1.Comparative study on lengthened proximal femoral nail antirotation and InterTan in the treatment of subtrochanteric femur fractures in the elderly.
Zhen-Shan WANG ; Ming-Cong DING ; Jin JIANG ; Jing-Sheng LIU ; Tong-Qun YANG
China Journal of Orthopaedics and Traumatology 2025;38(7):662-667
OBJECTIVE:
To investigate the clinical efficacy of lengthened proximal femoral nail antirotation (PFNA) and InterTan in the treatment of subtrochanteric femur fractures in the elderly.
METHODS:
A retrospective analysis was performed on the data of 65 elderly patients diagnosed with subtrochanteric femoral fractures who met the inclusion criteria between October 2016 and January 2022. The enrolled patients were categorized into two groups according to the type of internal fixation used: the lengthened proximal femoral nail antirotation(PFNA) group and the InterTan group. There were 32 patients in the PFNA group, comprising 20 males and 12 females, with ages ranging from 60 to 85 years old with an average of (69.3±6.7 ) years old. Among these patients, 15 patients resulted from traffic accidents and 17 patients were caused by falls. According to the Seinsheimer classification system, there were 11 patients as type Ⅱ, 14 patients as type Ⅲ, 6 patients as type Ⅳ, and 1 patient as type Ⅴ. The InterTan group comprised 33 patients, including 20 males and 13 females, aged from 60 to 85 years old with an average of (69.8±7.8 ) years old. Of these, 15 patients resulted from traffic accidents, while 18 patients were caused by falls. According to the Seinsheimer classification system, 10 patients as type Ⅱ, 15 patients as type Ⅲ, 7 patients as type Ⅳ, and 1 patient as type Ⅴ. The intraoperative blood loss, operative duration, and fracture healing time were recorded and compared between two groups. The quality of fracture reduction was assessed using Chang's criteria. Additionally, the Harris hip score was utilized to evaluate hip function in both groups at 3 months postoperatively and at the final follow-up.
RESULTS:
All patients were followed up for a period ranging from 10 to 20 months with an average of (14.6±4.5) months. No statistically significant differences were observed between two groups in terms of operation time, intraoperative blood loss, quality of fracture reduction, or reduction methods (P>0.05). Three months after the surgery, the Harris hip score in the InterTan group was 80.0(78.0, 83.5) points, which was significantly higher than that in the PFNA group, which recorded a score of 77.5(75.0, 81.8) points. This difference was statistically significant (P<0.05). At the final follow-up, the Harris hip score in the InterTan group was 80.0(76.5, 87.0), while that in the PFNA group was 78.0(74.3, 82.8). No statistically significant difference was observed between two groups (P>0.05).
CONCLUSION
The use of lengthened PFNA and InterTan in the treatment of elderly subtrochanteric femur fractures can both achieve good treatment results, with the advantages of simple operation, firm fixation, and low failure rate of internal fixation. The lengthened InterTan can achieve better hip function than PFNA.
Humans
;
Male
;
Female
;
Aged
;
Aged, 80 and over
;
Bone Nails
;
Retrospective Studies
;
Hip Fractures/surgery*
;
Middle Aged
;
Fracture Fixation, Intramedullary/instrumentation*
;
Fracture Fixation, Internal/methods*
;
Femoral Fractures/surgery*
2.Analysis of influencing factors on the trajectories of psychological symptom clusters in pregnant women with assisted reproductive technology and nursing revelation
Danni SONG ; Shuang HU ; Congshan PU ; Yiting WANG ; Jin HE ; Yajie DING ; Chunjian SHAN
Chinese Journal of Nursing 2025;60(10):1209-1216
Objective To explore the trajectory of psychological symptom clusters in pregnant women with assisted reproductive technology(ART),and analyze the influencing factors of each trajectory subgroups,in order to provide a theoretical basis for the management of psychological health during pregnancy in pregnant women with ART.Methods A total of 205 pregnant women who had conceived using ART were sampled from the obstetrics clinic of a tertiary hospital in Nanjing from August 2023 to April 2024 using a convenient sampling method.The baseline data were assessed by general information questionnaire,Symptom Checklist-90,Distress Disclosure Index and Positive Psychological Capital Questionnaire at 10-14 weeks gestation,and the follow-up information was assessed by Symptom Checklist-90 at 22-26 weeks of gestation and 34-38 weeks of gestation.Exploratory factor analysis was used to extract symptom clusters;the latent class growth mixture model was used to identify the track categories;the multiple logistic regression analysis was used to analyze the influencing factors of the track.Results 180 cases were finally included.By exploratory factor analysis,5,4 and 5 factors were extracted at 3 time points respectively.Trajectories of psychological symptom clusters in pregnant women with ART is divided into 3 potential classes:low level-slow relieving group(28.89%),high level-significant increasing group(6.11%),medium level-slow increasing group(65.00%).Logistic regression analyses showed that duration of infertility,number of ART,literacy,pain self-expression and positive psychological capital were influential factors in the potential categories of psychological symptom clusters in pregnant women conceived with ART(all P<0.05).Conclusion The trajectory of psychological symptom clusters in pregnant women with ART was divided into 3 potential classes.Medical workers could develop corresponding interventions based on the influencing factors and implement comprehensive and efficient symptom management.
