a training dataset deterministically affects model generalizability. The hypothesis was tested by first enriching the training dataset with a wide range of imaging conditions, then validated through internal blind tests on new samples and external multi-center clinical validations. RESULTS: Ablation experiments revealed that removing subsets of data from the training dataset significantly reduced model precision. Removing raw sample images from the training dataset caused the largest drop in model precision, whereas removing 20x images caused the largest drop in model recall. by incorporating different imaging and sample preprocessing conditions into a rich training dataset, the model achieved an intraclass correlation coefficient (ICC) of 0.97 (95% CI: 0.94-0.99) for precision, and an ICC of 0.97 (95% CI: 0.93-0.99) for recall. Multi-center clinical validation showed no significant differences in model precision or recall across different clinics and applications. CONCLUSIONS: The results validated the hypothesis that the richness of data in the training dataset is a key factor impacting model generalizability. These findings highlight the importance of diversity in a training dataset for model evaluation and suggest that future deep learning models in andrology and reproductive medicine should incorporate comprehensive feature sets for enhanced generalizability across clinics.


Assuntos
Aprendizado Profundo , Espermatozoides , Humanos , Projetos Piloto , Masculino , Espermatozoides/fisiologia , Fertilização in vitro/métodos , Processamento de Imagem Assistida por Computador/métodos , Análise do Sêmen/métodos
9.
Reprod Biomed Online ; 48(5): 103777, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38460281

RESUMO

RESEARCH QUESTION: Does the choice of sperm-counting chamber affect the proportion of samples generating results with an erroneous interpretation? DESIGN: Laboratories in an external quality assurance programme were sent 141 semen samples over a 12-year period and asked to return the sperm concentration and whether or not the result was abnormal. Only those using 5th edition of the World Health Organization manual (WHO5) interpretation criteria were included. Submissions from specialist fertility laboratories were used to calculate assigned values for each sample. Laboratory50 values determined the sperm concentration at which the laboratories reported a majority transition from abnormal to normal interpretations, i.e. the tipping point, which should coincide with the lower reference limit. RESULTS: The median and range of bias from the assigned values of each sample were determined for the Makler (-3.3%; -88.6% to +332.8%), haemocytometer (10.6%; -93.3% to +645.5%), Kova (+65.3%; -71.7% to +581.8%) and Vetriplast (+72.4%; -100.0% to +709.1) chambers. Laboratory50 values for the Makler (17.3  ×  106/ml), haemocytometer (13.6  ×  106/ml), Kova (10.0  ×  106/ml) and Vetriplast chambers (8.8  ×  106/ml) reflected the under- and overestimation of the chambers and confirmed a shift in the adjusted lower reference limit then used. The proportion of laboratories reporting erroneous interpretations of the four chambers for oligozoospermic samples were 10.9%, 15.1.%, 40.1% and 44.0%, respectively, and rose as the adjusted lower reference limit decreased. CONCLUSIONS: The between-laboratory and within-sample variation for all the chambers was high and remains a concern. The main impact of an increasing bias of the chambers was a lowering of the laboratory50 tipping point, resulting in an under-reporting of abnormal semen samples.


Assuntos
Análise do Sêmen , Contagem de Espermatozoides , Humanos , Masculino , Contagem de Espermatozoides/instrumentação , Contagem de Espermatozoides/métodos , Análise do Sêmen/métodos , Análise do Sêmen/instrumentação , Análise do Sêmen/normas , Espermatozoides
10.
J Ultrasound Med ; 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38864308

