OBJECTIVE: To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene. METHODS: A 46,XX male patient presented at the Capital Center for Children's Health, Capital Medical University in November 2024 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents and subjected to trio whole-genome sequencing. Skewed X-chromosome inactivation was tested in the child and his mother. A literature review was carried out on 46,XX males associated with mutations of the SOX3 gene. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: SHERLL2025056). RESULTS: The 10-year-old boy presented with hypospadias and cryptorchidism at birth. Chromosome analysis at one year and a half revealed a 46,XX karyotype. Gonadal biopsy showed testicular tissue, while ultrasound at the age of 10 detected ovotesticular tissue. Whole-genome sequencing identified a 660 kb duplication in the Xq27.1 region, which was derived from his mother. X-chromosome inactivation testing showed random inactivation in the child and mild non-random inactivation in the mother. Literature review has found 11 publications involving 15 patients (including our case), among whom 14 had a male social gender. They had primarily presented with hypospadias at birth but had no significant endocrine abnormalities. Most patients had experienced testicular failure after puberty. SOX3 related 46,XX males are mainly caused by de novo duplications, although a few maternal carriers had been discovered. CONCLUSION Duplication of the SOX3 gene probably underlay the pathogenesis is this 46,XX male. Individuals with 46,XX SRY negative male phenotypes should be routinely screened for SOX3 gene variants. Structural variations of the SOX3 gene can lead to complete or partial sex reversal in 46,XX individuals with minimal impact on intellectual and motor development, as well as other endocrine hormones.
Child ; Humans ; Male ; 46, XX Disorders of Sex Development/genetics* ; DNA Copy Number Variations ; Gene Duplication ; Phenotype ; SOXB1 Transcription Factors/genetics*

OBJECTIVES: Non-suicidal self-injury (NSSI) is a common mental health and behavioral issue among adolescents. This study aims to investigate the developmental trajectory of adolescent NSSI and gender differences, providing a foundation for better prevention and intervention. METHODS: A longitudinal study was conducted using the Adolescent Self-Injury Scale (ASIS) in a cohort of 1 042 junior high school students from 3 middle schools in Zhangjiajie, Hunan Province. Participants were surveyed 3 times at 6-month intervals. A latent growth curve model was constructed using Mplus8.0 to examine the development trajectory of NSSI, and multi-group comparisons were used to assess gender differences. RESULTS: Detection rates of NSSI at the 3 time points were 43.95%, 44.43%, and 38.36%, respectively. Mean of the intercept factor of the LGCM for adolescent NSSI behavior was 9.540 (P<0.001), and the mean slope was -2.297 (P<0.001). Both the variances of the intercept (σ²=169.431, P<0.001) and slope (σ²=141.981, P<0.001) were significant, with a significant negative correlation between intercept and slope (r=-0.559, P<0.001). There were no statistically significant gender differences in initial level or rate of change of NSSI behaviors (P>0.05). CONCLUSIONS NSSI is relatively prevalent among adolescents, with female adolescents experiencing more severe NSSI. Individual differences exist in both the initial level and rate of change of NSSI, and overall, adolescent NSSI shows a decreasing trend over time. No significant gender differences were found in the trajectory of change.
Humans ; Self-Injurious Behavior/psychology* ; Adolescent ; Male ; Female ; Longitudinal Studies ; Sex Factors ; Adolescent Behavior/psychology* ; China/epidemiology* ; Surveys and Questionnaires ; Students/psychology*