3.Analysis of influencing factors on the trajectories of psychological symptom clusters in pregnant women with assisted reproductive technology and nursing revelation
Danni SONG ; Shuang HU ; Congshan PU ; Yiting WANG ; Jin HE ; Yajie DING ; Chunjian SHAN
Chinese Journal of Nursing 2025;60(10):1209-1216
Objective To explore the trajectory of psychological symptom clusters in pregnant women with assisted reproductive technology(ART),and analyze the influencing factors of each trajectory subgroups,in order to provide a theoretical basis for the management of psychological health during pregnancy in pregnant women with ART.Methods A total of 205 pregnant women who had conceived using ART were sampled from the obstetrics clinic of a tertiary hospital in Nanjing from August 2023 to April 2024 using a convenient sampling method.The baseline data were assessed by general information questionnaire,Symptom Checklist-90,Distress Disclosure Index and Positive Psychological Capital Questionnaire at 10-14 weeks gestation,and the follow-up information was assessed by Symptom Checklist-90 at 22-26 weeks of gestation and 34-38 weeks of gestation.Exploratory factor analysis was used to extract symptom clusters;the latent class growth mixture model was used to identify the track categories;the multiple logistic regression analysis was used to analyze the influencing factors of the track.Results 180 cases were finally included.By exploratory factor analysis,5,4 and 5 factors were extracted at 3 time points respectively.Trajectories of psychological symptom clusters in pregnant women with ART is divided into 3 potential classes:low level-slow relieving group(28.89%),high level-significant increasing group(6.11%),medium level-slow increasing group(65.00%).Logistic regression analyses showed that duration of infertility,number of ART,literacy,pain self-expression and positive psychological capital were influential factors in the potential categories of psychological symptom clusters in pregnant women conceived with ART(all P<0.05).Conclusion The trajectory of psychological symptom clusters in pregnant women with ART was divided into 3 potential classes.Medical workers could develop corresponding interventions based on the influencing factors and implement comprehensive and efficient symptom management.
4.The relationship between risk perception and health promoting lifestyle profile in population with moderate and high risk of cardiovascular diseases:a Nomogram model analysis
Zhiting GUO ; Yanmin SHAN ; Yuping ZHANG ; Chuanqi DING ; Jingfen JIN
Chinese Journal of Practical Nursing 2024;40(2):90-96
Objective:To explore the relationship between risk perception and health promoting lifestyle profile in population with cardiovascular disease (CVD), and construct a prediction model for clinical screening and targeted intervention.Methods:A cross-sectional survey method was used to select 272 people at moderate and high risk of CVD from the Second Affiliated Hospital of Zhejiang University School of Medicine from March to August 2022. The general information questionnaire, Chinese version of Attitude and Beliefs about Cardiovascular Disease Knowledge and Risk Questionnaire (ABCD-C), and Health Promoting Lifestyle Profile-II (HPLP Ⅱ) were used. Based on multiple regression analysis, a nomogram model for health promoting lifestyle in high-risk CVD population was constructed.Results:Among 272 participants, male 150 cases, female 122 cases, aged (60.58 ± 10.64) years old. The total ABCD-C score was (56.57 ± 5.69), and the total HPLP Ⅱ score was (111.92 ± 12.47). ABCD-C score was significantly positively correlated with HPLP Ⅱ score ( r=0.556, P<0.01). The median of HPLP Ⅱ total score (111 points) was used as the cut-off point for low level of health-promoting lifestyle (≤111 points) and high level of health-promoting lifestyle (>111 points), and used it as the dependent variable, smoking ( OR=0.215, 95% CI 0.104-0.446) was a barrier factor for participants to adopt healthy lifestyle; being married ( OR=14.237, 95% CI 1.963-103.238), having a family average monthly income higher than 5 000 yuan ( OR=4.101, 95% CI 1.369-12.288), higher score of CVD prevention knowledge ( OR=1.660, 95% CI 1.373-2.007), perceived benefits and intention to change physical activity ( OR=1.445, 95% CI 1.255-1.663), perceived benefits and intention to change healthy diet ( OR=1.322, 95% CI 1.058-1.654) were promoting factors. Conclusions:The health-promoting lifestyle of populations at risk for CVD is above-average, influenced by factors such as smoking, marital and economic status, risk attitudes, and beliefs. Utilizing the nomogram model for early screening and targeted risk communication among key populations may contribute to improving their health behavior.
