Objective:To investigate the association between SPAG17 gene variant and Familial severe asthenozoospermia, and to assess its impact on the outcome of intracytoplasmic sperm injection (ICSI). Methods:Two siblings (Probands 1 and 2) with severe asthenozoospermia from a Chinese family who presented at the Reproductive Medicine Center Ⅱ of Gansu Maternity and Child Health Care Hospital (Gansu Provincial Central Hospital) in May 2023 were selected as study subjects. Clinical data were collected, and sperm morphology and ultrastructure (assessed by transmission electron microscopy) were analyzed. Pathogenic variants were screened using whole exome sequencing (WES) and verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of Gansu Maternity and Child Health Care Hospital (Ethics No.: 2023GSFYLS78).Results:Probands 1 and 2 had primary infertility for 10 and 3 years, respectively, and both exhibited normal semen concentration, but the percentage of progressive motile sperm (PR) was significantly lower than the normal reference value (>32.00%), measuring 2.33%±0.58% and 0.80%±0.45%, respectively. Additionally, the percentage of sperms with normal morphology was slightly below the reference range (>4.00%), with the values of 3.36%±0.35% and 2.93%±1.36%. Both probands were found to harbor homozygous c. 2188C>T (p.Q730*) nonsense variant of the SPAG17 gene (NM_206996.4), for which their mother was a heterozygous carrier (their father had already deceased). Both sibs underwent ICSI treatment using a long gonadotropin-releasing hormone agonist protocol during the follicular phase combined with assisted oocyte activation (AOA). The wife of Proband 1 ultimately gave birth to a healthy girl, whilst the wife of Proband 2 delivered two healthy girls.Conclusion:The homozygous c. 2188C>T (p.Q730*) nonsense variant of the SPAG17 gene is closely related with the severe asthenozoospermia phenotype. Live births can be achieved through ICSI combined with AOA technology, though the overall utilizable embryo rate may be relatively low.

OBJECTIVE: To investigate the association between SPAG17 gene variant and Familial severe asthenozoospermia, and to assess its impact on the outcome of intracytoplasmic sperm injection (ICSI). METHODS: Two siblings (Probands 1 and 2) with severe asthenozoospermia from a Chinese family who presented at the Reproductive Medicine Center II of Gansu Maternity and Child Health Care Hospital (Gansu Provincial Central Hospital) in May 2023 were selected as study subjects. Clinical data were collected, and sperm morphology and ultrastructure (assessed by transmission electron microscopy) were analyzed. Pathogenic variants were screened using whole exome sequencing (WES) and verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of Gansu Maternity and Child Health Care Hospital (Ethics No.: 2023GSFYLS78). RESULTS: Probands 1 and 2 had primary infertility for 10 and 3 years, respectively, and both exhibited normal semen concentration, but the percentage of progressive motile sperm (PR) was significantly lower than the normal reference value (> 32.00%), measuring 2.33% ± 0.58% and 0.80% ± 0.45%, respectively. Additionally, the percentage of sperms with normal morphology was slightly below the reference range (> 4.00%), with the values of 3.36% ± 0.35% and 2.93% ± 1.36%. Both probands were found to harbor homozygous c.2188C>T (p.Q730*) nonsense variant of the SPAG17 gene (NM_206996.4), for which their mother was a heterozygous carrier (their father had already deceased). Both sibs underwent ICSI treatment using a long gonadotropin-releasing hormone agonist protocol during the follicular phase combined with assisted oocyte activation (AOA). The wife of Proband 1 ultimately gave birth to a healthy girl, whilst the wife of Proband 2 delivered two healthy girls. CONCLUSION The homozygous c.2188C>T (p.Q730*) nonsense variant of the SPAG17 gene is closely related with the severe asthenozoospermia phenotype. Live births can be achieved through ICSI combined with AOA technology, though the overall utilizable embryo rate may be relatively low.
Humans ; Male ; Asthenozoospermia/genetics* ; Adult ; Sperm Injections, Intracytoplasmic ; Pedigree ; Spermatozoa ; Female ; Exome Sequencing

