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The identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa

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Asian Journal of Andrology 2024年第1期26卷 107-111页

作者： Liu Liu Jing Yang Wen-Jing Zhang Yi-Ling Zhou Gui-Jun Zhao Ya Huang Shu-Yan Tang Obstetrics and Gynecology Hospital Fudan UniversityShanghai 200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai 200011China State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development Department of Computational BiologySchool of Life SciencesFudan UniversityShanghai 200436China Shanghai Towako Hospital Shanghai 200131China Shanghai Institute of Medical Genetics Shanghai Children's HospitalShanghai Jiao Tong UniversityShanghai 200040China

teratozoospermia with cephalic defects is one of the most severe types of sperm defects known to date.While several monogenic factors are linked to cephalic abnormalities,such as globozoospermia and macrozoospermia,the genetic cause of vacuolated spermatozoa remains inadequately described.Here,we analyzed whole-exome sequencing(WES)data for an individual from a consanguineous family with severely vacuolated spermatozoa.The analysis revealed a novel homozygous c.520A>G(p.Thr174Ala)variant in the archaelysin family metallopeptidase 2(AMZ2),a gene that encodes a zinc metalloprotease previously shown to be highly expressed in the testes and sperm.Multiple algorithms predicted this variant to be a damaging mutation.Consistent with an autosomal recessive mode of inheritance,this variant was inherited from heterozygous parental carriers.To investigate the potential pathogenicity of the identified variant,we compared the AMZ2 expression in sperm cells from the patient with the AMZ2 variant and from a healthy control.Immunoblot analysis revealed that the homozygous missense variant in AMZ2 abolished AMZ2 expression in the spermatozoa.Our findings reveal a candidate causative gene for vacuolated spermatozoa.

关键词： AMZ2 male infertility sperm quality teratozoospermia

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Cold and Fertile: Cryopreservation as an Innovative Tool in Addressing Challenges in teratozoospermia

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Journal of Biosciences and Medicines 2024年第2期12卷 274-281页

作者： Víctor Manuel Soto-Márquez Jorge Mulia-Rodríguez Daniel Osorio-González Molecular Biophysics Laboratory Faculty of Sciences Autonomous University of State of Mexico Toluca Mexico

teratozoospermia is an infertility issue that affects a significant number of couples of reproductive age. One of the potential causes contributing to the global decline in seminal quality includes factors such as diet, alcohol and tobacco consumption, high levels of stress, and environmental influences. This underscores the need to preserve the fertility of these patients through cryopreservation techniques. In this review, we explore the latest methods for freezing seminal samples, highlighting their advancements and advantages in addressing the challenge of perpetuating animal species, particularly in the context of human infertility.

关键词： Cryopreservation teratozoospermia Infertility

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Association between semen collection time and semen parameters:an observational study

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Asian Journal of Andrology 2023年第3期25卷 339-344页

作者： Shun Bai Xian-Chao Dou Hao-Lin Qi Yan-Song Zhu Yin-Tao Zhang Yi-Xun Liu Xue-Chun Hu Cheng Cao Xian-Hong Tong Bo Xu Li-Min Wu Xiao-Hua Jiang Reproductive and Genetic Hospital The First Affiliated Hospital of University of Science and Technology of ChinaDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230001China School of Medical Imaging Bengbu Medical UniversityBengbu 233030China The First Clinical Medical School Anhui Medical UniversityHefei 230022China School of Life Science Anhui Medical UniversityHefei 230022China Department of Biochemistry and Molecular Biology Anhui Medical UniversityHefei 230022China Department of Urology The First Affiliated Hospital of University of Science and Technology of ChinaDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230001China

The process of semen collection plays a key role in the quality of semen specimens.However,the association between semen collection time and semen quality is still unclear.In this study,ejaculates by masturbation from 746 subfertile men or healthy men who underwent semen analysis were examined.The median(interquartile range)semen collection time for all participants was 7.0(5.0-11.0)min,and the median time taken for semen collection was lower in healthy men than that in subfertile men(6.0 min vs 7.0 min).An increase in the time required to produce semen samples was associated with poorer semen quality.Among those undergoing assisted reproductive technology(ART),the miscarriage rate was positively correlated with the semen collection time.After adjusting for confounders,the highest quartile(Q4)of collection time was negatively associated with semen volume and sperm concentration.A longer time to produce semen samples(Q3 and Q4)was negatively correlated with progressive and total sperm motility.In addition,there was a significant negative linear association between the semen collection time and the sperm morphology.Higher risks of asthenozoospermia(adjusted odds ratio[OR]=2.06,95%confidence interval[CI]:1.31-3.25,P=0.002)and teratozoospermia(adjusted OR=1.98,95%CI:1.10-3.55,P=0.02)were observed in Q3 than those in Q1.Our results indicate that a higher risk of abnormal semen parameter values was associated with an increase in time for semen collection,which may be related to male fertility through its association with semen quality.

