Objective To investigate the clinical manifestations,molecular genetics and gonadal pathol-ogy characteristics of patients with disorders of sex development(DSD),and to summarize the clinical experi-ence of identifying rare diseases from common symptoms.Methods The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children's Medical Cen-ter from May 2018 to August 2023 were retrospectively analyzed,summarized and discussed.Results Accord-ing to chromosome karyotype,416 cases of DSD were classified into three types:92 cases(22.1％)of abnormal sex chromosome karyotype,285 cases(68.5％)of 46,XY karyotype and 39 cases(9.4％)of 46,XX karyotype.Among the 92 patients with abnormal sex chromosome karyotype,59 cases were raised as males,18 cases(30.5％)complained of short penis with hypospadias and cryptorchidism.The most common karyotype was 45,X/46,XY(58 cases,63.0％).Among the 285 patients with 46,XY karyotype,238 cases were raised as males,and 63 cases(26.5％)complained of short penis and hypospadias;47 cases were raised as females,and 13 ca-ses(27.7％)complained of inguinal mass.A total of 216 patients with 46,XY karyotype were subjected to whole exome gene detection,and 155 cases(71.8％)were found to have molecular pathogenesis with the clinical phe-notype.Among the 39 patients with 46,XX karyotype,19 cases were raised as males,and 8 cases(42.1％)com-plained of short penis and hypospadias.In the 18 cases of gonad biopsy,17 cases showed testicular tissue in go-nads.Whole exome sequencing was performed in 14 cases.NR5A1 gene heterozygous mutation,SRY gene muta-tion and SOX3 gene mutation were found in 2 cases,respectively(14.3％).Twenty cases were raised as females,and 14 cases(70.0％)complained of clitoral hypertrophy.Gonad biopsy was performed in 8 cases,with 7 cases of ovotestis(87.5％)and 1 case of NR5A1 gene heterozygous mutation(14.3％).Conclusions The etiologies of DSD are complex and diverse,and the clinical manifestations are various,which can be manifested as hypospa-dias,micropenis,cryptorchidism and other common symptoms of the urinary system.Different etiologies have dif-ferent treatment options.Therefore,chromosome karyotype,molecular genetic testing and gonadal pathology can be used to clarify the cause of disease,especially for rare diseases,improve the detection rate,reduce the rate of missed diagnosis,and ensure reasonable treatment,especially sex selection.

Objective:To estimate the effect of comorbid gestational diabetes mellitus (GDM) and depression on glucose metabolism and neonatal morphology.Methods:From March 2015 to October 2018, recruited 18 to 28 weeks pregnant women who met the criteria in the Hefei First People′s Hospital or First Affiliated Hospital of Anhui Medical University or Anhui Maternal and Child Health Hospital, including a total of 4 380 study subjects, of which the birth outcome information of 3 827 newborns were collected. The self-made questionnaire "Maternal Health Questionnaire for Hefei City" and Edinburgh Postpartum Depression Scale were used to obtain basic demographic characteristics and emotional state of depression. Data from the 75-g oral-glucose-tolerance test were obtained at 24-28 weeks of gestation. After delivery, delivery outcome information were collected from the hospital medical records. Covariance analysis was used to analyze the differences in glucose metabolism indicators and neonatal outcome indicators in pregnant women with different GDM and depression status. Multiple logistic regression model was used to analyze the correlation between GDM and depression, with different groups of GDM and depression status (no GDM and depression, simple depression, simple GDM, comorbid GDM and depression)as independent variables and whether they were large for gestational age as dependent variables. The interaction between GDM and depression was also analyzed.Results:The 4 380 pregnant women were (28.8±4.2) years old. The incidence of GDM was 19.5% (852/4 380), and the detection rates of depression in the second and third trimesters were 12.1% (526/4 380) and 12.3% (536/4 367). PG-1h and AUC in the comorbid GDM and depression group were significantly higher than those in the group with no GDM and depression ( P<0.05) and the single GDM group ( P<0.05). After adjusting for factors such as the childbirth age, education level, family′s main economic income, BMI before pregnancy, parity, number of physical activities, and weight gain during pregnancy, compared with the group with no GDM and depression, the RR(95% CI) of LGA occurred in the single depression group, the single GDM group and the comorbid group were 1.31(0.89-1.91), 1.51(1.14-2.00) and 2.43(1.29-4.57), respectively. Further analysis showed that the association between GDM pregnant women with depression and newborn LGA ［ RR (95% CI): 2.12 (1.01-4.49)］ was stronger than that between GDM pregnant women without depression and newborn LGA ［ RR (95% CI): 1.50 (1.12-1.99)］, the P interaction value was<0.05. Conclusion:The status of comorbid GDM and depression can impair glucose metabolism and increase the risk of LGA.

