1.Sagittal splitting osteotomy of the mandibular outer cortex and autologous bone grafting for the treatment of hemifacial microsomia
Lai GUI ; Feng NIU ; Bing YU ; Jianfeng LIU ; Ying CHEN ; Xi FU ; Shixing XU ; Jia QIAO ; Qi JIN ; Yu HE ; Xuebing LIANG ; Lei CUI ; Fuhuan CHEN ; Qi CHEN
Chinese Journal of Plastic Surgery 2024;40(3):249-257
Objective:To investigate a new method for the reconstruction of hemifacial microsomia by sagittal osteotomy of the affected mandibular outer cortex combined with bone graft of mandibular outer cortex from healthy side.Methods:From March 2006 to March 2023, the clinical data of patients with hemifacial microsomia admitted to the Department of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences were analyzed retrospectively. Preoperative diagnosis and surgical design were performed based on clinical manifestations and imaging findings. All cases were operated under general anesthesia. The affected mandibular outer cortex was previously split by an intraoral approach, and then the mandibular outer cortex of appropriate shape and size on the healthy side was harvested and grafted into the split bone space according to the preoperative design, following by internal rigid fixation. Complications, facial appearance improvement, and patient satisfaction were followed up. Photographs were taken preoperative, immediately postoperative and at the long-term(last) postoperative follow-up, and the severity of the deformity was analyzed. CT data from preoperative, immediate postoperative, and long-term follow-up visits were imported into Surgicase Proplan medical three-dimensional image workstation in Dicom format. The mandible was reconstructed using Segmentation, and the thickness of the mandible was measured during pre-operative, immediate post-operative and long-term follow-up visits. Anova with repeated measurement design was used to compare measurements and LSD test was used for multiple comparisons. The Kruskal-Wallis rank sum test were used to statistically analyze malformation severity. P< 0.05 is considered statistically significant. Results:A total of 39 patients were included in this study, including 13 females and 26 males, with an average age of (22.21±4.57) years (15-27 years). All patients were followed up for an average of (45.56±39.41) months (6-153 months) after surgery. The grafted mandibular outer cortex grows well with the adjacent bone tissue, and the mandibular angle and mandibular body are significantly wider. Of the 39 cases, 1 developed an infection 1 year after surgery, the titanium plate was exposed, and the patient healed after debridement and removal of the immobilizing splint. The facial appearance of the other patients improved significantly. Preoperative, immediate postoperative and long term follow up of mandibular thickness measurements were compared in pairs, and the differences were statistically significant (all P<0.05). The patient’s appearance satisfaction score: the preoperative score was [2.0(1.5, 2.0)] points, the immediate postoperative score was [4.0(4.0, 4.0)] points, the score of the last postoperative follow up was [4.0(4.0, 4.0)] points. There was statistical difference in satisfaction among the three groups ( P<0.01). The preoperative scores were compared with the scores of the immediate postoperative and the last postoperative follow-up respectively, and the differences were statistically significant( P<0.01). There was no statistical significance in satisfaction between the immediate postoperative score and the score of the last postoperative follow up ( P>0.05). Conclusion:The sagittal splitting osteotomy of the mandibular outer cortex is consistent with the features of mandibular anatomy, and provides a good condition for the grafting and healing of autogenous bone. Removing the outer cortex of the mandible on the healthy side not only increases the thickness of the affected side, but also decreases the width of the angle of the mandible on the healthy side, so as to effectively correct the asymmetric deformity of the mandible. The method is simple, with few complications and good results, and is one of the ideal treatments to correct hemofacial microsomia.
