Diabetic peripheral neuropathy is the most common chronic complication in diabetic patients and a major risk factor for diabetic foot，fracture，and non⁃traumatic amputation. Cardiovascular autonomic neuropathy is also a major risk factor for cardiovascular events and death in diabetics. Because diabetic peripheral neuropathy frequently has no specific symptoms at the early stage，and more than half of patients have no symptoms，it is frequently diagnosed at an advanced stage，which has a serious impact on patients′ quality of life and mortality.However，there is currently no effective treatment for diabetic peripheral neuropathy. As a result，diabetic peripheral neuropathy is also known as the“silent killer”. This article reviews the key clinical issues of diabetic peripheral neuropathy based on the most recent guidelines and consensus，with the goal of improving clinical attention and early prevention and control of diabetic peripheral neuropathy. 

Objective Toinvestigate the clinical phenotype and molecular genetic characteristics of Maturity⁃ onset diabetes of the youngtype 2（MOYD2），and to explore the correlations between GCK genotype and clinical phenotypes. Methods From April 2011 to October 2021，clinical data of 32 children diagnosed with MODY2 in Department of Endocrinology of Guangzhou Women and Children′s Medical Center were collected. Sanger sequenc⁃ ing and family investigation for GCK gene were conducted. Parents of the children without GCK gene variation were assayed for the whole exon profile and their molecular genetic characteristics were analyzed in depth. Results A total of 32 children（male=19 and female=13）with the onset age ranging from 1⁃day to 18⁃year old were included and the medium value was approximately 8⁃ year old. Fasting blood glucose was slightly elevated in all patients， with mean value of（6.7 ± 0.6）mmol/L，and the mean value of HbA1c was（5.9 ± 0.96%）. All patients didn′t present the symptoms caused by hyperglycemia. The levels of blood glucose in the 31 patients remained stable during the follow⁃up 4 months till 75 months. A total of 30 different heterozygous variants were found in the 32 children， including 5 new variants and 2 spontaneous variants. Conclusions Mild hyperglycemia occurred in children with⁃ MODY2 after birthand there was no significant difference for the clinical phenotypes caused by different GCK gene variations. Children with no family history but highly suggestive of MODY2 should undergo GCK gene sequencing to avoid missed diagnosis，and relevant family members should be screened to aid the optimization of treatment plan. No hot spot variation of GCK gene was found in this study. 

Objective To explore the effects of nursing intervention based on information⁃motivation⁃ behavioral skills model（IMB）on maternal ⁃infant delivery outcomes in patients with gestational diabetes mellitus （GDM）. Methods 160 patients with GDM who were hospitalized in thedepartment of obstetrics of ourhospital were enrolled and divided into an IMB group and a traditional health education group according to the simple random grouping method，with 80 in each group. The intervention endpoint was before delivery and the patients were followed up to 12 weeks after delivery. The insulin treatment status during intervention，controloffasting plasma glucose（FPG）and glycosylated hemoglobin（HbA1c）before and after intervention，and adverse maternal ⁃infant delivery outcomes were compared between the two groups，and the abnormal glucose metabolism statuswas assessed 6 to 12 weeks after delivery. Results The insulin treatment rate was lower in the IMB group thanin thetraditional health education groupduring intervention（P < 0.05）. After intervention，FPG and HbA1c were reduced in both groups as compared with those before intervention，and the two indicators were lowerin the IMB group thanin thetraditional health education group after intervention（P < 0.05）. The rate of Cesarean section，incidence of neo⁃ natal respiratory distress syndrome，andtotal incidence of abnormal glucose metabolism at 12 weeks of follow ⁃ up were lower in the IMB group than in thetraditional health education group（P < 0.05）. Conclusions Nursing inter⁃ vention based on IMB model is more effective than traditional health education in the control of blood glucose，and it can improve maternal⁃infant outcomes and reduce occurrence of abnormal glucose metabolism after delivery.

