1.Establishment of HPLC fingerprints and content determination of eight constituents for freeze-dried powder of Yinhuo Decoction
Jing HU ; Ya-Ming DING ; Shuang LIU ; Yue QIAO ; Yue ZHANG ; Hong-Dan XU ; Ning ZHANG ; Ji-Hui ZHAO
Chinese Traditional Patent Medicine 2024;46(8):2499-2505
AIM To establish the HPLC fingerprints for freeze-dried powder of Yinhuo Decoction,and to determine the contents of rehmannitin D,methylophiopogonanone A,verbascoside,protocatechuic acid,catalpol,schisandrol A,schisandrin B,schisandrin A.METHODS The fingerprint esablishment was performed on a 30℃thermostatic Supersil AQ18 column(4.6 mm×250 mm,5 μm),with the mobile phase comprising of acetonitrile-0.1%phosphoric acid flowing at 1.0 mL/min in a gradient elution manner,and the detection wavelength was set at 230 nm.The UPLC-MS/MS content determination was performed on a 30℃thermostatic Alphasil VC-C18 column(2.1 mm×100 mm,2.5 μm),with the mobile phase comprising of acetonitrile-0.1%formic acid flowing at 0.3 mL/min in a gradient elution manner,and electron spray ionization source was adopted in positive and negative ion scanning with multiple reaction monitoring mode.RESULTS There were 17 common peaks in the fingerprints for 10 batches of freeze-dried powder with the similarities of more than 0.90.and piloside,crystal blue glycoside,deacetylated caryoside schisandrin A were identified.Eight constituents showed good linear relationships within their own ranges(R2>0.990 6),whose average recoveries were 98.7%-101.1%with the RSDs of 2.0%-5.2%.CONCLUSION The combination of fingerprints and content determination can completely characterize the quality of Yinhuo Decoction reference sample,thus provide a reference for the quality evaluation of its key chemical properties.
2.Analysis of tuberculosis epidemiological characteristics and drug resistance among the floating population in Beijing in 2019.
Xin Yu YANG ; Shuang Shuang CHEN ; Jun Li YI ; Yan Feng ZHAO ; Hao CHEN ; Xiao Wei DAI ; Bei Chuan DING ; Meng Di PANG ; Qiao LI ; Zhegn Ying ZHAO ; Chuan You LI
Chinese Journal of Epidemiology 2023;44(6):949-953
Objective: To analyze the epidemic characteristics and drug resistance of pulmonary tuberculosis among the floating population in Beijing and to provide a scientific basis for formulating strategies for the prevention and control of tuberculosis among the floating population. Methods: Data of tuberculosis patients who were positive for Mycobacterium tuberculosis culture was collected from 16 districts and one municipal institution of tuberculosis control and prevention in Beijing in 2019. The strain samples were tested for drug sensitivity by the proportional method. According to household registration location, patients were divided into the floating population and Beijing registration. SPSS 19.0 software analyzed tuberculosis patients' epidemic characteristics and drug resistance in the floating population. Results: In 2019, there were 1 171 culture-positive tuberculosis patients in Beijing, among the floating population, 593 (50.64%) patients were identified, with a male-to-female sex ratio of 2.2∶1 (409∶184). Compared to patients under household registration as Beijing residents, a higher proportion of young adults aged 20-39 years (65.09%,386/593) were noticed, with 55.65% (330/593) reported from the urban areas and 96.80% (574/593) were reported the first time. The differences were statistically significant (all P<0.05). After completing the drug sensitivity test, 37 cases were with multiple drug-resistant tuberculosis, accounting for 6.24% (37/593). The rates of isoniazid resistance (42.11%,8/19) and multidrug resistance (21.05%,4/19) in floating population patients after retreatment were significantly higher than those in newly treated patients (11.67%, 67/574 and 5.75%, 33/574), and the differences were statistically significant (all P<0.05). Conclusions: Most patients with tuberculosis in the floating population in Beijing in 2019 were young males aged 20-39 years. The reporting areas were urban areas and the newly treated patients mainly. The patients with tuberculosis in the re-treated floating population were more likely to suffer from multidrug and drug resistance, which should be taken as the key population for prevention and control.
Young Adult
;
Humans
;
Female
;
Male
;
Beijing/epidemiology*
;
Tuberculosis
;
Tuberculosis, Pulmonary/epidemiology*
;
Tuberculosis, Multidrug-Resistant/epidemiology*
;
Drug Resistance
3.Effects of Compound Danshen Dripping Pills on Ventricular Remodeling and Cardiac Function after Acute Anterior Wall ST-Segment Elevation Myocardial Infarction (CODE-AAMI): Protocol for a Randomized Placebo-Controlled Trial.