5.Effect of galectin-3 deficiency on mast cells activation and skin lesion in psoriatic mice model
Meiqi CHENG ; Zhu JIN ; Ding ZHANG ; Qiong WANG ; Yue HU ; Jin CHAO ; Decheng WANG ; Shan-Shan HAN
Chinese Journal of Immunology 2024;40(4):686-692
Objective:To investigate the effects and potential mechanisms of galectin-3(Gal3)on mast cells activation and skin injury in a psoriatic murine model.Methods:Imiquimod was applied to the bare skin on back of SPF(Gal3+/+)mice and their matched(Gal3-/-)siblings respectively once daily for 5 d to establish a psoriatic mice model.The development and dynamics of skin le-sions were monitored and recorded,scored.with the psoriasis area and severity index(PASI).The expressions of il-1 and il-17 in the damaged skin were detected by real-time PCR to compare the severity of inflammation between Gal3+/+ mice and their Gal3-/-siblings.HE staining was used to observe the histopathological changes of skin.The difference in morphology and distribution of mast cells were examined by toluidine blue staining.Immunohistochemistry and image analysis techniques were improved to assay the expression and distribution of activated mast cells markers such as tryptase and 5-hydroxytryptamine(5-HT).Results:The typical psoriatic signs in-cluding erythema,scaling and infiltration were formed in mice after continuous administration of imiquimod in Gal3-/-mice,whereas Gal3+/+ mice just developed small scaling and mild infiltration.PASI score of Gal3-/-mice was significantly higher than that of Gal3+/+mice.In accordance,il-1 and il-17 were increased in the skin lesions of Gal3+/+ mice and Gal3-/-mice,but these inflammatory factors were more upregulated remarkably in the latter.Histopathology observation revealed that the epidermis of Gal3+/+ mice was slightly thickened,whereas thickened epidermis of Gal3-/-mice was more seriously and the rete ridges extended downward,with massive in-flammatory cells aggregation.Toluidine blue staining indicated that the mast cells were sparsely distributed and most of their structures were intact in Gal3+/+ mice,instead the mast cells of Gal3-/-mice were mostly in degranulation state with increased and distributed widely in skin.Immunohistochemistry staining revealed that tryptase and 5-HT,compared with those of Gal3+/+ mice,were increased obviously in the lesioned skin of Gal3-/-mice,most of them were concentrated in the epidermal in particular.Conclusion:The defi-ciency of Gal3 may result in over-activation and degranulation of mast cells at the skin in psoriatic mice model,which aggravates the occurrence of dermatitis inflammatory injury and disease progression in psoriasis,and Gal3 plays suppressive effects on mast cells acti-vation and degranulation at the skin lesions in this model.
6.Research progress of microparticles in traditional Chinese medicine decoction
Yu-fang WEI ; Zhi-ying DOU ; Chuan-shan JIN ; Rui-xi LI ; Zi-wen ZHAO ; Ding-ding WANG ; Yu-mei LIU ; Zhuo-er YANG ; Rong-feng HU ; Yu-zhou CHEN
Acta Pharmaceutica Sinica 2023;58(2):339-350
Decoction is a classical dosage form of traditional Chinese medicines. In the process of decocting, various complex components produce physical interactions and chemical reactions, among which physical interactions include van der Waals force, hydrogen bond, electrostatic interaction,
7.Construction of iPSC-derived Inhibitory Neural Network Tissue with Synaptic Transmission Potentials
Li-zhi PENG ; Qing-shuai WEI ; Yuan-huan MA ; Jin-hai XU ; Bin JIANG ; Yuan-shan ZENG ; Xiang ZENG ; Ying DING
Journal of Sun Yat-sen University(Medical Sciences) 2023;44(1):18-25
ObjectiveDirected differentiation of human induced pluripotent stem cells (hiPSCs) into spinal cord γ-aminobutyric acid (GABA)-ergic progenitor cells were implanted into an decellularized optical nerve (DON) bioscaffold to construct a hiPSC-derived inhibitory neural network tissue with synaptic activities. This study aimed to provide a novel stem cell-based tissue engineering product for the study and the repair of central nervous system injury. MethodsThe combination of stepwise directional induction and tissue engineering technology was applied in this study. After hiPSCs were directionally induced into human neural progenitor cells (hNPCs) in vitro, they were seeded into a DON for three-dimensional culture, allowing further differentiation into inhibitory GABAergic neurons under the specific neuronal induction environment. Transmission electron microscopy and whole cell patch clamp technique were used to detect whether the hiPSCs differentiated neurons could form synapse-like structures and whether these neurons had spontaneous inhibitory postsynaptic currents, respectively, in order to validate that the hiPSC-derived neurons would form neural networks with synaptic transmission potentials from a structural and functional perspective. ResultsThe inhibitory neurons of GABAergic phenotype were successfully induced from hiPSCs in vitro, and maintained good viability after 28 days of culture. With the