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 die...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.展开更多
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,th...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.展开更多
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 fo...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;P<0.001).Significant differences in the proportion of SDF were found when all cohorts were compared(P<0.001);these significant differences were also retained when the different cohorts were compared pairwise.ROC analysis showed a moderate but significant predictive value for SDF to differentiate patients with different levels of teratozoospemia.Conclusions:Although analysis of a more continuous range of values for teratozoospermia 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.展开更多
Oligo-astheno-teratozoospermia（OAT） which perplexes doctors and patients due to its complicated etiology, atypical symptoms and poor clinical efficacy, is a general term for the three pathological states of abnormal...Oligo-astheno-teratozoospermia（OAT） which perplexes doctors and patients due to its complicated etiology, atypical symptoms and poor clinical efficacy, is a general term for the three pathological states of abnormal semen. OAT is the main factor of male infertility. It is also a hot and difficult point in present studies. Empiric drug is the most popular treatment of this disease in the modern medicine. Chinese medicine（CM） is one of the main methods for the treatment of this disease, and it has certain clinical effect. The author believes that the use of modern medical technology to make the diagnosis as clear as possible is the key to treat OAT. The combination of syndrome and disease differentiation is the main mode in the treatment of OAT. Microscopic syndrome differentiation and macroscopic evidence embodies the basic principle of ＂Si Wai Chuai Nei＂ and broadens the perspective of CM syndrome differentiation. Classification and treatment are basic methods for the treatment of OAT. The treatment should not be limited to the Shen（Kidney）, instead it should focus on the whole body condition. At different stages, the treatment should also pay attention to strengthening the Pi（Spleen）, nourishing the Gan（Liver） and promoting blood circulation. Complementing Chinese and Western medicine, and highlighting the characteristics and advantages of CM treatment, have a great guiding value for the treatment of OAT.展开更多
Teratozoospermia is usually associated with defective spermiogenesis and is a disorder with considerable genetic heterogeneity. Although previous studies have identified several teratozoospermia-associated genes, the ...Teratozoospermia is usually associated with defective spermiogenesis and is a disorder with considerable genetic heterogeneity. Although previous studies have identified several teratozoospermia-associated genes, the etiology remains unknown for a majority of affected men. Here, we identified a homozygous missense mutation and a compound heterozygous mutation of CCIN in patients suffering from teratozoospermia. CCIN encodes the cytoskeletal protein Calicin that is involved in the formation and maintenance of the highly regular organization of the calyx of mammalian spermatozoa, and has been proposed to play a role in sperm head structure remodeling during the process of spermiogenesis. Our morphological and ultrastructural analyses of the spermatozoa obtained from all three men harboring deleterious CCIN mutants reveal severe head malformation. Further immunofluorescence assays unveil markedly reduced levels of Calicin in spermatozoa. These patient phenotypes are successfully recapitulated in mouse models expressing the disease-associated variants, confirming the role of Calicin in male fertility.Notably, all mutant spermatozoa from mice and human patients fail to adhere to the zona mass, which likely is the major mechanistic reason for CCIN-mutant sperm-derived infertility. Finally, the use of intracytoplasmic sperm injections(ICSI) successfully makes mutated mice and two couples with CCIN variants have healthy offspring. Taken together, our findings identify the role of Calicin in sperm head shaping and male fertility, providing important guidance for genetic counseling and assisted reproduction treatments.展开更多
文摘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.
基金This study was supported by the National Natural Science Foundation of China(No.32200485)the University Synergy Innovation Program of Anhui Province(GXXT-2021-071)Shanghai Municipal Science and Technology Major Project(No.2017SHZDZX01).
文摘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.
文摘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;P<0.001).Significant differences in the proportion of SDF were found when all cohorts were compared(P<0.001);these significant differences were also retained when the different cohorts were compared pairwise.ROC analysis showed a moderate but significant predictive value for SDF to differentiate patients with different levels of teratozoospemia.Conclusions:Although analysis of a more continuous range of values for teratozoospermia 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.
基金Supported by the National Natural Science Foundation of China(No.81473527)
文摘Oligo-astheno-teratozoospermia（OAT） which perplexes doctors and patients due to its complicated etiology, atypical symptoms and poor clinical efficacy, is a general term for the three pathological states of abnormal semen. OAT is the main factor of male infertility. It is also a hot and difficult point in present studies. Empiric drug is the most popular treatment of this disease in the modern medicine. Chinese medicine（CM） is one of the main methods for the treatment of this disease, and it has certain clinical effect. The author believes that the use of modern medical technology to make the diagnosis as clear as possible is the key to treat OAT. The combination of syndrome and disease differentiation is the main mode in the treatment of OAT. Microscopic syndrome differentiation and macroscopic evidence embodies the basic principle of ＂Si Wai Chuai Nei＂ and broadens the perspective of CM syndrome differentiation. Classification and treatment are basic methods for the treatment of OAT. The treatment should not be limited to the Shen（Kidney）, instead it should focus on the whole body condition. At different stages, the treatment should also pay attention to strengthening the Pi（Spleen）, nourishing the Gan（Liver） and promoting blood circulation. Complementing Chinese and Western medicine, and highlighting the characteristics and advantages of CM treatment, have a great guiding value for the treatment of OAT.
基金supported by the National Natural Science Foundation of China(31930063,81771533,81901531,31971137,and 81871163)the National Key Research and Development Program of China(2018YFC2000102,2018YFA0107004,and 2018YFC1003000)+2 种基金the Shanghai Municipal Health Commission and Collaborative Innovation Cluster Project(2019CXJQ01)SHIPM-pi Fund(JY201801)SHIPM-mu Fund(JC201802)。
文摘Teratozoospermia is usually associated with defective spermiogenesis and is a disorder with considerable genetic heterogeneity. Although previous studies have identified several teratozoospermia-associated genes, the etiology remains unknown for a majority of affected men. Here, we identified a homozygous missense mutation and a compound heterozygous mutation of CCIN in patients suffering from teratozoospermia. CCIN encodes the cytoskeletal protein Calicin that is involved in the formation and maintenance of the highly regular organization of the calyx of mammalian spermatozoa, and has been proposed to play a role in sperm head structure remodeling during the process of spermiogenesis. Our morphological and ultrastructural analyses of the spermatozoa obtained from all three men harboring deleterious CCIN mutants reveal severe head malformation. Further immunofluorescence assays unveil markedly reduced levels of Calicin in spermatozoa. These patient phenotypes are successfully recapitulated in mouse models expressing the disease-associated variants, confirming the role of Calicin in male fertility.Notably, all mutant spermatozoa from mice and human patients fail to adhere to the zona mass, which likely is the major mechanistic reason for CCIN-mutant sperm-derived infertility. Finally, the use of intracytoplasmic sperm injections(ICSI) successfully makes mutated mice and two couples with CCIN variants have healthy offspring. Taken together, our findings identify the role of Calicin in sperm head shaping and male fertility, providing important guidance for genetic counseling and assisted reproduction treatments.
