1.Bibliometric analysis and reflections on the current status of traditional Chinese medicine systematic reviews and Meta-analysis in the past decade
Jiaying WANG ; Yi ZHAO ; Ru DUAN ; Jingting LIU ; Yun WU ; Jisheng ZHANG ; Xuemei XIANG ; Yifei GU ; Yu TIAN ; Yawen CAO ; Bin LI ; Xianliang WANG ; Jingyuan MAO
Chinese Journal of Pharmacoepidemiology 2025;34(1):57-68
Objective To understand the current status of traditional Chinese medicine(TCM)systematic reviews/Meta-analysis over the past 10 years.Methods Cochrane Database of Systematic Reviews,PubMed,Web of Knowledge,CNKI,SinoMed,WanFang Data,VIP databases,as well as the Cochrane Register and PROSPERO registration platform were searched to collect TCM-related systematic reviews/Meta-analysis published between January 2015 and December 2024.Literature was screened,and standardization of institutions,countries,and journals was performed.Data cleaning was conducted,and trends in publication years,high-frequency diseases,journals,institutions,and highly cited papers were analyzed.Results A total of 11,174 papers were included,involving approximately 56,656 authors from 1,422 institutions across 44 countries,covering 1,300 journals and 1,070 diseases.The top five institutions in terms of publications were Beijing University of Chinese Medicine(954 papers),Guangzhou University of Chinese Medicine(928 papers),China Academy of Chinese Medical Sciences(537 papers),Tianjin University of Chinese Medicine(460 papers),and Chengdu University of Chinese Medicine(393 papers).Foreign institutions with the highest publication volumes were concentrated in South Korea,Iran,and Australia.The most frequently published Chinese journal was Zhongyi Clinical Research with 332 papers,while the most published English journal was Evidence-Based Complementary and Alternative Medicine with 311 papers.There were 282 single-author papers involving 271 authors,and the most cited paper was referenced 323 times,The three most frequently studied diseases were diabetes(267 papers,2.39%),angina pectoris(214 papers,1.92%),and osteoarthritis(210 papers,1.88%).Non-pharmacological interventions such as acupuncture(1,265 papers,11.32%),auricular therapy(101 papers,0.90%),and Tai Chi(98 papers,0.88%)were most frequently reported.In pharmacological interventions,studies on Tripterygium wilfordii tablets(76 papers,0.68%)and Danhong injection(54 papers,0.48%)were more common.Conclusion The systematic reviews/Meta-analysis method is widely used in the field of TCM,and the field continues to grow.Active academic teams,institutions,and journals have emerged.Over the past decade,there has been a considerable body of evidence in Chinese systematic reviews on TCM for chronic diseases such as diabetes,angina pectoris,and osteoarthritis.In English-language studies,non-pharmacological therapies like acupuncture have been more widely reported,and some high-impact studies have emerged.However,challenges remain,such as issues with research transparency and methodological standardization.Future efforts should focus on establishing transparent systems and quality control mechanisms to further enhance the reliability,accuracy,and dissemination of TCM evidence-based research.