RESUMO

OBJECTIVES: This study aimed to investigate the correlation between testicular shear wave elastography (SWE) values and semen analysis results in men with infertility. METHODS: This was a retrospective case-control study. Patients were categorized as normal, abnormal, or azoospermic based on sperm analysis results. Testicular volume was measured using B-mode ultrasonography using the Lambert formula. Subsequently, 40-80 regions of interest measuring 1.5 × 1.5 mm were manually positioned in both testicles based on their size, and two-dimensional SWE was applied through virtual touch imaging quantification software. RESULTS: The patients had a mean age of 33.79 ± 6.3 years, with semen analysis revealing normal results in 15 patients (22.4%), pathological findings in 35 patients (52.2%), and azoospermia in 17 patients (25.4%). Right, left, total, and mean testicular volumes were significantly lower in patients with azoospermia compared to those in both normal and impaired semen parameters (P < .05). Conversely, testicular elastography scores were higher in patients with azoospermia than in the other groups (P < .05). The significant negative correlation between volume and elastographic findings remained independent of age (r = 0.4, P < .001). The accuracy rates for detecting impaired semen parameters and azoospermia were 94.3% and 94.1%, respectively, after considering factors such as age, testicular volume (right/left/total), and elastography (right/left/total). Notably, the total mean elastography score ranked first, with 100% in the independent normalized importance distribution of these variables. CONCLUSION: SWE can be used effectively alone or in combination with other diagnostic tools to evaluate histopathological changes in the testicles of male patients with infertility.

11.
Reprod Health ; 21(1): 33, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38459587

RESUMO

BACKGROUND: The caesarean section (CS) rate has increased worldwide and there is an increasing public and scientific interest in the potential long-term health consequences for the offspring. CS is related to persistent aberrant microbiota colonization in the offspring, which may negatively interfere with sex hormone homeostasis and thus potentially affect the reproductive health. It remains unknown whether adult sons' semen quality is affected by CS. We hypothesize that CS is associated with lower semen quality. METHODS: This study was based on the Fetal Programming of Semen Quality cohort (FEPOS, enrolled from 2017 to 2019) nested within the Danish National Birth Cohort (DNBC, enrolled from 1996 to 2002). A total of 5697 adult sons of mothers from the DNBC were invited to the FEPOS cohort, and 1044 young men participated in this study. Information on mode of delivery was extracted from the Danish Medical Birth Registry, and included vaginal delivery, elective CS before labor, emergency CS during labor and unspecified CS. The young men provided a semen sample for analysis of semen volume, sperm concentration, motility and morphology. Negative binomial regression models were applied to examine the association between CS and semen characteristics with estimation of relative differences in percentages with 95% confidence intervals (CIs). RESULTS: Among included sons, 132 (13%) were born by CS. We found a slightly lower non-progressive sperm motility (reflecting higher progressive sperm motility) among sons born by CS compared to sons born by vaginal delivery [relative difference (95% CI): - 7.5% (- 14.1% to - 0.4%)]. No differences were observed for other sperm characteristics. When CS was further classified into elective CS, emergency CS and unspecified CS in a sensitivity analysis, no significant differences in non-progressive motility were observed among sons born by any of the three types of CS compared to sons born vaginally. CONCLUSIONS: This large population-based cohort study found no significant evidence for an adverse effect on semen quality in adult sons born by CS.


Caesarean section is one of the most frequently used interventions during childbirth and global cesarean delivery rates continue to increase. The rising cesarean delivery rate has been reported to be related with series of adverse health outcomes in children, such as asthma, allergies, obesity, diabetes and even poor emotional, behavioral and educational outcomes. Still, it remains unknown whether children's reproductive health is affected by this delivery mode.Based on data from the Fetal Programming of Semen Quality cohort (FEPOS,) nested within the Danish National Birth Cohort, we have therefore analyzed the potential effect of caesarean section on son's semen quality in 1044 young men. We found a slightly higher progressive sperm motility among sons born by caesarean section compared to sons born by vaginal delivery. No differences, however, were observed for semen volume, sperm concentration and morphology between the two delivery modes.The FEPOS cohort is the largest population-based male offspring cohort worldwide. This is the first study aiming to examine the association between caesarean section and semen quality in adulthood. Although the findings need to be confirmed in other studies, it is reassuring that this large population-based cohort study finds no significant evidence for an adverse effect on semen quality in adult sons born by caesarean section.