Objective:To investigate the association between SPAG17 gene variant and Familial severe asthenozoospermia, and to assess its impact on the outcome of intracytoplasmic sperm injection (ICSI). Methods:Two siblings (Probands 1 and 2) with severe asthenozoospermia from a Chinese family who presented at the Reproductive Medicine Center Ⅱ of Gansu Maternity and Child Health Care Hospital (Gansu Provincial Central Hospital) in May 2023 were selected as study subjects. Clinical data were collected, and sperm morphology and ultrastructure (assessed by transmission electron microscopy) were analyzed. Pathogenic variants were screened using whole exome sequencing (WES) and verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of Gansu Maternity and Child Health Care Hospital (Ethics No.: 2023GSFYLS78).Results:Probands 1 and 2 had primary infertility for 10 and 3 years, respectively, and both exhibited normal semen concentration, but the percentage of progressive motile sperm (PR) was significantly lower than the normal reference value (>32.00%), measuring 2.33%±0.58% and 0.80%±0.45%, respectively. Additionally, the percentage of sperms with normal morphology was slightly below the reference range (>4.00%), with the values of 3.36%±0.35% and 2.93%±1.36%. Both probands were found to harbor homozygous c. 2188C>T (p.Q730*) nonsense variant of the SPAG17 gene (NM_206996.4), for which their mother was a heterozygous carrier (their father had already deceased). Both sibs underwent ICSI treatment using a long gonadotropin-releasing hormone agonist protocol during the follicular phase combined with assisted oocyte activation (AOA). The wife of Proband 1 ultimately gave birth to a healthy girl, whilst the wife of Proband 2 delivered two healthy girls.Conclusion:The homozygous c. 2188C>T (p.Q730*) nonsense variant of the SPAG17 gene is closely related with the severe asthenozoospermia phenotype. Live births can be achieved through ICSI combined with AOA technology, though the overall utilizable embryo rate may be relatively low.

Objective:To evaluate the endometrial implantation window in patients with recurrent implantation failure using endometrial receptive array(ERA)sequencing or endometrial histological detection methods,and to explore the effectiveness and cost-effectiveness analysis of two technologies for improving clinical outcomes in such patients.Methods:A retrospective cohort study was conducted on clinical data of 125 patients diagnosed with repeated implantation failure in Gansu Maternal and Child Health Hospital from January 2018 to December 2022.According to whether endometrial receptivity testing was accepted and different detection techniques were used,they were divided into a control group(n=36),a genomic group(n=35),and a histological group(n=54).The clinical data and pregnancy outcomes of the three groups were compared.Results:①The results of one-way ANOVA showed that the embryo implantation rate in the genomic group and histological group was significantly higher than that in the control group,and the difference was statistically significant(P＜0.05).There was no sta-tistically significant difference in embryo implantation rate between genomic and histological groups(P=0.48).②There was no statistically significant difference in clinical pregnancy rate and live birth rate among the three groups(P＞0.05).③Log rank test showed:The time for 50％of patients to reach live labor was significantly shorter than that of the control group,and the difference was statistically significant(P＜0.05);There was no sta-tistically significant difference in the time to live birth in 50％of patients between the genomic and histological groups of 50％of patients(P＞0.05).④The average number of embryos transferred in the control group was significantly higher than that in the genomic and histological groups,with statistical significance(P＜0.05).The cost of genomic patients was significantly higher than that of histology group,and the difference was statistically significant(P＜0.05).Conclusions:①Endometrial implantation window detection is feasible for patients with re-peated implantation failure,which can effectively shorten the time to live birth and reduce the number of transplan-ted embryos;②Both ERA sequencing and endometrial histology detection have limitations as methods to evaluate endometrial implantation window,and it is not clear which detection method has more advantages in accuracy and practicability.

Objective:To evaluate the endometrial implantation window in patients with recurrent implantation failure using endometrial receptive array(ERA)sequencing or endometrial histological detection methods,and to explore the effectiveness and cost-effectiveness analysis of two technologies for improving clinical outcomes in such patients.Methods:A retrospective cohort study was conducted on clinical data of 125 patients diagnosed with repeated implantation failure in Gansu Maternal and Child Health Hospital from January 2018 to December 2022.According to whether endometrial receptivity testing was accepted and different detection techniques were used,they were divided into a control group(n=36),a genomic group(n=35),and a histological group(n=54).The clinical data and pregnancy outcomes of the three groups were compared.Results:①The results of one-way ANOVA showed that the embryo implantation rate in the genomic group and histological group was significantly higher than that in the control group,and the difference was statistically significant(P＜0.05).There was no sta-tistically significant difference in embryo implantation rate between genomic and histological groups(P=0.48).②There was no statistically significant difference in clinical pregnancy rate and live birth rate among the three groups(P＞0.05).③Log rank test showed:The time for 50％of patients to reach live labor was significantly shorter than that of the control group,and the difference was statistically significant(P＜0.05);There was no sta-tistically significant difference in the time to live birth in 50％of patients between the genomic and histological groups of 50％of patients(P＞0.05).④The average number of embryos transferred in the control group was significantly higher than that in the genomic and histological groups,with statistical significance(P＜0.05).The cost of genomic patients was significantly higher than that of histology group,and the difference was statistically significant(P＜0.05).Conclusions:①Endometrial implantation window detection is feasible for patients with re-peated implantation failure,which can effectively shorten the time to live birth and reduce the number of transplan-ted embryos;②Both ERA sequencing and endometrial histology detection have limitations as methods to evaluate endometrial implantation window,and it is not clear which detection method has more advantages in accuracy and practicability.