OBJECTIVES: Near vision loss (NVL) is one of the leading causes of visual impairment worldwide, exerting a profound impact on individual quality of life and socio-economic development. This study aims to analyze the burden of NVL in China by sex and age groups from 1990 to 2021 and to project trends over the next 15 years. METHODS: Using data from the Global Burden of Disease (GBD) 2021 database, we conducted descriptive analyses of NVL prevalence in China, calculated age-standardized prevalence rates (ASPR) and age-standardized disability-adjusted life years rates (ASDR) to compare burden differences between sexes and age groups, and applied an autoregressive integrated moving average (ARIMA) model to predict NVL trends for the next 15 years. The model selection was based on best-fit criteria to ensure reliable projections. RESULTS: From 1990 to 2021, China's ASPR of NVL rose from 10 096.24/100 000 to 15 624.54/100 000, and ASDR increased from 101.75/100 000 to 158.75/100 000. In 2021, ASPR (16 551.70/100 000) and ASDR (167.69/100 000) were higher among females than males (14 686.21/100 000 and 149.76/100 000, respectively). China ranked highest globally in both NVL cases and disability-adjusted life years (DALYs), with female burden significantly exceeding male burden. Projections indicated this trend and sex gap will persist until 2036. Compared with 1990, the prevalence cases and DALYs increased by 239.20% and 238.82%, respectively in 2021, with the highest burden among females and the 55-59 age group. The ARIMA model predicted continued increases in prevalence and DALYs by 2036, with females maintaining a higher burden than males. CONCLUSIONS This study reveals a marked increase in the NVL burden in China and predicts continued growth in the coming years. Public health policies should prioritize NVL prevention and control, with special attention to women and middle-aged populations to mitigate long-term societal and health impacts.
Humans ; China/epidemiology* ; Male ; Female ; Prevalence ; Middle Aged ; Disability-Adjusted Life Years ; Adult ; Global Burden of Disease ; Adolescent ; Quality-Adjusted Life Years ; Aged ; Sex Factors ; Child ; Young Adult ; Child, Preschool ; Cost of Illness ; Infant ; Aged, 80 and over ; Vision Disorders/epidemiology*

This report details the case of a 24-year-old Filipino individual born with ambiguous genitalia, assigned female at birth, and raised as such. Around the age of 13, the patient began to develop secondary male characteristics. Medical assessment was postponed until the onset of abdominal pain led the patient to seek consultation. Cytogenetic testing revealed a sex chromosome disorder of sexual development with a mosaic karyotype of 45,X/45,X,del(X)(q13). Imaging, surgical exploration, and histopathologic evaluation confirmed that a pelvoabdominal mass originated from the left ovary and was a mixed germ cell tumor containing yolk sac tumor and mature teratoma components. At presentation, the patient also reported symptoms consistent with gender dysphoria. This case highlights the wide phenotypic variability of mosaic Turner syndrome and reinforces the importance of accurate neonatal sex assignment in individuals with DSD. It further emphasizes the need for healthcare providers to remain vigilant for such presentations to enable prompt, tailored, and comprehensive management.

BACKGROUND

There is growing interest in gender differences in acute stroke worldwide. However, no known studies have been published on the differences in prognosis of hyperacute intracerebral hemorrhage between genders among Asians, particularly Filipinos.

Compare gender differences in the prognosis of hyperacute intracerebral hemorrhage in terms of baseline demographic and radiologic profile, as well as, clinical outcomes.

This is a retrospective cohort study involving a chart review of all patients diagnosed with hyperacute Intracerebral Hemorrhage admitted at a tertiary hospital from January 2021 to May 2023. Patients were grouped according to their gender and baseline demographic, radiologic and clinical outcomes were assessed and compared between two groups.

No statistical difference was found between stroke risk factors between the two groups. However, males tend to have higher percentages of intraventricular extension (29.2 %. (n=28) vs 30.6% (n=11) and increased hematoma volume compared to their female counterparts (n=39, 83% vs n=11, 68%). In addition, males had a higher number of ICU admissions (42.7% (n= 41) vs. 33.3% (n= 12) and mortality (46.9%( n=45) vs. 30.6% (n=11), though the results were not statistically significant.

In patients with hyperacute intracerebral hemorrhage, gender does not influence on its radiologic and clinical outcome.