Assuntos
Cesárea , Análise do Sêmen , Adulto , Masculino , Humanos , Gravidez , Feminino , Cesárea/efeitos adversos , Estudos de Coortes , Motilidade dos Espermatozoides , Sêmen , Dinamarca
12.
Sensors (Basel) ; 24(11)2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38894284

RESUMO

Male infertility is a global health issue, with 40-50% attributed to sperm abnormalities. The subjectivity and irreproducibility of existing detection methods pose challenges to sperm assessment, making the design of automated semen analysis algorithms crucial for enhancing the reliability of sperm evaluations. This paper proposes a comprehensive sperm tracking algorithm (Sperm YOLOv8E-TrackEVD) that combines an enhanced YOLOv8 small object detection algorithm (SpermYOLOv8-E) with an improved DeepOCSORT tracking algorithm (SpermTrack-EVD) to detect human sperm in a microscopic field of view and track healthy sperm in a sample in a short period effectively. Firstly, we trained the improved YOLOv8 model on the VISEM-Tracking dataset for accurate sperm detection. To enhance the detection of small sperm objects, we introduced an attention mechanism, added a small object detection layer, and integrated the SPDConv and Detect_DyHead modules. Furthermore, we used a new distance metric method and chose IoU loss calculation. Ultimately, we achieved a 1.3% increase in precision, a 1.4% increase in recall rate, and a 2.0% improvement in mAP@0.5:0.95. We applied SpermYOLOv8-E combined with SpermTrack-EVD for sperm tracking. On the VISEM-Tracking dataset, we achieved 74.303% HOTA and 71.167% MOTA. These results show the effectiveness of the designed Sperm YOLOv8E-TrackEVD approach in sperm tracking scenarios.


Assuntos
Algoritmos , Análise do Sêmen , Espermatozoides , Masculino , Humanos , Espermatozoides/fisiologia , Espermatozoides/citologia , Análise do Sêmen/métodos , Infertilidade Masculina/diagnóstico , Processamento de Imagem Assistida por Computador/métodos
13.
Urologiia ; (1): 143-152, 2024 Mar.
Artigo em Russo | MEDLINE | ID: mdl-38650420

RESUMO

A review of controversial issues about the terminology on male infertility and reproductive function, which is currently used, as well as proposals for updating clinical guidelines for the diagnosis and treatment of male infertility and men in infertile couples are presented in the article. An algorithm is described, the elements of which ensure referral of patients based on the possibility and timing of restoration of reproductive function, taking into account the reproductive health of a woman, as well as increasing the likelihood of successful treatment aimed at the birth of a healthy child.


Assuntos
Infertilidade Masculina , Guias de Prática Clínica como Assunto , Humanos , Masculino , Infertilidade Masculina/terapia , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/etiologia , Feminino , Algoritmos
14.
Clin Genet ; 104(5): 564-570, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37286336

RESUMO

Male infertility affects more than 20 million men worldwide and is a major public health concern. Male infertility has a strong genetic basis, particularly for those unexplained cases. Here, through genetic analysis of three Pakistani families having eight infertile men with normal parameters in routine semen analysis, we identified a novel ACTL7A variant (c.149_150del, p.E50Afs*6), recessively co-segregating with infertility in these three families. This variant leads to the loss of ACTL7A proteins in spermatozoa from patients. Transmission EM analyses revealed acrosome detachment from nuclei in 98.9% spermatozoa of patients. Interestingly, this ACTL7A variant was frequently detected in our sequenced Pakistani Pashtuns with a minor allele frequency of ~0.021 and all the carriers shared a common haplotype of about 240 kb flanking ACTL7A, indicating that it is likely originated from a single founder. Our findings reveal that a founder ACTL7A pathogenic variant confers a high genetic susceptibility for male infertility with normal routine semen parameters but acrosomal ultrastructural defects in Pakistani Pashtun descendants, and highlight that variants not rare should also be considered when trying to identify disease-causing variants in ethnic groups with the tradition of intra-ethnic marriages.


