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

Clinical characteristics of 5 patients with 17α-hydroxylase deficiency and LC-MS/MS method for the measurement of steroid hormones

目的分析成年后诊断的17α-羟化酶缺陷症患者临床特征,提高对17α-羟化酶缺陷症的认识和合理诊治。方法回顾分析2018年至2020年在我院诊治的5例17α-羟化酶缺陷症患者临床特征及生化结果。结果5例17α-羟化酶缺陷症患者的社会性别均为女性,首次就诊我科并诊断时均已成年。所有5例患者均有高血压,低钾血症,双侧肾上腺增生或腺瘤,合并骨质疏松。均有典型的类固醇合成相关激素谱的变化。结论应用液相色谱串联质谱(LC-MS/MS)检测类固醇激素可以为17α-羟化酶缺陷症的早期诊断,酶缺乏种类、程度的评估以及治疗提供重要帮助。对此类患者,需选用合理的抗骨质疏松药物。

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.