Steroid profiling for the diagnosis of congenital adrenal hyperplasia by microbore ultra-performance liquid chromatography-tandem mass spectrometry

作者全名:"Feng, Disheng; Wang, Zixuan; Li, Hang; Shi, Xianzhe; Zou, Lin; Kong, Hongwei; Xu, Zhiliang; Yu, Chaowen; Hu, Chunxiu; Xu, Guowang"

作者地址:"[Feng, Disheng; Wang, Zixuan; Li, Hang; Shi, Xianzhe; Hu, Chunxiu; Xu, Guowang] Chinese Acad Sci, Dalian Inst Chem Phys, CAS Key Lab Separat Sci Analyt Chem, Dalian 116023, Peoples R China; [Feng, Disheng; Wang, Zixuan; Shi, Xianzhe; Hu, Chunxiu; Xu, Guowang] Univ Chinese Acad Sci, Beijing 100049, Peoples R China; [Zou, Lin] Shanghai Jiao Tong Univ, Childrens Hosp, Clin Res Unit, Shanghai, Peoples R China; [Kong, Hongwei; Xu, Zhiliang] Hangzhou Hanku Med Lab, Hangzhou 310000, Peoples R China; [Yu, Chaowen] Chongqing Med Univ, Childrens Hosp, Ctr Clin Mol Med & Newborn Screening, Chongqing 400014, Peoples R China; [Yu, Chaowen] Natl Clin Res Ctr Child Hlth & Disorders, Chongqing 400014, Peoples R China; [Yu, Chaowen] Minist Educ, Key Lab Child Dev & Disorders, Chongqing 400014, Peoples R China; [Yu, Chaowen] Chongqing Engn Res Ctr Stem Cell Therapy, Chongqing 400014, Peoples R China; [Xu, Guowang] Liaoning Prov Key Lab Metabol, Dalian 116023, Peoples R China; [Yu, Chaowen] Chongqing Med Univ, Childrens Hosp, 136 Zhongshan 2nd Rd, Chongqing 400014, Peoples R China"

通信作者:"Hu, CX (通讯作者),Chinese Acad Sci, Dalian Inst Chem Phys, CAS Key Lab Separat Sci Analyt Chem, Dalian 116023, Peoples R China.; Yu, CW (通讯作者),Chongqing Med Univ, Childrens Hosp, 136 Zhongshan 2nd Rd, Chongqing 400014, Peoples R China."

来源:CLINICA CHIMICA ACTA

ESI学科分类:CLINICAL MEDICINE

WOS号:WOS:000963894700001

JCR分区:Q1

影响因子:5

年份:2023

卷号:543

期号: 

开始页: 

结束页: 

文献类型:Article

关键词:Dried blood spots; Steroid profiling; Congenital adrenal hyperplasia; Microbore ultra -performance liquid; chromatography-mass spectrometry

摘要:"Background: A rapid and accurate measurement approach for 17 alpha-hydroxyprogesterone (17-OHP) and related steroids in amount/volume-limited clinic samples is of importance for precise newborn diagnosis of congenital adrenal hyperplasia (CAH) and its subtypes in clinic.Methods: Sixteen steroids (17-OHP, androstenedione, cortisol, tetrahydro-11-deoxycortisol, pregnenolone, pro-gesterone, 11-deoxycorticosterone, corticosterone, 21-deoxycortisol, 11-deoxycortisol, dehydroepiandrosterone, testosterone, aldosterone, 17 alpha-hydroxypregnenolone, dihydrotestosterone and 18-hydroxycorticosterone) were included in the panel of high-throughput microbore ultra-performance liquid chromatography-tandem mass spectrometry. Samples were collected from 126 normal subjects and 65 patients including different subtypes of CAH.Results: The method was validated with satisfactory analytical performance in linearity, repeatability, recovery and limit of detection. Reference intervals for 16 steroids were established by quantifying the level of steroids detected in normal infants. The applicability of the method was tested by differentiating steroid metabolic characteristics between normal infants and infants with CAH, as well as between infants with different CAH subtypes. The relevance of 17-OHP, 21-deoxycortisol, and 17-OHP/11-deoxycortisol for 21-hydroxylase defi-ciency screening was demonstrated. The level of 11-deoxycorticosterone, 11-deoxycortisol, progesterone and androstenedione can be used for the diagnosis of different rare subtypes of CAH.Conclusion: This study provides a strategy for highly efficient steroid analysis of amount/volume-limited clinic samples and holds great potential for clinical diagnosis of CAH."

基金机构:"National Natural Science Foundation of China [21874130, 21934006]; National Key Research and Development Program of China [SQ2022YFC3400054]"

基金资助正文:"Funding This research was supported by the foundations from the National Natural Science Foundation of China (No. 21874130 and No. 21934006) , and the National Key Research and Development Program of China (SQ2022YFC3400054) ."