Objective:To estimate the effect of comorbid gestational diabetes mellitus (GDM) and depression on glucose metabolism and neonatal morphology.Methods:From March 2015 to October 2018, recruited 18 to 28 weeks pregnant women who met the criteria in the Hefei First People′s Hospital or First Affiliated Hospital of Anhui Medical University or Anhui Maternal and Child Health Hospital, including a total of 4 380 study subjects, of which the birth outcome information of 3 827 newborns were collected. The self-made questionnaire "Maternal Health Questionnaire for Hefei City" and Edinburgh Postpartum Depression Scale were used to obtain basic demographic characteristics and emotional state of depression. Data from the 75-g oral-glucose-tolerance test were obtained at 24-28 weeks of gestation. After delivery, delivery outcome information were collected from the hospital medical records. Covariance analysis was used to analyze the differences in glucose metabolism indicators and neonatal outcome indicators in pregnant women with different GDM and depression status. Multiple logistic regression model was used to analyze the correlation between GDM and depression, with different groups of GDM and depression status (no GDM and depression, simple depression, simple GDM, comorbid GDM and depression)as independent variables and whether they were large for gestational age as dependent variables. The interaction between GDM and depression was also analyzed.Results:The 4 380 pregnant women were (28.8±4.2) years old. The incidence of GDM was 19.5% (852/4 380), and the detection rates of depression in the second and third trimesters were 12.1% (526/4 380) and 12.3% (536/4 367). PG-1h and AUC in the comorbid GDM and depression group were significantly higher than those in the group with no GDM and depression ( P<0.05) and the single GDM group ( P<0.05). After adjusting for factors such as the childbirth age, education level, family′s main economic income, BMI before pregnancy, parity, number of physical activities, and weight gain during pregnancy, compared with the group with no GDM and depression, the RR(95% CI) of LGA occurred in the single depression group, the single GDM group and the comorbid group were 1.31(0.89-1.91), 1.51(1.14-2.00) and 2.43(1.29-4.57), respectively. Further analysis showed that the association between GDM pregnant women with depression and newborn LGA ［ RR (95% CI): 2.12 (1.01-4.49)］ was stronger than that between GDM pregnant women without depression and newborn LGA ［ RR (95% CI): 1.50 (1.12-1.99)］, the P interaction value was<0.05. Conclusion:The status of comorbid GDM and depression can impair glucose metabolism and increase the risk of LGA.

Objective: To explore the relationship between the vitamin D levels and lipid metabolism during second trimester. Methods: A total of 1 875 pregnant women who were in the second trimester and had antenatal care in 3 hospitals in Hefei of Anhui province from March 2015 to February 2018 were included. Baseline questionnaire survey was performed, and fasting venous blood samples were collected from the pregnant women to detect serum 25(OH)D, cholesterol (TC), triglyceride (TG), high-density lipoprotein (HDL-C) and low-density lipoprotein (LDL-C) levels. Cubic non-linear model and linear regression model were used to analyze the linear relationship between vitamin D levels and lipid metabolism indicators in the second trimester. Results: The vitamin D deficiency rate was 75.3% (1 412/1 875) in the pregnant women. The mean levels of lipid metabolism indicators TC, TG, HDL-C and LDL-C were (233.22±38.87), (226.24±83.88), (79.04±12.77), and (109.54±25.95) mg/dl respectively. Multivariate linear regression model results showed, compared with Q5 of the 25(OH)D, the TC and TG levels of Q1-Q4 groups significantly increased, and the LDL-C of Q1 and Q2 groups significantly increased. The highest difference between TC, TG and LDL-C was observed in Q1 group. (TC: β=16.88, 95%CI: 10.50-23.26; TG: β=34.92, 95%CI: 21.32-48.53; LDL-C: β=9.06, 95%CI: 4.77-13.35). No significant differences in HDL-C level among the 5 groups were observed. When stratified with vitamin D deficiency the results showed that, when 25(OH)D was <50 nmol/L, TC, TG and LDL-C levels decreased by 3.53 (95%CI: 1.30-5.75), 7.42 (95%CI: 2.41 to 12.44) and 2.08 mg/dl (95%CI: 0.60-3.57) along with a 10 nmol/L increase of 25(OH)D, the difference was statistically significant, and when 25(OH)D was ≥50 nmol/L, no significant correlation was found between 25(OH)D level and TC, TG and LDL-C levels. No significant relationship between 25(OH)D level and HDL-C level was observed regardless of vitamin D deficiency. Conclusions There was a nonlinear relationship between vitamin D levels and lipid metabolism indicators in the second trimester. There was a significant negative correlation between 25(OH)D level and lipid metabolism indicators only in the deficiency of vitamin D.