2.Bibliometric analysis and reflections on the current status of traditional Chinese medicine systematic reviews and Meta-analysis in the past decade
Jiaying WANG ; Yi ZHAO ; Ru DUAN ; Jingting LIU ; Yun WU ; Jisheng ZHANG ; Xuemei XIANG ; Yifei GU ; Yu TIAN ; Yawen CAO ; Bin LI ; Xianliang WANG ; Jingyuan MAO
Chinese Journal of Pharmacoepidemiology 2025;34(1):57-68
Objective To understand the current status of traditional Chinese medicine(TCM)systematic reviews/Meta-analysis over the past 10 years.Methods Cochrane Database of Systematic Reviews,PubMed,Web of Knowledge,CNKI,SinoMed,WanFang Data,VIP databases,as well as the Cochrane Register and PROSPERO registration platform were searched to collect TCM-related systematic reviews/Meta-analysis published between January 2015 and December 2024.Literature was screened,and standardization of institutions,countries,and journals was performed.Data cleaning was conducted,and trends in publication years,high-frequency diseases,journals,institutions,and highly cited papers were analyzed.Results A total of 11,174 papers were included,involving approximately 56,656 authors from 1,422 institutions across 44 countries,covering 1,300 journals and 1,070 diseases.The top five institutions in terms of publications were Beijing University of Chinese Medicine(954 papers),Guangzhou University of Chinese Medicine(928 papers),China Academy of Chinese Medical Sciences(537 papers),Tianjin University of Chinese Medicine(460 papers),and Chengdu University of Chinese Medicine(393 papers).Foreign institutions with the highest publication volumes were concentrated in South Korea,Iran,and Australia.The most frequently published Chinese journal was Zhongyi Clinical Research with 332 papers,while the most published English journal was Evidence-Based Complementary and Alternative Medicine with 311 papers.There were 282 single-author papers involving 271 authors,and the most cited paper was referenced 323 times,The three most frequently studied diseases were diabetes(267 papers,2.39%),angina pectoris(214 papers,1.92%),and osteoarthritis(210 papers,1.88%).Non-pharmacological interventions such as acupuncture(1,265 papers,11.32%),auricular therapy(101 papers,0.90%),and Tai Chi(98 papers,0.88%)were most frequently reported.In pharmacological interventions,studies on Tripterygium wilfordii tablets(76 papers,0.68%)and Danhong injection(54 papers,0.48%)were more common.Conclusion The systematic reviews/Meta-analysis method is widely used in the field of TCM,and the field continues to grow.Active academic teams,institutions,and journals have emerged.Over the past decade,there has been a considerable body of evidence in Chinese systematic reviews on TCM for chronic diseases such as diabetes,angina pectoris,and osteoarthritis.In English-language studies,non-pharmacological therapies like acupuncture have been more widely reported,and some high-impact studies have emerged.However,challenges remain,such as issues with research transparency and methodological standardization.Future efforts should focus on establishing transparent systems and quality control mechanisms to further enhance the reliability,accuracy,and dissemination of TCM evidence-based research.
3.Role of senescent genes in the treatment,prognosis and tumor microenvironment for osteosarcoma
Tian-Bo XU ; De-Guo LIU ; Zeng-Hui GU ; Yu-Xiang ZHENG ; Zhen-Hai HOU
Medical Journal of Chinese People's Liberation Army 2024;49(5):557-569
Objective To analyze and verify the role of senescent genes in the treatment,prognosis,and tumor microenvironment(TME)characteristics of osteoblastic osteosarcoma,bioinformatic methods were employed.Methods Senescent genes were obtained from the China National Genome Science database(https://ngdc.cncb.ac.cn/aging/index).The gene expression profile and clinical information of osteosarcoma patients were sourced from the TARGET database(https://ocg.cancer.gov/programs/target),while single-cell RNA-sequencing(scRNA-seq)data was collected from GSE162454 on the Gene Expression Omnibus(GEO)for downstream analysis.Osteosarcoma cells were classified based on scRNA-seq,and differential expression analysis between osteoblasts/chondroblasts and other cell types was conducted to identify differently expressed genes(DEGs).After matching with the senescent genes,prognostic senescent DEGs were identified through univariable and multivariable Cox regression analysis.Subsequently,the osteosarcoma senescent-related model(OSRM)was constructed,and the risk score was calculated.The role of OSRM in treatment,prognosis,and TME of osteosarcoma was further investigated.Results The analysis revealed that GSE162454 contained 6 osteosarcoma samples,with 19933 cells identified after filtering,quality control,and normalization.Seventeen cellular subtypes were identified using uniform manifold approximation and projection(UMAP)methods.A total of 4821 DEGs were found between osteoblasts/chondroblasts and other subtypes,with 132 senescent DEGs obtained after matching with the senescent gene set.In the TARGET database,4 prognostic senescent DEGs[ADH5(alcohol dehydrogenase 5),ARHGAP1(Rho GTPase activating protein 1),APOE(apolipoprotein E),and ATF4(activating transcription factor 4)]were identified through univariable and multivariable Cox analyses to construct OSRM.Based on risk score,patients were stratified into high-and low-risk groups,with the latter showing better prognosis(HR=0.13,95%CI 0.06-0.28,P<0.001)and higher sensitivity to immune checkpoint inhibitors.qRT-PCR and Western blotting confirmed the high expression of senescent genes ADH5(P<0.01),APOE(P<0.01),and ATF4(P<0.05)in the K7M2 osteosarcoma cell line,suggesting the potential for predicting the response to anti-PD-1 immunotherapy for osteosarcoma.Conclusions scRNA-seq facilitated the division of osteosarcoma into 17 cell subtypes.ADH5,ARHGAP1,APOE,and ATF4 emerged as potential cancer-promoting or suppressing senescent genes in osteosarcoma.OSRM was found to be associated with treatment response,prognosis,and TME characteristics,thereby promoting the molecular pathological diagnosis of osteoblastic osteosarcoma and prediction for anti-PD-1 immunotherapy.
