Multiple morphological abnormalities of the sperm flagella(MMAF)are characterized by bent,irregular,short,coiled,and absent flagella.MMAF is caused by a variety of genes,some of which have been identified.However,the ...Multiple morphological abnormalities of the sperm flagella(MMAF)are characterized by bent,irregular,short,coiled,and absent flagella.MMAF is caused by a variety of genes,some of which have been identified.However,the underlying genetic factors responsible for the majority of MMAF cases are still largely unknown.The glutamine-rich 2(QRICH2)gene plays an essential role in the development of sperm flagella by regulating the expression of essential sperm flagellar biogenesis-associated proteins,and genetic variants of QRICH2 have been identified as the primary cause of MMAF in humans and mice.Here,we recruited a Pakistani consanguineous family to identify the genetic variant causing infertility in patients with MMAF.Whole-exome sequencing and Sanger sequencing were conducted to identify potentially pathogenic variants causing MMAF in infertile patients.Hematoxylin and eosin(HE)staining was performed to analyze sperm morphology.Quantitative polymerase chain reaction,western blot,and immunofluorescence staining analyses were conducted to observe the expression of QRICH2 in spermatozoa.A novel homozygous missense variant(c.4618C>T)in QRICH2 was identified in the affected patients.Morphological analysis of spermatozoa revealed the MMAF phenotype in infertile patients.qPCR revealed a significant reduction in the level of sperm QRICH2 mRNA,and immunofluorescence staining revealed a lack of sperm QRICH2 expression.Additionally,patients harboring a homozygous QRICH2 mutation presented reduced expression of outer dense fiber 2(ODF2)in sperm,whereas sperm expression of A-kinase anchor protein 4(AKAP4)was normal.These findings expand our understanding of the genetic causes of MMAF-associated male infertility and emphasize the importance of genetic counseling.展开更多
目的探讨不孕症患者行宫腔镜子宫内膜息肉电切术(transcervical resection of polyp,TCRP)后妊娠结局的影响因素。方法回顾分析2021年3月至2022年3月442例TCRP术的不孕症合并子宫内膜息肉(endometrial polyp,EP)患者资料,术后随访12~24...目的探讨不孕症患者行宫腔镜子宫内膜息肉电切术(transcervical resection of polyp,TCRP)后妊娠结局的影响因素。方法回顾分析2021年3月至2022年3月442例TCRP术的不孕症合并子宫内膜息肉(endometrial polyp,EP)患者资料,术后随访12~24个月,分为术后妊娠组(妊娠组)及未妊娠组(对照组)。比较年龄、体质量指数(body mass index,BMI)、不孕类型、异常子宫出血、不良孕史、EP数量、EP大小、术中负压吸宫术、子宫内膜炎、TCRP术手术时间、宫腔深度,对不孕症患者TCRP术后妊娠结局的影响因素进行多因素分析。结果442例不孕症合并EP患者中,妊娠组274例(62.0%),对照组168例(38.0%);影响不孕症行TCRP术后妊娠的因素有年龄(OR=0.925,95%CI:0.881~0.972,P<0.05)、术前异常子宫出血(OR=0.646,95%CI:0.432~0.967,P<0.05)及原发不孕(OR=2.105,95%CI:1.295~3.423,P<0.05)。结论TCRP术后可以改善不孕症合并EP的妊娠结局,年龄和术前异常子宫出血是不孕症患者TCRP术后提高妊娠的保护因素;原发不孕是不孕症患者TCRP术后妊娠的危险因素。展开更多
Objective:Endometrial tuberculosis,which commonly affects women of reproductive age,is a significant cause of intrauterine adhesions(IUA),potentially leading to hypomenorrhea,amenorrhea,and infertility.Hysteroscopic a...Objective:Endometrial tuberculosis,which commonly affects women of reproductive age,is a significant cause of intrauterine adhesions(IUA),potentially leading to hypomenorrhea,amenorrhea,and infertility.Hysteroscopic adhesiolysis is the primary treatment for IUA;however,studies specifically addressing its efficacy in tuberculosisinduced IUA remain scarce.This study aims to evaluate the therapeutic outcomes of hysteroscopic adhesiolysis for IUA caused by endometrial tuberculosis.Methods:This retrospective cohort study included patients diagnosed with tuberculosisinduced IUA who underwent hysteroscopic adhesiolysis at the Third Xiangya Hospital of Central South University between May 2014 and October 2022.Clinical data including age,medical history,adhesion severity,surgical treatment,and reproductive