Assuntos
Acrossomo , Infertilidade Masculina , Humanos , Masculino , Infertilidade Masculina/genética , Paquistão , Sêmen , Espermatozoides/metabolismo
15.
Hum Reprod ; 38(Supplement_2): ii34-ii46, 2023 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-37982417

RESUMO

STUDY QUESTION: How do the types and frequency of chromosome aberrations in couples in central China affect fertility and ART treatment? SUMMARY ANSWER: Men with chromosome aberrations or polymorphisms have an increased risk of semen quality impairment and infertility, and couples affected by reciprocal translocations had a lower pregnancy rate compared with other chromosome aberrations. WHAT IS KNOWN ALREADY: Karyotyping is crucial for patients affected by infertility as chromosome aberrations play an important role in the etiology of male infertility. However, the influence of chromosome aberrations and polymorphisms on sperm motility and morphology remains controversial. Data on ART treatment outcomes in infertile couples affected by chromosome aberrations are insufficient. STUDY DESIGN, SIZE, DURATION: We conducted a retrospective study involving 17 054 patients affected by infertility who underwent karyotyping in our center between January 2020 and May 2022. PARTICIPANTS/MATERIALS, SETTING, METHODS: Karyotyping was performed on 17 054 patients with reproductive failure. All patients were from the central regions of China. The following data were collected from a medical records system using patient identification numbers: couples' ages, history of pregnancy and childbirth, type of infertility, years of infertility, cause of infertility, chromosome karyotypes, semen analysis results, assisted reproductive techniques performed, and treatment outcomes of ART. MAIN RESULTS AND THE ROLE OF CHANCE: The incidence of chromosome aberrations was 2.04%; 2.49% in men and 1.57% in women. By analyzing the relationships between chromosome aberrations/polymorphisms and abnormal semen parameters, we found that there were significantly higher rates of asthenozoospermia, oligospermia, and teratozoospermia among men with Robertsonian translocations and sex chromosomal structural aberrations compared with those with normal karyotypes. Higher rates of asthenozoospermia and teratozoospermia were also observed among men with autosomal reciprocal translocations. The incidence of chromosome aberrations in azoospermic men (13.75%), and in men with cryptozoospermia or severe oligospermia (6.97%) was significantly higher than that in men with mild oligospermia or normospermia (0.88-2.12%). In addition, we found that the progressive movement of sperm is impaired in men with Chromosome 21 polymorphisms compared with men with normal karyotypes (39.46% ± 20.51% vs 48.61% ± 18.76%, P = 0.026). The percentage of morphologically normal forms was lower in the chromosomal polymorphism group than in the normal karyotype group (5.01% ± 2.41% vs 5.59% ± 2.14%, P = 0.001), especially in men with polymorphisms on Chromosome 9 (enlarged Chromosome 9 heterochromatin [9qh+]: 4.48% ± 2.22% vs 5.59% ± 2.14%, P = 0.006; pericentric inversion of Chromosome 9 [inv(9)]: 5.09% ± 3.11% vs 5.59% ± 2.14%, P = 0.008). ART treatment was successful in 36.00% of couples affected by chromosome aberrations. However, couples affected by reciprocal translocations achieved a lower pregnancy rate (24.07%), which may be due to the lower euploidy rates (27.31%) when compared with that in other chromosome aberrations. LIMITATIONS, REASONS FOR CAUTION: First, although the initial cohort was large, chromosome aberrations were identified in a small number of patients. Second, the observational nature of the study design is limiting. Third, the couples affected by infertility in this study were all outpatients that did not undergo identical comprehensive examinations except for karyotyping, leading to the incomplete collection of medical records. Also, the population included in this study mainly focused on couples affected by infertility, which may not be included in the European Association of Urology (EAU) recommendation on male infertility. WIDER IMPLICATIONS OF THE FINDINGS: Men with chromosome aberrations or polymorphisms have an increased risk of semen quality impairment and infertility. Constitutional chromosome analysis is recommended for men affected by infertility and severe oligospermia or azoospermia to facilitate early and appropriate guidance for the most suitable treatment. Carriers of chromosome aberrations can achieve acceptable pregnancy outcomes through IVF. However, couples affected by reciprocal translocations have lower pregnancy rates, and more treatment cycles are needed before a successful pregnancy. A possible explanation may be the fewer euploid embryos obtained. STUDY FUNDING/COMPETING INTEREST(S): This work was supported by Grant 2021YFC2700603 from the National Key Research & Development Program of China. The authors declare no conflicts of interest. TRIAL REGISTRATION NUMBER: N/A.