Objective: To explore the association between the exposure to major air pollutants in pre-pregnancy and early pregnancy (peri-conceptional period) and gestational diabetes mellitus (GDM). Methods: From March 2015 to April 2018, 4 817 pregnancies were recruited at three prenatal check-ups hospital in Hefei (Hefei First People′s Hospital, Hefei. Maternal and Child Care Hospital and the First Affiliated Hospital of Anhui Medical University), China. Questionnaire was used to collect the demographic data, the health status and lifestyle of pregnant women. GDM was diagnosed according to the Chinese Guidelines for the Prevention and Treatment of Type 2 Diabetes (2017 Edition). Logistic regression was used to investigate the association of exposure to major air pollutants (PM_2.5, PM₁₀, SO₂, CO and NO₂) during different periods of pre-pregnancy (12 weeks before pregnancy) and first trimester (12 weeks after last menstruation) and duration of exposure to high levels of pollutants with GDM. Results: The mean±SD of the age of subjects was (29.14±4.19) years old and the prevalence of GDM was 21.4% (n=1 030). The results of multivariate logistic regression analysis showed that after adjusting for confounding factors, the risk of GDM increased gradually with the prolonged exposure time of high-concentration pollutants compared with pregnant women who were not exposed to high pollution during the pre-pregnancy (χ²=61.28, P_trend<0.001) with the OR (95%CI) values for exposure time of 1, 2, and 3 months about 1.42 (1.10-1.84), 1.73 (1.29-2.33), and 2.51 (1.75-3.59), respectively. In the pre-pregnancy period, in every 10 μg/m³ increase of PM_2.5 and PM₁₀, the OR (95%CI) values of GDM were 1.14 (1.08-1.20) and 1.13 (1.08-1.19), respectively; for each increase of 1 μg/m³ and 0.10 mg/m³ of SO₂ and CO, the OR (95% CI) values of GDM were 1.03 (1.01-1.05) and 1.07 (1.01-1.13), respectively. For every 1 μg/m³ increase in the average concentration of SO₂ in the first trimester, the OR (95%CI) value of GDM was 1.02 (1.01-1.05). Conclusion PM_2.5, PM₁₀, SO₂ and CO exposure during the pre-pregnancy and SO₂ exposure in first trimester were positively correlated with the risk of GDM.

Vitamin D deficiency is common in pregnant women, and it is associated with multiple gestational complications, fetal intrauterine dysplasia, and maternal and infant health in postpartum period. Vitamin D involved in lipid metabolism may affect maternal-fetal health during pregnancy through this biological pathway. This review provides an overview of three main aspects, including, the effect of vitamin D on the mechanism of lipid metabolism, the relationship between vitamin D and lipid metabolites in pregnant women and women with pregnancy complications. An association between vitamin D status and lipid metabolism at different stages of pregnancy has been justified in most current studies, and the underlying mechanism has also been partly elucidated. Given some gestational complications, such as gestational diabetes and pre-eclampsia, pregnant women with these conditions are often associated with abnormal lipid metabolism and vitamin D deficiency. There is no doubt that the studies on the vitamin D supplementation and lipid metabolism improvement could have crucial clinical significance for this population. More randomized controlled trials with multi-center, large sample and multi-dose interventions are needed in the future to provide scientific evidence for clinical practice.

From March 2015 to February 2018, 4 728 women aged 18 to 45 years old with single-pregnancy at the gestational age of 13 to 27 weeks in Hefei were recruited to analyze the trend of vitamin D status. The average levels of serum 25(OH)D in 2015, 2016 and 2017 were (43.22±18.41) nmol/L, (39.3±15.1) nmol/L and (36.6±17.0) nmol/L, and the prevalence of vitamin D deficiency were 69.5%, 77.6% and 81.4%, respectively. Compared with 2015, the levels of serum 25(OH)D in pregnant women in 2016 and 2017 decreased by 5.23 (95%CI: 4.10-6.35) nmol/L and 7.98 (95%CI: 6.77-9.19) nmol/L. The OR (95%CI) values for the risk of vitamin D deficiency were 1.88 (95%CI: 1.57-2.24) and 2.41 (95%CI: 1.98-2.93).