Yu-Jie WU ; Bo DENG ; Si-Bo WANG ; Rui QIAO ; Xi-Wen ZHANG ; Yuan LU ; Li WANG ; Shun-Zhong GU ; Yu-Qing ZHANG ; Kai-Qiao LI ; Zong-Liang YU ; Li-Xing WU ; Sheng-Biao ZHAO ; Shuang-Lin ZHOU ; Yang YANG ; Lian-Sheng WANG
Chinese journal of integrative medicine 2023;29(12):1059-1065
BACKGROUND:
Ventricular remodeling after acute anterior wall ST-segment elevation myocardial infarction (AAMI) is an important factor in occurrence of heart failure which additionally results in poor prognosis. Therefore, the treatment of ventricular remodeling needs to be further optimized. Compound Danshen Dripping Pills (CDDP), a traditional Chinese medicine, exerts a protective effect on microcirculatory disturbance caused by ischemia-reperfusion injury and attenuates ventricular remodeling after myocardial infarction.
OBJECTIVE:
This study is designed to evaluate the efficacy and safety of CDDP in improving ventricular remodeling and cardiac function after AAMI on a larger scale.
METHODS:
This study is a multi-center, randomized, double-blind, placebo-controlled, parallel-group clinical trial. The total of 268 patients with AAMI after primary percutaneous coronary intervention (pPCI) will be randomly assigned 1:1 to the CDDP group (n=134) and control group (n=134) with a follow-up of 48 weeks. Both groups will be treated with standard therapy of ST-segment elevation myocardial infarction (STEMI), with the CDDP group administrating 20 tablets of CDDP before pPCI and 10 tablets 3 times daily after pPCI, and the control group treated with a placebo simultaneously. The primary endpoint is 48-week echocardiographic outcomes including left ventricular ejection fraction (LVEF), left ventricular end-diastolic volume index (LVEDVI), and left ventricular end-systolic volume index (LVESVI). The secondary endpoint includes the change in N terminal pro-B-type natriuretic peptide (NT-proBNP) level, arrhythmias, and cardiovascular events (death, cardiac arrest, or cardiopulmonary resuscitation, rehospitalization due to heart failure or angina pectoris, deterioration of cardiac function, and stroke). Investigators and patients are both blinded to the allocated treatment.
DISCUSSION
This prospective study will investigate the efficacy and safety of CDDP in improving ventricular remodeling and cardiac function in patients undergoing pPCI for a first AAMI. Patients in the CDDP group will be compared with those in the control group. If certified to be effective, CDDP treatment in AAMI will probably be advised on a larger scale. (Trial registration No. NCT05000411).
Humans
;
ST Elevation Myocardial Infarction/therapy*
;
Stroke Volume
;
Ventricular Remodeling
;
Prospective Studies
;
Microcirculation
;
Ventricular Function, Left
;
Myocardial Infarction/etiology*
;
Treatment Outcome
;
Percutaneous Coronary Intervention/adverse effects*
;
Heart Failure/drug therapy*
;
Drugs, Chinese Herbal/therapeutic use*
;
Randomized Controlled Trials as Topic
;
Multicenter Studies as Topic
4.The impact of " staging" hybrid coronary artery revascularization on the short-and long-term efficacy of patients with multiple coronary artery lesions
Mei JIN ; Qingbo QIAO ; Shuang GAO ; Jingwen ZHAO ; Xiaoxing ZHANG ; Xiaofeng CHEN ; Youyu WANG
Journal of Chinese Physician 2023;25(10):1511-1515
Objective:To investigate the impact of " staging" hybrid coronary artery revascularization (HCR) on the short-and long-term efficacy of patients with multiple coronary artery lesions.Methods:A retrospective case-control study was conducted. Eighty patients with multiple coronary artery lesions admitted to the Baoding Second Central Hospital from January 2017 to October 2018 were selected and divided into two groups according to different surgical methods. Forty patients were treated with " staging" HCR and were designated as the HCR group, and 40 patients were treated with off-pump coronary artery bypass grafting (OPCAB) and were designated as the OPCAB group. The perioperative related indicators and perioperative serious complications were compared between the two groups. The serum myocardial injury marker levels were detected preoperatively and 48 hours postoperatively, including heart-type fatty acid binding protein (H-FABP) and troponin I (cTnI). All subjects were followed up for at least 3 years to calculate the incidence of major adverse cardiovascular and cerebrovascular events (MACCE).Results:The bypass surgery time, mechanical ventilation time, ICU stay time, and total hospital stay time in the HCR group were all less than those in the OPCAB group (all P<0.05), and the incision