Objective: To investigate the knowledge of hepatitis C prevention and treatment and related factors among two groups of female sex workers (FSW) and men who have sex with men (MSM) in the Xizang Autonomous Region (Xizang) to provide a basis for the subsequent development of Hepatitis C publicity and education strategies. Methods: From August to September 2021, a special survey was conducted among 1 244 FSW and 234 MSM in 5 districts (counties) of 4 regions in Xizang. A one-on-one face-to-face questionnaire survey was adopted, and the χ² test and logistic regression were used to analyze the related factors of awareness of hepatitis C prevention and treatment among FSW and MSM. Results: The awareness rates of hepatitis C prevention and treatment knowledge among FSW and MSM were 35.0% (436/1 244) and 11.1% (26/234), respectively. Multivariate logistic regression analysis revealed that the positive related factors of FSW' awareness of hepatitis C prevention and treatment knowledge among those who had high school or technical secondary school education (aOR=4.72, 95%CI: 3.30-6.74) and college education or above (aOR=2.24, 95%CI: 1.58-3.18), those who experienced self-perceived risk of HCV infection (aOR=1.87, 95%CI: 1.43-2.45), negative related factors included married or cohabiting (aOR=0.58, 95%CI: 0.35-0.95), divorce or windowless (aOR=0.44, 95%CI: 0.27-0.72), no condom was used in the most recent commercial sexual activity (aOR=0.54, 95%CI: 0.43-0.69). The positive related factors of MSM's awareness of hepatitis C prevention and treatment knowledge were over 40 years old (aOR=8.65, 95%CI: 3.19-23.42) and having a self-perceived risk of HCV infection (aOR=6.25, 95%CI: 2.50-15.61). Conclusions: The awareness rate of hepatitis C prevention and treatment among FSW and MSM was relatively low in Xizang in 2021 and urgently needs to be improved. It is necessary to formulate targeted publicity strategies based on the characteristics of these two groups of people, increase publicity efforts, and expand the coverage of knowledge publicity to popularize key points about the clinical manifestations, treatment options, and transmission routes of hepatitis C, and carry out necessary warnings and education.
Humans ; Male ; Hepatitis C/therapy* ; Health Knowledge, Attitudes, Practice ; Surveys and Questionnaires ; Sex Workers/psychology* ; Homosexuality, Male ; Female ; Adult ; China ; Young Adult ; Middle Aged ; Logistic Models

INTRODUCTION: The rising rate of adolescent suicide, and the burden of self-harm and mental health disorders, pose significant threats to Singapore's future health outcomes and human potential. This study sought to examine the risk profile and healthcare utilisation patterns of Singaporean adolescents who presented to the emergency department (ED) for suicidal or self-harm behaviour. METHOD: A retrospective review of medical records for patients aged 10 to 19 years who visited Singapore's KK Women's and Children's Hospital ED for suicidal or self-harm attempts from January to December 2021 was conducted. RESULTS: A total of 221 patients were identified, with a predominance of female patients (85.5%) over males (14.5%). The mean age was 14.2 ± 1.4 years. Intentional drug overdose (52.0%) was the most commonly used method. Significantly more females presented for intentional paracetamol overdose (46.6% versus [vs] 28.1%, P=0.049), whereas jumping from a height was more common among males (18.8% vs 5.8%, P=0.022). The most frequently observed mental health challenges were stress-related and emotional coping difficulties (50.7%), followed by mood and anxiety symptoms (53.4%). A history of self-harm and suicidal behaviours were the most common psychosocial risk factors. Within the year prior to their ED presentation, 15.4% had accessed healthcare services for mild medical ailments, 19.5% for medically unexplained symptoms, and 17.2% for previous self-harm or suicide attempts. CONCLUSION Most cases involved psychosocial and emotional regulation difficulties, some of which displayed sex-specific patterns, rather than complex psychiatric disorders. The identified predictive factors can help inform Singapore's National Mental Health and Well-being Strategy, to guide targeted and transdiagnostic interventions in schools and community settings.
Humans ; Adolescent ; Singapore/epidemiology* ; Female ; Male ; Suicide, Attempted/psychology* ; Emergency Service, Hospital/statistics & numerical data* ; Self-Injurious Behavior/psychology* ; Retrospective Studies ; Child ; Young Adult ; Drug Overdose/epidemiology* ; Risk Factors ; Acetaminophen/poisoning* ; Patient Acceptance of Health Care/statistics & numerical data* ; Sex Factors

