患有先天性肾上腺增生症的婴儿在早期大脑结构中存在丘脑差异。
Infants with Congenital Adrenal Hyperplasia Exhibit Thalamic Discrepancies in Early Brain Structure.
机构信息
Department of Radiology, Children's Hospital Los Angeles (CHLA), Los Angeles, California, USA.
The Saban Research Institute of CHLA, Los Angeles, California, USA.
出版信息
Horm Res Paediatr. 2023;96(5):509-517. doi: 10.1159/000529403. Epub 2023 Feb 1.
INTRODUCTION
Patients with classical congenital adrenal hyperplasia (CAH) have prenatal and postnatal hormonal imbalances. To characterize the ontogeny of reported brain and behavior changes in older children with CAH, we aimed to study the brain structure in infants with CAH compared to healthy controls.
METHODS
We performed neuroimaging in 16 infants with classical CAH due to 21-hydroxylase deficiency (8 males, gestational age 38.2 ± 1.7 weeks, post-conceptional age [PCA] 42.2 ± 3.0 weeks) and 14 control infants (9 males, gestational age 38.5 ± 1.8 weeks, PCA 42.5 ± 2.4 weeks) utilizing 3-Tesla magnetic resonance imaging. Regional brain volumes were adjusted for PCA and sex, along with an additional adjustment for total brain volume (TBV), for group comparisons by regression analyses (mean, 95% confidence interval [CI]). The degree to which each brain region was differentiated between CAH and control infants was examined by relaimpo analyses, adjusting for all other brain regions, PCA, and sex.
RESULTS
Infants with CAH had significantly smaller thalamic volumes (8,606 mm3, 95% CI [8,209, 9,002]) compared to age-matched control infants (9,215 mm3, 95% CI [8,783, 9,647]; β = -609; p = 0.02) which remained smaller after further adjustment for TBV. Upon further adjustment for TBV, the temporal lobe was larger in infants with CAH (66,817 mm3, CI [65,957, 67,677]) compared to controls (65,616 mm3, CI [64,680, 66,551]; β = 1,202, p = 0.03). The brain regions most differentiated between CAH versus controls were the thalamus (22%) and parietal lobe (10%).
CONCLUSIONS
Infants with CAH exhibit smaller thalamic regions from early life, suggesting a prenatal influence on brain development in CAH. Thalamic emergence at 8-14 weeks makes the region particularly vulnerable to changes in the intrauterine environment, with potential implications for later maturing brain regions. These changes may take time to manifest, meriting longitudinal study through adolescence in CAH.
介绍
患有经典先天性肾上腺增生症（CAH）的患者存在产前和产后激素失衡。为了描述年龄较大的 CAH 患儿报告的脑和行为变化的发生，我们旨在研究与健康对照组相比，患有 CAH 的婴儿的脑结构。
方法
我们对 16 名患有 21-羟化酶缺乏症（CAH）的婴儿（8 名男性，胎龄 38.2±1.7 周，孕龄后[PCA]42.2±3.0 周）和 14 名健康对照组婴儿（9 名男性，胎龄 38.5±1.8 周，PCA 42.5±2.4 周）进行了神经影像学检查，使用 3T 磁共振成像。通过回归分析（均值，95%置信区间[CI]），按 PCA 和性别对区域脑体积进行调整，并按回归分析对总脑体积（TBV）进行额外调整，以进行组间比较。通过重新评估分析检查每个脑区在 CAH 婴儿和对照组婴儿之间的差异程度，调整所有其他脑区、PCA 和性别。
结果
与年龄匹配的对照组婴儿相比，CAH 婴儿的丘脑体积明显较小（8,606mm3，95%CI[8,209,9,002]）（β=-609，p=0.02），进一步按 TBV 调整后仍然较小。进一步按 TBV 调整后，CAH 婴儿的颞叶较大（66,817mm3，CI[65,957,67,677]），对照组婴儿为 65,616mm3，CI[64,680,66,551]；β=1,202，p=0.03）。最能区分 CAH 与对照组的脑区是丘脑（22%）和顶叶（10%）。
结论
CAH 婴儿从生命早期就表现出较小的丘脑区域，表明宫内环境对 CAH 大脑发育有影响。8-14 周时丘脑的出现使该区域特别容易受到宫内环境变化的影响，这可能对以后成熟的脑区产生影响。这些变化可能需要时间才能显现，因此值得在 CAH 中通过青春期进行纵向研究。
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