4.Relationship between white blood cell count and clinical classification in patients with coronary heart disease
Chaohui TANG ; Xiang PENG ; Jinwei TIAN ; Xia GU
Chinese Journal of Arteriosclerosis 2024;32(12):1051-1056
Aim To study the relationship between white blood cell count and clinical classification in patients with coronary heart disease and its clinical significance.Methods A total of 301 patients diagnosed with coronary heart disease in the Second Affiliated Hospital of Harbin Medical University from January 2022 to December 2023 were se-lected as the research subjects,and divided into stable angina pectoris(SAP)group and acute coronary syndrome(ACS)group based on their clinical manifestations and results of electrocardiogram,the differences of general data,biochemical indexes and cardiovascular indexes between the two groups were compared.Spearman correlation analysis was used to an-alyze the relationship between white blood cell count,neutrophil count and cardiovascular related indicators,including tro-ponin Ⅰ,N-terminal pro-brain natriuretic peptide(NT-proBNP),ejection fraction,left ventricular end-diastolic diameter(LVEDD),left atrial diameter,Gensini score,etc.ROC curve was employed to determine the cut-off point for diagno-sing ACS and SAP classification of coronary heart disease based on white blood cell count,and dividing patients into a group with normal white blood cell level and a group with above normal white blood cell level based on this cut-off point,the differences between the two groups were compared.Results The ratio of hyperlipidaemia history,white blood cell count,neutrophil count,C-reactive protein,platelet count,total cholesterol(TC),low density lipoprotein cholesterol(LDLC),troponin 1,NT-proBNP and Gensini score in the ACS group were significantly higher than those in the SAP group(all P<0.05),while the ratio of aspirin use,the ratio of statin use,and ejection fraction in the ACS group were low-er than those in the SAP group(all P<0.05).Spearman correlation analysis results showed that white blood cell count was positively correlated with C-reactive protein(r=0.443,P<0.001),troponin Ⅰ(r=0.333,P<0.001),NT-proBNP(r=0.245,P<0.001)and Gensini score(r=0.341,P<0.001),but negatively correlated with LVEDD(r=-0.212,P<0.001).Similarly,neutrophil count was positively correlated with C-reactive protein(r=0.430,P<0.001),troponin Ⅰ(r=0.325,P<0.001),NT-proBNP(r=0.292,P<0.001)and Gensini score(r=0.353,P<0.001),but negatively correlated with LVEDD(r=-0.175,P=0.002).The cut-off point of white blood cell count in the diagnosis of ACS was 9.35×109 L-1(sensitivity was 56.7%,specificity was 93.1%).The patients were divided into normal white blood cell level group(n=202)and above normal white blood cell level group(n=99).Hyperlipidemia,smoking history,TC,LDLC,C-reactive protein,troponin Ⅰ,NT-proBNP and Gensini scores in above normal white blood cell level group were significantly higher than those in the normal white blood cell level group(all P<0.05),while LVEDD was lower than that in the normal white blood cell level group(all P<0.05).Conclusion White blood cell count can easily identify the high-risk type of coronary heart disease,and the cut-off point for the diagnosis of ACS is 9.35×109 L-1.