length in the HCR group was shorter than that in the OPCAB group ( P<0.05). The intraoperative bleeding volume, postoperative 24-hour drainage volume, red blood cell transfusion volume, and plasma transfusion volume in the HCR group were all less than those in the OPCAB group (all P<0.05). Forty-eight hours after surgery, the serum H-FABP and cTnI levels in both groups were significantly higher than those preoperatively (all P<0.05), but the increase was more significant in the OPCAB group (all P<0.05). The perioperative serious complication rate in the HCR group was 2.50%(1/40), which was significantly lower than that in the OPCAB group [20.00%(8/40)] ( P<0.05). During the 3-year follow-up after surgery, the MACCE incidence in the HCR group was 12.50%(5/40), and that in the OPCAB group was 22.50%(9/40). There was no significant difference in the long-term MACCE incidence between the two groups ( P>0.05). Conclusions:" Staging" HCR treatment for multiple coronary artery lesions can achieve ideal surgical results. Compared with OPCAB, its short-term efficacy is more significant, and long-term efficacy is equivalent.
5.Efficacy of nutrition intervention combined with rehabilitation exercise in elderly patients with chronic heart failure complicated by sarcopenia
Hui HU ; Shaoping GAO ; Ayun ZHAO ; Xi WANG ; Yunyun WANG ; Kejing WANG ; Shuang LIU ; Shaoxi YAN ; Wei QIAO
Chinese Journal of Health Management 2023;17(11):811-815
Objective:To analyze the efficacy of nutrition intervention combined with rehabilitation exercise in elderly patients with chronic heart failure (CHF) complicated by sarcopenia.Methods:In this randomized controlled trial, seventy CHF patients with sarcopenia, aged 80 years or older, who had received standard CHF medication treatment and had stable conditions with preserved ejection fraction (HFpEF) from June 2021 to October 2022 at the China-Japan Friendship Hospital outpatient clinic were continuously selected. The patients were randomly divided into a test group ( n=35) and a control group ( n=35) using a random number table. The test group continued the original heart failure medication treatment, and on the basis of daily meal, supplemented with whey protein powder [37 g per serving (including 16.2 g of whey protein, 145 kcal), twice a day]; they were given resistance exercise primarily focused on resistance training (5 sets of exercises, progressively increasing to 3 days per week, twice a day, 5 sets per session, 20 repetitions per set). The control group maintained the original heart failure medication treatment plan and lifestyle. The body mass index, appendicular skeletal muscle mass index (ASMI), grip strength, Five-Times-Sit-to-Stand Test, 6-meter walking speed, 6-minute walk test, brain natriuretic peptide (BNP), left ventricular ejection fraction, ratio of early mitral flow peak velocity to early mitral annulus diastolic peak velocity (E/e′), serum albumin, hemoglobin, and serum creatinine were compared between the two groups before and after 3 months of intervention using t-tests and chi-square tests to analyze the efficacy of nutrition intervention combined with rehabilitation exercise in elderly patients with CHF complicated by sarcopenia. Results:Among the 70 patients, there were 42 males and 28 females. There was no significant difference in baseline data between the test group and the control group (all P>0.05). After 3 months of intervention, ASMI, grip strength and 6 min walking distance in the test group were all significantly higher than those in the control group [(6.43±1.07) vs (6.09±0.86) kg/m 2, (27.75±2.13) vs (23.45±0.47) kg, (361.51±58.71) vs (273.50±69.85) m], and significantly higher than those before intervention [(5.99±1.45) kg/m 2, (23.55±9.64) kg, (273.50±69.86) m]. The time of Five-Times-Sit-to-Stand Test, BNP and E/e′ in the test group were both significantly lower than those in the control group [(11.20±2.09) vs (15.36±0.46) s, (278.80±58.69) vs (400.80±87.86) ng/L, (11.10±0.81) vs (14.66±1.90)], and significantly lower than those before intervention [(18.51±2.90) s, (407.50±122.74) ng/L and (14.00±1.15)]. There was no significant difference in remaining indicators between the two groups (all P>0.05). Conclusion:Nutritional intervention combined with rehabilitation exercise primarily focused on whey protein supplementation and resistance training can significantly improve limb muscle mass, muscle strength, muscle function, and cardiac function in elderly patients with CHF complicated by sarcopenia on the basis of heart failure medication treatment.