关键词： asthenozoospermia semen collection time semen quality teratozoospermia

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Biallelic mutations in WDR12 are associated with male infertility with tapered-head sperm

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Asian Journal of Andrology 2023年第3期25卷 398-403页

作者： Juan Hua Lan Guo Yao Yao Wen Hu Yang-Yang Wan Bo Xu Department of Biochemistry and Molecular Biology School of Basic Medical SciencesAnhui Medical UniversityHefei 230032China Metabolic Disease Research Center School of Basic MedicineAnhui Medical UniversityHefei 230032China Hefei Xingzhike Biotechnology Co. Ltd.Hefei 230000China Reproductive and Genetic Hospital The First Affiliated Hospital of USTCDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230001China

teratozoospermia is a rare disease associated with male infertility.Several recurrent genetic mutations have been reported to be associated with abnormal sperm morphology,but the genetic basis of tapered-head sperm is not well understood.In this study,whole-exome sequencing(WES)identified a homozygous WD repeat domain 12(WDR12;p.Ser162Ala/c.484T>G)variant in an infertile patient with tapered-head spermatozoa from a consanguineous Chinese family.Bioinformatic analysis predicted this mutation to be a pathogenic variant.To verify the effect of this variant,we analyzed WDR12 protein expression in spermatozoa of the patient and a control individual,as well as in the 293T cell line,by Western blot analysis,and found that WDR12 expression was significantly downregulated.To understand the role of normal WDR12,we evaluated its mRNA and protein expression in mice at different ages.We observed that WDR12 expression was increased in pachytene spermatocytes,with intense staining visible in round spermatid nuclei.Based on these results,the data suggest that the rare biallelic pathogenic missense variant(p.Ser162Ala/c.484T>G)in the WDR12 gene is associated with tapered-head spermatozoa.In addition,after intracytoplasmic sperm injection(ICSI),a successful pregnancy was achieved.This finding indicates that infertility associated with this WDR12 homozygous mutation can be overcome by ICSI.The present results may provide novel insights into understanding the molecular mechanisms of male infertility.

关键词： male infertility tapered-head sperm teratozoospermia WD repeat domain 12(WDR12)

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Influence of sperm morphology on pregnancy outcome and offspring in in vitro fertilization and intracytoplasmic sperm injection:a matched case-control study

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Asian Journal of Andrology 2021年第4期23卷 421-428页

作者： Wen-Jun Zhou Chuan Huang Su-Hua Jiang Xi-Ren Ji Fei Gong Li-Qing Fan Wen-Bing Zhu Institute of Reproductive and Stem Cell Engineering Basic Medicine CollegeCentral South UniversityChangsha 410008China Reproductive and Genetic Hospital of CITIC-Xiangya Changsha 410008China Clinical Research Center for Reproduction and Genetics in Hunan Province Changsha 410008China

Sperm morphology was once believed as one of the most predictive indicators of pregnancy outcome in assisted reproductive technology(ART).However,the impact of teratozoospermia on in vitro fertilization(IVF)/intracytoplasmic sperm injection(ICSI)outcomes and its offspring remains inconclusive.In order to evaluate the influence of teratozoospermia on pregnancy outcome and newborn status after IVF and ICSI,a retrospective study was conducted.This was a matched case-control study that included 2202 IVF cycles and 2574 ICSI cycles and was conducted at the Reproductive and Genetic Hospital of CITIC-Xiangya in Changsha,China,from June 2013 to June 2018.Patients were divided into two groups based on sperm morphology:teratozoospermia and normal sperm group.The pregnancy outcome and newborn outcome were analyzed.The results indicated that couples with teratozoospermia had a significantly lower optimal embryo rate compared to those with normal sperm morphology in IVF(P=0.007),while there were no statistically significant differences between the two groups in terms of the fertilization rate,cleavage rate,implantation rate,and pregnancy rate(all P>0.05).Additionally,teratozoospermia was associated with lower infant birth weight in multiple births after IVF.With regard to ICSI,there was no significant difference in both pregnancy outcome and newborn outcome between the teratozoospermia and normal groups(both P>0.05).Furthermore,no increase in the risk of birth defects occurred in the teratozoospermia group after IVF/ICSI.Consequently,we believe that teratozoospermia has limited predictive value for pregnancy outcomes in IVF/ICSI,and has little impact on the resulting offspring if multiple pregnancy is avoided.