Objective:To evaluate the endometrial implantation window in patients with recurrent implantation failure using endometrial receptive array(ERA)sequencing or endometrial histological detection methods,and to explore the effectiveness and cost-effectiveness analysis of two technologies for improving clinical outcomes in such patients.Methods:A retrospective cohort study was conducted on clinical data of 125 patients diagnosed with repeated implantation failure in Gansu Maternal and Child Health Hospital from January 2018 to December 2022.According to whether endometrial receptivity testing was accepted and different detection techniques were used,they were divided into a control group(n=36),a genomic group(n=35),and a histological group(n=54).The clinical data and pregnancy outcomes of the three groups were compared.Results:①The results of one-way ANOVA showed that the embryo implantation rate in the genomic group and histological group was significantly higher than that in the control group,and the difference was statistically significant(P＜0.05).There was no sta-tistically significant difference in embryo implantation rate between genomic and histological groups(P=0.48).②There was no statistically significant difference in clinical pregnancy rate and live birth rate among the three groups(P＞0.05).③Log rank test showed:The time for 50％of patients to reach live labor was significantly shorter than that of the control group,and the difference was statistically significant(P＜0.05);There was no sta-tistically significant difference in the time to live birth in 50％of patients between the genomic and histological groups of 50％of patients(P＞0.05).④The average number of embryos transferred in the control group was significantly higher than that in the genomic and histological groups,with statistical significance(P＜0.05).The cost of genomic patients was significantly higher than that of histology group,and the difference was statistically significant(P＜0.05).Conclusions:①Endometrial implantation window detection is feasible for patients with re-peated implantation failure,which can effectively shorten the time to live birth and reduce the number of transplan-ted embryos;②Both ERA sequencing and endometrial histology detection have limitations as methods to evaluate endometrial implantation window,and it is not clear which detection method has more advantages in accuracy and practicability.

Objective:To evaluate the endometrial implantation window in patients with recurrent implantation failure using endometrial receptive array(ERA)sequencing or endometrial histological detection methods,and to explore the effectiveness and cost-effectiveness analysis of two technologies for improving clinical outcomes in such patients.Methods:A retrospective cohort study was conducted on clinical data of 125 patients diagnosed with repeated implantation failure in Gansu Maternal and Child Health Hospital from January 2018 to December 2022.According to whether endometrial receptivity testing was accepted and different detection techniques were used,they were divided into a control group(n=36),a genomic group(n=35),and a histological group(n=54).The clinical data and pregnancy outcomes of the three groups were compared.Results:①The results of one-way ANOVA showed that the embryo implantation rate in the genomic group and histological group was significantly higher than that in the control group,and the difference was statistically significant(P＜0.05).There was no sta-tistically significant difference in embryo implantation rate between genomic and histological groups(P=0.48).②There was no statistically significant difference in clinical pregnancy rate and live birth rate among the three groups(P＞0.05).③Log rank test showed:The time for 50％of patients to reach live labor was significantly shorter than that of the control group,and the difference was statistically significant(P＜0.05);There was no sta-tistically significant difference in the time to live birth in 50％of patients between the genomic and histological groups of 50％of patients(P＞0.05).④The average number of embryos transferred in the control group was significantly higher than that in the genomic and histological groups,with statistical significance(P＜0.05).The cost of genomic patients was significantly higher than that of histology group,and the difference was statistically significant(P＜0.05).Conclusions:①Endometrial implantation window detection is feasible for patients with re-peated implantation failure,which can effectively shorten the time to live birth and reduce the number of transplan-ted embryos;②Both ERA sequencing and endometrial histology detection have limitations as methods to evaluate endometrial implantation window,and it is not clear which detection method has more advantages in accuracy and practicability.

