1.Association of Body Mass Index with All-Cause Mortality and Cause-Specific Mortality in Rural China: 10-Year Follow-up of a Population-Based Multicenter Prospective Study.
Juan Juan HUANG ; Yuan Zhi DI ; Ling Yu SHEN ; Jian Guo LIANG ; Jiang DU ; Xue Fang CAO ; Wei Tao DUAN ; Ai Wei HE ; Jun LIANG ; Li Mei ZHU ; Zi Sen LIU ; Fang LIU ; Shu Min YANG ; Zu Hui XU ; Cheng CHEN ; Bin ZHANG ; Jiao Xia YAN ; Yan Chun LIANG ; Rong LIU ; Tao ZHU ; Hong Zhi LI ; Fei SHEN ; Bo Xuan FENG ; Yi Jun HE ; Zi Han LI ; Ya Qi ZHAO ; Tong Lei GUO ; Li Qiong BAI ; Wei LU ; Qi JIN ; Lei GAO ; He Nan XIN
Biomedical and Environmental Sciences 2025;38(10):1179-1193
OBJECTIVE:
This study aimed to explore the association between body mass index (BMI) and mortality based on the 10-year population-based multicenter prospective study.
METHODS:
A general population-based multicenter prospective study was conducted at four sites in rural China between 2013 and 2023. Multivariate Cox proportional hazards models and restricted cubic spline analyses were used to assess the association between BMI and mortality. Stratified analyses were performed based on the individual characteristics of the participants.
RESULTS:
Overall, 19,107 participants with a sum of 163,095 person-years were included and 1,910 participants died. The underweight (< 18.5 kg/m 2) presented an increase in all-cause mortality (adjusted hazards ratio [ aHR] = 2.00, 95% confidence interval [ CI]: 1.66-2.41), while overweight (≥ 24.0 to < 28.0 kg/m 2) and obesity (≥ 28.0 kg/m 2) presented a decrease with an aHR of 0.61 (95% CI: 0.52-0.73) and 0.51 (95% CI: 0.37-0.70), respectively. Overweight ( aHR = 0.76, 95% CI: 0.67-0.86) and mild obesity ( aHR = 0.72, 95% CI: 0.59-0.87) had a positive impact on mortality in people older than 60 years. All-cause mortality decreased rapidly until reaching a BMI of 25.7 kg/m 2 ( aHR = 0.95, 95% CI: 0.92-0.98) and increased slightly above that value, indicating a U-shaped association. The beneficial impact of being overweight on mortality was robust in most subgroups and sensitivity analyses.
CONCLUSION
This study provides additional evidence that overweight and mild obesity may be inversely related to the risk of death in individuals older than 60 years. Therefore, it is essential to consider age differences when formulating health and weight management strategies.
Humans
;
Body Mass Index
;
China/epidemiology*
;
Male
;
Female
;
Middle Aged
;
Prospective Studies
;
Rural Population/statistics & numerical data*
;
Aged
;
Follow-Up Studies
;
Adult
;
Mortality
;
Cause of Death
;
Obesity/mortality*
;
Overweight/mortality*
2.CURRENT DISTRIBUTION OF AEDES AEGYPTI IN LEIZHOU PENINSULA,ZHANJIANG CITY,GUANGDONG PROVINCE
Rui-Peng LU ; Jin-Hua DUAN ; Yu-Wen ZHONG ; Hui DENG ; Jun WU ; Li-Ping LIU ; Wei-Xiong YIN ; Feng XING ; Hui HUANG ; Chang-Jie FU ; Zong-Jing CHEN ; Ming-Ji CHENG ; Sheng-Jun HU ; Ya-Ting CHEN ; Wen-Ting GUO ; Li-Feng LIN
Acta Parasitologica et Medica Entomologica Sinica 2025;32(1):16-21
Objective To investigate the status of population dynamics and distribution changes of Aedes aegypti in Guangdong Province.Methods Continuous monitoring was conducted from May 2018 to July 2024 in Wushi Town and Qishui Town,Leizhou City,Zhanjiang City,Guangdong Province.Additionally,a survey of the distribution of Ae.aegypti along the Leizhou Peninsula coast was carried out.Results The density of Ae.aegypti in Zhanjiang showed a gradual decline from 2018 to 2024.The last detection of adult Ae.aegypti in Wushi Town was in September 2021,and the last larva was found in October 2023.No Ae.aegypti was detected in Qishui Town during surveys from 2021 to 2024.A survey of 18 coastal villages in the Leizhou Peninsula revealed no detections of Ae.aegypti.Conclusions This study provides a basis for understanding the distribution and population density fluctuations of Ae.aegypti,assessing its invasion risk,and scientifically conducting relevant prevention and control efforts.
