Neuroanatomical Phenotype of Klinefelter Syndrome in Childhood: A Voxel-Based Morphometry Study

被引:50
|
作者
Bryant, Daniel M. [1 ]
Hoeft, Fumiko [1 ]
Lai, Song [2 ]
Lackey, John [2 ]
Roeltgen, David [3 ]
Ross, Judith [4 ,5 ]
Reiss, Allan L. [1 ,6 ]
机构
[1] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA
[2] Thomas Jefferson Univ, Dept Radiol, Philadelphia, PA 19107 USA
[3] Georgetown Univ, Dept Neurol, Washington, DC 20057 USA
[4] Thomas Jefferson Univ, Dept Pediat, Philadelphia, PA 19107 USA
[5] Alfred I DuPont Hosp Children, Wilmington, DE 19803 USA
[6] Stanford Univ, Sch Med, Dept Radiol, Stanford, CA 94305 USA
来源
JOURNAL OF NEUROSCIENCE | 2011年 / 31卷 / 18期
基金
美国国家卫生研究院;
关键词
EXTRA X-CHROMOSOME; TURNER-SYNDROME; WORKING-MEMORY; HUMAN-BRAIN; MEN; 47; XXY; LANGUAGE; BOYS; REGIONS; MOTOR;
D O I
10.1523/JNEUROSCI.5899-10.2011
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Klinefelter syndrome (KS) is a genetic disorder characterized by a supernumerary X chromosome. As such, KS offers a naturally occurring human model for the study of both X-chromosome gene expression and androgen on brain development. Previous neuroimaging studies have revealed neuroanatomical variations associated with KS, but have differed widely with respect to subject inclusion criteria, including mosaicism, pubertal status, and history of testosterone replacement therapy (TRT), all factors likely to influence neurodevelopment. We conducted a voxel-based morphometry study of regional gray and white matter(GM and WM, respectively) volumes in 31 KS males (mean age, 9.69 +/- 1.70 years) and 36 typically developing (TD) male controls (10.99 +/- 1.72 years). None of the participants with KS had received TRT, and all were prepubertal and had nonmosaic 47,XXY karyotypes. After controlling for age, males with KS showed trends (0.05 < p < 0.10) for significantly reduced total gray matter volume (TGMV) and total white matter volume (TWMV), relative to TD males. After controlling for TGMV and age, the KS group had significantly increased sensorimotor and parietal-occipital GM and significantly reduced amygdalar, hippocampal, insular, temporal, and inferior frontal GM relative to TD controls. After controlling for TWMV and age, the KS group had significantly increased left parietal WM as well as significantly reduced frontal and temporal WM. These findings are indicative of a characteristic prepubertal neuroanatomical phenotype that may be associated with cognitive-behavioral features of KS. This work offers new insight into the relationships among X-chromosome gene expression, neuroanatomy, and cognitive-behavioral functions impaired in KS, including language and attention.
引用
收藏
页码:6654 / 6660
页数:7
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