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Horm Metab Res
DOI: 10.1055/a-2365-7521
Original Article: Endocrine Care

Metabolic Profiling Analysis of Congenital Adrenal Hyperplasia via an Untargeted Metabolomics Strategy

Fangling Liu
1   Key Laboratory of Analytical Chemistry of the State Ethnic Affairs Commission, School of Chemistry and Materials Science, South-Central Minzu University, Wuhan, China (Ringgold ID: RIN12404)
,
Chongxin Kang
1   Key Laboratory of Analytical Chemistry of the State Ethnic Affairs Commission, School of Chemistry and Materials Science, South-Central Minzu University, Wuhan, China (Ringgold ID: RIN12404)
,
Zheng Hu
1   Key Laboratory of Analytical Chemistry of the State Ethnic Affairs Commission, School of Chemistry and Materials Science, South-Central Minzu University, Wuhan, China (Ringgold ID: RIN12404)
,
Xiaoping Luo
2   Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
,
Wei Wu
2   Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
,
Qiuying Tao
1   Key Laboratory of Analytical Chemistry of the State Ethnic Affairs Commission, School of Chemistry and Materials Science, South-Central Minzu University, Wuhan, China (Ringgold ID: RIN12404)
,
Quan Chi
1   Key Laboratory of Analytical Chemistry of the State Ethnic Affairs Commission, School of Chemistry and Materials Science, South-Central Minzu University, Wuhan, China (Ringgold ID: RIN12404)
,
Jing Yang
1   Key Laboratory of Analytical Chemistry of the State Ethnic Affairs Commission, School of Chemistry and Materials Science, South-Central Minzu University, Wuhan, China (Ringgold ID: RIN12404)
,
Xian Wang
1   Key Laboratory of Analytical Chemistry of the State Ethnic Affairs Commission, School of Chemistry and Materials Science, South-Central Minzu University, Wuhan, China (Ringgold ID: RIN12404)
› Author Affiliations Fundings National Natural Science Foundation of China | Grant No. 22276221 Fundamental Research Funds for the Central Universities, and South-Central Minzu University | Grant No. CZP21002
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Abstract

Congenital adrenal hyperplasia (CAH) manifests as an autosomal recessive disorder characterized by defects in the enzymes responsible for steroid synthesis. This work aims to perform metabolic profiling of patients with CAH, screen key differential metabolites compared to the control group, and discover the associated metabolic pathways implicated in CAH. Serum samples obtained from 32 pediatric male patients with CAH and 31 healthy control group candidates were subjected to analysis using non-targeted metabolomics strategy using ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). A total of 278 differential metabolites were identified and annotated in KEGG. Operating characteristic curves (ROC) measurement exhibited 9 metabolites exhibiting high efficacy in differential diagnosis, as evidenced by an area under ROC curve (AUC) exceeding 0.85. Pathway analysis uncovered notable disruptions in steroid hormone biosynthesis (p <0.0001), purine metabolism and irregularities in lipid metabolism and amino acid metabolism, including tyrosine and alanine, in CAH patients. These findings demonstrate that metabolic pathways of purine, amino acid and lipid metabolism, apart from steroid hormone biosynthesis, may be disrupted and associated with CAH. This study helps provide insight into the metabolic profile of CAH patients and offers a new perspective for monitoring and administering follow-up care to CAH patients.

Keywords

congenital adrenal hyperplasia - untargeted metabolomics - differential metabolites - metabolic pathways - ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS)

Supplementary Material



Publication History

Received: 03 April 2024

Accepted after revision: 03 July 2024

Article published online:
12 August 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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