3.Study on dosimetric characteristics of proton radiotherapy in 3 cases of head and neck tumors
Weijie LI ; Tianyuan DAI ; Man HU ; Shizhang WU ; Chengqiang LI ; Cheng TAO ; Jinghao DUAN ; Jinhu CHEN ; Tong BAI ; Guohui WEI ; Jian ZHU
Journal of International Oncology 2025;52(10):646-652
Objective:To investigate the dosimetric characteristics of intensity modulated proton therapy (IMPT) and photon volumetric modulated arc therapy (VMAT) in typical head and neck malignant tumors.Methods:Three types of typical head and neck tumors (nasopharyngeal carcinoma, parotid gland carcinoma, laryngeal carcinoma) treated at Shandong Cancer Hospital and Institute from December 2023 to December 2024 were taken as research subjects. IMPT and VMAT radiotherapy plans were created according to clinical prescription requirements of target and organs at risk limits respectively. The conformity index (CI), homogeneity index (HI) and gradient index (GI) for target coverage of two radiotherapy plans were evaluated for 3 patients, as well as the dosimetric indicators of organs at risk.Results:The CI of IMPT for nasopharyngeal carcinoma, parotid gland carcinoma and laryngeal carcinoma were 0.70, 0.72 and 0.67, respectively. The HI were 0.11, 0.08 and 0.08, respectively. The GI were 3.08, 2.49 and 3.75, respectively. The CI of VMAT plans were 0.77, 0.82 and 0.91, respectively. The HI were 0.12, 0.10 and 0.04, respectively. The GI were 3.67, 2.63 and 3.45, respectively. The results showed that CI of IMPT plan was slightly lower than that of VMAT plan, and HI of IMPT plan was comparable to that of VMAT plan, the GI of the IMPT plan for patients with nasopharyngeal carcinoma and parotid gland carcinoma was lower than that of the VMAT plan, and the GI of the IMPT plan for patient with laryngeal carcinoma was higher than that of the VMAT plan, and all were within the clinically acceptable range. The IMPT plan has demonstrated significant dose advantages in the treatment of nasopharyngeal carcinoma, parotid gland carcinoma and laryngeal carcinoma. For patient with nasopharyngeal carcinoma, the IMPT plan reduced the D max of the left and right crystals by 54.1% and 50.4%, respectively, compared to VMAT plan, and reduced the D mean of the oral and laryngeal tissues by 40.5% and 49.6%, respectively. For patient with parotid gland carcinoma, IMPT plan reduced the D max of the brainstem and spinal cord by 66.2% and 40.5%, respectively, compared to VMAT plan. For patient with laryngeal carcinoma, IMPT reduced spinal cord D max by 77.0%, while thyroid cartilage D mean increased by 8.0% compared to VMAT plan. For the additional dose in the patients' body, taking the absolute volumes occupied by the prescribed dose areas of 10%, 30%, and 50% in the patients' body as examples, IMPT plan of nasopharyngeal carcinoma patient decreased by 29.7%, 29.6%, and 34.9% compared to VMAT plan, respectively. IMPT plan of parotid gland carcinoma patient decreased by 61.0%, 39.7%, and 17.4% compared to VMAT plan, respectively. IMPT plan of laryngeal carcinoma patient decreased by 63.9%, 31.7%, and 4.1% compared to VMAT plan, respectively. Conclusions:Compared with VMAT plan, IMPT plan can effectively reduce the irradiation dose of most organs at risk near the target of head and neck tumors, but the dose of string organs close to the target area may be higher, which needs attention.
