Background: This study was conducted to identify potential seminal plasma metabolic markers associated with disease activity in Kallmann syndrome (KS).
Methods: We collected medical records and seminal plasma samples from 17 KS patients and 20 age-matched healthy controls (HC) and performed metabolomics analysis using the UPLC-QTOF-MS method.
Results: Partial least squares discriminant analysis (PLS-DA) showed that the metabolomics profile of KS patients was clearly separated from HC. Statistical analysis of the data indicates that there are differential metabolites between KS patients and HC. The main metabolic pathways focus on linoleic acid (LA) metabolism, Glycerophospholipid metabolism.
Conclusions: The seminal plasma metabolomics profile of KS patients has changed. Glycerophospholipids and LA are promising biomarkers for KS diagnosis.
Keywords: Kallmann syndrome (KS); biomarker; metabolomics; rare disease.
2020 Annals of Translational Medicine. All rights reserved.