outcomes were analyzed.Results:Among 39 patients identified,2 were lost to follow-up.A total of 37 patients were included,with a follow-up duration ranging from 6 months to 9 years.Hypomenorrhea was reported in 24(64.9%)patients,secondary amenorrhea in 10(27.0%)patients,and normal menstruation in 3(8.1%)patients.Most patients presented with primary infertility(59.5%),and only 2(5.4%)had secondary infertility.The median American Fertility Society(AFS)score at initial assessment was 10(range,8−12);8(21.6%)patients had moderate IUA,and 29(78.4%)had severe IUA.A total of 86 surgical procedures were performed across 37 patients,with 27 patients undergoing 2 or more surgeries.Postoperatively,25(67.6%)patients achieved normalization of the uterine cavity,while 12(32.4%)still had a reduced cavity.Only 7(18.9%)patients had a grossly normal endometrium at the final surgery,all of whom had moderate adhesions at the initial procedure.Menstrual flow returned to normal in 12(32.4%)patients,while 25(67.6%)continued to experience hypomenorrhea.Of 29 patients who attempted in vitro fertilization and embryo transfer(IVF-ET),only 6(20.7%)conceived.Among these,4(13.8%)delivered at term via cesarean section;one case was complicated by postpartum hemorrhage due to uterine atony and another by placental adhesion.Conclusion:Endometrial tuberculosis can lead to severe IUA.Hysteroscopic adhesiolysis facilitates cavity restoration and improvement of menstrual conditions,but the overall reproductive outcomes remain suboptimal.展开更多
基金supported by the National Key Research and Development Program of China(2021YFC2700202,2022YFA0806303 and 2022YFC2702601)the Global Select Project of the Institute of Health and Medicine,Hefei Comprehensive National Science Center(DJK-LX-2022010)+1 种基金USTC Research Funds of the Double First-Class Initiative(the Joint Fund for New Medicine of USTC)(YD9100002034)the Fundamental Research Funds for the Central Universities(WK9100000004).
文摘Multiple morphological abnormalities of the sperm flagella(MMAF)are characterized by bent,irregular,short,coiled,and absent flagella.MMAF is caused by a variety of genes,some of which have been identified.However,the underlying genetic factors responsible for the majority of MMAF cases are still largely unknown.The glutamine-rich 2(QRICH2)gene plays an essential role in the development of sperm flagella by regulating the expression of essential sperm flagellar biogenesis-associated proteins,and genetic variants of QRICH2 have been identified as the primary cause of MMAF in humans and mice.Here,we recruited a Pakistani consanguineous family to identify the genetic variant causing infertility in patients with MMAF.Whole-exome sequencing and Sanger sequencing were conducted to identify potentially pathogenic variants causing MMAF in infertile patients.Hematoxylin and eosin(HE)staining was performed to analyze sperm morphology.Quantitative polymerase chain reaction,western blot,and immunofluorescence staining analyses were conducted to observe the expression of QRICH2 in spermatozoa.A novel homozygous missense variant(c.4618C>T)in QRICH2 was identified in the affected patients.Morphological analysis of spermatozoa revealed the MMAF phenotype in infertile patients.qPCR revealed a significant reduction in the level of sperm QRICH2 mRNA,and immunofluorescence staining revealed a lack of sperm QRICH2 expression.Additionally,patients harboring a homozygous QRICH2 mutation presented reduced expression of outer dense fiber 2(ODF2)in sperm,whereas sperm expression of A-kinase anchor protein 4(AKAP4)was normal.These findings expand our understanding of the genetic causes of MMAF-associated male infertility and emphasize the importance of genetic counseling.