5.Establishment of mice gait analysis system based on DeepLabCut algorithm to evaluate motor function of aging mice
Zhi-Hong LI ; Yi-Hua SHENG ; You LI ; Zhi-Xiang PENG ; Xing-Yao ZENG ; Xin-Li GU ; Jia-Yi TIAN ; Si-Di LI
Chinese Pharmacological Bulletin 2024;40(9):1792-1799
Aim To establish a gait analysis system based on DeepLabCut(DLC)algorithm for evaluating motor function in aged mice.Methods Based on DLC algorithm in deep learning technology,treadmill device and fully closed design were used in the system,including software and hardware.This system was applied to evaluate gait characteristics of mice due to aging un-der different movement modes.Correlation analysis was used to explore the effects of body weight and body length on gait indica-tors.Results This system realized the synchronous analysis of three-dimensional gait(lateral and ventral plane)of mice at specific gait speed,and automatically quantified 47 gait indica-tors.Using this system,it was found that during walking(15 cm·s-1),the standard deviation of body turning angle decreased,forelimb sway duration,standard deviation of knee angle,mean outward angles of left and right hind paw increased in 8 and 15 month-old mice,compared with 2-month-old mice.However,15-month-old mice showed decreased walking frequency,and in-creased stride width,total duration of double support,and knee extension and contraction distance.In addition,at trot(20 cm·s-1),15-month-old mice were unable to walk steadily,and 8-month-old mice had increased total duration of double support and mean outward angles of left hind paw,compared with 2-month-old mice.Correlation analysis revealed that indicators like walking frequency,stride width,forelimb sway duration,total duration of double support,standard deviation of knee an-gle,knee extension and contraction distance,were not affected by changes in body weight and body length.Conclusions The gait analysis system based on DLC algorithm can achieve a more sensitive,accurate and comprehensive evaluation of the gait of aged mice,distinguishing the gait characteristics of aged mice to maintain gait stability,and selecting behavioral indicators that better reflect the gait changes of aged mice.It provides a meth-odological basis for more effective assessment of efficacy and side effects of drugs for anti-aging and anti-decline of motor coordina-tion in the future.
6.Relationship between white blood cell count and clinical classification in patients with coronary heart disease
Chaohui TANG ; Xiang PENG ; Jinwei TIAN ; Xia GU
Chinese Journal of Arteriosclerosis 2024;32(12):1051-1056
Aim To study the relationship between white blood cell count and clinical classification in patients with coronary heart disease and its clinical significance.Methods A total of 301 patients diagnosed with coronary heart disease in the Second Affiliated Hospital of Harbin Medical University from January 2022 to December 2023 were se-lected as the research subjects,and divided into stable angina pectoris(SAP)group and acute coronary syndrome(ACS)group based on their clinical manifestations and results of electrocardiogram,the differences of general data,biochemical indexes and cardiovascular indexes between the two groups were compared.Spearman correlation analysis was used to an-alyze the relationship between white blood cell count,neutrophil count and cardiovascular related indicators,including tro-ponin Ⅰ,N-terminal pro-brain natriuretic peptide(NT-proBNP),ejection fraction,left ventricular end-diastolic diameter(LVEDD),left atrial diameter,Gensini score,etc.ROC curve was employed to determine the cut-off point for diagno-sing ACS and SAP classification of coronary heart disease based on white blood cell count,and dividing patients into a group with normal white blood cell level and a group with above normal white blood cell level based on this cut-off point,the differences between the two groups were compared.Results The ratio of hyperlipidaemia history,white blood cell count,neutrophil count,C-reactive protein,platelet count,total cholesterol(TC),low density lipoprotein cholesterol(LDLC),troponin 1,NT-proBNP and Gensini score in the ACS group were significantly higher than those in the SAP group(all P<0.05),while the ratio of aspirin use,the ratio