Li Xiaogang, Guo Ye, Wang Xi, Li Haolong, Mao Jiangfeng, Yan Songxin, Luo Guoju, Wang Renzhi, Wu Xueyan, Li Yongzhe
Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Medical Science Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Heliyon. 2023 Mar 23;9(4):e14779. doi: 10.1016/j.heliyon.2023.e14779. eCollection 2023 Apr.
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.
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).
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.
The metabolomics profiles in patients with nCHH changed. We hope that this work provides important insights into the pathophysiology of nCHH.
嗅觉正常的先天性低促性腺激素性性腺功能减退症（nCHH）是一种罕见疾病，其发病机制尚不清楚。在此，我们进行了非靶向代谢组学和脂质组学研究，以确定nCHH的精浆特征，并研究促黄体生成素（LH）和促卵泡生成素（FSH）缺乏对精液的影响。
招募了25例确诊的nCHH患者（HH组）和23名健康参与者（HC组）。收集实验室参数、精浆样本和患者的医疗数据。使用质谱（MS）进行非靶向代谢组学和脂质组学分析。
nCHH患者和健康对照之间的代谢组学分析结果有所改变。有160种差异代谢物，主要的不同脂质种类为甘油三酯（TAG）、磷脂酰胆碱（PC）、鞘磷脂（SM）和磷脂酰乙醇胺（PE）。
nCHH患者的代谢组学特征发生了变化。我们希望这项工作能为nCHH的病理生理学提供重要见解。
