Sex specific genetic-endocrine insights into autism spectrum disorder


the beginning of the project: 01.07.2021
the end of the project: 31.12.2024



Autism spectrum disorders (ASD) are lifelong neurodevelopmental disorders characterized by social and communication deficits, as well as stereotypical and limited behavioral patterns. The disease is significantly more commonly diagnosed in men than in women, with current estimates across the spectrum ranging from 3: 1 to 4.3: 1. Behavioral symptoms and their severity, developmental milestones, cognitive abilities, and adaptability of individuals with ASD play an important role in investigating the involvement of genes and hormonal pathways in the etiology of ASD. In addition, postnatally detected sex-specific dermatoglyphic patterns may reveal morphological disorders of the brain associated with ASD phenotypes. Gender differences are attributed to male-female variations at the genetic level, which control the development of the gonads and the production of sex hormones. The proposed project aims to investigate sex-specific differences in genetic background and in metabolic pathways of steroidogenesis related to sex hormones. It will focus on the sex-specific relationships between dermatoglyphs and behavioral and cognitive characteristics in individuals with ASD.