INTRODUCTION: Paediatric sexual assault (SA) victims should be assessed for post-exposure prophylaxis (PEP) to mitigate the risk of sexually transmitted infections (STIs). We describe the clinical characteristics of children and young persons (CYPs) presenting with SA at KK Women's and Children's Hospital in Singapore, viral PEP (human immunodeficiency virus [HIV] and hepatitis B virus [HBV]) prescribing practices, and STI evaluation at follow-up. METHOD: Medical records of CYPs ≤16 years who presented with SA between January 2022 and August 2023 were reviewed, including assault and assailant characteristics, baseline and follow-up STI screening, PEP prescription, adherence and follow-up attendance. CYPs with SA in the preceding 72 hours by HIV-positive or HIV-status unknown assailants with high-risk characteris-tics were eligible for HIV PEP. RESULTS: We analysed 278 CYPs who made 292 SA visits. There were 40 (13.7%) CYPs eligible for HIV PEP, of whom 29 (82.9%) received it. Among those tested at baseline, 9% and 34.9% of CYPs tested positive for Chlamydia trachomatis and Gardnerella vaginalis, respectively. None tested positive for Neisseria gonorrhoeae, Trichomonas vaginalis, HIV, HBV or hepatitis C. Majority of CYPs tested were HBV non-immune (n=167, 67.6%); only 77 (46.1%) received the vaccine. Out of 27 CYPs eligible for HBV PEP with immunoglobulin, only 21 (77.7%) received immunoglobulin. A total of 37 CYPs received HIV PEP, including 8 who were retrospectively deemed ineligible. Only 10 (27%) completed the course. Overall, 153 (57.7%) CYPs attended follow-up, and none seroconverted for HIV or HBV. CONCLUSION We report suboptimal rates of HBV post-exposure vaccination, and low compliance to HIV PEP and follow-up among paediatric SA victims. Factors contri-buting to poor compliance should be examined to optimise care for this vulnerable population.
Humans ; Post-Exposure Prophylaxis/methods* ; Female ; Child ; Adolescent ; Singapore/epidemiology* ; HIV Infections/prevention & control* ; Male ; Sexually Transmitted Diseases/epidemiology* ; Retrospective Studies ; Hepatitis B/prevention & control* ; Follow-Up Studies ; Child, Preschool ; Sex Offenses/statistics & numerical data* ; Child Abuse, Sexual

BACKGROUND: Urolithiasis is a widespread disease with a high prevalence worldwide. This study aims to evaluate the disease burden of urolithiasis and its trends from 1990 to 2021 globally, based on the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 database. METHODS: The numbers and age-standardized rates (ASRs) of incidence, disability-adjusted life years (DALYs), and mortality of urolithiasis were extracted from GBD 2021 to represent the disease burden. Joinpoint regression analyses were conducted to assess the temporal trends in the burden of urolithiasis. The male-to-female ASR ratio indices were used to evaluate sex disparities. Additionally, we explored the relationship between the ASR ratio and the sociodemographic index (SDI). RESULTS: The total numbers of incidence, DALY, and mortality of urolithiasis were 105,983,780 cases (95% uncertainty interval [UI] = 88,349,356-128,645,155 cases), 693,444 cases (95% UI = 567,765-850,490 cases), and 17,672 cases (95% UI = 13,932-21,241 cases), respectively, in 2021. There is an increasing trend in the number of these measures globally, whereas the ASRs have decreased over the past 30 years. The age-standardized incidence rate (ASIR) and age-standardized mortality rate (ASMR) were significantly higher in males than in females in 2021. The sex disparities in the age-standardized DALY rate (ASDR) and ASMR of urolithiasis were negatively correlated with the SDI. In 2021, the ASIR of urolithiasis was 964.70 (95% UI = 801.26-1175.09) per 100,000 people in China, which is much lower than the global average (1242.84 [95% UI = 1034.94-1506.99] per 100,000 people). Compared with the global average, a more pronounced decline in ASIR was observed in China from 1793.16 (1446.0-2235.14) in 1990 to 964.70 (801.26-1175.09) per 100,000 people in 2021. CONCLUSIONS Urolithiasis poses a significant healthcare burden worldwide. More robust global and national strategies are warranted to address the prevention and treatment, especially in low SDI countries and regions.
Humans ; Urolithiasis/mortality* ; Male ; Female ; Incidence ; Global Burden of Disease ; Disability-Adjusted Life Years ; Adult ; Middle Aged ; Risk Factors ; Sex Factors

