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.