Objective To analyze and explore the differential gene expression and pathogenesis of early diabetic nephropathy with bioinformatics analysis，and to explore the pathogenesis of diabetic nephropathy and provide new molecular therapeutic targets for it. Methods In this study，the data set GSE142025 was obtained from the GEO database for bioinformatics analysis，and the differentially expressed genes were screened in the early diabetic nephropathy group（eDN group）when compared with those in normal control group（NC group）. The enrichment pathways of differentially expressed genes were analyzed by GSEA，and HUB genes were identified by protein interaction network（PPI）analysis. The relative expression levels of target genes in kidney tissue were detected by immunohistochemistry and RT ⁃qPCR. Results A total of 1，859 differentially expressed genes were screened using P < 0.05 and |log2FC| > 1 as the criteria in the eDN group. Among them，the expression of 1，063 was up ⁃ regulated and that of 796 down ⁃ regulated. The KEGG pathway enrichment of differential genes in GSEA showed that the eDN group weresignificantly up ⁃ regulated in the“JAK ⁃ STAT pathway”，“Cytokine receptor pathway”，“Chemokine signaling pathway”，“Cell adhesion molecule pathway”，and“Extracellular matrix receptor interaction”. As a HUB gene，the expression of CCR2 was significantly up⁃regulated in eDN；immunohistochemistry and RT⁃qPCR showed that the relative expression of CCR2 in eDN group was significantly higher than that in NC group（all P < 0.05）. Conclusion KEGG analysis of functional enrichment mainly shows that the inflammatory pathway is activated，and the expression of CCR2 is significantly up ⁃ regulated in eDN kidney tissue，suggesting that it may play an important role in the occurrence and development of eDN.

Objective To study the relationship between 12026 A→G mutation of mitochondrial ND4 gene and hemodynamics of central retinal artery（CRA）in diabetic retinopathy（DR）patients. Methods Mito⁃ chondrial ND4 gene mutations were screened in 198 Korean patients with type 2 diabetes mellitus（T2DM）in Yan⁃ bian Autonomous Prefecture by polymerase chain reactor⁃restriction fragment length polymorphism（PCR⁃RFLP）. Then they were divided into mutation（n = 67）and non ⁃ mutation（n = 131）groups. Color Doppler ultrasound （CDUS）was used to measure the hemodynamic parameters of CRA. Results Compared to the non ⁃ mutation group，the pulsatile index（PI）and resistance index（RI）of CRA in the mutation group were both significantly increased，and the highest flow rate（Vmax），lowest flow rate（Vmin），mean flow rate（Vmean）and blood flow velocity integral（VTI）were all significantly decreased. Conclusion 12026 A→G mutation of mitochondrial ND4 gene is correlated with hemodynamic changes of CRA in DR patients.

Aortic dissection is a rapid onset disaster，and has high mortality. At present，endovascular aor⁃ tic repair has become the main treatment for Stanford B aortic dissection. Although endovascular aortic repair signif⁃ icantly reduces the incidence of surgical complications and mortality，when aortic dissection involving important branch vessels，the stent only covering dissection tear cannot meet the clinical needs. Therefore，hybrid surgery， chimney technology，fenestration technology and branch stent technology have shown outstanding advantages in retaining important branch blood vessels. This article reviews the current endovascular repair of aortic dissection combining hemodynamic factors，and provide reference for clinical selection of appropriate treatment methods.

Objective To investigate the effect of salidroside（SAL）regulation on improving inflammation and airway remodeling associated with chronic obstructive pulmonary disease （COPD）in rats and its possible mechanism. Methods The COPD rat model was established by smoking method and randomly divided into normal group，model group，SAL low⁃dose and high⁃dose groups，positive control group. The general condition of the rats was observed，and the pulmonary function of the rats in each group was detected by the small animal pulmonary function tester；the serum inflammatory factors of the rats were detected by ELISA. The pathology of the rat lung tissue was observed by HE staining.The area of airway smooth muscle and collagen was observed by Masson staining. Western blot detection of peroxisome proliferator ⁃ activated receptor ⁃ γ（PPAR ⁃ γ）/transforming growth factor β1（TGF⁃β1）/Drosophila maternally derived skin growth factor（Smad）2/3 pathway in lung tissue Protein. Results Compared with the normal group，the levels of FEV0.1/FVC，PEF and serum IL⁃10 in the model group were decreased，and the serum IL⁃8 level was increased. There were a large number of inflammatory cells infiltration in the bronchial wall，septum and surrounding blood vessels，the alveolitis score was increased，and the smooth muscle was significantly increased. Hyperplasia and hypertrophy，significantly increased airway collagen deposi⁃ tion，increased WAm/Pbm，Wcol/Pbm values，up⁃regulated p⁃PPAR⁃γ protein expression in lung tissue，down⁃ regulated TGF⁃ β1，p⁃Smad2/3 protein expression（P < 0.05）. After the intervention of various doses of SAL， the rats′ FEV0.1/FVC，PEF value and serum IL⁃10 level increased，serum IL⁃8 level decreased，bronchial wall， septum and perivascular inflammatory cell infiltration decreased ，and alveolitis score decreased，smooth musclehyperplasia and hypertrophy improved ，airway collagen deposition decreased ，WAm/Pbm，Wcol/Pbm values decreased，p⁃PPAR⁃γ protein expression in lung tissue was down⁃regulated，TGF⁃β1，p⁃Smad2/3 protein expression was up⁃regulated（P < 0.05）. Conclusion SAL can reduce COPD⁃related inflammation and reverse airway remod⁃ eling in rats，which may be related to the regulation of PPAR⁃γ/TGF⁃β1/Smad2/3 pathway.

