Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)has been detected in the blood,urine,facial/anal swabs,semen,and vaginal discharge;all have been shown to contain SARSCoV-2 RNA.Recent findings have highlight...Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)has been detected in the blood,urine,facial/anal swabs,semen,and vaginal discharge;all have been shown to contain SARSCoV-2 RNA.Recent findings have highlighted the prospect of SARS-CoV-2 invading the genital system in addition to other tissues,which might give rise to reproductive concerns.This investigation sheds light on male reproductive tract vulnerability to invasion by SARS-CoV-2 and provides a foundation for further researches into male fertility.Males are infected with COVID-19 at a higher rate than females.As a result,some data suggest that this viral infection might affect the male reproductive system.The probable causes for male genital tract abnormalities in COVID19 are:(1)high expression of angiotensin-converting enzyme 2 in the testes;(2)SARS-CoV-2 infection indirectly induces immune response in the testes;(3)SARS-CoV-2 directly damages male genital cells by virus-receptor binding activity;(4)fever in SARSCoV-2 infected males may cause damages to testicular cells;(5)testosterone level decreased in SAR-CoV-2 infected males;(6)males are more susceptible to COVID-19 than females,which may be due to differences in the physiology of the genital tract.This review seeks to offer some insights into the potential causes of COVID-19 that affect the male reproductive system,as well as future prospect on this issue.展开更多
Importance:This study investigated the role of the chromodomain helicase DNA-binding protein 7(CHD7)in disorders of sex development(DSD).Objective:We aimed to present the potential pathogenicity of CHD7 variants in pe...Importance:This study investigated the role of the chromodomain helicase DNA-binding protein 7(CHD7)in disorders of sex development(DSD).Objective:We aimed to present the potential pathogenicity of CHD7 variants in pediatric patients with DSD.Methods:Choosing cases with CHD7 variants from DSD patients in Beijing Children’s Hospital to assess for the study.Prediction software tools were used to predict variant pathogenicity in these subjects.results:Among the 113 DSD patients,22 cases had CHD7 variants.Twenty-four different CHD7 variants were identified in the 22 DSD patients.Prediction software combined with ClinVar database information and their clinical manifestations revealed that,of the 18 patients with 46,XY DSD,two had CHARGE syndrome and two had Kallmann syndrome.Seven of the variants were highly categorized as“likely to be pathogenic”and seven as“suspected to be pathogenic”.Of the four patients with 46,XX DSD,three had ovotesticular DSD(c.305A>G,c.2788G>A,and c.3098G>A)and one had testicular DSD(c.2831G>A).Interpretation:A high frequency of CHD7 variants was found in the DSD patients,especially those with 46,XY DSD.Thus,the detection of a pathogenic CHD7 variant could suggest a diagnosis of hypogonadotropic hypogonadism for 46,XY DSD patients,but pre-pubescent patients should be reassessed in adolescence to confirm this diagnosis.This study also suggests that DNA sequencing could help to identify pre-pubescent DSD patients.Further data are required to determine the connection between CHD7 variants and sex-reversal in patients with 46,XX DSD,and the accumulation of these data is essential and necessary for DSD research.展开更多
文摘Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)has been detected in the blood,urine,facial/anal swabs,semen,and vaginal discharge;all have been shown to contain SARSCoV-2 RNA.Recent findings have highlighted the prospect of SARS-CoV-2 invading the genital system in addition to other tissues,which might give rise to reproductive concerns.This investigation sheds light on male reproductive tract vulnerability to invasion by SARS-CoV-2 and provides a foundation for further researches into male fertility.Males are infected with COVID-19 at a higher rate than females.As a result,some data suggest that this viral infection might affect the male reproductive system.The probable causes for male genital tract abnormalities in COVID19 are:(1)high expression of angiotensin-converting enzyme 2 in the testes;(2)SARS-CoV-2 infection indirectly induces immune response in the testes;(3)SARS-CoV-2 directly damages male genital cells by virus-receptor binding activity;(4)fever in SARSCoV-2 infected males may cause damages to testicular cells;(5)testosterone level decreased in SAR-CoV-2 infected males;(6)males are more susceptible to COVID-19 than females,which may be due to differences in the physiology of the genital tract.This review seeks to offer some insights into the potential causes of COVID-19 that affect the male reproductive system,as well as future prospect on this issue.
文摘Importance:This study investigated the role of the chromodomain helicase DNA-binding protein 7(CHD7)in disorders of sex development(DSD).Objective:We aimed to present the potential pathogenicity of CHD7 variants in pediatric patients with DSD.Methods:Choosing cases with CHD7 variants from DSD patients in Beijing Children’s Hospital to assess for the study.Prediction software tools were used to predict variant pathogenicity in these subjects.results:Among the 113 DSD patients,22 cases had CHD7 variants.Twenty-four different CHD7 variants were identified in the 22 DSD patients.Prediction software combined with ClinVar database information and their clinical manifestations revealed that,of the 18 patients with 46,XY DSD,two had CHARGE syndrome and two had Kallmann syndrome.Seven of the variants were highly categorized as“likely to be pathogenic”and seven as“suspected to be pathogenic”.Of the four patients with 46,XX DSD,three had ovotesticular DSD(c.305A>G,c.2788G>A,and c.3098G>A)and one had testicular DSD(c.2831G>A).Interpretation:A high frequency of CHD7 variants was found in the DSD patients,especially those with 46,XY DSD.Thus,the detection of a pathogenic CHD7 variant could suggest a diagnosis of hypogonadotropic hypogonadism for 46,XY DSD patients,but pre-pubescent patients should be reassessed in adolescence to confirm this diagnosis.This study also suggests that DNA sequencing could help to identify pre-pubescent DSD patients.Further data are required to determine the connection between CHD7 variants and sex-reversal in patients with 46,XX DSD,and the accumulation of these data is essential and necessary for DSD research.