4.iKcr-RG:A Two-branching Strategy Based on ResNet and BiGRU to Predict Lysine Acylation Sites of Non-histone Proteins
Hang CHENG ; Yan-Bei DUAN ; Xin WEI
Chinese Journal of Biochemistry and Molecular Biology 2025;41(2):305-314
Lyase acylation is a post-translational modification of proteins that plays a key role in cellular function,gene transcription and cellular metabolism.Meanwhile,lysine acylation is also involved in mul-tiple biological processes in life forms,and its abnormality may be associated with the occurrence and de-velopment of many diseases.Therefore,prediction of lysine acylation sites is important for the diagnosis and treatment of diseases.Although biomedical experiments can detect lysine acylation sites with high precision,they are costly and time-consuming.To address this problem,researchers have developed more convenient and efficient computational methods as an alternative to traditional biomedical experi-mental techniques.In this study,we developed a prediction model iKcr-RG based on a deep learning ap-proach,which employs a two-branching strategy using both ResNet and BiGRU to extract both local and global feature information from the original sequence encoding.To further improve the performance of the model,we innovatively designed a feature fusion method.After these optimizations,this study demon-strates stronger robustness and stability in unbalanced data.In the independent dataset results,specificity(Sp),sensitivity(Sn),accuracy(Acc)and Matthews correlation coefficient(MCC)were 0.8109,0.7902,0.7940,and 0.4978 respectively.The iKcr-RG model was better than existing prediction mod-els in predicting lysine acylation sites,and this study provides new ideas and methods for the application of deep learning in bioinformatics.
5.The value of Th17/Treg imbalance in the evaluation of intravenous immunoglobulin resistance in children with Kawasaki disease and Kobayashi score ≤4
Bo XIE ; Lan LUO ; Haiyan LUO ; Longgui YANG ; Jianghua FAN ; Lihui LIU ; Wei DUAN ; Nianci CHENG
Chinese Pediatric Emergency Medicine 2025;32(7):488-494
Objective:To investigate the value of T helper 17 cells(Th17)/regulatory T cells(Treg)imbalance in the evaluation of intravenous immunoglobulin(IVIG)resistance in children with Kawasaki disease and Kobayashi score≤4.Methods:A total of 78 children with Kawasaki disease and Kobayashi score ≤ 4 admitted to Hunan Children's Hospital from January 2020 to December 2023 were prospectively selected as the study subjects,all of whom received IVIG treatment.In the acute phase,the proportion of Th17 cells and Treg cells was detected.Children were divided into IVIG sensitive group and IVIG resistance group based on their responsiveness to IVIG treatment.Baseline data of children with different IVIG treatment responsiveness,acute Th17 cell inflammatory factors [interleukin(IL)-17,IL-21,tumor necrosis factor-α(TNF-α)],Treg cell inflammatory factors [IL-10,IL-35,transforming growth factor-β(TGF-β)] levels,and Th17/Treg values were compared.The correlation between Th17/Treg values and IVIG resistance in children with Kawasaki disease was analyzed using a restricted cubic spline model(RCS).According to the threshold of correlation between Th17/Treg values obtained from RCS analysis and drug resistance in children,Th17/Treg was grouped,with a focus on analyzing the predictive value and clinical benefits of Th17/Treg values for IVIG resistance in children with Kawasaki disease.Results:Among the 78 children with Kawasaki disease,16 were resistant to IVIG treatment,accounting for 20.51%.The levels of C-reactive protein(CRP),IL-17,and Th17/Treg in the acute phase of children in the IVIG resistance group were higher than those in the IVIG sensitive group,while the levels of IL-10 were lower than those in the IVIG sensitive group( P<0.05).RCS analysis showed that there was a non-linear dose-response relationship between IVIG resistance and acute Th17/Treg values in children with Kawasaki disease( P<0.05).When the acute Th17/Treg value was greater than 1.05,the risk of IVIG resistance in children with Kawasaki disease increased with the increase in indicator levels.The levels of CRP and IL-17 in the acute phase of children with Th17/Treg>1.05 were higher than those in the Th17/Treg < 1.05 group,while IL-10 levels were lower than those in the Th17/Treg<1.05 group.The proportion of children resistant to IVIG treatment was higher than that in the Th17/Treg<1.05 group( P<0.05).Multivariate Logistic regression analysis showed that CRP,IL-17,IL-10,and Th17/Treg were the influencing factors of IVIG resistance in children with Kawasaki disease( P<0.05).It was found through a nomogram that the C-index of the acute phase Th17/Treg values and their secretion of inflammatory factors in children with Kawasaki disease and Kobayashi score ≤ 4,as well as other major indicators,predicted the risk of IVIG resistance.The C-index was 0.975(95% CI 0.944-1.000),indicating good discrimination.When drawing the decision curve,it was found that compared to using each indicator separately,the Th17/Treg value and its secreted inflammatory factors in the acute phase assisted other major indicators in drawing the decision curve with a higher net benefit rate,with a maximum net benefit rate of 0.205. Conclusion:IVIG resistance in children with Kawasaki disease and Kobayashi score≤4 is related to Th17/Treg imbalance.When the Th17/Treg value in the acute phase of the disease is greater than 1.05,the risk of IVIG resistance is higher.The inflammatory factors IL-17 and IL-10 secreted by the two can assist other known indicators related to IVIG resistance in Kawasaki disease patients,improving the accuracy of predicting resistance risk.