Assuntos
Astenozoospermia , Infertilidade Masculina , Oligospermia , Teratozoospermia , Gravidez , Masculino , Humanos , Feminino , Estudos Retrospectivos , Análise do Sêmen , Sêmen , Motilidade dos Espermatozoides , Aberrações Cromossômicas , Translocação Genética , Infertilidade Masculina/genética , Infertilidade Masculina/terapia , Fertilidade
16.
Hum Reprod ; 38(2): 216-224, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36610456

RESUMO

STUDY QUESTION: Is prior testicular torsion associated with testicular function (semen quality and reproductive hormones) in young men from the general population? SUMMARY ANSWER: In young men from the general population, no differences in semen parameters were observed in those who had experienced testicular torsion compared to controls and observations of higher FSH and lower inhibin B were subtle. WHAT IS KNOWN ALREADY: Testicular function may be impaired after testicular torsion, but knowledge is sparse and based on studies with small sample sizes and no control group or a less than ideal control group. STUDY DESIGN, SIZE, DURATION: A cross-sectional population-based study was carried out including 7876 young Danish men with unknown fertility potential, examined from 1996 to 2020. PARTICIPANTS/MATERIALS, SETTING, METHODS: All men (median age 19.0 years) had a physical examination, provided a blood and semen sample, and filled in a questionnaire including information about prior testicular torsion, birth, lifestyle and current and previous diseases. Markers of testicular function, including testis volume, semen parameters and reproductive hormones, were compared between men operated for testicular torsion and controls, using multiple linear regression analyses. MAIN RESULTS AND THE ROLE OF CHANCE: The average participation rate was 24% for the entire study period. In total, 57 men (0.72%) were previously operated for testicular torsion (median age at surgery 13.4 years) of which five had only one remaining testicle. Men with prior testicular torsion were more often born preterm (25% versus 9.5% among controls), and they had significantly higher FSH and lower inhibin B levels, and a lower inhibin B/FSH ratio than controls in crude and adjusted models. The association was mainly driven by the subgroup of men who had undergone unilateral orchiectomy. No differences in semen parameters were observed. LIMITATIONS, REASONS FOR CAUTION: A limitation is the retrospective self-reported information on testicular torsion. Also, results should be interpreted with caution owing to the high uncertainty of the observed differences. WIDER IMPLICATIONS OF THE FINDINGS: Overall, the results of our study are reassuring for men who have experienced testicular torsion, especially when treated with orchiopexy, for whom reproductive hormone alterations were subtle and without obvious clinical relevance. Our study found no differences in semen parameters, but follow-up studies are needed to assess any long-term consequences for fertility. STUDY FUNDING/COMPETING INTEREST(S): Financial support was received from the Danish Ministry of Health; the Danish Environmental Protection Agency; the Research fund of Rigshospitalet, Copenhagen University Hospital; the European Union (Contract numbers BMH4-CT96-0314, QLK4-CT-1999-01422, QLK4-CT-2002-00603, FP7/2007-2013, DEER Grant agreement no. 212844); A.P. Møller and wife Chastine Mckinney Møllers Foundation; Svend Andersens Foundation; the Research Fund of the Capital Region of Denmark; and ReproUnion (EU/Interreg). The authors have nothing to declare. TRIAL REGISTRATION NUMBER: N/A.


