一名46,XX先天性肾上腺皮质增生症患者的意外发现。 - Suppr

An unexpected finding in a 46,XX patient with congenital adrenal hyperplasia.

作者信息

Salle Laurence, Lachâtre Denis, Galinat Sophie

机构信息

Department of Endocrinology, Diabetology and Nutrition, University Hospital of Limoges, 2, avenue Martin Luther King, 87042 Limoges, France.

Department of Radiology, University Hospital of Limoges, 2, avenue Martin Luther King, 87042 Limoges, France.

出版信息

J Gynecol Obstet Hum Reprod. 2021 Jun;50(6):102113. doi: 10.1016/j.jogoh.2021.102113. Epub 2021 Mar 18.

DOI:10.1016/j.jogoh.2021.102113

PMID:33744520

Abstract

摘要

相似文献

An unexpected finding in a 46,XX patient with congenital adrenal hyperplasia.一名46,XX先天性肾上腺皮质增生症患者的意外发现。

J Gynecol Obstet Hum Reprod. 2021 Jun;50(6):102113. doi: 10.1016/j.jogoh.2021.102113. Epub 2021 Mar 18.

Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene.由于肾上腺21-羟化酶基因异常剪接导致的迟发性先天性肾上腺增生相关的多发肿瘤。

Endocr Pract. 2002 Nov-Dec;8(6):470-3. doi: 10.4158/EP.8.6.470.

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.新生儿筛查检出的台湾地区先天性肾上腺皮质增生症 21-羟化酶缺陷患儿的临床特征。

J Formos Med Assoc. 2018 Feb;117(2):126-131. doi: 10.1016/j.jfma.2017.03.008. Epub 2017 Apr 6.

[Diagnosis of heterozygote carrier of mutant gene of 21-hydroxylase].

Akush Ginekol (Mosk). 1995(1):21-3.

Androglottia in a young female adolescent with congenital adrenal hyperplasia and 21-hydroxylase deficiency.一名患有先天性肾上腺皮质增生症和21-羟化酶缺乏症的年轻女性青少年出现男性化嗓音。

J Pediatr Endocrinol Metab. 2000 Jul-Aug;13(7):959-62. doi: 10.1515/jpem.2000.13.7.959.

Comments to "a rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency".对《一种用于21-羟化酶缺乏所致先天性肾上腺皮质增生症分子诊断的合理、非放射性策略》的评论

Gene. 2014 Jan 25;534(2):451-2. doi: 10.1016/j.gene.2013.09.109. Epub 2013 Oct 4.

Comments to “A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency”.对“一种用于21-羟化酶缺乏所致先天性肾上腺皮质增生症分子诊断的合理、非放射性策略”的评论

Gene. 2014 Jan 25;534(2):449-450. doi: 10.1016/j.gene.2013.09.035.

[Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis].[因21-羟化酶缺乏所致先天性肾上腺皮质增生症伴红细胞增多症]

Med Clin (Barc). 2008 Nov 8;131(16):638-9. doi: 10.1157/13127927.

[Usefulness of molecular analysis in the differential diagnosis of congenital 21-hidroxylase deficiency detected in neonatal screening].[分子分析在新生儿筛查中检测到的先天性21-羟化酶缺乏症鉴别诊断中的应用价值]

Med Clin (Barc). 2011 Mar 19;136(7):313-4. doi: 10.1016/j.medcli.2009.06.008. Epub 2009 Sep 18.

[Adrenal hyperplasia as a result of 21-hydroxylase deficiency: prenatal diagnosis and treatment. Neonatal diagnosis].[21-羟化酶缺乏所致肾上腺增生：产前诊断与治疗。新生儿诊断]

Rev Med Liege. 1986 Jan 15;41(2):37-44.

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

An unexpected finding in a 46,XX patient with congenital adrenal hyperplasia.

作者信息

机构信息

出版信息

相似文献

文献检索

文件翻译

深度研究

Suppr 超能文献

相似文献