• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

17-hydroxylation deficiency in man.

作者信息

Biglieri E G, Herron M A, Brust N

出版信息

J Clin Invest. 1966 Dec;45(12):1946-54. doi: 10.1172/JCI105499.

DOI:10.1172/JCI105499
PMID:4288776
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC292880/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6706/292880/353ed0d67ed5/jcinvest00270-0141-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6706/292880/68650ac332e2/jcinvest00270-0139-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6706/292880/d313c03ec17e/jcinvest00270-0140-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6706/292880/353ed0d67ed5/jcinvest00270-0141-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6706/292880/68650ac332e2/jcinvest00270-0139-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6706/292880/d313c03ec17e/jcinvest00270-0140-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6706/292880/353ed0d67ed5/jcinvest00270-0141-a.jpg

相似文献

1
17-hydroxylation deficiency in man.人类17-羟化酶缺乏症
J Clin Invest. 1966 Dec;45(12):1946-54. doi: 10.1172/JCI105499.
2
Effect of potassium intake on the final steps of aldosterone biosynthesis in the rat. II. 11 -hydroxylation.钾摄入对大鼠醛固酮生物合成最后步骤的影响。II. 11β-羟化作用。
Acta Endocrinol (Copenh). 1972 Apr;69(4):718-30. doi: 10.1530/acta.0.0690718.
3
Evaluation of the efficiency of 11-beta-hydroxylation of 11-deoxycortisol in human subjects.人体受试者中11-脱氧皮质醇11-β-羟化效率的评估。
J Clin Endocrinol Metab. 1967 Mar;27(3):365-70. doi: 10.1210/jcem-27-3-365.
4
11-beta-hydrosylase deficiency: steroid response to sodium restriction and ACTH stimulation.11-β-羟化酶缺乏症：类固醇对限钠及促肾上腺皮质激素刺激的反应
J Clin Endocrinol Metab. 1972 Aug;35(2):281-7. doi: 10.1210/jcem-35-2-281.
5
Some studies on the effect of androgens on adrenal cortical function of rats.关于雄激素对大鼠肾上腺皮质功能影响的一些研究。
Endocrinology. 1970 May;86(5):1085-92. doi: 10.1210/endo-86-5-1085.
6
[21-hydroxylase deficiency detected late in a man with chronic asthenia].[一名慢性虚弱男性中晚期发现的21-羟化酶缺乏症]
Ann Endocrinol (Paris). 1967 Jan-Feb;28(1):71-7.
7
Steroid hydroxylation in bovine adrenocortical mitochondria. Competition between side-chain cleavage of cholesterol and 11 beta hydroxylation.牛肾上腺皮质线粒体中的类固醇羟基化。胆固醇侧链裂解与11β羟基化之间的竞争。
Biochemistry. 1971 Apr 13;10(8):1496-502.
8
Study of the level of production of cortisol, corticosterone, aldosterone and deoxycorticosterone in 4 cases of congenital adrenal hyperplasia due to II beta-hydroxylase deficiency.4例因Ⅱβ-羟化酶缺乏所致先天性肾上腺皮质增生症患者皮质醇、皮质酮、醛固酮及脱氧皮质酮生成水平的研究。
Rev Eur Etud Clin Biol. 1971 Jun-Jul;16(6):585-90.
9
[Primary hypoaldosteronism caused by a probable anomaly of 18-hydroxylation].[由可能的18-羟化异常引起的原发性醛固酮增多症]
Arch Fr Pediatr. 1969 Aug-Sep;26(7):769-77.
10
[Case report on a female patient with 17- -hydroxylase deficiency].[一名患有17-α-羟化酶缺乏症女性患者的病例报告]
Verh Dtsch Ges Inn Med. 1971;77:1057-60.

引用本文的文献

1
Three misdiagnoses before a final diagnosis of 17α-hydroxylase/17,20-lyase deficiency: A case report.17α-羟化酶/17,20-裂解酶缺乏症最终确诊前的三次误诊：一例报告
Medicine (Baltimore). 2025 Jul 25;104(30):e43467. doi: 10.1097/MD.0000000000043467.
2
Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α-Hydroxylase/17,20-Lyase Deficiency: A Retro-Prospective Study of a Large Patient Cohort.延迟骨成熟和延长生长阶段作为17α-羟化酶/17,20-裂解酶缺乏症的显著特征：一项对大型患者队列的回顾性前瞻性研究。
Clin Endocrinol (Oxf). 2025 Sep;103(3):303-310. doi: 10.1111/cen.15261. Epub 2025 May 11.
3

