Research on the follow-up value of steroid hormones for 21-hydroxylase deficiency
10.3760/cma.j.cn114452-20210628-00400
- VernacularTitle:类固醇激素对21-羟化酶缺乏症患者随访价值的研究
- Author:
Tian LAN
1
;
Hui YAO
;
Lifang FENG
;
Jie LUO
;
Wen RUAN
Author Information
1. 华中科技大学同济医学院附属武汉儿童医院遗传代谢内分泌科，武汉 430016
- Keywords:
21-hydroxylase deficiency;
Liquid chromatography-tandem mass spectrometry;
Steroids;
Follow-up
- From:
Chinese Journal of Laboratory Medicine
2022;45(3):289-295
- CountryChina
- Language:Chinese
-
Abstract:
Objective:This study explored the consistency of liquid chromatography-tandem mass spectrometry (LC-MS/MS) and immunoassay for the detection of steroid hormones. The diagnostic value of multiple steroid hormones in 21-hydroxylase deficiency (21-OHD) was investigated and the follow-up indicators were screened.Methods:This experimental group included 109 patients with typical 21-OHD who received standard treatment, and the control group included 94 normal children. 17-hydroxyprogesterone (17-OHP), androstenedione (Δ4-A), testosterone and cortisol were detected by immunoassay and LC-MS/MS method. At the same time, 16 other adrenal steroids were detected by LC-MS/MS method. The experimental group was divided into: (1) overtreatment group: 17OHP<4 ng/ml; (2) well controlled group: 4 ng/ml≤17-OHP<12 ng/ml; (3) poorly controlled group: 17-OHP≥12 ng/ml. The following studies were carried out. (1) The consistency of immunoassay and LC-MS/MS detection results was analyzed; (2) The serum concentrations of various steroid hormones in patients with 21-OHD and the control group were compared to explore the diagnostic value of multiple steroid hormones detection; (3) The concentration differences of 20 kinds of steroid hormones in 21-OHD patients with different therapeutic effects were compared to screen more valuable follow-up indicators.Results:(1) among the four indicators detected by LC-MS/MS and immunoassay, the consistency of T and 17-OHP was high. The concentrations of cortisol and Δ4-A determined by immunoassay were higher than those determined by LC-MS/MS. (2) Among the 20 kinds of steroid hormones secreted by adrenal gland detected by LC-MS/MS, 6 kinds of hormones were significantly higher and 6 kinds of hormones were significantly lower in 21-OHD patients compared with the control group, ,and 8 kinds of steroids showed no statistical difference. (3) 17-OHP decreased and 11-deoxycortisol increased in over-inhibition group, while 17-OHP, pregnenolone, progesterone, 17-hydroxypregnenolone, 21-deoxycortisol, Δ4-A and estrone increased in the poorly controlled group.Conclusions:LC-MS/MS can detect many kinds of steroid hormones at one time with better evaluate dimensions. During the follow-up, only 8 of the 20 hormones were closely related to the control status of patients, suggesting that unnecessary testing work could be reduced.