2.Sagittal splitting osteotomy of the mandibular outer cortex and autologous bone grafting for the treatment of hemifacial microsomia
Lai GUI ; Feng NIU ; Bing YU ; Jianfeng LIU ; Ying CHEN ; Xi FU ; Shixing XU ; Jia QIAO ; Qi JIN ; Yu HE ; Xuebing LIANG ; Lei CUI ; Fuhuan CHEN ; Qi CHEN
Chinese Journal of Plastic Surgery 2024;40(3):249-257
Objective:To investigate a new method for the reconstruction of hemifacial microsomia by sagittal osteotomy of the affected mandibular outer cortex combined with bone graft of mandibular outer cortex from healthy side.Methods:From March 2006 to March 2023, the clinical data of patients with hemifacial microsomia admitted to the Department of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences were analyzed retrospectively. Preoperative diagnosis and surgical design were performed based on clinical manifestations and imaging findings. All cases were operated under general anesthesia. The affected mandibular outer cortex was previously split by an intraoral approach, and then the mandibular outer cortex of appropriate shape and size on the healthy side was harvested and grafted into the split bone space according to the preoperative design, following by internal rigid fixation. Complications, facial appearance improvement, and patient satisfaction were followed up. Photographs were taken preoperative, immediately postoperative and at the long-term(last) postoperative follow-up, and the severity of the deformity was analyzed. CT data from preoperative, immediate postoperative, and long-term follow-up visits were imported into Surgicase Proplan medical three-dimensional image workstation in Dicom format. The mandible was reconstructed using Segmentation, and the thickness of the mandible was measured during pre-operative, immediate post-operative and long-term follow-up visits. Anova with repeated measurement design was used to compare measurements and LSD test was used for multiple comparisons. The Kruskal-Wallis rank sum test were used to statistically analyze malformation severity. P< 0.05 is considered statistically significant. Results:A total of 39 patients were included in this study, including 13 females and 26 males, with an average age of (22.21±4.57) years (15-27 years). All patients were followed up for an average of (45.56±39.41) months (6-153 months) after surgery. The grafted mandibular outer cortex grows well with the adjacent bone tissue, and the mandibular angle and mandibular body are significantly wider. Of the 39 cases, 1 developed an infection 1 year after surgery, the titanium plate was exposed, and the patient healed after debridement and removal of the immobilizing splint. The facial appearance of the other patients improved significantly. Preoperative, immediate postoperative and long term follow up of mandibular thickness measurements were compared in pairs, and the differences were statistically significant (all P<0.05). The patient’s appearance satisfaction score: the preoperative score was [2.0(1.5, 2.0)] points, the immediate postoperative score was [4.0(4.0, 4.0)] points, the score of the last postoperative follow up was [4.0(4.0, 4.0)] points. There was statistical difference in satisfaction among the three groups ( P<0.01). The preoperative scores were compared with the scores of the immediate postoperative and the last postoperative follow-up respectively, and the differences were statistically significant( P<0.01). There was no statistical significance in satisfaction between the immediate postoperative score and the score of the last postoperative follow up ( P>0.05). Conclusion:The sagittal splitting osteotomy of the mandibular outer cortex is consistent with the features of mandibular anatomy, and provides a good condition for the grafting and healing of autogenous bone. Removing the outer cortex of the mandible on the healthy side not only increases the thickness of the affected side, but also decreases the width of the angle of the mandible on the healthy side, so as to effectively correct the asymmetric deformity of the mandible. The method is simple, with few complications and good results, and is one of the ideal treatments to correct hemofacial microsomia.
3.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
4.Risk factors for bronchopulmonary dysplasia in twin preterm infants:a multicenter study
Yu-Wei FAN ; Yi-Jia ZHANG ; He-Mei WEN ; Hong YAN ; Wei SHEN ; Yue-Qin DING ; Yun-Feng LONG ; Zhi-Gang ZHANG ; Gui-Fang LI ; Hong JIANG ; Hong-Ping RAO ; Jian-Wu QIU ; Xian WEI ; Ya-Yu ZHANG ; Ji-Bin ZENG ; Chang-Liang ZHAO ; Wei-Peng XU ; Fan WANG ; Li YUAN ; Xiu-Fang YANG ; Wei LI ; Ni-Yang LIN ; Qian CHEN ; Chang-Shun XIA ; Xin-Qi ZHONG ; Qi-Liang CUI
Chinese Journal of Contemporary Pediatrics 2024;26(6):611-618
Objective To investigate the risk factors for bronchopulmonary dysplasia(BPD)in twin preterm infants with a gestational age of<34 weeks,and to provide a basis for early identification of BPD in twin preterm infants in clinical practice.Methods A retrospective analysis was performed for the twin preterm infants with a gestational age of<34 weeks who were admitted to 22 hospitals nationwide from January 2018 to December 2020.According to their conditions,they were divided into group A(both twins had BPD),group B(only one twin had BPD),and group C(neither twin had BPD).The risk factors for BPD in twin preterm infants were analyzed.Further analysis was conducted on group B to investigate the postnatal risk factors for BPD within twins.Results A total of 904 pairs of twins with a gestational age of<34 weeks were included in this study.The multivariate logistic regression analysis showed that compared with group C,birth weight discordance of>25%between the twins was an independent risk factor for BPD in one of the twins(OR=3.370,95%CI:1.500-7.568,P<0.05),and high gestational age at birth was a protective factor against BPD(P<0.05).The conditional logistic regression analysis of group B showed that small-for-gestational-age(SGA)birth was an independent risk factor for BPD in individual twins(OR=5.017,95%CI:1.040-24.190,P<0.05).Conclusions The development of BPD in twin preterm infants is associated with gestational age,birth weight discordance between the twins,and SGA birth.