Assuntos
Análise do Sêmen , Torção do Cordão Espermático , Testículo , Adolescente , Humanos , Masculino , Adulto Jovem , Estudos Transversais , Espectroscopia de Ressonância de Spin Eletrônica , Hormônio Foliculoestimulante/análise , Hormônio Luteinizante/análise , Estudos Retrospectivos , Análise do Sêmen/métodos , Torção do Cordão Espermático/complicações , Torção do Cordão Espermático/epidemiologia , Testículo/lesões , Testículo/metabolismo , Testículo/fisiologia , Testículo/fisiopatologia
17.
Reprod Biomed Online ; 47(1): 11-14, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37202319

RESUMO

Male infertility is a disease that deserves greater clinical attention and research. A universally accepted definition that emphasizes the modulatory impact of age, lifestyle and environmental factors and includes comprehensive diagnostic and treatment guidelines is needed to ensure accurate evaluation and effective care. Accordingly, male infertility should be defined as a disease of the male reproductive system, caused primarily by congenital and genetic conditions, anatomical, endocrine, functional or immunological abnormalities of the reproductive system, genital tract infections, cancer and its related treatments, and sexual disorders incompatible with intercourse. Inadequate lifestyle, exposure to toxicants and advanced paternal age are critical factors acting alone or exacerbating the impact of known causative factors. The focus on male infertility must be balanced with that on female infertility to ensure the best possible outcome for the couple. Fertility clinics are encouraged to prioritize collaboration with reproductive urologists and andrologists to provide the best possible care for male infertility patients.


Assuntos
Infertilidade Feminina , Infertilidade Masculina , Infertilidade , Humanos , Masculino , Feminino , Infertilidade Masculina/etiologia , Infertilidade Masculina/terapia , Infertilidade/complicações , Infertilidade Feminina/complicações
18.
Am J Obstet Gynecol ; 228(2): 150-160, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36108728

RESUMO

OBJECTIVE: During the COVID-19 era, semen collection at infertility centers might increase the risk of spreading SARS-CoV-2. Seminal fluid collection at home is an alternative method for preventing this spread. However, there is no conclusion about the effect of home vs clinic semen collection on semen parameters and assisted reproductive technology outcomes. This systematic review and metaanalysis aimed to assess the effect of semen collection location on semen parameters and fertility outcomes. DATA SOURCES: A literature search was conducted using the major electronic databases including MEDLINE via Ovid, EMBASE, Scopus, CINAHL, OpenGrey, and CENTRAL from their inception to September 2021. CLINICALTRIALS: gov was searched to identify the ongoing registered clinical trials. STUDY ELIGIBILITY CRITERIA: We included all human randomized controlled trials and observational studies that investigated the effect of at-home semen collection vs in-clinic semen collection on semen parameters and fertility outcomes. METHODS: We pooled the mean difference and risk ratio using Review Manager software version 5.4.1 (The Cochrane Collaboration, 2022). The Grading of Recommendations, Assessment, Development and Evaluations approach was applied to assess the quality of evidence. RESULTS: Seven studies (3018 semen samples) were included. Overall, at-home semen collection results made little to no difference in semen volume (mean difference, 0.37; 95% confidence interval, -0.10 to 0.85; low-quality evidence), sperm count (mean difference, -6.02; 95% confidence interval, -27.26 to 15.22; very low-quality evidence), and sperm motility (mean difference, 0.76; 95% confidence interval, -4.39 to 5.92; very low-quality evidence) compared with in-clinic semen collection. There was no difference in fertilization rate (risk ratio, 1.00; 95% confidence interval, 0.97-1.03; very low-quality evidence) and pregnancy rate in in vitro fertilization (risk ratio, 1.04; 95% confidence interval, 0.86-1.25; very low-quality evidence). CONCLUSION: At-home semen collection had no adverse effects on semen parameters or fertility outcomes compared with in-clinic collection. However, higher-quality evidence is needed.