关键词： in vitro fertilization intracytoplasmic sperm injection newborn outcome pregnancy outcome teratozoospermia

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The relationship between DNA fragmentation and the intensity of morphologically abnormal human spermatozoa

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Asian pacific Journal of Reproduction 2024年第1期13卷 22-27页

作者： Mercedes González-Martínez Pascual Sánchez-Martín Carmen López-Fernández Stephen D.Johnston Jaime Gosálvez Clínica Ginemed Unidad de ReproducciónSevillaSpain Department of Biology Universidad Autónoma de MadridCantoblancoMadridSpain School of Environment The University of QueenslandGattonAustralia School of Veterinary Science The University of QueenslandGattonAustralia

Objective:To determine the relationship between teratozoospermia and sperm DNA fragmentation(SDF)in the human ejaculate.Methods:This retrospective study included 100 normozoospermic men as a control cohort(abnormal forms>14%),210 patients with a high level of abnormal forms(≤4%)and 65 patients presenting with a moderate level of abnormal forms(>4%to≤14%)based on the World Health Organization definitions.Sperm morphology was assessed using bright field microscopy.Sperm DNA fragmentation was assessed using the sperm chromatin dispersion assay.Non-parametric analyses were conducted to examine the relationship between abnormal sperm morphology and sperm DNA fragmentation;receiver operating characteristic(ROC)analyses were conducted to assess sensitivity and specificity of this relationship.Results:A correlation analysis revealed that the higher the proportion of abnormal spermatozoa in the ejaculate,the higher the level of SDF(Spearman's Rho=-0.230;Pteratozoospermia would help further clarify any causal relationship with SDF,there is clearly a synergistic or coincident affiliation between these variables that needs to be acknowledged by the clinician when interpreting the spermiogram.

关键词： teratozoospermia Sperm morphology Sperm DNA fragmentation Male factor Human reproduction Human fertility

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Normozoospermic versus teratozoospermic domestic cats： differential testicular volume, sperm morphometry, and subpopulation structure during epididymal maturation

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Asian Journal of Andrology 2016年第6期18卷 871-878页

作者： Miguel Angel Gutierrez-Reinoso Manuel Garcia-Herreros National Secretariat of Higher Education Science Technology and Innovation (SENESCYT) Quito Ecuador

teratozoospermia （〈40% morphologically normal spermatozoa/ejaculate） is a frequent phenomenon in feline species. This research was carried out to study the possible differences in testicular volume, differential sperm morphometric traits, and potential differences regarding the sperm subpopulational structure during epididymal sperm maturation in teratozoospermic feline donors. Epididymal sperm samples were collected from the caput （R1）, corpus （R2）, and cauda （R3） epididymidis in two donor groups （N： normozoospermic; T： teratozoospermic）. Aliquots were assessed for concentration, viability, motility, and acrosomal integrity. Sperm morphometric descriptors from CASA-Morph analysis were analyzed by the Principal Component Analysis （PCA） and clustering analyses. Irrespective of the group analyzed, PCA revealed two Principal Components （PCs） for each epididymal region explaining more than the 93% of the variance. Surprisingly, the number of subpopulations remained constant in regions R1-R2-R3 irrespective of the donor group analyzed. However, the distribution of these subpopulations was found to be structurally different and strongly influenced by the epididymal region and the donor group. In conclusion, testicular morphometry and the sperm subpopulation structure were different in N and T donors. The alterations in subpopulations during epididymal maturation could be used as a potential clinical indicator of teratozoospermic individuals since an important influence of teratozoospermia on sperm subpopulation structure has been demonstrated.

关键词： epididymis feline sperm morphometry sperm subpopulations teratozoospermia testicular volume

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A Preliminary Study on the Evaluation of Human Sperm Head Morphology with a Domestic Digital Holographic Image System

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Phenomics 2022年第2期2卷 130-135页

作者： Hong Zhu Yong Zhu Can Sun Feng Jiang Department of Urology Obstetrics and Gynecology HospitalFudan UniversityShanghai 200011China Human Sperm Bank of Fudan University Obstetrics and Gynecology HospitalFudan UniversityShanghai 200011China Shanghai JiAi Genetics and IVF Institute China-USA Center Shanghai 200011China

The head of sperm was imaged with domestic digital holographic microscopy(DHM),and then the quantitative three-dimensional size information of normal sperm and teratozoospermic sperm was compared and analyzed.DHM sperm imaging and repeated quantitative evaluation were used to determine the morphology of the sperm head in two patients with teratozoospermia and four volunteers with normal semen parameters.Sixty and 139 sperm of teratozoospermia patients and normal people were photographed by digital hologram,respectively.The differences in head height and width were compared and statistically analyzed.The sperm head height of the teratozoospermia group was 3.06±1.66μm,which was significantly lower than that of the normal sperm group(4.54±1.60μm,p<0.01),but there was no significant difference in the head width between the two groups.Compared with the traditional two-dimensional optical microscope observation method,the DHM system can provide three-dimensional quantitative information for the sperm head and thus may help in the comprehensive clinical evaluation of the sperm head structure.