5.Analysis of the status of excess heart age and its risk factors among residents aged 35 to 64 years in China.
Lu Ting GUI ; Tuo LIU ; Wei Wei CHEN ; Ling Zhi KONG ; Wei CUI ; Wen Hui SHI ; Yu JIANG
Chinese Journal of Preventive Medicine 2023;57(5):679-685
Objective: To analyze the status of excess heart age and its risk factors among Chinese residents aged 35 to 64 years. Methods: The study subjects were Chinese residents aged 35 to 64 years who completed the heart age assessment by WeChat official account "Heart Strengthening Action" through the internet from January 2018 to April 2021. Information such as age, gender, body mass index (BMI), blood pressure, total cholesterol (TC), smoking history, and diabetes history was collected. The heart age and excess heart age were calculated according to the characteristics of individual cardiovascular risk factors and the heart aging was defined as excess heart age≥5 years and 10 years respectively. The heart age and standardization rate were calculated respectively based on the population standardization of the 7th census in 2021.CA trend test was used to analyze the changing trend of excess heart age rate and population attributable risk (PAR) was used to calculate the contribution of risk factors. Results: The mean age of 429 047 subjects was (49.25±8.66) years. The male accounted for 51.17% (219 558/429 047) and the excess heart age was 7.00 (0.00, 11.00) years. The excess heart age rate defined by excess heart age≥5 years and ≥10 years was 57.02% (the standardized rate was 56.83%) and 38.02% (the standardized rate was 37.88%) respectively. With the increase of the age and number of risk factors, the excess heart age rate of the two definitions showed an upward trend according to the result of the trend test analysis (P<0.001). The top two risk factors of the PAR for excess heart age were overweight or obese and smoking. Among them, the male was smoking and overweight or obese, while the female was overweight or obese and having hypercholesterolemia. Conclusion: The excess heart age rate is high in Chinese residents aged 35 to 64 years and the contribution of overweight or obese, smoking and having hypercholesterolemia ranks high.
Humans
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Male
;
Female
;
Overweight
;
Hypercholesterolemia/epidemiology*
;
Risk Factors
;
Obesity/epidemiology*
;
Body Mass Index
;
China/epidemiology*
6.Efficacy of implantable collamer lens V4c implantation in the treatment of high myopia
Hong-Ming LI ; Dan-Jie NIE ; Bo ZHONG ; Wu SUN ; Yu-Long CUI ; Gui-Ying TAN ; Yang HU
International Eye Science 2023;23(8):1409-1412
AIM:To observe the effect of implantable collamer lens V4c(ICL V4c)implantation on high myopia, and the changes in anterior segment morphology.METHODS:A prospective study was conducted on 100 patients(200 eyes)with high myopia who were treated with ICL V4c implantation in the hospital from February 2018 to March 2021. The best corrected visual acuity(BCVA), uncorrected visual acuity(UCVA), intraocular pressure, higher-order aberration, anterior segment morphology [iridocorneal angle(ICA), central anterior chamber depth(ACD), anterior chamber volume(ACV), central corneal thickness(CCT)and K-value(K)], photopic and scotopic contrast sensitivity before operation and 6 and 12mo after operation were comparatively analyzed.RESULTS:All patients were followed-up. UCVA and BCVA were significantly improved at 6 and 12mo after operation(P<0.05). Total higher-order aberration, horizontal coma and vertical coma showed no significant difference before and after operation(P>0.05). Spherical aberration, ICA, ACD and ACV at 6 and 12mo after operation were significantly smaller than those before operation(P<0.05). Under photopic state, the contrast sensitivity of 3.0 and 6.0 c/d was significantly higher at 6 and 12mo after operation when compared with that before operation(P<0.05). Under scotopic state, the contrast sensitivity of 6.0 c/d was significantly higher at 6 and 12mo after operation when compared with that before operation(P<0.05); there was no significant difference in CCT, K, or intraocular pressure before and after operation(P>0.05).CONCLUSION:Although ICA, ACD and ACV in patients with high myopia are reduced after ICL V4c implantation, the operation can effectively improve visual acuity and visual quality.