of statin use,and ejection fraction in the ACS group were low-er than those in the SAP group(all P<0.05).Spearman correlation analysis results showed that white blood cell count was positively correlated with C-reactive protein(r=0.443,P<0.001),troponin Ⅰ(r=0.333,P<0.001),NT-proBNP(r=0.245,P<0.001)and Gensini score(r=0.341,P<0.001),but negatively correlated with LVEDD(r=-0.212,P<0.001).Similarly,neutrophil count was positively correlated with C-reactive protein(r=0.430,P<0.001),troponin Ⅰ(r=0.325,P<0.001),NT-proBNP(r=0.292,P<0.001)and Gensini score(r=0.353,P<0.001),but negatively correlated with LVEDD(r=-0.175,P=0.002).The cut-off point of white blood cell count in the diagnosis of ACS was 9.35×109 L-1(sensitivity was 56.7%,specificity was 93.1%).The patients were divided into normal white blood cell level group(n=202)and above normal white blood cell level group(n=99).Hyperlipidemia,smoking history,TC,LDLC,C-reactive protein,troponin Ⅰ,NT-proBNP and Gensini scores in above normal white blood cell level group were significantly higher than those in the normal white blood cell level group(all P<0.05),while LVEDD was lower than that in the normal white blood cell level group(all P<0.05).Conclusion White blood cell count can easily identify the high-risk type of coronary heart disease,and the cut-off point for the diagnosis of ACS is 9.35×109 L-1.
7.Establishment of leukemia cell model with inducible AML1-ETO expression and its effect on fatty acid metabolism in leukemia cells.
Wan Qing XIE ; Xue YANG ; Run Xia GU ; Zheng TIAN ; Hai Yan XING ; Ke Jing TANG ; Qing RAO ; Shao Wei QIU ; Min WANG ; Jian Xiang WANG
Chinese Journal of Hematology 2023;44(5):366-372
Objective: To investigate the effect of the AML1-ETO (AE) fusion gene on the biological function of U937 leukemia cells by establishing a leukemia cell model that induces AE fusion gene expression. Methods: The doxycycline (Dox) -dependent expression of the AE fusion gene in the U937 cell line (U937-AE) were established using a lentivirus vector system. The Cell Counting Kit 8 methods, including the PI and sidanilide induction, were used to detect cell proliferation, cell cycle-induced differentiation assays, respectively. The effect of the AE fusion gene on the biological function of U937-AE cells was preliminarily explored using transcriptome sequencing and metabonomic sequencing. Results: ①The Dox-dependent Tet-on regulatory system was successfully constructed to regulate the stable AE fusion gene expression in U937-AE cells. ②Cell proliferation slowed down and the cell proliferation rate with AE expression (3.47±0.07) was lower than AE non-expression (3.86 ± 0.05) after inducing the AE fusion gene expression for 24 h (P<0.05). The proportion of cells in the G(0)/G(1) phase in the cell cycle increased, with AE expression [ (63.45±3.10) %) ] was higher than AE non-expression [ (41.36± 9.56) %] (P<0.05). The proportion of cells expressing CD13 and CD14 decreased with the expression of AE. The AE negative group is significantly higher than the AE positive group (P<0.05). ③The enrichment analysis of the transcriptome sequencing gene set revealed significantly enriched quiescence, nuclear factor kappa-light-chain-enhancer of activated B cells, interferon-α/γ, and other inflammatory response and immune regulation signals after AE expression. ④Disorder of fatty acid metabolism of U937-AE cells occurred under the influence of AE. The concentration of the medium and short-chain fatty acid acylcarnitine metabolites decreased in cells with AE expressing, propionyl L-carnitine, wherein those with AE expression (0.46±0.13) were lower than those with AE non-expression (1.00±0.27) (P<0.05). The metabolite concentration of some long-chain fatty acid acylcarnitine increased in cells with AE expressing tetradecanoyl carnitine, wherein those with AE expression (1.26±0.01) were higher than those with AE non-expression (1.00±0.05) (P<0.05) . Conclusion: This study successfully established a leukemia cell model that can induce AE expression. The AE expression blocked the cell cycle and inhibited cell differentiation. The gene sets related to the inflammatory reactions was significantly enriched in U937-AE cells that express AE, and fatty acid metabolism was disordered.
