title: The effects of sex steroids, and the X chromosome, on female brain function: a study of the neuropsychology of adult Turner syndrome.
abstract: Sex steroids and the X chromosome can independently affect cognitive abilities. Because subjects with Turner syndrome (TS) have gonadal aplasia, and various alterations in X chromosome structure and number, they provide a model to study the effects of sex steroids and of the X chromosome on human brain function. We used neuropsychological tests to study the cognitive abilities of 18 TS adults and 19 age/sex matched healthy controls. Nine TS subjects were mosaic for the 45,X karyotype, and 9 were non-mosaic 45,X (full TS). The TS group as a whole, compared to controls, had (i) significantly lower scores in tests of language and visual-spatial function, attention and memory, and (ii) a significantly greater discrepancy between verbal and performance scores. Mosaic TS subjects were intermediate between full TS and controls in some tests of verbal ability, but did not differ significantly from controls in others. Visuospatial ability was significantly lower than controls in both mosaic and full TS. Within the mosaic TS group, there was a significant negative correlation between visuospatial ability and % lymphocytes having a 45,X karyotype. Memory test scores were reduced independently of "X chromosome dosage" in all TS subjects. We conclude that in humans, the X chromosome is involved in development of both cerebral hemispheres, but moreso of the association neocortices. Also, sex steroids may modulate this effect--particularly in hippocampus.
authors.affiliation: Laboratory of Neurosciences, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892.
authors.forename: D G
authors.initials: DG
authors.lastname: Murphy
authors.forename: G
authors.initials: G
authors.lastname: Allen
authors.forename: J V
authors.initials: JV
authors.lastname: Haxby
authors.forename: K A
authors.initials: KA
authors.lastname: Largay
authors.forename: E
authors.initials: E
authors.lastname: Daly
authors.forename: B J
authors.initials: BJ
authors.lastname: White
authors.forename: C M
authors.initials: CM
authors.lastname: Powell
authors.forename: M B
authors.initials: MB
authors.lastname: Schapiro
mesh_terms: D000293:Adolescent; D000328:Adult; D001288:Attention / Q000502:physiology; D001921:Brain / Q000503:physiopathology*; D002540:Cerebral Cortex / Q000503:physiopathology; D005260:Female; D012739:Gonadal Steroid Hormones / Q000502:physiology*; D006624:Hippocampus / Q000502:physiology*; D006801:Humans; D007621:Karyotyping; D011939:Mental Recall / Q000502:physiology; D009030:Mosaicism / Q000235:genetics; D009483:Neuropsychological Tests; D009949:Orientation / Q000502:physiology; D010364:Pattern Recognition, Visual / Q000502:physiology; D011597:Psychomotor Performance / Q000502:physiology; D014424:Turner Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D014706:Verbal Learning / Q000502:physiology; D014888:Wechsler Scales; D014960:X Chromosome
chemical_list: D012739:Gonadal Steroid Hormones