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17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.

作者信息

Yanase T, Simpson E R, Waterman M R

机构信息

Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235.

出版信息

Endocr Rev. 1991 Feb;12(1):91-108. doi: 10.1210/edrv-12-1-91.

DOI:10.1210/edrv-12-1-91
PMID:2026124
Abstract
摘要

相似文献

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17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.17α-羟化酶/17,20-裂解酶缺乏症：从临床研究到分子定义
Endocr Rev. 1991 Feb;12(1):91-108. doi: 10.1210/edrv-12-1-91.
2
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.由于细胞色素P45017α（CYP17）基因N端区域7个碱基对重复导致的联合17α-羟化酶/17,20-裂解酶缺乏症。
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3
Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
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Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.两个门诺派家族中联合 17α-羟化酶/17,20-裂解酶缺乏症的共同分子基础鉴定
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5
17 alpha-Hydroxylase/17,20-lyase defects.17α-羟化酶/17,20-裂解酶缺陷
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6
Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.正常和突变型人甾体17α-羟化酶基因的结构特征：17α-羟化酶/17,20裂解酶联合缺乏症一个实例的分子基础
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7
Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.
Mol Endocrinol. 1991 Dec;5(12):2037-45. doi: 10.1210/mend-5-12-2037.
8
Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.细胞色素P450 17α-羟化酶基因中杂合终止密码子导致的联合17α-羟化酶/17,20-裂解酶缺乏症。
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Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.
J Clin Endocrinol Metab. 1996 Jan;81(1):264-8. doi: 10.1210/jcem.81.1.8550762.
10
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.由于17α-羟化酶细胞色素P-450 N端区域的一个终止密码子导致的联合17α-羟化酶/17,20-裂解酶缺乏症。
Mol Cell Endocrinol. 1988 Oct;59(3):249-53. doi: 10.1016/0303-7207(88)90110-4.

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A homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia.在一个先天性肾上腺皮质增生症家族中，一个纯合子外显子变异导致了选择性剪接、移码和截短。
Heliyon. 2024 Jul 23;10(15):e35058. doi: 10.1016/j.heliyon.2024.e35058. eCollection 2024 Aug 15.
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Rare secondary hypertension caused by compound heterozygous mutations: a case report.
复合杂合突变导致的罕见继发性高血压：一例报告
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Seminoma in a 46, XY patient with 17α-hydroxylase deficiency.一名患有17α-羟化酶缺乏症的46，XY男性患者的精原细胞瘤。
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17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.45 岁时被诊断为 17α-羟化酶/17,20-裂合酶缺乏症伴醛固酮增多症。
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A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping.两名沙特兄弟姐妹核型不同的17α-羟化酶缺乏症病例报告
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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。
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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.
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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。
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Dexamethasone application for fertilisation in non-classic 17-hydroxylase/17,20-lyase-deficient women.地塞米松在非经典 17-羟化酶/17,20-裂合酶缺陷女性中的促受精作用。
Front Endocrinol (Lausanne). 2022 Oct 28;13:971993. doi: 10.3389/fendo.2022.971993. eCollection 2022.