6.The value of Th17/Treg imbalance in the evaluation of intravenous immunoglobulin resistance in children with Kawasaki disease and Kobayashi score ≤4
Bo XIE ; Lan LUO ; Haiyan LUO ; Longgui YANG ; Jianghua FAN ; Lihui LIU ; Wei DUAN ; Nianci CHENG
Chinese Pediatric Emergency Medicine 2025;32(7):488-494
Objective:To investigate the value of T helper 17 cells(Th17)/regulatory T cells(Treg)imbalance in the evaluation of intravenous immunoglobulin(IVIG)resistance in children with Kawasaki disease and Kobayashi score≤4.Methods:A total of 78 children with Kawasaki disease and Kobayashi score ≤ 4 admitted to Hunan Children's Hospital from January 2020 to December 2023 were prospectively selected as the study subjects,all of whom received IVIG treatment.In the acute phase,the proportion of Th17 cells and Treg cells was detected.Children were divided into IVIG sensitive group and IVIG resistance group based on their responsiveness to IVIG treatment.Baseline data of children with different IVIG treatment responsiveness,acute Th17 cell inflammatory factors [interleukin(IL)-17,IL-21,tumor necrosis factor-α(TNF-α)],Treg cell inflammatory factors [IL-10,IL-35,transforming growth factor-β(TGF-β)] levels,and Th17/Treg values were compared.The correlation between Th17/Treg values and IVIG resistance in children with Kawasaki disease was analyzed using a restricted cubic spline model(RCS).According to the threshold of correlation between Th17/Treg values obtained from RCS analysis and drug resistance in children,Th17/Treg was grouped,with a focus on analyzing the predictive value and clinical benefits of Th17/Treg values for IVIG resistance in children with Kawasaki disease.Results:Among the 78 children with Kawasaki disease,16 were resistant to IVIG treatment,accounting for 20.51%.The levels of C-reactive protein(CRP),IL-17,and Th17/Treg in the acute phase of children in the IVIG resistance group were higher than those in the IVIG sensitive group,while the levels of IL-10 were lower than those in the IVIG sensitive group( P<0.05).RCS analysis showed that there was a non-linear dose-response relationship between IVIG resistance and acute Th17/Treg values in children with Kawasaki disease( P<0.05).When the acute Th17/Treg value was greater than 1.05,the risk of IVIG resistance in children with Kawasaki disease increased with the increase in indicator levels.The levels of CRP and IL-17 in the acute phase of children with Th17/Treg>1.05 were higher than those in the Th17/Treg < 1.05 group,while IL-10 levels were lower than those in the Th17/Treg<1.05 group.The proportion of children resistant to IVIG treatment was higher than that in the Th17/Treg<1.05 group( P<0.05).Multivariate Logistic regression analysis showed that CRP,IL-17,IL-10,and Th17/Treg were the influencing factors of IVIG resistance in children with Kawasaki disease( P<0.05).It was found through a nomogram that the C-index of the acute phase Th17/Treg values and their secretion of inflammatory factors in children with Kawasaki disease and Kobayashi score ≤ 4,as well as other major indicators,predicted the risk of IVIG resistance.The C-index was 0.975(95% CI 0.944-1.000),indicating good discrimination.When drawing the decision curve,it was found that compared to using each indicator separately,the Th17/Treg value and its secreted inflammatory factors in the acute phase assisted other major indicators in drawing the decision curve with a higher net benefit rate,with a maximum net benefit rate of 0.205. Conclusion:IVIG resistance in children with Kawasaki disease and Kobayashi score≤4 is related to Th17/Treg imbalance.When the Th17/Treg value in the acute phase of the disease is greater than 1.05,the risk of IVIG resistance is higher.The inflammatory factors IL-17 and IL-10 secreted by the two can assist other known indicators related to IVIG resistance in Kawasaki disease patients,improving the accuracy of predicting resistance risk.
