title: Genes and sex hormones interaction in neurodevelopmental disorders.
abstract: The prevalence, age of onset and symptomatology of many neurodevelopmental disorders strongly differ between genders. This review examines sex biases in human neurodevelopmental disorders and in validated animal models. A focus is made on disorders of well-established genetic origin, such as Rett syndrome, CDKL5-associated disorders, Fragile X and Down syndrome. Autism is also addressed, given its paradigmatic role as a sex-biased neurodevelopmental disorder. Reviewed literature confirms that a complex interaction between genetic factors and sex hormones may underlie the differential susceptibility of genders and may impact the severity of symptoms in most of the analyzed neurodevelopmental disorders. Even though further studies addressing the advantages and disadvantages conferred by biological sex in this class of disorders are needed to disentangle the underlying mechanisms, present findings suggest that modulation of sex steroid-related pathways may represent an innovative approach for these diseases. Much effort is now expected to unravel the potential therapeutic efficacy of drugs targeting sex hormones-related signaling pathways in neurodevelopmental disorders of well-established genetic origin.
authors.affiliation: Dept. Cell Biology and Neuroscience, Istituto Superiore di Sanità, Roma, Italy.
authors.forename: Emilia
authors.initials: E
authors.lastname: Romano
authors.affiliation: Dept. Cell Biology and Neuroscience, Istituto Superiore di Sanità, Roma, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Cosentino
authors.affiliation: Dept. Cell Biology and Neuroscience, Istituto Superiore di Sanità, Roma, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Laviola
authors.affiliation: Dept. Cell Biology and Neuroscience, Istituto Superiore di Sanità, Roma, Italy. Electronic address: bianca.defilippis@iss.it.
authors.forename: Bianca
authors.initials: B
authors.lastname: De Filippis
mesh_terms: D000818:Animals; D001321:Autistic Disorder; D012739:Gonadal Steroid Hormones / Q000378:metabolism*; D006801:Humans; D000091042:Reelin Protein; D015518:Rett Syndrome
chemical_list: D012739:Gonadal Steroid Hormones; D000091042:Reelin Protein; C000717127:RELN protein, human
keywords: Androgen; Animal models; Behavior; Estradiol; Estrogens; FMRP; MeCP2; Neuroactive steroids; Reelin; Trisomy 21