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. 2023 Mar 23;9(4):e14779.
doi: 10.1016/j.heliyon.2023.e14779. eCollection 2023 Apr.

Seminal plasma metabolomics signatures of normosmic congenital hypogonadotropic hypogonadism

Xiaogang Li  1   2 , Ye Guo  1 , Xi Wang  3 , Haolong Li  1 , Jiangfeng Mao  3 , Songxin Yan  1 , Guoju Luo  1 , Renzhi Wang  4 , Xueyan Wu  3 , Yongzhe Li  1
Affiliations

Seminal plasma metabolomics signatures of normosmic congenital hypogonadotropic hypogonadism

Xiaogang Li et al. Heliyon. .

Erratum in

Abstract

Background: Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disease, whose pathogenesis remains unclear. Here, we conducted untargeted metabolomics and lipidomics to identify seminal plasma signatures of nCHH, and to study the effect of LH and FSH deficiency on semen.

Methods: Twenty-five diagnosed patients with nCHH (HH group) and twenty-three healthy participants (HC group) were enrolled. Laboratory parameters, seminal plasma samples and patients' medical data were collected. Untargeted metabolomics and lipidomic profiling were performed using mass spectrometry (MS).

Results: The metabolomics profiling are altered among patients with nCHH and healthy controls. There are 160 kinds of differential metabolites and the main different lipid species are TAG, PC, SM and PE.

Conclusions: The metabolomics profiles in patients with nCHH changed. We hope that this work provides important insights into the pathophysiology of nCHH.

Keywords: Lipidomics; Metabolomics; Normosmic congenital hypogonadotropic hypogonadism; Rare disease.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
(A) OPLS-DA model of metabolomics in ESI+/ESI– ionization mode. (B) Volcano plot of metabolomics in ESI+/ESI– ionization mode. ESI+: electrospray ionization at positive mode; ESI–: electrospray ionization at negative mode; OPLS-DA: orthogonal partial least squares-discriminant analysis.
Fig. 1
Fig. 1
(A) OPLS-DA model of metabolomics in ESI+/ESI– ionization mode. (B) Volcano plot of metabolomics in ESI+/ESI– ionization mode. ESI+: electrospray ionization at positive mode; ESI–: electrospray ionization at negative mode; OPLS-DA: orthogonal partial least squares-discriminant analysis.
Fig. 2
Fig. 2
(A) OPLS-DA model of lipidomics for group HH (green) vs control (HC, blue). (B) Volcano plot of lipidomics for group HH vs HC. Ions marked in pink show a significant difference in intensity between the HH and HC. OPLS-DA: orthogonal partial least squares-discriminant analysis.
Fig. 2
Fig. 2
(A) OPLS-DA model of lipidomics for group HH (green) vs control (HC, blue). (B) Volcano plot of lipidomics for group HH vs HC. Ions marked in pink show a significant difference in intensity between the HH and HC. OPLS-DA: orthogonal partial least squares-discriminant analysis.
Fig. 3
Fig. 3
(A) Heatmap of the top different features in metabolomics. (B) Heatmap of the top different features in lipidomics.
Fig. 3
Fig. 3
(A) Heatmap of the top different features in metabolomics. (B) Heatmap of the top different features in lipidomics.
Fig. 4
Fig. 4
(A) KEGG enrichment analysis for the HH vs HC groups. (B) Differential abundance score analysis for the HH vs HC groups.
Fig. 4
Fig. 4
(A) KEGG enrichment analysis for the HH vs HC groups. (B) Differential abundance score analysis for the HH vs HC groups.
Fig. 5
Fig. 5
Bubble plot for group the HH vs HC groups.
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