Clinical characteristics of 5 patients with 17α-hydroxylase deficiency and LC-MS/MS method for the measurement of steroid hormones
10.3760/cma.j.cn311282-20210227-00128
- VernacularTitle:五例17α-羟化酶缺陷症患者临床特征及类固醇激素的质谱测定
- Author:
Beibei GAO
1
;
Lin ZHAO
;
Jingjing JIANG
;
Wei GUO
;
Xiaomu LI
;
Zhiqiang LU
;
Xiaoying LI
Author Information
1. 复旦大学附属中山医院内分泌科，上海 200032
- Keywords:
17α-hydroxylase deficiency;
Liquid chromatography tandem mass spectrometry;
Osteoporosis
- From:
Chinese Journal of Endocrinology and Metabolism
2022;38(2):132-138
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze clinical characteristics of 17α-hydroxylase deficiency, and to facilitate the understanding and management of the disease.Methods:A retrospective analysis of the clinical characteristics and biochemical results of 5 cases with 17α-hydroxylase deficiency diagnosed and treated from 2018 to 2020.Results:All 5 patients were female as social gender, and reached adulthood upon first clinic visit to our department and got diagnosed. All 5 cases had hypertension, hypokalemia, bilateral adrenal hyperplasia or adenoma, osteoporosis, and typical hormone changes related to steroid synthesis.Conclusion:Steroid hormone tests with liquid chromatography tandem mass spectrometry(LC-MS/MS) enable early diagnosis of 17α-hydroxylase deficiency, assessment of the type and degree of enzyme deficiency, and choice of treatment. For such patients, it is necessary to give appropriate anti-osteoporosis therapy.