Humans
;
U937 Cells
;
RUNX1 Translocation Partner 1 Protein
;
Leukemia/genetics*
;
Core Binding Factor Alpha 2 Subunit/genetics*
;
Oncogene Proteins, Fusion/genetics*
;
Leukemia, Myeloid, Acute/genetics*
8.Expert consensus on the prevention and treatment of adverse reactions in subcutaneous immunotherapy(2023, Chongqing).
Yu Cheng YANG ; Yang SHEN ; Xiang Dong WANG ; Yan JIANG ; Qian Hui QIU ; Jian LI ; Shao Qing YU ; Xia KE ; Feng LIU ; Yuan Teng XU ; Hong Fei LOU ; Hong Tian WANG ; Guo Dong YU ; Rui XU ; Juan MENG ; Cui Da MENG ; Na SUN ; Jian Jun CHEN ; Ming ZENG ; Zhi Hai XIE ; Yue Qi SUN ; Jun TANG ; Ke Qing ZHAO ; Wei Tian ZHANG ; Zhao Hui SHI ; Cheng Li XU ; Yan Li YANG ; Mei Ping LU ; Hui Ping YE ; Xin WEI ; Bin SUN ; Yun Fang AN ; Ya Nan SUN ; Yu Rong GU ; Tian Hong ZHANG ; Luo BA ; Qin Tai YANG ; Jing YE ; Yu XU ; Hua Bin LI
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2023;58(7):643-656
9.Systematic Evaluation and Meta-Analysis of the Effect of Gynostemma pentaphyllum on Clinical Indexes of Hyperlipidemia
Hao-Tian LUO ; Man-Yu XIAO ; Wen-Jing PEI ; Kang-Le BI ; Peng XIE ; Yu-Long GU ; Xiang-Lan PIAO
Natural Product Sciences 2023;29(4):251-262
The purpose of this study was to explore the clinical efficacy and safety of Gynostemma pentaphyllum (G. pentaphyllum) in the treatment of hyperlipidemia, and to provide systematic evaluation basis for clinical application. CNKI, Wanfang Data, VIP, Web of science, PubMed, Embase and Cochrane Library were searched for randomized controlled trials (RCTs) about G. pentaphyllum in the treatment of hyperlipidemia. Review Manager 5.4 were used for statistical analysis. Through reading topics, abstracts, and full texts, 27 papers with 2311 cases involved that met the inclusion and exclusion criteria were finally included for the analysis. In terms of curative effect, the effect of G. pentaphyllum alone in increasing high density lipoprotein (HDL) index was better than that of conventional treatment, and the effect of reducing total cholesterol (TC), triglyceride (TG) and low density lipoprotein (LDL) was similar to that of conventional treatment. There was a synergistic effect between G. pentaphyllum and conventional drugs, and the combination of G. pentaphyllum and conventional drugs was superior to conventional treatment in reducing TG and increasing HDL. G. pentaphyllum can also decrease the levels of serum glutamic pyruvic transaminase and glutamic oxaloacetic transaminase in the treatment of hyperlipidemia, indicating a certain protective function of the liver. In terms of safety, there were fewer cases of adverse reactions in the G. pentaphyllum treatment group, and the adverse reaction events reported in the literature was mild. According to the results of meta-analysis, G. pentaphyllum was effective in the treatment of hyperlipidemia, and it has the potential to be combined with traditional drugs, has a certain liver protection function, and was superior to traditional drugs in the treatment of hyperlipidemia.
10.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
;
Child
;
China/epidemiology*
;
Cryptorchidism/genetics*
;
Disorders of Sex Development/genetics*
;
Female
;
Genital Diseases, Male
;
Genotype
;
Humans
;
Hypospadias/genetics*
;
Male
;
Membrane Proteins/genetics*
;
Penis/abnormalities*
;
Phenotype
;
Retrospective Studies
;
Steroid 21-Hydroxylase/genetics*

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