Objective To investigate the effect and action mechanism of Yutaro polysaccharide（YLSPS） on lipopolysaccharide（LPS）⁃induced inflammatory injury and apoptosis of human thyroid follicular epithelial cells. Methods After being treated with different concentrations of YLSPS，the LPS⁃induced human thyroid follicular epithelial cells Nthy⁃ori3⁃1 were transfected with the Caveolin⁃1 overexpressed vectors. The levels of interleukin 1 （IL⁃1），interleukin 6（IL⁃6），and monocyte（MCP⁃1）chemotactic protein 1 were measured by enzyme⁃linked immunosorbent assay，and apoptosis was measured by flow cytometry. The Caveolin ⁃ 1 mRNA expression levels were measured by quantitative real ⁃time PCR（RT ⁃qPCR）and Caveolin ⁃1 protein expression was determined by protein blotting（Western Blot）. The thyroiditis model mice were treated with YLSPS and the thyroid tissues in each group were observed in view of morphologybymicroscopy. Results YLSPS reduced the levels of IL⁃1，IL⁃6 and MCP⁃1 and apoptosis（P < 0.05）in the LPS⁃induced cells，and promoted the mRNA and protein expression levels of Caveolin⁃1（P < 0.05）in the cells in a dose⁃dependent manner. Overexpressed Caveolin⁃1 also decreased the levels of IL⁃1，IL⁃6，and MCP⁃1 and the rate of apoptosis in the Nthy⁃ori3⁃1 cells.YLSPS improved the thyroid tissue in morphology，reduced IL⁃1，IL⁃6，and MCP⁃1 levels in the mouse serum，and promoted Caveolin⁃1 pro⁃ tein expression in the thyroid tissues. Conclusion YLSPS can inhibit the inflammatory damage and apoptosis in Nthy⁃ori3⁃1 cells，and its mechanism of action is related to the upregulation of Caveolin⁃1 expression. 

Objective To explore the mechanism of exosomal miR ⁃ 130 in mouse atrial myocytes in the pathogenesis of atrial fibrillation（AF）. Methods Following Ang Ⅱ treatment，mouse atrial myocytes were trans⁃ fected with miR⁃130 shRNA lentivirus（sh⁃miR⁃130）or control（sh⁃Crtl）. Exosomes were isolated from the treated atrial myocytes and then co ⁃cultured with THP ⁃ 1 macrophages. Flow cytometry was performed to examine the percentages of CD86⁃ and CD163⁃positive macrophages. In addition，by constructing a transverse aortic arch coarc⁃ tation（TAC）mouse model and injecting sh⁃miR⁃130 into mice to knock down miR⁃130 expression，the role of miR⁃130 in cardiac fibrosis and macrophages polarization in vivo was further studied. Results The expression of miR⁃130 was increased in AngⅡ⁃treated atrial myocyte⁃derived exosomes（AngII⁃Exo）. By transferring miR⁃130， AngⅡ⁃Exo induced M1 polarization in macrophages. TAC mice with or without sh⁃Ctrl control treatment had signifi⁃ cantly higher levels of miR⁃130，whereas TAC mice with sh⁃miR⁃130 injection had significantly lower levels. sh⁃miR⁃130 significantly improved cardiac structure and reduced myocardial size and fibrosis levels in TAC mice. In addition，iNOS + /CD68 + macrophages had significantly decreased while CD163 + /CD68 + macrophages had signifi⁃ cantly increased in left atrial tissue of TAC mice after sh⁃miR⁃130 treatment. Conclusion Exosomes from AngⅡ⁃ treated atrial myocytes have higher levels of miR⁃130 expression，and exosomes promote M1 macrophage polariza⁃ tion by transferring miR⁃130. 