7.Clinical efficacy of transcatheter edge-to-edge repair in patients with non-central degenerative mitral regurgitation
Peijian WEI ; Junke CHANG ; Jianrui MA ; Guangzhi ZHAO ; Jing DONG ; Cheng WANG ; Fengwen ZHANG ; Shiguo LI ; Fujian DUAN ; Wenbin OUYANG ; Shouzheng WANG ; Fang FANG ; Xiangbin PAN
Chinese Journal of Cardiology 2025;53(4):373-381
Objective:To evaluate the clinical efficacy of mitral valve transcatheter edge-to-edge repair (TEER) in patients with non-central degenerative mitral regurgitation (DMR).Methods:This retrospective study included patients with non-central DMR who underwent TEER at Fuwai Hospital between January 2021 and February 2024. Patients were categorized into two groups: the commissure-involved group and the non-commissure group, based on whether the mitral valve commissures were involved. Clinical data, surgical outcomes, and echocardiographic findings at 3 months postoperatively were collected and compared, and patients were followed up. The primary endpoint was the procedural success rate at discharge.Results:A total of 59 patients were included, aged (68.6±9.3) years, including 23 females (39%). In the overall study population, 78% (46/59) of patients had severe mitral regurgitation. Forty-two cases were in the non-commissure group, and 17 cases were in the commissure-involved group. Patients in the non-commissure group mainly had lesions in the A1/P1 region, while patients in the commissure-involved group mainly had lesions in the A3/P3 region. There was no significant difference in the procedural success rate at discharge (93% vs. 88%, P=0.95) and the incidence of postoperative complications (5% vs. 6%, P=1.00) between the two groups. Two patients in the commissure-involved group experienced single leaflet device attachment, with one of them requiring conversion to surgical mitral valve surgery; In the non-commissure group, two patients experienced single-valve clamping, and one of them was converted to surgical mitral valve surgery. The follow-up time of the entire cohort was (15.5±10.3) months. In the non-commissure group, 2 patients died and 2 were readmitted. While in the commissure-involved group, no patients died and only 1 patient was readmitted. Conclusion:TEER is an effective treatment for patients with non-central DMR involving the commissures, without increasing the incidence of postoperative complications.
8.iKcr-RG:A Two-branching Strategy Based on ResNet and BiGRU to Predict Lysine Acylation Sites of Non-histone Proteins
Hang CHENG ; Yan-Bei DUAN ; Xin WEI
Chinese Journal of Biochemistry and Molecular Biology 2025;41(2):305-314
Lyase acylation is a post-translational modification of proteins that plays a key role in cellular function,gene transcription and cellular metabolism.Meanwhile,lysine acylation is also involved in mul-tiple biological processes in life forms,and its abnormality may be associated with the occurrence and de-velopment of many diseases.Therefore,prediction of lysine acylation sites is important for the diagnosis and treatment of diseases.Although biomedical experiments can detect lysine acylation sites with high precision,they are costly and time-consuming.To address this problem,researchers have developed more convenient and efficient computational methods as an alternative to traditional biomedical experi-mental techniques.In this study,we developed a prediction model iKcr-RG based on a deep learning ap-proach,which employs a two-branching strategy using both ResNet and BiGRU to extract both local and global feature information from the original sequence encoding.To further improve the performance of the model,we innovatively designed a feature fusion method.After these optimizations,this study demon-strates stronger robustness and stability in unbalanced data.In the independent dataset results,specificity(Sp),sensitivity(Sn),accuracy(Acc)and Matthews correlation coefficient(MCC)were 0.8109,0.7902,0.7940,and 0.4978 respectively.The iKcr-RG model was better than existing prediction mod-els in predicting lysine acylation sites,and this study provides new ideas and methods for the application of deep learning in bioinformatics.
