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 All5 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 chromatographytandem 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.
| Translated title of the contribution | Clinical characteristics of 5 patients with 17α-hydroxylase deficiency and LC-MS / MS method for themeasurement of steroid hormones |
|---|---|
| Original language | Chinese (Traditional) |
| Pages (from-to) | 132-138 |
| Number of pages | 7 |
| Journal | Chinese Journal of Endocrinology and Metabolism |
| Volume | 38 |
| Issue number | 2 |
| DOIs | |
| State | Published - 25 Feb 2022 |
| Externally published | Yes |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
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