Substantial evidence supports the neurodevelopmental hypothesis of schizophrenia. Meanwhile, progressive neurodegenerative processes have also been reported, leading to the hypothesis that neurodegeneration is a characteristic component in the neuropathology of schizophrenia. However, a major challenge for the neurodegenerative hypothesis is that antipsychotic drugs used by patients have profound impact on brain structures. To clarify this potential confounding factor, we measured the cortical thickness across the whole brain using high-resolution T1-weighted magnetic resonance imaging in 145 first-episode and treatment-naïve patients with schizophrenia and 147 healthy controls. The results showed that, in the patient group, the frontal, temporal, parietal, and cingulate gyri displayed a significant age-related reduction of cortical thickness. In the control group, age-related cortical thickness reduction was mostly located in the frontal, temporal, and cingulate gyri, albeit to a lesser extent. Importantly, relative to healthy controls, patients exhibited a significantly smaller age-related cortical thickness in the anterior cingulate, inferior temporal, and insular gyri in the right hemisphere. These results provide evidence supporting the existence of neurodegenerative processes in schizophrenia and suggest that these processes already occur in the early stage of the illness.

Objective To compare the clinical efficacy of minimally invasive surgery and traditional surgery in the treatment of multiple benign mammary lumps.Methods A retrospective study was conducted to select 158 patients with multiple benign breast masses admitted to Yijishan Hospital of Wannan Medical College from July 2016 to February 2018,all of them were female,average age was (28.3 ± 6.6) years old,range from 19 to 51 years old.The patients were divided into minimally invasive group (n =122) and traditional group (n =36) according to different surgical methods.The minimally invasive group was treated by minimally invasive rotary excision,while the traditional group was treated by traditional surgery.The operation time,number of incisions,average length of incisions,cumulative length of incisions and healing time of incisions were compared between the two groups.The incidence of local hematoma,local infection,breast deformity and local residual were compared after operation,and the satisfaction of the two groups was aslo compared.Normal distribution measurements were expressed by mean ± standard deviation (Mean ± SD),independent sample t test was used for inter-group comparison;non-normal distribution measurements were expressed by median (quartile spacing) [M(P25,P75)],Mann-Whitney U test was used for inter-group comparison.Chi-square test or Fisher exact probability test was used to compare the count data between the two groups.Results As compared to the traditional group,the minimally invasive group had shorter operation time (20.0 min vs 40.0 min,Z =-8.590,P ＜ 0.001),less number of incisions (1.0 vs 2.0,Z =-4.423,P ＜0.001),smaller average surgical incision length (3.8 mm vs 35.5 mm,Z =-9.211,P ＜ 0.001),smaller cumulative surgical incision length (4.0 mm vs 67.2 mm,Z =-9.130,P ＜ 0.001),quicker postoperative recovery (4.0 d vs 7.0 d,Z =-9.334,P ＜ 0.001).There were no significant differences between the two groups in incidence of postoperative hematoma (4.1％ vs 2.8％,x2 =0.000,P =1.000),incidence of infection (0 vs 2.8％,P =0.228),incidence of postoperative breast shape change (1.6％ vs 2.8％,x2 =0.000,P =1.000),and incidence of residual (0.8％ vs 0,P =1.000).Psychological satisfaction of patients in minimally invasive group (95.1％) was significantly higher than that in traditional group (58.3％),the difference was statistically significant (P ＜ 0.001).Conclusions Compared with traditional surgery,the application of minimally invasive surgery in the treatment of multiple benign mammary lumps has many advantages,such as shorter operation time,less number of incisions,smaller surgical incision length,quicker postoperative recovery and higher satisfaction of patients after operation.It has not significantly increased postoperative complications.It is worthy of clinical application and promotion.

Vitamin D deficiency is common in pregnant women, and it is associated with multiple gestational complications, fetal intrauterine dysplasia, and maternal and infant health in postpartum period. Vitamin D involved in lipid metabolism may affect maternal?fetal health during pregnancy through this biological pathway. This review provides an overview of three main aspects, including, the effect of vitamin D on the mechanism of lipid metabolism, the relationship between vitamin D and lipid metabolites in pregnant women and women with pregnancy complications. An association between vitamin D status and lipid metabolism at different stages of pregnancy has been justified in most current studies, and the underlying mechanism has also been partly elucidated. Given some gestational complications, such as gestational diabetes and pre?eclampsia, pregnant women with these conditions are often associated with abnormal lipid metabolism and vitamin D deficiency. There is no doubt that the studies on the vitamin D supplementation and lipid metabolism improvement could have crucial clinical significance for this population. More randomized controlled trials with multi?center, large sample and multi?dose interventions are needed in the future to provide scientific evidence for clinical practice.