Objective To investigate the impact of high glucose on senescence of rat synovial mesenchymal stem cells（SMSCs）so as to provide a reference for risk management of SMSCs in the treatment of osteoarthritis in diabetic patients. Methods The rat SMSCs were divided into control group（physiological concentration of glucose with 5.5 mmol/L）and treatment group（high glucose with 25 mmol/L）. The senescence of rat SMSCs was detected， including cell proliferation，SA⁃β⁃Gal staining，mRNA expression of SASP（IL⁃6，MMP⁃13，TNF⁃α，CXCL1，IFN⁃β）， intracellular mitochondrial damage，p21 protein expression，and hyaluronic acid release. Results The high glucose medium did not affect the proliferation of SMSCs in the rats（P = 0.675）. Also，the high glucose medium enhanced the number of SA⁃β⁃Gal staining positive cells，the fragmentation of intracellular mitochondrial，and the mRNA expression of SASP，namely MMP⁃13（P = 0.011），TNF，TL⁃6，INFβ（P = 0.000），CXCL1（P = 0.003）. Meanwhile， the Western blot and ELISA results demonstrated significant down ⁃ regulated expressions of P21（P = 0.00）and hyal⁃ uronic acid（P = 0.002）. Conclusion High glucose induces senescence and biological function impairment of SMSCs in rats. The clinical effect of SMCSs in the treatment of osteoarthritis in diabetic patients remains to be confirmed. 

Objective To analyze the clinical manifestation and treatment effect of endometriosis（EMs） in adolescent，to explore appropriate treatment and timingfor adolescent EMs patients. Methods We retrospectively analyzed the clinical data of 89 adolescent（age ≤ 21 years）EMs patients hospitalized from 2011 to 2018. Eighty⁃ six patients were diagnosed as ovarian endometrioma（OE）and 3 patients as peritoneal EMs.Withrandom sampling， another 89 adult OE patients hospitalized in the same periodwere enrolled for comparative analysis. Results （1） Compared to those in adult group，higher dysmenorrhea rate；shorter interval time from dysmenorrhea happened to menarche and earlier menarche age were found in adolescent group.（2）Adolescent group had larger cyst diameter than adult group（P < 0.005）and 9 patients had underwent emergency surgery because of ovarian cyst rupture. （3）Laparoscopic conservative surgery was completed successful in 91.01% of the patients in adolescent group and in 86.52% in adult group. Most of the patients were diagnosed as stage Ⅲ/Ⅳ in the two groups.（4）Dysmenorrhea release rate and 3 years post operation recurrence rate was 68.29%（28/41）and 18.87%（10/53）respectively in adolescent group. Close of Douglas′ cul ⁃ de ⁃ sacmay have relationship with post operation recurrence. Conclusion Adolescent EMs is featured by early onset，and OE is the mainly classification. OE of adolescent patients has the featuresof larger ovarian cyst diameter than OE of adult patients and has the possibility to rupture，which requires surgery as soon as possible. Laparoscopic conservative surgery is an effective treatment for OEin adolescent patients， and close of Douglas′ cul⁃de⁃sacmay have relationship with post operation recurrence.

Objective To investigate the clinical efficacy and safety of 3D microscopy ⁃assisted posterior pedicle screw fixation in the treatment of atlantoaxial fracture and dislocation. Methods 36 patients with upper cervical fracture and dislocation who had treated in our hospital from January 2015 to June 2020 were analyzed retrospectively. 15 patients received pedicle screw fixation assisted by 3D microscopy（3D group），and 21 received pedicle screw fixation assisted by ordinary microscopy（OM group）. The indexes of perioperative period，clinical efficacy and safety were compared between the two groups. Results The surgical duration was（162.33 tioncy and in the 3D group and（187.59 ± 29.45）min in the OM group，and it was significantly shorter in the 3D group than in the OM group（P < 0.05）. There were no significant differences in other perioperative indexes between the two groups（P > 0.05）. After operation，the neck pain was significantly relieved in all the patients and the neurological symptoms were alleviated at varying degrees（P < 0.01）. There were significant differences in the scores on VAS and JOA between the preoperative baselines and postoperative year one，but there was no significant difference between the two groups（P > 0.05）. A total of 68 upper cervical pedicle screws were placed in the 3D group，62 of which were in grades 0 andⅠ，with a satisfactory rate of 91.18%. In the OM group，there were 96 upper cervical pedicle screws，84 of which were in grades 0 andⅠ，with a satisfactory rate of 87.50%. There was no significant difference in the satisfactory rate between the two groups（P > 0.05）. No complications such as nerve injury，dural rupture，and vertebral artery injury were found in both groups. The incidence of surgery⁃related complications was 13.33% in the 3D group and 23.81% in the OM group. There was no statistical difference in the incidence of com⁃ plications between the two groups（P > 0.05）. Conclusions Both 3D and ordinary microscopy ⁃ assisted pediclescrew fixation are effective and safe in the treatment of upper cervical fracture and dislocation，but the surgical duration is shorter under 3D microscopy and the incidence of complications may be lower.

