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The effects of sex steroids, and the X chromosome, on female brain function: A study of the neuropsychology of adult turner syndrome

Research output: Contribution to journalArticle

Declan Murphy, Gregory Allen, James V. Haxby, Kimberly A. Largay, Eileen Daly, Beverly J. White, Cynthia M. Powell, Mark B. Schapiro

Original languageEnglish
Pages (from-to)1309-1323
Number of pages15
JournalNeuropsychologia
Volume32
Issue number11
DOIs
Publication statusPublished - Nov 1994

King's Authors

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.

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