文摘目的探讨不孕症患者行宫腔镜子宫内膜息肉电切术(transcervical resection of polyp,TCRP)后妊娠结局的影响因素。方法回顾分析2021年3月至2022年3月442例TCRP术的不孕症合并子宫内膜息肉(endometrial polyp,EP)患者资料,术后随访12~24个月,分为术后妊娠组(妊娠组)及未妊娠组(对照组)。比较年龄、体质量指数(body mass index,BMI)、不孕类型、异常子宫出血、不良孕史、EP数量、EP大小、术中负压吸宫术、子宫内膜炎、TCRP术手术时间、宫腔深度,对不孕症患者TCRP术后妊娠结局的影响因素进行多因素分析。结果442例不孕症合并EP患者中,妊娠组274例(62.0%),对照组168例(38.0%);影响不孕症行TCRP术后妊娠的因素有年龄(OR=0.925,95%CI:0.881~0.972,P<0.05)、术前异常子宫出血(OR=0.646,95%CI:0.432~0.967,P<0.05)及原发不孕(OR=2.105,95%CI:1.295~3.423,P<0.05)。结论TCRP术后可以改善不孕症合并EP的妊娠结局,年龄和术前异常子宫出血是不孕症患者TCRP术后提高妊娠的保护因素;原发不孕是不孕症患者TCRP术后妊娠的危险因素。
基金supported by the Wisdom Accumulation and Talent Cultivation Project of Third Xiangya Hosipital of Central South University,China(YX202112).
文摘Objective:Endometrial tuberculosis,which commonly affects women of reproductive age,is a significant cause of intrauterine adhesions(IUA),potentially leading to hypomenorrhea,amenorrhea,and infertility.Hysteroscopic adhesiolysis is the primary treatment for IUA;however,studies specifically addressing its efficacy in tuberculosisinduced IUA remain scarce.This study aims to evaluate the therapeutic outcomes of hysteroscopic adhesiolysis for IUA caused by endometrial tuberculosis.Methods:This retrospective cohort study included patients diagnosed with tuberculosisinduced IUA who underwent hysteroscopic adhesiolysis at the Third Xiangya Hospital of Central South University between May 2014 and October 2022.Clinical data including age,medical history,adhesion severity,surgical treatment,and reproductive outcomes were analyzed.Results:Among 39 patients identified,2 were lost to follow-up.A total of 37 patients were included,with a follow-up duration ranging from 6 months to 9 years.Hypomenorrhea was reported in 24(64.9%)patients,secondary amenorrhea in 10(27.0%)patients,and normal menstruation in 3(8.1%)patients.Most patients presented with primary infertility(59.5%),and only 2(5.4%)had secondary infertility.The median American Fertility Society(AFS)score at initial assessment was 10(range,8−12);8(21.6%)patients had moderate IUA,and 29(78.4%)had severe IUA.A total of 86 surgical procedures were performed across 37 patients,with 27 patients undergoing 2 or more surgeries.Postoperatively,25(67.6%)patients achieved normalization of the uterine cavity,while 12(32.4%)still had a reduced cavity.Only 7(18.9%)patients had a grossly normal endometrium at the final surgery,all of whom had moderate adhesions at the initial procedure.Menstrual flow returned to normal in 12(32.4%)patients,while 25(67.6%)continued to experience hypomenorrhea.Of 29 patients who attempted in vitro fertilization and embryo transfer(IVF-ET),only 6(20.7%)conceived.Among these,4(13.8%)delivered at term via cesarean section;one case was complicated by postpartum hemorrhage due to uterine atony and another by placental adhesion.Conclusion:Endometrial tuberculosis can lead to severe IUA.Hysteroscopic adhesiolysis facilitates cavity restoration and improvement of menstrual conditions,but the overall reproductive outcomes remain suboptimal.
