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. 2006 Feb 1;59(3):273-83.
doi: 10.1016/j.biopsych.2005.06.026. Epub 2005 Sep 1.

Influence of X chromosome and hormones on human brain development: a magnetic resonance imaging and proton magnetic resonance spectroscopy study of Turner syndrome

William J Cutter  1 , Eileen M Daly, Dene M W Robertson, Xavier A Chitnis, Therese A M J van Amelsvoort, Andrew Simmons, Virginia W K Ng, Benjamin S Williams, Phillip Shaw, Gerard S Conway, David H Skuse, David A Collier, Michael Craig, Declan G M Murphy
Affiliations

Influence of X chromosome and hormones on human brain development: a magnetic resonance imaging and proton magnetic resonance spectroscopy study of Turner syndrome

William J Cutter et al. Biol Psychiatry. .

Abstract

Background: Women with Turner syndrome (TS; 45,X) lack a normal second X chromosome, and many are prescribed exogenous sex and growth hormones (GH). Hence, they allow us an opportunity to investigate genetic and endocrine influences on brain development.

Methods: We examined brain anatomy and metabolism in 27 adult monosomic TS women and 21 control subjects with volumetric magnetic resonance imaging and magnetic resonance spectroscopy.

Results: In TS women, regional gray matter volume was significantly smaller in parieto-occipital cortex and caudate nucleus and larger in cerebellar hemispheres. White matter was reduced in the cerebellar hemispheres, parieto-occipital regions, and splenium of the corpus callosum but was increased in the temporal and orbitofrontal lobes and genui of corpus callosum. Women with TS had a significantly lower parietal lobe concentration of N-acetyl aspartate, and higher hippocampal choline. Also, among women with TS, there were significant differences in regional gray matter volumes and/or neuronal integrity, depending upon parental origin of X chromosome and oxandrolone and GH use.

Conclusions: X chromosome monosomy, imprinting and neuroendocrine milieu modulate human brain development-perhaps in a regionally specific manner.

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