transmission electron microscopy, it was observed that many cell junctions were formed between hiPSC-derived neural cells in the three-dimensional materials, some of which presented a synapse- like structure, manifested as the slight thickness of cell membrane and a small number of vesicles within one side of the cell junctions, the typical structure of a presynatic component, and focal thickness of the membrane of the other side of the cell junctions, a typical structure of a postsynaptic component. According to whole-cell patch-clamp recording, the hiPSC-derived neurons had the capability to generate action potentials and spontaneous inhibitory postsynaptic currents were recorded in this biotissue. ConclusionsThe results of this study indicated that hiPSCs can be induced to differentiate into GABAergic progenitor cells in vitro and can successfully construct iPSC-derived inhibitory neural network tissue with synaptic transmission after implanted into a DON for three-dimensional culture. This study would provide a novel neural network tissue for future research and treatment of central nervous system injury by stem cell tissue engineering technology.
8.Expert consensus on late stage of critical care management.
Bo TANG ; Wen Jin CHEN ; Li Dan JIANG ; Shi Hong ZHU ; Bin SONG ; Yan Gong CHAO ; Tian Jiao SONG ; Wei HE ; Yang LIU ; Hong Min ZHANG ; Wen Zhao CHAI ; Man hong YIN ; Ran ZHU ; Li Xia LIU ; Jun WU ; Xin DING ; Xiu Ling SHANG ; Jun DUAN ; Qiang Hong XU ; Heng ZHANG ; Xiao Meng WANG ; Qi Bing HUANG ; Rui Chen GONG ; Zun Zhu LI ; Mei Shan LU ; Xiao Ting WANG
Chinese Journal of Internal Medicine 2023;62(5):480-493
We wished to establish an expert consensus on late stage of critical care (CC) management. The panel comprised 13 experts in CC medicine. Each statement was assessed based on the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) principle. Then, the Delphi method was adopted by 17 experts to reassess the following 28 statements. (1) ESCAPE has evolved from a strategy of delirium management to a strategy of late stage of CC management. (2) The new version of ESCAPE is a strategy for optimizing treatment and comprehensive care of critically ill patients (CIPs) after the rescue period, including early mobilization, early rehabilitation, nutritional support, sleep management, mental assessment, cognitive-function training, emotional support, and optimizing sedation and analgesia. (3) Disease assessment to determine the starting point of early mobilization, early rehabilitation, and early enteral nutrition. (4) Early mobilization has synergistic effects upon the recovery of organ function. (5) Early functional exercise and rehabilitation are important means to promote CIP recovery, and gives them a sense of future prospects. (6) Timely start of enteral nutrition is conducive to early mobilization and early rehabilitation. (7) The spontaneous breathing test should be started as soon as possible, and a weaning plan should be selected step-by-step. (8) The waking process of CIPs should be realized in a planned and purposeful way. (9) Establishment of a sleep-wake rhythm is the key to sleep management in post-CC management. (10) The spontaneous awakening trial, spontaneous breathing trial, and sleep management should be carried out together. (11) The depth of sedation should be adjusted dynamically in the late stage of CC period. (12) Standardized sedation assessment is the premise of rational sedation. (13) Appropriate sedative drugs should be selected according to the objectives of sedation and drug characteristics. (14) A goal-directed minimization strategy for sedation should be implemented. (15) The principle of analgesia must be mastered first. (16) Subjective assessment is preferred for analgesia assessment. (17) Opioid-based analgesic strategies should be selected step-by-step according to the characteristics of different drugs. (18) There must be rational use of non-opioid analgesics and non-drug-based analgesic measures. (19) Pay attention to evaluation of the psychological status of CIPs. (20) Cognitive function in CIPs cannot be ignored. (21) Delirium management should be based on non-drug-based measures and rational use of drugs. (22) Reset treatment can be considered for severe delirium. (23) Psychological assessment should be conducted as early as possible to screen-out high-risk groups with post-traumatic stress disorder. (24) Emotional support, flexible visiting, and environment management are important components of humanistic management in the intensive care unit (ICU). (25) Emotional support from medical teams and families should be promoted through"ICU diaries"and other forms. (26) Environmental management should be carried out by enriching environmental content, limiting environmental interference, and optimizing the environmental atmosphere. (27) Reasonable promotion of flexible visitation should be done on the basis of prevention of nosocomial infection. (28) ESCAPE is an excellent project for late stage of CC management.
