Liu Ziqin, Liu Yi, Gao Kang, Chen Xiaobo
Department of Endocrinology, Children's Hospital Capital Institute of Pediatrics, Beijing, China.
Front Pediatr. 2022 Aug 19;10:961268. doi: 10.3389/fped.2022.961268. eCollection 2022.
The most common cause of primary adrenal insufficiency (PAI) in children is congenital adrenal hyperplasia; however, other genetic causes occur. There is limited epidemiological and clinical information regarding non-CAH PAI.
Data for patients diagnosed from January 2015 to December 2021 at a tertiary hospital in northern China were retrospectively analyzed. We excluded those with CAH, which is the most common pathogenic disease among PAI patients. Next-generation sequencing was used for genetic analysis.
This retrospective study included 16 children (14 males and 2 females) with PAI. A genetic diagnosis was obtained for 14/16 (87.5%) individuals. Pathogenic variants occurred in 6 genes, including ABCD1 (6/16, 37.5%), NR0B1 (4/16, 25.0%), NR5A1/steroidogenic factor-1 (2/16; 12.5%), AAAS (1/16, 6.25%), and NNT (1/16, 6.25%). No genetic cause of PAI diagnosis was found in 2 girls (2/16, 12.5%).
Causes of PAI in children are diverse and predominantly affect males. Most PAI in children is congenital, and ABCD1 gene defects account for the largest proportion of PAI cases. Whole-exome sequencing is a tool for diagnosis. However, diagnoses are unclear in some cases.
儿童原发性肾上腺皮质功能减退症（PAI）最常见的病因是先天性肾上腺皮质增生症；然而，也存在其他遗传病因。关于非先天性肾上腺皮质增生症所致PAI的流行病学和临床信息有限。
回顾性分析2015年1月至2021年12月在中国北方一家三级医院确诊的患者数据。我们排除了先天性肾上腺皮质增生症患者，该病是PAI患者中最常见的致病疾病。采用二代测序进行基因分析。
这项回顾性研究纳入了16例PAI患儿（14例男性，2例女性）。14/16（87.5%）的个体获得了基因诊断。致病变异发生在6个基因中，包括ABCD1（6/16，37.5%）、NR0B1（4/16，25.0%）、NR5A1/类固醇生成因子-1（2/16；12.5%）、AAAS（1/16，6.25%）和NNT（1/16，6.25%）。2例女孩（2/16，12.5%）未发现PAI诊断的遗传病因。
儿童PAI的病因多样，且主要影响男性。儿童PAI大多为先天性，ABCD1基因缺陷在PAI病例中占比最大。全外显子测序是一种诊断工具。然而，在某些情况下诊断尚不明确。
