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Background: Accumulating evidence suggests that the autism spectrum disorder (ASD) population exhibits altered hormone levels, including androgens. However, studies on the regulation of androgens, such as testosterone and dehydroepiandrosterone (DHEA), in relation to sex differences in individuals with ASD are limited and inconsistent. We conducted the systematic review with meta-analysis to quantitatively summarise the blood, urine, or saliva androgen data between individuals with ASD and controls.
Methods: A systematic search was conducted for eligible studies published before 16 January 2023 in six international and two Chinese databases. We computed summary statistics with a random-effects model. Publication bias was assessed using funnel plots and heterogeneity using I statistics. Subgroup analysis was performed by age, sex, sample source, and measurement method to explain the heterogeneity.
Results: 17 case-control studies (individuals with ASD, 825; controls, 669) were assessed. Androgen levels were significantly higher in individuals with ASD than that in controls (SMD: 0.27, 95% CI: 0.06-0.48, =0.01). Subgroup analysis showed significantly elevated levels of urinary total testosterone, urinary DHEA, and free testosterone in individuals with ASD. DHEA level was also significantly elevated in males with ASD.
Conclusion: Androgen levels, especially free testosterone, may be elevated in individuals with ASD and DHEA levels may be specifically elevated in males.
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http://dx.doi.org/10.3389/fendo.2024.1371148 | DOI Listing |
Turk J Pediatr
September 2025
Division of Developmental Pediatrics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Background: Autism spectrum disorder (ASD) is more frequently diagnosed in boys than in girls, possibly due to gender-based differences in symptom presentation or referral patterns. This study investigates gender-related variations in symptom severity and clinical presentation among preschool children referred for suspected ASD.
Methods: This study included 125 children (boys: n=103; girls: n=22) aged 2-5 years suspected of having ASD.
Arch Psychiatr Nurs
October 2025
Ras Al Khaimah Medical and Health Science University, Ras Al Khaimah, United Arab Emirates.
Background & Objectives: The global rise in autism spectrum disorder (ASD) has highlighted the burden on healthcare systems and the significant impact on affected families. This study explored caregivers' perspectives on the healthcare experiences of children with ASD and the related challenges faced by families in Ras Al Khaimah, UAE.
Methods: A descriptive, cross-sectional study was conducted among caregivers of 38 children with confirmed ASD attending two autism centers.
J Educ Health Promot
July 2025
Department of Pedagogic, Karaganda Buketov University, Karaganda, Kazakhstan.
Background: Studying the problems of training personnel to work with children with autism spectrum disorders (ASD) in the Republic of Kazakhstan is of high relevance and importance due to the trend of stable growth in the number of children in this category, indicating the need for systemic development and timely solutions. This study investigates the gaps in training for ASD specialists and provides a forecast-based approach to address these needs effectively.
Materials And Methods: The study utilized stratified random sampling to ensure the representativeness of each key participant group: children with ASD of different age categories, participants from various geographical regions of Kazakhstan, educators, health professionals, and social workers.
Mol Genet Genomics
September 2025
Human Phenome Institute, MOE Key Laboratory of Contemporary Anthropology, Zhangjiang Fudan International Innovation Center, Fudan University, 825 Zhangheng Road, Shanghai, 201203, China.
Accurate variant calling is essential for next-generation sequencing (NGS)-based diagnosis of rare diseases, yet most benchmarking studies have focused on standard cell lines or trio-based samples, with limited relevance to sporadic cases. Here, we systematically compared the performance of DeepVariant and GATK HaplotypeCaller in two Chinese cohorts of patients with sporadic epilepsy (EP) and autism spectrum disorder (ASD). DeepVariant exhibited higher precision and sensitivity in detecting single nucleotide variants (SNVs), while GATK showed a distinct advantage in identifying rare variants, which are often key to understanding the genetic basis of rare diseases.
View Article and Find Full Text PDFJ Osteopath Med
September 2025
Rowan Integrated Special Needs Center (an affiliate of Virtua Medical Group), Rowan-Virtua School of Osteopathic Medicine, Stratford, NJ, USA.
Context: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by challenges in social communication and repetitive behaviors. Its etiology is influenced by a combination of genetic and environmental factors. Variations in the methylenetetrahydrofolate reductase (MTHFR) gene, which is implicated in folate metabolism and neurodevelopment, are widespread in the autism population.
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