Humans
;
Consensus
;
Critical Care/methods*
;
Intensive Care Units
;
Pain/drug therapy*
;
Analgesics/therapeutic use*
;
Delirium/therapy*
;
Critical Illness
9.Clinical treatment outcomes and their changes in extremely preterm twins: a multicenter retrospective study in Guangdong Province, China.
Bi-Jun SHI ; Ying LI ; Fan WU ; Zhou-Shan FENG ; Qi-Liang CUI ; Chuan-Zhong YANG ; Xiao-Tong YE ; Yi-Heng DAI ; Wei-Yi LIANG ; Xiu-Zhen YE ; Jing MO ; Lu DING ; Ben-Qing WU ; Hong-Xiang CHEN ; Chi-Wang LI ; Zhe ZHANG ; Xiao RONG ; Wei SHEN ; Wei-Min HUANG ; Bing-Yan YANG ; Jun-Feng LYU ; Hui-Wen HUANG ; Le-Ying HUO ; Hong-Ping RAO ; Wen-Kang YAN ; Xue-Jun REN ; Yong YANG ; Fang-Fang WANG ; Dong LIU ; Shi-Guang DIAO ; Xiao-Yan LIU ; Qiong MENG ; Yu WANG ; Bin WANG ; Li-Juan ZHANG ; Yu-Ge HUANG ; Dang AO ; Wei-Zhong LI ; Jie-Ling CHEN ; Yan-Ling CHEN ; Wei LI ; Zhi-Feng CHEN ; Yue-Qin DING ; Xiao-Yu LI ; Yue-Fang HUANG ; Ni-Yang LIN ; Yang-Fan CAI ; Sha-Sha HAN ; Ya JIN ; Guo-Sheng LIU ; Zhong-He WAN ; Yi BAN ; Bo BAI ; Guang-Hong LI ; Yue-Xiu YAN
Chinese Journal of Contemporary Pediatrics 2022;24(1):33-40
OBJECTIVES:
To investigate the clinical treatment outcomes and the changes of the outcomes over time in extremely preterm twins in Guangdong Province, China.
METHODS:
A retrospective analysis was performed for 269 pairs of extremely preterm twins with a gestational age of <28 weeks who were admitted to the department of neonatology in 26 grade A tertiary hospitals in Guangdong Province from January 2008 to December 2017. According to the admission time, they were divided into two groups: 2008-2012 and 2013-2017. Besides, each pair of twins was divided into the heavier infant and the lighter infant subgroups according to birth weight. The perinatal data of mothers and hospitalization data of neonates were collected. The survival rate of twins and the incidence rate of complications were compared between the 2008-2012 and 2013-2017 groups.
RESULTS:
Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of severe asphyxia and smaller head circumference at birth (P<0.05). The mortality rates of both of the twins, the heavier infant of the twins, and the lighter infant of the twins were lower in the 2013-2017 group compared with the 2008-2012 group (P<0.05). Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of pulmonary hemorrhage, patent ductus arteriosus (PDA), periventricular-intraventricular hemorrhage (P-IVH), and neonatal respiratory distress syndrome (NRDS) and a higher incidence rate of bronchopulmonary dysplasia (P<0.05).
CONCLUSIONS
There is a significant increase in the survival rate over time in extremely preterm twins with a gestational age of <28 weeks in the 26 grade A tertiary hospitals in Guangdong Province. The incidences of severe asphyxia, pulmonary hemorrhage, PDA, P-IVH, and NRDS decrease in both the heavier and lighter infants of the twins, but the incidence of bronchopulmonary dysplasia increases. With the improvement of diagnosis and treatment, the multidisciplinary collaboration between different fields of fetal medicine including prenatal diagnosis, obstetrics, and neonatology is needed in the future to jointly develop management strategies for twin pregnancy.
Bronchopulmonary Dysplasia/epidemiology*
;
Female
;
Gestational Age
;
Humans
;
Infant
;
Infant, Extremely Premature
;
Infant, Newborn
;
Pregnancy
;
Respiratory Distress Syndrome, Newborn/epidemiology*
;
Retrospective Studies
;
Treatment Outcome
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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