Objective To compare the clinical efficacy of tranexamic acid by peri⁃articular injection vs. intra ⁃ articular perfusion for reducing postoperative bleeding during total knee arthroplasty. Methods A total of 140 patients with knee osteoarthritis who were admitted into our hospital from June 2018 to February 2020 for total knee arthroplasty were selected and randomly divided into observation group and control group in equal number， treated with peri⁃articular injection and intra⁃articular perfusion with tranexamic acid，respectively. The two groups were compared in terms of total postoperative blood loss，24⁃hour drainage volume and hidden blood loss at day 3 postoperatively，as well as NRS scores，circumference of thigh，superior patella and calf at days 5 and 10 post⁃ operatively. Results There were no significant differences in total blood loss and hidden blood loss at day 3 after operation between the groups. The 24⁃hour drainage volume of the observation group was significantly higher than that of the control group. There were no significant differences in the NRS score and lower limb swelling between the two groups at days 5 and 10 after operation. There was no significant difference in postoperative thrombotic complications between the two groups. Conclusion During total knee arthroplasty，peri ⁃ articular injection with tranexamic acid is as effective in reducing postoperative bleeding as intra⁃articular perfusion with the acid. However， it is still a good choice in consideration of the drainage tube⁃involved risks.

Objective The aim of this study was to explore the relationship between changes of circadian rhythm types in the perioperative period and acute pain after cesarean section. Methods A total of 148 patients who underwent cesarean section in Shunde Women′ s and Children′ s Hospital of Guangdong Medical University from November 2020 to September 2021 were recruited. The patients were grouped according to the results of the morning and evening questionnaires（MEQ⁃SA）before and 3 days after delivery. Patients with different question⁃ naire results were classified as exposure groups，and patients with the same types were the control group. Results There were 21 people in the exposure group and 127 people in the control group. The weight and BMI of the control group were higher，and there was no significant difference in age，parity，and height. The NRS score on day1 was significantly higher than that of the control group（P < 0.05）. In the primipara subgroup，iatrogenic sleep interrup⁃ tions in the exposure group on the night after surgery were significantly higher than that in the control group（P < 0.05）； perioperative⁃related factors such as age，height，and weight were included to construct a multivariate Logistic regression equation. The results showed that the lower the body weight（OR = 0.93，95%CI：0.89 ~ 0.97，P < 0.001）， more iatrogenic sleep interruptions on the night after surgery（OR = 1.89，95%CI：1.09 ~ 3.27，P = 0.024），The higher the pain NRS score on the 1st day after surgery（OR = 2.25，95%CI：1.10 ~ 4.61，P = 0.026），are related to the higher the risk of perioperative circadian rhythm changes；patients with intermediate circadian rhythms before surgery，The risk of circadian rhythm changes was lower（OR = 0.12，95%CI：0.02 ~ 0.58，P = 0.009）. Conclusion Perioperative circadian rhythm changes are associated with increased acute pain after cesarean sec⁃tion，and with body weight，iatrogenic sleep interruptions，and preoperative circadian rhythm patterns，and there is significant heterogeneity between primipara and multiparous women.

