Horm Metab Res 2025; 57(01): 39-46
DOI: 10.1055/a-2365-7521
Original Article: Endocrine Care
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
› Further Information
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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)
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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