9.Clinical efficacy of transcatheter edge-to-edge repair in patients with non-central degenerative mitral regurgitation
Peijian WEI ; Junke CHANG ; Jianrui MA ; Guangzhi ZHAO ; Jing DONG ; Cheng WANG ; Fengwen ZHANG ; Shiguo LI ; Fujian DUAN ; Wenbin OUYANG ; Shouzheng WANG ; Fang FANG ; Xiangbin PAN
Chinese Journal of Cardiology 2025;53(4):373-381
Objective:To evaluate the clinical efficacy of mitral valve transcatheter edge-to-edge repair (TEER) in patients with non-central degenerative mitral regurgitation (DMR).Methods:This retrospective study included patients with non-central DMR who underwent TEER at Fuwai Hospital between January 2021 and February 2024. Patients were categorized into two groups: the commissure-involved group and the non-commissure group, based on whether the mitral valve commissures were involved. Clinical data, surgical outcomes, and echocardiographic findings at 3 months postoperatively were collected and compared, and patients were followed up. The primary endpoint was the procedural success rate at discharge.Results:A total of 59 patients were included, aged (68.6±9.3) years, including 23 females (39%). In the overall study population, 78% (46/59) of patients had severe mitral regurgitation. Forty-two cases were in the non-commissure group, and 17 cases were in the commissure-involved group. Patients in the non-commissure group mainly had lesions in the A1/P1 region, while patients in the commissure-involved group mainly had lesions in the A3/P3 region. There was no significant difference in the procedural success rate at discharge (93% vs. 88%, P=0.95) and the incidence of postoperative complications (5% vs. 6%, P=1.00) between the two groups. Two patients in the commissure-involved group experienced single leaflet device attachment, with one of them requiring conversion to surgical mitral valve surgery; In the non-commissure group, two patients experienced single-valve clamping, and one of them was converted to surgical mitral valve surgery. The follow-up time of the entire cohort was (15.5±10.3) months. In the non-commissure group, 2 patients died and 2 were readmitted. While in the commissure-involved group, no patients died and only 1 patient was readmitted. Conclusion:TEER is an effective treatment for patients with non-central DMR involving the commissures, without increasing the incidence of postoperative complications.
10.Clinical Manifestations,Molecular Genetics and Gonadal Pathology of 416 Patients with Disorders of Sex Development:A Single-Center Cohort Study
Wanjun LIN ; Cuili LIANG ; Wen FU ; Liyu ZHANG ; Wei JIA ; Jinhua HU ; Wen ZHANG ; Yunting LIN ; Huilin NIU ; Liping FAN ; Zhikun LU ; Duan LI ; Zongcai LIU ; Huiying SHENG ; Xi YIN ; Xiaodan CHEN ; Guochang LIU ; Jing CHENG ; Li LIU
JOURNAL OF RARE DISEASES 2024;3(3):310-317
Objective To investigate the clinical manifestations,molecular genetics and gonadal pathol-ogy characteristics of patients with disorders of sex development(DSD),and to summarize the clinical experi-ence of identifying rare diseases from common symptoms.Methods The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children's Medical Cen-ter from May 2018 to August 2023 were retrospectively analyzed,summarized and discussed.Results Accord-ing to chromosome karyotype,416 cases of DSD were classified into three types:92 cases(22.1%)of abnormal sex chromosome karyotype,285 cases(68.5%)of 46,XY karyotype and 39 cases(9.4%)of 46,XX karyotype.Among the 92 patients with abnormal sex chromosome karyotype,59 cases were raised as males,18 cases(30.5%)complained of short penis with hypospadias and cryptorchidism.The most common karyotype was 45,X/46,XY(58 cases,63.0%).Among the 285 patients with 46,XY karyotype,238 cases were raised as males,and 63 cases(26.5%)complained of short penis and hypospadias;47 cases were raised as females,and 13 ca-ses(27.7%)complained of inguinal mass.A total of 216 patients with 46,XY karyotype were subjected to whole exome gene detection,and 155 cases(71.8%)were found to have molecular pathogenesis with the clinical phe-notype.Among the 39 patients with 46,XX karyotype,19 cases were raised as males,and 8 cases(42.1%)com-plained of short penis and hypospadias.In the 18 cases of gonad biopsy,17 cases showed testicular tissue in go-nads.Whole exome sequencing was performed in 14 cases.NR5A1 gene heterozygous mutation,SRY gene muta-tion and SOX3 gene mutation were found in 2 cases,respectively(14.3%).Twenty cases were raised as females,and 14 cases(70.0%)complained of clitoral hypertrophy.Gonad biopsy was performed in 8 cases,with 7 cases of ovotestis(87.5%)and 1 case of NR5A1 gene heterozygous mutation(14.3%).Conclusions The etiologies of DSD are complex and diverse,and the clinical manifestations are various,which can be manifested as hypospa-dias,micropenis,cryptorchidism and other common symptoms of the urinary system.Different etiologies have dif-ferent treatment options.Therefore,chromosome karyotype,molecular genetic testing and gonadal pathology can be used to clarify the cause of disease,especially for rare diseases,improve the detection rate,reduce the rate of missed diagnosis,and ensure reasonable treatment,especially sex selection.

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