6.Danlou Tablet Improves Chronic Intermittent Hypoxia-Induced Dyslipidemia and Arteriosclerosis by HIF-1α-Angptl4 mRNA Signaling Pathway.
Jing-Jing TANG ; Guang-Xi LI ; Zhi-Guo LIU ; Rong YI ; Dong YU ; Yue-Bo ZHANG ; Shuang-Qiao ZHAO ; Shi-Han WANG
Chinese journal of integrative medicine 2022;28(6):509-517
OBJECTIVE:
To detect whether Danlou Tablet (DLT) regulates the hypoxia-induced factor (HIF)-1α-angiopoietin-like 4 (Angptl4) mRNA signaling pathway and explore the role of DLT in treating chronic intermittent hypoxia (CIH)-induced dyslipidemia and arteriosclerosis.
METHODS:
The mature adipocytes were obtained from 3T3-L1 cell culturation and allocated into 8 groups including control groups (Groups 1 and 5, 0.1 mL of cell culture grade water); DLT groups (Groups 2 and 6, 0.1 mL of 1,000 µg/mL DLT submicron powder solution); dimethyloxalylglycine (DMOG) groups (Groups 3 and 7, DMOG and 0.1 mL of cell culture grade water); DMOG plus DLT groups (Groups 4 and 8, DMOG and 0.1 mL of 1,000 µg/mL DLT submicron powder solution). Groups 1-4 used mature adipocytes and groups 5-8 used HIF-1 α-siRNA lentivirus-transfected mature adipocytes. After 24-h treatment, real-time polymerase chain reaction and Western blot were employed to determine the mRNA and protein expression levels of HIF-1 α and Angptl4. In animal experiments, the CIH model in ApoE-/- mice was established. Sixteen mice were complete randomly divided into 4 groups including sham group, CIH model group [intermittent hypoxia and normal saline (2 mL/time) gavage once a day]; Angptl4 Ab group [intermittent hypoxia and Angptl4 antibody (30 mg/kg) intraperitoneally injected every week]; DLT group [intermittent hypoxia and DLT (250 mg/kg) once a day], 4 mice in each group. After 4-week treatment, enzyme linked immunosorbent assay was used to detect the expression levels of serum total cholesterol (TC) and triglyceride (TG). Hematoxylin-eosin and CD68 staining were used to observe the morphological properties of arterial plaques.
RESULTS:
Angptl4 expression was dependent on HIF-1 α, with a reduction in mRNA expression and no response in protein level to DMOG or DLT treatment in relation to siHIF-1 α -transfected cells. DLT inhibited HIF-1 α and Angptl4 mRNA expression (P<0.05 or P<0.01) and reduced HIF-1 α and Angptl4 protein expressions with DMOG in mature adipocytes (all P<0.01), as the effect on HIF-1 α protein also existed in the presence of siHIF-1 α (P<0.01). ApoE-/- mice treated with CIH had increased TG and TC levels (all P<0.01) and atherosclerotic plaque. Angptl4 antibody and DLT both reduce TG and TC levels (all P<0.01), as well as reducing atherosclerotic plaque areas, narrowing arterial wall thickness and alleviating atherosclerotic lesion symptoms to some extent.
CONCLUSION
DLT had positive effects in improving dyslipidemia and arteriosclerosis by inhibiting Angptl4 protein level through HIF-1 α-Angptl4 mRNA signaling pathway.
Angiopoietin-Like Protein 4/genetics*
;
Animals
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Apolipoproteins E
;
Atherosclerosis/metabolism*
;
Drugs, Chinese Herbal
;
Dyslipidemias/genetics*
;
Hypoxia/metabolism*
;
Hypoxia-Inducible Factor 1, alpha Subunit/metabolism*
;
Mice
;
Plaque, Atherosclerotic
;
Powders
;
RNA, Messenger/genetics*
;
Signal Transduction
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Triglycerides
;
Water
7.Establishment and associated factors of health records among young Chinese migrants.