This study examined the regulatory effects of autonomic nervous system on aerobic endurance exercise performance in cold exposure, focusing on heart rate recovery (HRR) and heart rate variability (HRV) across genders. Thirty participants (17 males and 13 females) from a university track endurance program, classified as exercise grade II or above, underwent monitoring of HRV in time domain, frequency domain, nonlinear correlation indices and 1 min HRR. Measurements were taken before, during, and after aerobic endurance exercise in cold and normal environments, respectively. The results were as follows. (1) The duration of aerobic endurance exercise completed by all the subjects in cold environment was significantly increased compared with that in normal environment. The 1 min HRR after aerobic endurance exercise in cold environment was significantly lower than that in normal environment, and the decrease in the males was significantly higher than that in the females. (2) The time domain analysis results showed that, prior to the aerobic endurance exercise, there were no significant difference of standard deviation from the mean value of normal to normal intervals (SDNN), root mean square of successive differences (RMSSD), and percentage of adjacent normal-to-normal intervals differing by more than 50 ms (pNN50) between cold and normal environments. During aerobic endurance exercise in cold environment, SDNN, RMSSD and pNN50 were significantly higher than those in normal environment, with the females showing significantly greater increases compared with those of the males. The levels of SDNN, RMSSD and pNN50 in the males at different time points under different environments were significantly lower than those in the quiet state; The levels of SDNN and RMSSD of the females at different time points under different environments were significantly lower than those in the quiet state, while the pNN50 at different time points under cold environments was significantly lower than that in the quiet state. (3) Frequency domain analysis results showed that, prior to the aerobic endurance exercise, there was no significant difference of high frequency normalized units [HF (n.u.)], low frequency normalized units [LF (n.u.)] and LF/HF ratio between cold and normal environments. During aerobic endurance exercise in cold environment, the levels of HF (n.u.) significantly increased compared to normal environment in the females, while LF (n.u.) and LF/HF ratio levels significantly decreased compared to normal environments. The levels of HF (n.u.), LF (n.u.) and LF/HF ratio of different genders at different time points in the different environments showed no significant changes, compared to those in the quiet state. (4) Non-linear analysis results showed a significant increase in SD1 (standard deviation perpendicular to the line-of-identity)/SD2 (standard deviation along the line-of-identity) ratio during aerobic endurance exercise in cold environment in the females, while no significant changes were observed in the males. SD1/SD2 ratios in the males at different time points and in the females at 1 min under cold environments were significantly higher than those in the quiet state. These findings suggest that aerobic endurance performance increases during cold exposure, accompanied by gender-specific differences in the regulation of autonomic nervous system. Females exhibit higher vagal activity and faster autonomic nervous system recovery compared to males.
Humans ; Male ; Female ; Heart Rate/physiology* ; Cold Temperature ; Exercise/physiology* ; Physical Endurance/physiology* ; Autonomic Nervous System/physiology* ; Young Adult ; Adult ; Sex Factors