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. 2022 Jul 15;17(1):267.
doi: 10.1186/s13023-022-02408-4.

Seminal plasma metabolomics and lipidomics profiling to identify signatures of pituitary stalk interruption syndrome

Ye Guo #  1 , Xiaogang Li #  1   2 , Xi Wang #  3 , Haolong Li  1 , Guoju Luo  1 , Yongzhen Si  1 , Xueyan Wu  4 , Yongzhe Li  5
Affiliations

Seminal plasma metabolomics and lipidomics profiling to identify signatures of pituitary stalk interruption syndrome

Ye Guo et al. Orphanet J Rare Dis. .

Abstract

Background: Pituitary stalk interruption syndrome (PSIS) is a rare disease caused by congenital pituitary anatomical defects. The underlying mechanisms remain unclear, and the diagnosis is difficult. Here, integrated metabolomics and lipidomics profiling were conducted to study the pathogenesis of PSIS.

Methods: Twenty-one patients with PSIS (BD group) and twenty-three healthy controls (HC group) were enrolled. Basal information and seminal plasma samples were collected. Untargeted metabolomics and lipidomics analyses were performed using ultraperformance liquid chromatography-quadrupole time-of-flight mass spectrometry (UPLC-QTOF-MS).

Results: The metabolomics and lipidomics profiles of patients with PSIS changed. The prolactin signaling pathway and biosynthesis of amino acids were the main differentially modified metabolic pathways. The main differentially modified metabolites were triacylglycerols (TGs), phosphatidylethanolamine (PE), sphingomyelin (SM), ceramide (Cer) and phosphatidylcholines (PCs). Pregnenolones and L-saccharopine could achieve a diagnosis of PSIS.

Conclusions: Pregnenolones and L-saccharopine are potential biomarkers for a PSIS diagnosis.

Keywords: Biomarker; Lipidomics; Metabolomics; Pituitary stalk interruption syndrome; Rare disease.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
(A) OPLS-DA model of metabolomics in ESI + ionization mode. (B) Volcano plot of metabolomics in ESI + ionization mode
Fig. 2
Fig. 2
(A) OPLS-DA model of lipidomics for PSIS (BD group, green) vs. control (HC, blue). (B) Volcano plot of lipidomics for PSIS (BD group) vs. HC
Fig. 3
Fig. 3
(A) Heatmap of the top differential features in metabolomics. (B) Heatmap of the top different features in lipidomics
Fig. 4
Fig. 4
(A) KEGG enrichment analysis for the PSIS vs. HC groups. (B) Differential abundance score analysis for the PSIS vs. HC groups
Fig. 5
Fig. 5
Lipid group bubble plot for the PSIS vs. HC groups
Fig. 6
Fig. 6
The ROC curve of the panel generated by combining pregnenolone sulfate and L-saccharopine
See this image and copyright information in PMC

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