Effects of hypogonadism on brain development during adolescence in girls with Turner syndrome

Li, Min; Zhao, Chenxi; Xie, Shusen; Liu, Xiwei; Zhao, Qiuling; Zhang, Zhixin; Gong, Gaolang

doi:10.1002/hbm.24745

Cited by 8 publications

(1 citation statement)

References 74 publications

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“…Parietal and postcentral alterations, in turn, may be related to TS‐associated deficits in visuospatial and sensory processing, respectively (Jajor et al, 2019 ; McCauley et al, 1987 ; Murphy et al, 1994 ). Concerning longitudinal differences, our finding of a slower rate of decline in cortical gray matter over time in TS is consistent with that of previous work by Lepage, Dunkin, et al ( 2013 ), Lepage, Hong, et al ( 2013 ), and Lepage, Mazaika, et al ( 2013 ) and, more recently, Li et al ( 2019 ). Such a pattern implies disruptions in synaptic pruning that typically occurs during puberty.…”

Section: Discussionsupporting

confidence: 93%

Adolescent brain development in girls with Turner syndrome

Wun

Foland‐Ross

et al. 2023

Human Brain Mapping

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Turner syndrome (TS) is a common sex chromosome aneuploidy in females associated with various physical, cognitive, and socio‐emotional phenotypes. However, few studies have examined TS‐associated alterations in the development of cortical gray matter volume and the two components that comprise this measure—surface area and thickness. Moreover, the longitudinal direct (i.e., genetic) and indirect (i.e., hormonal) effects of X‐monosomy on the brain are unclear. Brain structure was assessed in 61 girls with TS (11.3 ± 2.8 years) and 55 typically developing girls (10.8 ± 2.3 years) for up to 4 timepoints. Surface‐based analyses of cortical gray matter volume, thickness, and surface area were conducted to examine the direct effects of X‐monosomy present before pubertal onset and indirect hormonal effects of estrogen deficiency/X‐monosomy emerging after pubertal onset. Longitudinal analyses revealed that, whereas typically developing girls exhibited normative declines in gray matter structure during adolescence, this pattern was reduced or inverted in TS. Further, girls with TS demonstrated smaller total surface area and larger average cortical thickness overall. Regionally, the TS group exhibited decreased volume and surface area in the pericalcarine, postcentral, and parietal regions relative to typically developing girls, as well as larger volume in the caudate, amygdala, and temporal lobe regions and increased thickness in parietal and temporal regions. Surface area alterations were predominant by age 8, while maturational differences in thickness emerged by age 10 or later. Taken together, these results suggest the involvement of both direct and indirect effects of X‐chromosome haploinsufficiency on brain development in TS.

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Section: Discussionsupporting

confidence: 93%

Adolescent brain development in girls with Turner syndrome

Wun

Foland‐Ross

et al. 2023

Human Brain Mapping

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Specific learning disorders in sex chromosome aneuploidies: Neural circuits of literacy and mathematics

Karipidis

Hong

2020

American J of Med Genetics Pt C

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Sex chromosome aneuploidies (SCA) are associated with an increased risk for specific learning disorders (SLD). Individuals with Klinefelter Syndrome (KS) show an increased incidence of developmental dyslexia and individuals with Turner Syndrome (TS) are often affected by developmental dyscalculia. Accordingly, KS frequently coincides with verbal deficits, and TS with visual–spatial impairments. Though neurocognitive profiles of KS and TS are well‐established, little is known about the neurobiology underling learning in SCA. This review summarizes current structural and functional magnetic resonance imaging (MRI) studies in KS and TS related to literacy and mathematical skills. It includes studies that focus on correlates between brain anatomy and cognition in SCA and on functional brain responses during learning‐related tasks and at rest. We highlight important neural circuits that are related to domain‐specific skills of literacy and mathematics. We discuss how identifying neuroendophenotypes of learning in SCA might contribute to developing a novel framework for SLD that accounts for potential genetic effects on learning, and from the X and Y chromosomes specifically. Future research directions are considered to establish clear brain‐behavior relationships that might ultimately improve the treatment of SLD in SCA across development.

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Effects of hypogonadism on brain development during adolescence in girls with Turner syndrome

Zhao

Xie

et al. 2019

Human Brain Mapping

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Gonadal steroids play an important role in brain development, particularly during puberty. Girls with Turner syndrome (TS), a genetic disorder characterized by the absence of all or part of the second X chromosome, mostly present a loss of ovarian function and estrogen deficiency, as well as neuroanatomical abnormalities. However, few studies have attempted to isolate the indirect effects of hormones from the direct genetic effects of X chromosome insufficiency. Brain structural (i.e., gray matter [GM] morphology and white matter [WM] connectivity) and functional phenotypes (i.e., resting‐state functional measures) were investigated in 23 adolescent girls with TS using multimodal MRI to assess the role of hypogonadism in brain development in TS. Specifically, all girls with TS were divided into a hormonally subnormal group and an abnormal subgroup according to their serum follicle‐stimulating hormone (FSH) levels, with the karyotypes approximately matched between the two groups. Statistical analyses revealed significant effects of the “group‐by‐age” interaction on GM volume around the left medial orbitofrontal cortex and WM diffusion parameters around the bilateral corticospinal tract, anterior thalamic radiation, left superior longitudinal fasciculus, and cingulum bundle, but no significant “group‐by‐age” or group differences were observed in resting‐state functional measures. Based on these findings, estrogen deficiency has a nontrivial impact on the development of the brain structure during adolescence in girls with TS. Our present study provides novel insights into the mechanism by which hypogonadism influences brain development during adolescence in girls with TS, and highlights the important role of estrogen replacement therapy in treating TS.

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Effects of hypogonadism on brain development during adolescence in girls with Turner syndrome

Cited by 8 publications

References 74 publications

Adolescent brain development in girls with Turner syndrome

Adolescent brain development in girls with Turner syndrome

Specific learning disorders in sex chromosome aneuploidies: Neural circuits of literacy and mathematics

Effects of hypogonadism on brain development during adolescence in girls with Turner syndrome

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