[1]马婧,杜雅丽,权金星.17α-羟化酶缺陷症诊治研究进展[J].国际内分泌代谢杂志,2020,40(05):323-326.[doi:10.3760/cma.j.cn121383-20200201-02001]
　Ma Jing,Du Yali,Quan Jinxing.Research progress of diagnosis and treatment of 17α-hydroxylase deficiency[J].International Journal of Endocrinology and Metabolism,2020,40(05):323-326.[doi:10.3760/cma.j.cn121383-20200201-02001]
点击复制

17α-羟化酶缺陷症诊治研究进展()
分享到：

《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
40
期数:
2020年05期
页码:
323-326
栏目:
综述
出版日期:
2020-09-20

文章信息/Info

Title:
Research progress of diagnosis and treatment of 17α-hydroxylase deficiency
作者:
马婧1; 杜雅丽2; 权金星1
1甘肃省人民医院内分泌代谢科,兰州 730000; 2华中科技大学同济医学院附属协和医院眼科,武汉 430000
Author(s):
Ma Jing1;  Du Yali2;  Quan Jinxing1
1Department of Endocrinology and Metabolism, Gansu Provincial Hospital, Lanzhou 730000, China; 2Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
关键词:
17α-羟化酶缺陷症;  先天性肾上腺皮质增生症;  高血压;  低钾血症
Keywords:
17α-hydroxylase deficiency;  Congenital adrenal hyperplasia;  Hypertension;  Hypokalemia
DOI:
10.3760/cma.j.cn121383-20200201-02001
文献标志码:
A
摘要:
17α-羟化酶缺陷症(17OHD)是由编码17α-羟化酶(P450c17酶)的CYP17A1基因突变所致肾上腺皮质激素和性激素合成障碍的一种罕见常染色体隐性遗传病。高血压、低钾血症、性发育异常等为其主要表现,由于该疾病临床表现复杂多样,患者早期症状不典型,临床上误诊率和漏诊率高。结合目前最新的研究证据,介绍17OHD的流行病学、病因和发病机制、临床表现、诊断和鉴别诊断、治疗和预后,可加深对该疾病的认识,从而更好的指导临床工作。
Abstract:
17α-hydroxylase deficiency(17OHD)is a rare autosomal recessive disease of adrenocortical hormone and sex hormone synthesis disorder caused by mutation of CYP17A1 gene encoding 17-α hydroxylase(P450c17 enzyme). The disease characterized by hypertension, hypokalemia and disorders of sex development. Due to complicated manifestation and untypical early symptom, the misdiagnosis rate and missed diagnosis rate are high. According to the latest research evidence, the epidemiology, etiology and pathogenesis, clinical manifestations, diagnosis and differential diagnosis, treatment and prognosis of 17OHD are introduced, which aims to better guide clinical work through the profound understanding of 17OHD.

参考文献/References:

[1] 中华医学会儿科学分会内分泌遗传代谢病学组. 先天性肾上腺皮质增生症21-羟化酶缺陷诊治共识[J]. 中华儿科杂志, 2016, 54(8):569-576.DOI:10.3760/cma.j issn 0578-1310 2016.08 003.
[2] El-Maouche D, Arlt W, Merke DP, et al. Congenital adrenal hyperplasia[J].Lancet, 2017, 390(10108):2194-2210.DOI:10.1016/S0140-6736(17)31431-9.
[3] Hinz L, Pacaud D, Kline G. Congenital adrenal hyperplasia causing hypertension: an illustrative review[J].J Hum Hypertens, 2018,32(2):150-157. DOI:10.1038/s41371-017-0002-5.
[4] Fontenele R, Costa-Santos M, Kater CE. 17α-hydroxylase deficiency is an underdiagnosed disease:high frequency of misdiagnoses in a large cohort of brazilian patients[J].Endocr Pract, 2018,24(2):170-178. DOI:10.4158/EP171987.OR.
[5] Espinosa-Herrera F, Espín E, Tito-Álvarez AM, et al. A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters[J].Gynecol Endocrinol, 2020,36(1):24-29. DOI:10.1080/09513590.2019.1650342.
[6] Costa-Santos M, Kater CE, Auchus RJ,et al. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency[J].J Clin Endocrinol Metab, 2004,89(1):49-60.DOI:10.1210/jc.2003-031021.
[7] Zhang MN, Sun SY, Liu YL, et al. New, recurrent, and prevalent mutations:clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency[J].J Steroid Biochem Mol Biol,2015,150:11-16.DOI:10.1016/j.jsbmb.2015.02.007.
[8] Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man[J].J Clin Invest, 1966,45(12):1946-1954.DOI:10.1172/JCI105499.
[9] Laura H, Daniele P,Kline G. Congenital adrenal hyperplasia causing hypertension:an illustrative review [J].J Hum Hypertens, 2018,32(2):150-157.DOI:10.1038/s41371-017-0002-5.
[10] Lam CW, Arlt W, Chan CK, et al. Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency[J].Mol Genet Metab, 2001, 72(3):254-259.DOI:10.1006/mgme.2000.3134.
[11] Aydin Z, Ozturk S, Gursu M, et al. Male pseudohermaphroditism as a cause of secondary hypertension:a case report[J].Endocrine, 2010, 38(1):100-103.DOI:10.1007/s12020-010-9357-x.
[12] 王彬, 宋康兴, 冯丽洁,等. 17α-羟化酶缺陷症的早期诊断与干预[J].中国全科医学, 2013, 16(23):2738-2739. DOI:10.3969/j.issn.1007-9572.2013.23.022.
[13] Kardelen AD, Toksoy G, Ba F, et al. A rare cause of congenital adrenal hyperplasia:clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel mutations[J].J Clin Res Pediatr Endocrinol, 2018,10(3):206-215.DOI:10.4274/jcrpe.0032.
[14] Han B, Xue LQ, Fan MX, et al. Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect[J].Endocrine, 2016, 53(3):784-790. DOI:10.1007/s12020-016-0957-y.
[15] Miller WL. Mechanisms in endocrinology:rare defects in adrenal steroidogenesis[J].Eur J Endocrinol, 2018, 179(3):R125-R141. DOI:10.1530/EJE-18-0279.
[16] Wang YP, Li J, Li JX, et al. Three novel CYP17A1 gene mutations(A82D, R125X, and C442R)found in combined 17α-hydroxylase/17,20-lyase deficiency[J].Metabolism, 2011, 60(10):1386-1391.DOI:10.1016/j.metabol.2011.03.008.
[17] Kota SK, Modi K, Jha R, et al. 17-α-Hydroxylase deficiency:an unusual case with primary amenorrhea and hypertension[J].Indian J Endocrinol Metab, 2011,15(2):127-129. DOI:10.4103/2230-8210.81945.
[18] Wu CM,Fan SS,Qian YY,et al. 17α-hydroxylase/17,20-lyase deficiency:clinical and molecular characterization of eight Chinese patients[J]. Endocr Pract, 2017, 23(5):576-582. DOI:10.4158/EP161610.OR.
[19] 赵芳玉.17α-羟化酶缺陷症的临床研究进展[J]. 疑难病杂志, 2018, 17(12):1391-1394. DOI:10.3969/j.issn.1671-6450.2018.12.024.
[20] Rubtsov P, Nizhnik A, Dedov I, et al. Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif[J].Eur J Endocrinol, 2015,172(5):K19-K25. DOI:10.1530/EJE-14-0834.
[21] 詹瑛, 程璐, 熊梦华.细胞色素P450氧化还原酶基因突变致罕见先天性肾上腺皮质增生症一例[J].中华围产医学杂志, 2018,21(12):825-829. DOI:10.3760/cma.j.issn.1007-9408.2018.12.007.
[22] 解敏, 王红英, 陈临琪,等.Antley-Bixler综合征的临床研究进展[J]. 中华医学遗传学杂志, 2018, 35(2):280-283. DOI:10.3760/cma.j.issn.1003-9406.2018.02.031.
[23] 杜培洁, 刘彦玲, 刘飞,等.17β-羟类固醇脱氢酶3型缺陷症一例[J]. 中华内科杂志, 2019, 58(8):604-606. DOI:10.3760/cma.j.issn.0578-1426.2019.08.012.
[24] 魏红玲,鲁珊,王新利, 等.以严重高血压就诊的17α-羟化酶缺乏症[J].中国当代儿科杂志,2018,20(8):675-679. DOI:10.7499/j.issn.1008-8830.2018.08.014.
[25] Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic [J].J Steroid Biochem Mol Biol,2017,165:71-78.DOI:10.1016/j.jsbmb.2016.02.002.
[26] Nella AA, Mallappa A, Perritt AF, et al. A phase 2 study of continuous subcutaneous hydrocortisone infusion in adults with congenital adrenal hyperplasia[J]. J Clin Endocrinol Metab,2016,101(12):4690-4698. DOI:10.1210/jc.2016-1916.
[27] Ruiz-Babot G, Hadjidemetriou I, King PJ, et al. New directions for the treatment of adrenal insufficiency[J]. Front Endocrinol(Lausanne),2015, 6(70):1-8. DOI: 10.3389/fendo.2015.00070.

相似文献/References:

[1]郭伟红,何庆.21-羟化酶缺陷症的围妊娠期管理研究进展[J].国际内分泌代谢杂志,2023,43(02):128.[doi:10.3760/cma.j.cn121383-20211202-12006]
　Guo Weihong,He Qing..Peripregnancy management of 21-hydroxylase deficiency[J].International Journal of Endocrinology and Metabolism,2023,43(05):128.[doi:10.3760/cma.j.cn121383-20211202-12006]
[2]曾少豪,单双红,何君瑜,等.血清17羟孕酮升高的临床鉴别诊断思路[J].国际内分泌代谢杂志,2023,43(06):485.[doi:10.3760/cma.j.cn121383-20221209-12020]
　Zeng Shaohao,Shan Shuanghong,He Junyu,et al.Clinical interpretation of elevated serum 17 hydroxyprogesterone levels[J].International Journal of Endocrinology and Metabolism,2023,43(05):485.[doi:10.3760/cma.j.cn121383-20221209-12020]

备注/Memo

备注/Memo:
基金项目:国家自然科学基金(81860091) 通信作者:权金星,Email:quanxt@sina.com 马婧,杜雅丽为共同第一作者
更新日期/Last Update: 2020-09-20