关键词： Digital holographic microscopy(DHM) teratozoospermia Human sperm head morphology

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Effects of acupuncture and moxa treatment in patients with semen abnormalities

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Asian Journal of Andrology 2003年第4期5卷 345-348页

作者： Edson Gurfinkel Agnaldo P.Cedenho Ysao Yamamura Miguel Srougi Human Reproduction Division Discipline of Urology Sao Paulo Federal University Paulista School of Medicine Sao Paulo BrazilHuman Reproduction Division Discipline of Urology Sao Paulo Federal University Paulista School of Medicine Sao Paulo BrazilHuman Reproduction Division Discipline of Urology Sao Paulo Federal University Paulista School of Medicine Sao Paulo BrazilHuman Reproduction Division Discipline of Urology Sao Paulo Federal University Paulista School of Medicine Sao Paulo Brazil

Aim: To evaluate the effect of Chinese Traditional Medicine, acupuncture and moxa treatment, on the semen quality in patients with semen abnormalities. Methods: In a prospective, controlled and blind study, nineteen patients, aged 24 years-42 years and married for 3 years-11 years without children with semen abnormalities in concentration, morphology and/or progressive motility without apparent cause, were randomized into two groups and submitted to acupuncture and moxa treatment at the therapeutic (Study Group) and the indifferent points (Control Group), respectively, for 10 weeks. Semen analyses were performed before and after the treatment course. Results: The patients of the Study Group presented a significant increase in the percentage of normal-form sperm compared to the Control Group (calculated U=16.0, critical U=17.0). Conclusion: The Chinese Traditional Medicine acupuncture and moxa techniques significantly increase the percentage of normal-form sperm in infertile patients with oligoastenoteratozoospermia without apparent cause.

关键词： acupuncture Chinese traditional medicine infertility moxibustion oligozoospermia teratozoospermia semen

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Epigenetics in the etiology and management of infertility

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World Journal of Medical Genetics 2022年第2期10卷 7-21页

作者： Tajudeen Olanrewaju Yahaya Danlami M Bashar Esther O Oladele Ja'afar Umar Daniel Anyebe Abdulrazaq Izuafa Department of Biological Sciences Federal University Birnin KebbiKebbi State 23401Nigeria Department of Microbiology Federal University Birnin KebbiKebbi State 23401Nigeria Biology Unit Distance Learning InstituteUniversity of LagosLagos State 23401Nigeria Department of Biochemistry and Molecular Biology Federal University Birnin KebbiKebbi State 23401Nigeria

BACKGROUND Epigenetic disruptions have been implicated in some cases of infertility and can serve as therapeutic targets.However,the involvement of epigenetics in infertility has not received adequate attention.AIM This study aimed to determine the epigenetic basis of infertility in order to enhance public knowledge.METHODS Relevant articles on the subject were collected from PubMed,RCA,Google Scholar,SpringerLink,and Scopus.The articles were pooled together and duplicates were removed using Endnote software.RESULTS Available information shows that epigenetic mechanisms,mainly DNA methylation,histone modification,and microRNA interference are necessary for normal gametogenesis and embryogenesis.As a result,epigenetic disruptions in genes that control gametogenesis and embryogenesis,such as DDX3X,ADH4,AZF,PLAG1,D1RAS3,CYGB,MEST,JMJD1A,KCNQ1,IGF2,H19,and MTHFR may result in infertility.Aberrant DNA methylation during genomic imprinting and parental epigenetic mark erasures,in particular,may affect the DNA epigenomes of sperm and oocytes,resulting in reproductive abnormalities.in the sperm may also cause reproductive abnormalities.Furthermore,overexpression or repression of certain microRNAs embedded in the ovary,testis,embryo,as well as granulosa cells and oocytes may impair reproduction.Male infertility is characterized by spermatogenesis failure,which includes oligozoospermia,asthenozoospermia,and teratozoospermia,while female infertility is characterized by polycystic ovary syndrome.Some epigenetic modifications can be reversed by deactivating the regulatory enzymes,implying that epigenetic reprogramming could help treat infertility in some cases.For some disorders,epigenetic drugs are available,but none have been formulated for infertility.CONCLUSION Some cases of infertility have an epigenetic etiology and can be treated by reversing the same epigenetic mechanism that caused it.As a result,medical practitioners are urged to come up with epigenetic treatments for infertility that have an epigenetic cause.

关键词： DNA methylation Gametogenesis Infertility Polycystic ovary syndrome Oligozoospermia teratozoospermia

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