| 张一鸣,祝捷,叶山东.17α-羟化酶/17,20碳链裂解酶缺陷症的研究进展及挑战[J].中国临床保健杂志,2022,25(2):285-288. |
| 17α-羟化酶/17,20碳链裂解酶缺陷症的研究进展及挑战 |
| The development and challenges of 17α-hydroxylase/17,20 carbon chain lyase deficiency research |
| 投稿时间：2022-02-19 |
| DOI：10.3969/J.issn.1672-6790.2022.02.035 |
| 中文关键词: 肾上腺增生,先天性 基因表达 遗传变异 综述 |
| 英文关键词: Adrenal hyperplasia,congenital Gene expression Genetic variation Review 〖FL |
| 基金项目:中央引导地方科技发展专项资金项目(2017070802D147) |
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| 中文摘要: |
| 17α-羟化酶缺陷症是先天性肾上腺皮质增生症的一种罕见类型。以女性原发性闭经、男性假两性畸形、低肾素型高血压、低钾血症为主要临床表现。该病为罕见病且临床表现复杂,容易发生误诊。该文对17α-羟化酶缺陷症研究的发展与当前面临的挑战进行综述,有利于该病患者的明确诊断和及时干预。 |
| 英文摘要: |
| 17α-hydroxylase deficiency is a rare type of congenital adrenal hyperplasia.The main clinical manifestations are female primary amenorrhea,male pseudohermaphroditism,hypertension,and hypokalemia.This disease is a rare disease with complex clinical manifestations and is prone to misdiagnosis.This review focuses on the development and current challenges of 17α-hydroxylase deficiency research,which is conducive to the clear diagnosis and seasonable intervention of patients with this disease. |
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