Hong SHI ; Xiumin ZHANG ; Xiangrong LI ; Zheng REN ; Hanfang ZHAO ; Minfu HE ; Xinwen FAN ; Xia GUO ; Shuang ZHA ; Shuyin QIAO ; Yuyu LI ; Yajiao PU ; Hongjian LIU
Environmental Health and Preventive Medicine 2021;26(1):39-39
BACKGROUND:
Most Chinese migrants have been faced with obstacles to getting access to local public health services. Young migrants among internal migrants make a major contribution to the economy. However, the establishment of their health records has been ignored. This research was aimed at exploring the status and associated factors of the establishment of health records among young Chinese migrants.
METHODS:
Data were obtained from the 2017 China Migrants Dynamic Survey (CMDS). Chi-square test and binary logistic regression were performed to investigate the associated factors of the establishment of health records among young Chinese migrants.
RESULTS:
Approximately 30.2% of young migrants had their health records established in inflow communities. Urban residence, medical insurance (insured), and lower average monthly household income were attributed to the establishment of more health records. Young migrants who were in northeast China and across provinces and immigrated for working or engaging in trade were less likely to have health records established. Young migrants who participated in social activities and public affairs activities and took type of people in touch as natives in the inflow area showed a higher possibility of establishing health records. Meanwhile, receiving health education and hearing about national basic public health services (BPHSs) were beneficial for establishing the health records of more young migrants.
CONCLUSION
This study showed that the health records of young migrants had a relatively low establishment rate. Sociodemographic and migration characteristics, health status, public health services, and social integration factors were all related to the health record establishment of young Chinese migrants.
Adolescent
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Adult
;
China
;
Female
;
Health Records, Personal
;
Humans
;
Male
;
Transients and Migrants/statistics & numerical data*
;
Young Adult
8.Associations of negative life events and coping styles with sleep quality among Chinese adolescents: a cross-sectional study.
Zheng REN ; Xiumin ZHANG ; Yue SHEN ; Xiangrong LI ; Minfu HE ; Hong SHI ; Hanfang ZHAO ; Shuang ZHA ; Shuyin QIAO ; Yuyu LI ; Yajiao PU ; Xinwen FAN ; Xia GUO ; Hongjian LIU
Environmental Health and Preventive Medicine 2021;26(1):85-85
BACKGROUND:
Limited published research has examined the relationships of negative life events and coping styles with sleep quality in Chinese junior high school students. We aimed to investigate the prevalence of poor sleep quality and to clarify the role of coping styles between negative life events and sleep quality.
METHODS:
A cross-sectional study of 3081 students was conducted in Ganzhou City, Jiangxi Province, Southeastern China. Adolescent Self-Rating Life Events Checklist, Simplified Coping Style Questionnaire, and Pittsburg Sleep Quality Index were applied to assess negative life events, coping styles, and sleep quality, respectively. Descriptive analyses, independent-samples t tests, one-way analyses of variance, Pearson correlation analyses, and structural equation modeling (SEM) were applied to analyze the data.
RESULTS:
The prevalence of poor sleep quality was 26.7%. Negative life events (B = 0.038, P < 0.001) and negative coping style (B = 0.049, P < 0.001) demonstrated a positive association with poor sleep quality, while positive coping style indicated a negative association with poor sleep quality (B = -0.029, P < 0.001). Interactions of negative life events and coping styles with sleep quality were not found (all P > 0.05). The association between negative life events and sleep quality was mediated by negative coping styles.
CONCLUSIONS
Our results indicated that poor sleep quality was common in these Chinese adolescents. Negative life events and negative coping style were associated with an increased prevalence of poor sleep quality, while the positive coping style was related to a decreased prevalence of poor sleep quality. A negative coping style mediated the association between negative life events and sleep quality.
Adaptation, Psychological
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Adolescent
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Child
;
China
;
Cross-Sectional Studies
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Humans
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Life Change Events
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Psychology, Adolescent
;
Psychology, Child
;
Sleep
9.An investigation of severe neonatal hyperbilirubinemia in 13 hospitals of Jiangsu Province, China.
Qian-Qian LI ; Xiao-Yue DONG ; Yu QIAO ; Yu-Jie YIN ; Yan GAO ; Jin-Jun ZHOU ; Li YANG ; Rong-Ping ZHU ; Fu-Dong WANG ; Jun WAN ; Yan XU ; Zhao-Jun PAN ; Wei-Yuan WANG ; Jun-Mei YAN ; Shu-Ping HAN ; Hong-Yan LU ; Yu-Hua HU ; Shuang-Shuang LI ; Jin-Xiu WANG ; Ming-Fu WU ; Jun WANG ; Xiao-Yi DENG ; Zhang-Bin YU
Chinese Journal of Contemporary Pediatrics 2020;22(7):690-695
OBJECTIVE:
To investigate the incidence of severe neonatal hyperbilirubinemia and the management on the treatment and follow-up of this disease in Jiangsu Province, China.
