Clinical characteristics of 5 patients with 17α-hydroxylase deficiency and LC-MS/MS method for the measurement of steroid hormones / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 132-138, 2022.
Article
de Zh
| WPRIM
| ID: wpr-933379
Bibliothèque responsable:
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Type d'étude:
Screening_studies
langue:
Zh
Texte intégral:
Chinese Journal of Endocrinology and Metabolism
Année:
2022
Type:
Article