Objective:To evaluate the endometrial implantation window in patients with recurrent implantation failure using endometrial receptive array(ERA)sequencing or endometrial histological detection methods,and to explore the effectiveness and cost-effectiveness analysis of two technologies for improving clinical outcomes in such patients.Methods:A retrospective cohort study was conducted on clinical data of 125 patients diagnosed with repeated implantation failure in Gansu Maternal and Child Health Hospital from January 2018 to December 2022.According to whether endometrial receptivity testing was accepted and different detection techniques were used,they were divided into a control group(n=36),a genomic group(n=35),and a histological group(n=54).The clinical data and pregnancy outcomes of the three groups were compared.Results:①The results of one-way ANOVA showed that the embryo implantation rate in the genomic group and histological group was significantly higher than that in the control group,and the difference was statistically significant(P＜0.05).There was no sta-tistically significant difference in embryo implantation rate between genomic and histological groups(P=0.48).②There was no statistically significant difference in clinical pregnancy rate and live birth rate among the three groups(P＞0.05).③Log rank test showed:The time for 50％of patients to reach live labor was significantly shorter than that of the control group,and the difference was statistically significant(P＜0.05);There was no sta-tistically significant difference in the time to live birth in 50％of patients between the genomic and histological groups of 50％of patients(P＞0.05).④The average number of embryos transferred in the control group was significantly higher than that in the genomic and histological groups,with statistical significance(P＜0.05).The cost of genomic patients was significantly higher than that of histology group,and the difference was statistically significant(P＜0.05).Conclusions:①Endometrial implantation window detection is feasible for patients with re-peated implantation failure,which can effectively shorten the time to live birth and reduce the number of transplan-ted embryos;②Both ERA sequencing and endometrial histology detection have limitations as methods to evaluate endometrial implantation window,and it is not clear which detection method has more advantages in accuracy and practicability.

Objective:To evaluate the endometrial implantation window in patients with recurrent implantation failure using endometrial receptive array(ERA)sequencing or endometrial histological detection methods,and to explore the effectiveness and cost-effectiveness analysis of two technologies for improving clinical outcomes in such patients.Methods:A retrospective cohort study was conducted on clinical data of 125 patients diagnosed with repeated implantation failure in Gansu Maternal and Child Health Hospital from January 2018 to December 2022.According to whether endometrial receptivity testing was accepted and different detection techniques were used,they were divided into a control group(n=36),a genomic group(n=35),and a histological group(n=54).The clinical data and pregnancy outcomes of the three groups were compared.Results:①The results of one-way ANOVA showed that the embryo implantation rate in the genomic group and histological group was significantly higher than that in the control group,and the difference was statistically significant(P＜0.05).There was no sta-tistically significant difference in embryo implantation rate between genomic and histological groups(P=0.48).②There was no statistically significant difference in clinical pregnancy rate and live birth rate among the three groups(P＞0.05).③Log rank test showed:The time for 50％of patients to reach live labor was significantly shorter than that of the control group,and the difference was statistically significant(P＜0.05);There was no sta-tistically significant difference in the time to live birth in 50％of patients between the genomic and histological groups of 50％of patients(P＞0.05).④The average number of embryos transferred in the control group was significantly higher than that in the genomic and histological groups,with statistical significance(P＜0.05).The cost of genomic patients was significantly higher than that of histology group,and the difference was statistically significant(P＜0.05).Conclusions:①Endometrial implantation window detection is feasible for patients with re-peated implantation failure,which can effectively shorten the time to live birth and reduce the number of transplan-ted embryos;②Both ERA sequencing and endometrial histology detection have limitations as methods to evaluate endometrial implantation window,and it is not clear which detection method has more advantages in accuracy and practicability.

Objective:To evaluate the endometrial implantation window in patients with recurrent implantation failure using endometrial receptive array(ERA)sequencing or endometrial histological detection methods,and to explore the effectiveness and cost-effectiveness analysis of two technologies for improving clinical outcomes in such patients.Methods:A retrospective cohort study was conducted on clinical data of 125 patients diagnosed with repeated implantation failure in Gansu Maternal and Child Health Hospital from January 2018 to December 2022.According to whether endometrial receptivity testing was accepted and different detection techniques were used,they were divided into a control group(n=36),a genomic group(n=35),and a histological group(n=54).The clinical data and pregnancy outcomes of the three groups were compared.Results:①The results of one-way ANOVA showed that the embryo implantation rate in the genomic group and histological group was significantly higher than that in the control group,and the difference was statistically significant(P＜0.05).There was no sta-tistically significant difference in embryo implantation rate between genomic and histological groups(P=0.48).②There was no statistically significant difference in clinical pregnancy rate and live birth rate among the three groups(P＞0.05).③Log rank test showed:The time for 50％of patients to reach live labor was significantly shorter than that of the control group,and the difference was statistically significant(P＜0.05);There was no sta-tistically significant difference in the time to live birth in 50％of patients between the genomic and histological groups of 50％of patients(P＞0.05).④The average number of embryos transferred in the control group was significantly higher than that in the genomic and histological groups,with statistical significance(P＜0.05).The cost of genomic patients was significantly higher than that of histology group,and the difference was statistically significant(P＜0.05).Conclusions:①Endometrial implantation window detection is feasible for patients with re-peated implantation failure,which can effectively shorten the time to live birth and reduce the number of transplan-ted embryos;②Both ERA sequencing and endometrial histology detection have limitations as methods to evaluate endometrial implantation window,and it is not clear which detection method has more advantages in accuracy and practicability.