METHODS:
The neonates with severe hyperbilirubinemia who were admitted to 13 hospitals in Jiangsu Province from January to December, 2018, were enrolled as subjects. A retrospective analysis was performed on their mediacal data and follow-up data.
RESULTS:
In 2018, 740 neonates with severe hyperbilirubinemia were reported from the 13 hospitals in Jiangsu Province, accounting for 2.70% (740/27 386) of the total number of neonates admitted to the department of neonatology. Among these neonates, 620 (83.8%) had severe hyperbilirubinemia, 106 (14.3%) had extremely severe hyperbilirubinemia, and 14 (1.9%) had hazardous hyperbilirubinemia. Four neonates (0.5%) were diagnosed with acute bilirubin encephalopathy. A total of 484 neonates (65.4%) were readmitted due to severe hyperbilirubinemia after discharge from the delivery institution, with a median age of 7 days, among whom 214 (44.2%) were followed up for jaundice at the outpatient service before readmission, with a median age of 6 days at the first time of outpatient examination. During hospitalization, 211 neonates (28.5%) underwent cranial MRI examinations, among whom 85 (40.3%) had high T1WI signal in the bilateral basal ganglia and the globus pallidus; 238 neonates (32.2%) underwent brainstem auditory evoked potential examinations, among whom 14 (5.9%) passed only at one side and 7 (2.9%) failed at both sides. The 17 neonates with acute bilirubin encephalopathy or hazardous hyperbilirubinemia were followed up. Except one neonate was lost to follow-up, and there were no abnormal neurological symptoms in the other neonates.
CONCLUSIONS
Neonates with severe hyperbilirubinemia account for a relatively high proportion of the total number of neonates in the department of neonatology. Jaundice monitoring and management after discharge from delivery institutions need to be strengthened. For neonates with severe hyperbilirubinemia, relevant examinations should be carried out more comprehensively during hospitalization and these neonates should be followed up comprehensively and systematically after discharge.
Bilirubin
;
China
;
Evoked Potentials, Auditory, Brain Stem
;
Humans
;
Hyperbilirubinemia, Neonatal
;
Infant, Newborn
;
Retrospective Studies
10.Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.
Tong CHENG ; Hao WANG ; Bing HAN ; Hui ZHU ; Hai-Jun YAO ; Shuang-Xia ZHAO ; Wen-Jiao ZHU ; Hua-Ling ZHAI ; Fu-Guo CHEN ; Huai-Dong SONG ; Kai-Xiang CHENG ; Yang LIU ; Jie QIAO
Asian Journal of Andrology 2019;21(6):577-581
In this study, we investigated the genetics, clinical features, and therapeutic approach of 14 patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct sequencing of PCR products of the steroid 5α-reductase type 2 gene (SRD5A2). The 5α-reductase activities of three novel mutations were investigated by mutagenesis and an in vitro transfection assay. Most patients presented with a microphallus, variable degrees of hypospadias, and cryptorchidism. Eight of 14 patients (57.1%) were initially reared as females and changed their social gender from female to male after puberty. Nine mutations were identified in the 14 patients. p.G203S, p.Q6X, and p.R227Q were the most prevalent mutations. Three mutations (p.K35N, p.H162P, and p.Y136X) have not been reported previously. The nonsense mutation p.Y136X abolished enzymatic activity, whereas p.K35N and p.H162P retained partial enzymatic activity. Topical administration of dihydrotestosterone during infancy or early childhood combined with hypospadia repair surgery had good therapeutic results. In conclusion, we expand the mutation profile of SRD5A2 in the Chinese population. A rational clinical approach to this disorder requires early and accurate diagnosis, especially genetic diagnosis.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
;
Adolescent
;
Adult
;
Asian People/genetics*
;
Child
;
Child, Preschool
;
China
;
Disorder of Sex Development, 46,XY/genetics*
;
Follicle Stimulating Hormone/blood*
;
Genitalia, Male/abnormalities*
;
Humans
;
Hypospadias/genetics*
;
Luteinizing Hormone/blood*
;
Male
;
Membrane Proteins/genetics*
;
Mutation/genetics*
;
Sequence Alignment
;
Steroid Metabolism, Inborn Errors/genetics*
;
Testosterone/blood*
;
Young Adult

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