7.Clinical characteristics of 11 patients with chronic lymphocytic leukemia with t (14;19) (q32;q13).
Cheng Hua CUI ; Ya Nan CHANG ; Ji ZHOU ; Cheng Wen LI ; Hui Jun WANG ; Qi SUN ; Yu Jiao JIA ; Qing Hua LI ; Ting Yu WANG ; Lu Gui QIU ; Shu Hua YI
Chinese Journal of Hematology 2023;44(5):418-423
Objective: To analyze the clinicopathological characteristics of 11 cases of chronic lymphocytic leukemia (CLL) with t (14;19) (q32;q13) . Methods: The case data of 11 patients with CLL with t (14;19) (q32;q13) in the chromosome karyotype analysis results of the Blood Diseases Hospital, Chinese Academy of Medical Sciences from January 1, 2018, to July 30, 2022, were retrospectively analyzed. Results: In all 11 patients, t (14;19) (q32;q13) involved IGH::BCL3 gene rearrangement, and most of them were accompanied by +12 or complex karyotype. An immunophenotypic score of 4-5 was found in 7 patients and 3 in 4 cases. We demonstrated that CLLs with t (14;19) (q32;q13) had a mutational pattern with recurrent mutations in NOTCH1 (3/7), FBXW7 (3/7), and KMT2D (2/7). The very-high-risk, high-risk, intermediate-risk, and low-risk groups consisted of 1, 1, 6, and 3 cases, respectively. Two patients died, 8 survived, and 2 were lost in follow-up. Four patients had disease progression or relapse during treatment. The median time to the first therapy was 1 month. Conclusion: t (14;19) (q32;q13), involving IGH::BCL3 gene rearrangement, is a rare recurrent cytogenetic abnormality in CLL, which is associated with a poor prognosis.
Humans
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Leukemia, Lymphocytic, Chronic, B-Cell/genetics*
;
Retrospective Studies
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Translocation, Genetic
;
Chromosome Aberrations
;
Karyotyping
8.Research progress on the effect mechanism of acupuncture-moxibustion for pressure injuries.
Hong-Na YIN ; Yang CUI ; Zhong-Ren SUN ; De-Long WANG ; Xin-Yu ZHOU ; Jian-Tao YIN ; Shuo ZHANG ; Gui-Jun LIU
Chinese Acupuncture & Moxibustion 2023;43(8):970-976
Evidence shows that acupuncture-moxibustion could promote the healing of pressure injuries (PI), but its action mechanism is not fully understood. This review summarizes the basic research literature of acupuncture-moxibustion for PI and identifies that the mechanism of acupuncture-moxibustion for PI is related with regulation of related signaling pathway target proteins, improvement of inflammatory response, modulation of vascular microenvironment, attenuation of oxidative stress damage, and inhibition of cell apoptosis. The review also points out the current limitations and future research directions. It emphasizes the need for further exploration of the upstream regulatory mechanism, specific cellular molecules, and the interactions among these molecules. A multi-level, multi-target, and multi-dimensional approach is required to fully understand the mechanism underlying the promotion of PI healing by acupuncture-moxibustion.
Humans
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Moxibustion
;
Pressure Ulcer
;
Acupuncture Therapy
;
Acupuncture
;
Apoptosis
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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