Background

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affects the adrenal glands and is the most common cause of primary adrenal insufficiency in children. In the past few decades, magnetic resonance imaging (MRI) has been implemented to investigate how the brain may be affected by CAH. A systematic review was conducted to evaluate and synthesize the reported evidence of brain findings related to CAH using structural, functional, and diffusion-weighted MRI.

Methods

We searched bibliographical databases through July 2021 for brain MRI studies in individuals with CAH.

Results

Twenty-eight studies were identified, including 13 case reports or series, 10 studies that recruited and studied CAH patients vs unaffected controls, and 5 studies without a matched control group. Eleven studies used structural MRI to identify structural abnormalities or quantify brain volumes, whereas 3 studies implemented functional MRI to investigate brain activity, and 3 reported diffusion MRI findings to assess white matter microstructure. Some commonly reported findings across studies included cortical atrophy and differences in gray matter volumes, as well as white matter hyperintensities, altered white matter microstructure, and distinct patterns of emotion and reward-related brain activity.

Conclusions

These findings suggest differences in brain structure and function in patients with CAH. Limitations of these studies highlight the need for CAH neuroimaging studies to incorporate larger sample sizes and follow best study design and MRI analytic practices, as well as clarify potential neurologic effects seen across the lifespan and in relation to clinical and behavioral CAH phenotypes.

中文翻译：

---

先天性肾上腺增生和大脑健康：结构、功能和弥散磁共振成像 (MRI) 调查的系统评价

背景

先天性肾上腺增生症 (CAH) 是一组影响肾上腺的遗传性疾病，是儿童原发性肾上腺功能不全的最常见原因。在过去的几十年中，磁共振成像 (MRI) 已被用于研究大脑如何受到 CAH 的影响。进行了一项系统评价，以使用结构、功能和弥散加权 MRI 评估和综合已报告的与 CAH 相关的大脑发现证据。

方法

我们在 2021 年 7 月之前的文献数据库中搜索了 CAH 患者的脑部 MRI 研究。

结果

确定了 28 项研究，包括 13 项病例报告或系列、10 项招募和研究 CAH 患者与未受影响对照组的研究，以及 5 项没有匹配对照组的研究。11 项研究使用结构 MRI 来识别结构异常或量化脑容量，而 3 项研究使用功能性 MRI 来研究大脑活动，3 项研究报告扩散 MRI 结果以评估白质微观结构。一些研究中普遍报告的发现包括皮质萎缩和灰质体积差异，以及白质高信号、改变的白质微观结构，以及不同的情绪模式和奖励相关的大脑活动。

结论

这些发现表明 CAH 患者的大脑结构和功能存在差异。这些研究的局限性凸显了 CAH 神经影像学研究需要纳入更大的样本量并遵循最佳研究设计和 MRI 分析实践，并阐明在整个生命周期以及与临床和行为 CAH 表型相关的潜在神经系统影响。