![]() ![]() 2011).Īlthough a consistent picture of brain structure and function in adolescents and adults with TS has begun to emerge, little is known about the effects of TS in young, pre-pubertal girls with this condition, or how (induced) puberty affects brain development. Structural and functional brain abnormalities in TS have also been reported to occur in other brain regions such as the hippocampus, caudate, thalamus, prefrontal, insular, and orbitofrontal cortices, and superior temporal gyrus/sulcus ( Haberecht et al. These anatomical variations have putatively been linked to cognitive–behavioral difficulties in TS, including visuospatial and social functioning. 2011) and enlargement of the amygdala ( Good et al. volumetric studies and voxel-based morphometry), the results of these studies have consistently shown a reduction in parieto-occipital gray matter volume (GMV) ( Reiss et al. Using univariate structural analyses of brain MRI (e.g. Previous magnetic resonance imaging (MRI) studies have identified a number of brain regions exhibiting aberrant morphology in adolescents and adults with TS. ![]() Accordingly, TS provides a unique opportunity to study the effects of X-chromosome genetic influences and neurohormonal factors on brain maturation during development. Standard medical intervention consists of growth hormone (GH) to increase stature during childhood, followed by estrogen treatment to trigger puberty and the development of secondary sexual characteristics if spontaneous puberty does not occur ( Sybert and McCauley 2004). The usual physical phenotype associated with TS includes short stature, cardiovascular malformations, and a lack of endogenous estrogen during development. Women with TS have a distinctive cognitive profile characterized by preserved verbal abilities, but relative weaknesses in visuospatial, visuomotor, and executive functions ( Kesler 2007), as well as difficulties establishing and maintaining social relationships ( Burnett et al. Turner syndrome (TS) is a genetic condition caused by the partial or complete absence of one X-chromosome that affects approximately 1/2000 live births in females ( Sybert and McCauley 2004 Gravholt 2005). These findings show the existence of abnormal brain morphology early in development in TS, but also suggest the presence of altered neurodevelopmental trajectories in some regions, which could potentially be the consequences of estrogen deficiency, both pre- and postnatally.ĭevelopment, monosomy, puberty, surface-based morphometry, X-chromosome Introduction Exploratory developmental analyses suggested aberrant regional brain maturation in the parahippocampal gyrus and orbitofrontal regions from childhood to adolescence in TS. ![]() In contrast to the young cohort, adolescents with TS showed significantly larger mean cortical thickness and significantly smaller total SA compared with healthy controls. Our results show that individuals with TS, young and adolescent, present widespread reduction of gray matter volume, white matter volume and surface area (SA) over both parietal and occipital cortices bilaterally, as well as enlarged amygdala. Here, we used automated segmentation and surface-based morphometry to characterize the differences in brain morphology in children ( n = 30) and adolescents ( n = 16) with TS relative to age- and sex-matched control groups ( n = 21 and 24, respectively). Turner syndrome (TS) is a genetic condition that permits direct investigation of the complex interaction among genes, hormones, behavior, and brain development. ![]()
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