本文引用的文献

1
The effects of chorionic gonadotropin in adult men: increased estrogen and 17-ketosteroid excretion, gynecomastia, leydig cell stimulation and semi-niferous tubule damage.绒毛膜促性腺激素对成年男性的影响：雌激素和17 - 酮类固醇排泄增加、乳腺增生、睾丸间质细胞受刺激以及曲细精管损伤。
J Clin Endocrinol Metab. 1952 Aug;12(8):985-1014. doi: 10.1210/jcem-12-8-985.
2
A sensitive biologic assay for ACTH.一种用于促肾上腺皮质激素（ACTH）的灵敏生物测定法。
Endocrinology. 1962 Jul;71:13-23. doi: 10.1210/endo-71-1-13.
3
The metabolism of corticosterone in man.人体内皮质酮的代谢
Successful Pregnancy in Isolated 17,20-lyase Deficiency Without Glucocorticoid Use or Assisted Reproduction Techniques.
孤立性17,20-裂解酶缺乏症患者未使用糖皮质激素或辅助生殖技术而成功妊娠
JCEM Case Rep. 2024 Jun 26;2(6):luae100. doi: 10.1210/jcemcr/luae100. eCollection 2024 Jun.
4
Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.青春期后由于 17α-羟化酶缺陷导致的未识别先天性肾上腺皮质增生症的临床特征：病例报告。
J ASEAN Fed Endocr Soc. 2023;38(2):131-134. doi: 10.15605/jafes.038.02.08. Epub 2023 Jun 21.
5
A Chinese girl with delayed puberty due to 17α-hydroxylase deficiency: the diagnosis, treatment and monitoring approach.一名因17α-羟化酶缺乏导致青春期延迟的中国女孩：诊断、治疗及监测方法
Endocrinol Diabetes Metab Case Rep. 2023 Sep 23;2023(3). doi: 10.1530/EDM-23-0047. Print 2023 Jul 1.
6
Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.不孕 17α-羟化酶/17,20-裂合酶缺陷患者接受辅助生殖治疗的内分泌特征和周期特征：一项回顾性队列研究。
J Ovarian Res. 2023 Jun 14;16(1):111. doi: 10.1186/s13048-023-01190-6.
7
Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype.一名核型为46,XY的患者在晚年被诊断为17-α羟化酶缺乏症。
Endocrinol Diabetes Metab Case Rep. 2023 May 18;2023(2). doi: 10.1530/EDM-22-0338. Print 2023 May 1.
8
Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China.来自中国的两名46,XX、合并17α-羟化酶/17,20-裂解酶缺乏症的无关女童的临床与遗传学分析
J Clin Res Pediatr Endocrinol. 2025 May 27;17(2):211-218. doi: 10.4274/jcrpe.galenos.2023.2022-8-7. Epub 2023 Feb 20.
9
Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review.46,XX 核型 17α-羟化酶/17,20-裂合酶缺陷的女孩中伴生殖细胞瘤的卵巢性腺母细胞瘤：病例报告及文献复习。
Front Endocrinol (Lausanne). 2022 Dec 15;13:989695. doi: 10.3389/fendo.2022.989695. eCollection 2022.
10
An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report.17α-羟化酶缺陷症老年患者被误诊为原发性醛固酮增多症：病例报告。
BMC Endocr Disord. 2022 Dec 2;22(1):300. doi: 10.1186/s12902-022-01216-y.
J Clin Invest. 1960 May;39(5):741-57. doi: 10.1172/JCI104091.
4
Estrogens and adrenocortical function in man.男性体内的雌激素与肾上腺皮质功能
J Clin Endocrinol Metab. 1960 Apr;20:495-514. doi: 10.1210/jcem-20-4-495.
5
Double isotope derivative assay of aldosterone in biological extracts.生物提取物中醛固酮的双同位素衍生物测定法。
J Biol Chem. 1960 Jun;235:1639-48.
6
ESTIMATION OF PROGESTERONE IN HUMAN PERIPHERAL BLOOD USING 35S-THIOSEMICARBAZIDE.使用³⁵S-氨基硫脲测定人外周血中的孕酮
J Clin Endocrinol Metab. 1965 Feb;25:229-42. doi: 10.1210/jcem-25-2-229.
7
SUPPRESSION OF PLASMA RENIN ACTIVITY IN PRIMARY ALDOSTERONISM.原发性醛固酮增多症中血浆肾素活性的抑制
JAMA. 1964 Oct 19;190:213-21. doi: 10.1001/jama.1964.03070160037008.
8
AN ALDOSTERONE BIOSYNTHETIC DEFECT IN A SALT-LOSING DISORDER.一种失盐性疾病中的醛固酮生物合成缺陷。
J Clin Endocrinol Metab. 1964 Jul;24:669-72. doi: 10.1210/jcem-24-7-669.
9
THE EFFECT OF ANGIOTENSIN II ON THE BLOOD PRESSURE IN HUMANS WITH HYPERTENSIVE DISEASE.血管紧张素II对高血压患者血压的影响。
J Clin Invest. 1964 Apr;43(4):659-69. doi: 10.1172/JCI104951.
10
NEW PROCEDURES FOR MEASUREMENT OF HUMAN PLASMA ANGIOTENSIN AND RENIN ACTIVITY LEVELS.测量人体血浆血管紧张素和肾素活性水平的新方法。
Can Med Assoc J. 1964 Jan 25;90(4):194-201.