Assuntos
COVID-19 , Sêmen , Gravidez , Feminino , Masculino , Humanos , Motilidade dos Espermatozoides , SARS-CoV-2 , Taxa de Gravidez , Fertilidade
19.
Int Microbiol ; 26(1): 69-79, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36001166

RESUMO

BACKGROUND: The aim of this study was to evaluate (i) the prevalence of subjects with a positive sperm culture (SC) for bacteria in subjects with or without genitourinary tract inflammation (GTI); (ii) the actual distribution of the species analysed, according to Gram stain; (iii) the impact on sperm parameters; and (iv) the actual bacterial susceptibility to antibiotics. METHODS: A total of 930 subjects (18-55) years, were retrospectively studied. All the patients underwent SC and in the case of positive tests (CFU > 106), a microbiological susceptibility analysis. The subjects studied were subdivided into group A (n = 452), with subjective signs of GTI; group B (n = 478), male partners of infertile couples; and group C, 30 healthy normospermic subjects. In group B and in the control group, a semen analysis was performed. RESULTS: Overall, the prevalence of positive SC was 21.5% (200/930). The prevalence of positive SC in group A (113/200; 56.5%) was significantly higher vs. group B (87/200; 43.5%; p = 0.01) and control group (1/30; 3.3%; p = 0.0001). In subjects with GTI, the prevalence of asthenozoospermic (96/285; 33.7%) and oligo-asthenozoospermic (98/285; 34.4%) was significantly higher vs. normospermic, oligo-astheno-teratozoospermic, oligozoospermic and azoospermic subjects (22/285 (7.7%), 48/285 (16.8%), 15/285 (5.3%) and 6/285 (2.1%), respectively; p = 0.001). Finally, Enterococcus faecalis (Gram-positive) and Escherichia coli (Gram-negative) showed the highest prevalence of antibiotic resistance. CONCLUSIONS: The prevalence of positive SC is higher in GTI subjects; however, the SC could also be positive in subjects without GTI. Commonly used antibiotics have an increasing risk of being useless for the treatment of bacterial infections. Finally, the diagnosis of GTIs is important also for male fertility.


Assuntos
Infertilidade Masculina , Humanos , Masculino , Infertilidade Masculina/diagnóstico , Sêmen , Prevalência , Estudos Retrospectivos , Espermatozoides , Bactérias
20.
Sleep Breath ; 27(6): 2341-2349, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37184755

RESUMO

BACKGROUND: Obstructive sleep apnea (OSA) has several notable complications such as hypertension and diabetes. Studies have also shown that OSA is associated with erectile dysfunction and reduced androgen levels. However, the effect of OSA on semen quality remains poorly studied. METHODS: Men attending a tertiary reproductive center for semen analysis were tested with a portable sleep breathing monitor. Patients were divided into four groups based on their apnea hypopnea index: none, mild, moderate, and severe obstructive sleep apnea. Differences between groups were assessed using χ2, and associations were tested with multiple regression analysis. RESULTS: We included a total of 175 male subjects with a mean age of 32.2 ± 3.6 years. There were significant differences between groups in progressive sperm motility (%) (43 ± 16, 42 ± 17, 36 ± 18, 29 ± 18, respectively; p = 0.002), total motility (%) (59 ± 19, 59 ± 20, 49 ± 21, 42 ± 20, respectively; p = 0.010), and vitality (%) (80 ± 10, 81 ± 11, 79 ± 8, 72 ± 19, respectively; p = 0.039). Asthenospermia (progressive motility < 35%) was significantly more common in subjects with OSA (χ2 = 5.195, p = 0.023). In multiple regression models, after adjusting for age and body mass index, apnea hypopnea index remained negatively and significantly associated with progressive motility, total motility, and vitality. CONCLUSIONS: OSA is an independent risk factor for sperm motility and vitality, and further investigation is now needed to determine if continuous positive pressure ventilation or other therapies can improve semen quality in these patients.


Assuntos
Análise do Sêmen , Apneia Obstrutiva do Sono , Humanos , Masculino , Adulto , Polissonografia , Motilidade dos Espermatozoides , Pressão Positiva Contínua nas Vias Aéreas
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