Abstract
BackgroundKallmann syndrome (KS) is a rare developmental disorder. Our previous metabolomics work showed substantial changes in linoleic acid and glycerophospholipid metabolism in KS. Here, we performed targeted lipidomics to further identify the differential lipid species in KS.MethodsTwenty-one patients with KS (treatment group) and twenty-two age-matched healthy controls (HC, control group) were enrolled. Seminal plasma samples and medical records were collected. Targeted lipidomics analysis of these samples was performed using ultraperformance liquid chromatography-quadrupole time-of-flight mass spectrometry (UPLC-QTOF-MS).ResultsLipidomics profiling of patients with KS and the HCs showed clear separation in the orthogonal projections to latent structures-discriminant analysis (OPLS-DA). There were many differential lipids identified, with the main differential lipid species being triacylglycerols (TAGs), phosphatidylcholines (PCs) and phosphatidylethanolamine (PE).ConclusionsThe lipidomics profile of patients with KS changed. It was also determined that TAGs, PCs and PE are promising biomarkers for KS diagnosis. To our knowledge, this is the first report to analyze lipidomics in men with Kallmann syndrome.
Highlights
Kallmann syndrome (KS) is a genetic disorder characterized by hypogonadotropic hypogonadism accompanied by anosmia or hyposmia, which is caused by congenital gonadotropin-releasing hormone (GnRH) deficiency and olfactory bulb hypoplasia [1]
Our previous metabolomics study showed that linoleic acid and glycerophospholipid metabolism are the main affected pathways in patients with KS [12]
The serum follicle-stimulating hormone (FSH), luteinizing hormone (LH) and testosterone (T) levels were significantly lower in the patients with KS than those in the control group (Table 1)
Summary
Kallmann syndrome (KS) is a genetic disorder characterized by hypogonadotropic hypogonadism accompanied by anosmia or hyposmia, which is caused by congenital gonadotropin-releasing hormone (GnRH) deficiency and olfactory bulb hypoplasia [1]. KS has genetic heterogeneity, including three methods of inheritance: Rare Disease autosomal recessive inheritance, autosomal dominant inheritance, and X-linked recessive inheritance [2, 3]. Metabolomics is an emerging “omics” method that quantitatively analyzes metabolites with a molecular mass of less than 1,000 and finds the relative relationship between pathological changes and metabolites [7]. It is an integral part of systems biology and has been used to develop biomarkers of seminal fluid in men with male factor infertility [8,9,10,11]. We performed targeted lipidomics to further identify the differential lipid species in KS
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