Sex differences between males and females can be detected early in life. They are present also later even to a much greater extent affecting our life in adulthood and a wide spectrum of physical, psychological, cognitive, and behavioral characteristics. Moreover, sex differences matter also in individual's health and disease. In this article, we reviewed at first the sex differences in brain organization and function with respect to the underlying biological mechanisms. Since the individual functional differences in the brain, in turn, shape the behavior, sex-specific psychological/behavioral differences that can be observed in infants but also adults are consequently addressed. Finally, we briefly mention sex-dependent variations in susceptibility to selected disorders as well as their pathophysiology, diagnosis, and response to therapy. The understanding of biologically determined variability between males and females can have important implications, especially in gender-specific health care. We have the impression that it is very important to emphasize that sex matters. Males and females are differently programmed by nature, and it must be respected. Even though we as males and females are not the same, we would like to emphasize that we are still equal and together form a worthy colorful continuum.
Autism spectrum conditions (ASC) are a group of conditions characterized by difficulties in communication and social interaction, alongside unusually narrow interests and repetitive, stereotyped behaviour. Genetic association and expression studies have suggested an important role for the GABAergic circuits in ASC. Syntaxin 1A (STX1A) encodes a protein involved in regulation of serotonergic and GABAergic systems and its expression is altered in autism.
Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS.
Objective Purpose of the study was to identify the relationship among actual plasmatic levels of steroid hormones and behavioral manifestations in boys with autism and to assess the genetic contribution to these manifestations.Methods 172 boys with autism under 10 years of age and 135 neurotypical boys attended the study. ADI-R and ADOS-2 were used to evaluate the core symptom severities. Problem behavior was assessed using BPI-01 questionnaire. Levels of testosterone, estradiol, dehydroepiandrosterone, dehydroepiandrosterone-sulfate and sex hormone binding globulin (SHBG) were measured in plasma of autistic boys. Three SNPs (in ESR1, SHBG, SRD5A2 genes) and one STR in AR gene (number of CAG repeats in first exon) were assessed. Hormonal levels and number of CAG repeats in AR gene were used for correlation analysis with behavioral measures. Genotype and allelic frequencies were compared among autistic and neurotypical boys.Results We found negative relationship among SHBG levels and restricted, repetitive behaviors (measured by ADOS-2) and positive relationship among actual testosterone levels and frequency of stereotyped behavior (measured by BPI-01).Conclusion Actual levels of SHBG and testosterone are related to severities of restricted and repetitive behaviors in boys with autism. Mechanisms of action of these hormones in brain require further investigation.