Objective To investigate the guidance of delivery mode and its effect on maternal and infant outcomes by intrapartum ultrasound in the prolongation of the second labor stage. Methods 262 parturients were selected as the study subjects，the angle of progression（AOP），head⁃perineum distance（HPD）and uterine expansion were detected by perineal ultrasound. The delivery time and delivery outcome were recorded，the predic⁃ tive value of AOP and HPD in natural delivery was analyzed，and the differences of delivery mode and delivery time of parturients with different ultrasonic characteristics were compared. Results Compared with natural delivery， AOP of midwifery and cesarean section group decreased significantly，and the proportion of non occipital anterior fetal orientation increased significantly（P < 0.05）. AOP and HPD have certain predictive value for vaginal sponta⁃ neous delivery（AUC > 0.7），and the best cutoff values are 124.77 ° and 4.62 cm，respectively. The natural delivery rate of women with AOP > 135 ° was significantly higher than that of women with AOP ≤ 135 °，and the natural delivery rate of women with HPD ≤ 4 cm was significantly higher than that of women with HPD > 4 cm（P < 0.001）. The delivery time of women with AOP > 135 ° was significantly lower than that of women with AOP ≤ 135 °（P < 0.05），and that of women with HPD ≤ 4 cm was significantly lower than that of women with HPD > 4 cm（P < 0.05）. Conclusions The measurement of AOP and HPD by intrapartum ultrasound in the second stage of labor can evaluate the mode of delivery and the length of delivery，which is helpful to improve the safety of mothers and infants during delivery. 

Objective To investigate the feasibility of two conscious sedation regimens guided by bispectral index（BIS）without anesthesiologist involved during bronchoscopy. Methods Patients who underwent bronchoscopy in the Third Affiliated Hospital of Medical College of Suzhou University from September 2018 to July 2019，were divided into local anesthesia group（group A，lidocaine）and sedation group（BIS guided，without anesthesiologist involved）according to the patients′ decision. Patients in the the sedation group were numbered according to the order of examination，randomly divided into group B（dexmedetomidine combined with midazolam）and group C （fentanyl combined with midazolam）. Vital signs at different time points and adverse events were recorded during bronchoscopy. The sedation effect were evaluated by operators and patients respectively. Results A total of 658 patients were in the study（225 cases in group A，222 in group B，211 in group C）. The complexity of scope insertion assesed by operators and sedation effect evaluated by patients in sedation group was better than those in group A （P < 0.001），while has no significant difference between group B and C；The cough VAS score，satisfaction VAS score evaluated by operators in group C were better than those in group A and B（P < 0.001）；As to the adverse events：the incidence of hypoxemia and bradycardia in sedation group was higher while hypertension and tachycar⁃ dia was lower than that in group A. In group B，the incidence of hypoxemia was lower while that of bradycardia was higher than that in group C（P < 0.001）；Vital signs：The fluctuation of blood pressure was minimal in group B， and maximum in group A（P < 0.001）；Compared to pre⁃operation，the heart rate increased more in group A than that of group C，while declined in group B（P < 0.001）. Conclusion Compared to local anesthesia，conscioussedation guided by BIS without anesthesiologist involved was safe and effective. Compared with the two sedation protocols，dexmetomidine combined with midazolam appeared less hypoxemia，reduced the fluctuation of blood pressure and heart rate during bronchoscopy，though was prone to hypotension and bradycardia. 

Objective To investigate the incidence and genetic testing results of congenital adrenal hyper⁃ plasia（CAH）in Guangxi，China. Methods A total of 391，714 newborns born in 168 midwifery hospitals in the region from 2015 to 2021 were selected as subjects. The time⁃resolved fluorescence method was used to detect 17⁃hydroxyprogesterone（17⁃OHP）. The suspected positive children were recalled for retesting，which was done together with relevant clinical auxiliary tests. Sanger sequencing combined with multiplex ligation ⁃dependent probe amplification（MLPA）technology was used to detect the CYP21A2 genes in the children and determine the genotypes. Results Among the 391，714 newborns，1，769 were initially positive for CAH，and 21 were diagnosed between 2 and 27 days old，with an incidence of 1/18653. At the same time，gene mutations were found in all diagnosed children，and CYP21A2 gene variation was diversified，among which c. 293⁃13A/C > G was the frequent mutation， with an incidence of 33%. Conclusions By 21⁃hydroxylase genic testing，the point mutation and large fragment deletion of CYP21A2 gene can be detected. Combined with the elevation of 17⁃OHP and clinical manifestations，CAH in children can be effective diagnosed，thereby preventing the occurrence of life⁃threatening adrenal cortical crisis.