• 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

先天性类脂性肾上腺增生，作为46 XY性分化障碍的一个鲜为人知的病因。

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.

作者信息

Villanueva Rodríguez Raúl, Vielma Valdez Alberto, Cassou Martinez Maricruz, Pérez Corrales Laura Leticia, de Los Santos Aguilar Ramón G, Sol Oliva Luis David

机构信息

Faculty of Medicine Universidad Nacional Autónoma de Mexico, México City 04510, Mexico.

Department of Reproductive Biology Dr. Carlos Gual Castro Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 14080, Mexico.

出版信息

Case Rep Endocrinol. 2024 Aug 31;2024:5399577. doi: 10.1155/2024/5399577. eCollection 2024.

DOI:10.1155/2024/5399577
PMID:39246559
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11380710/
Abstract

CASE

We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.

CONCLUSION

Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.

摘要

病例

我们报告一例女性患者，在新生儿期出现失盐型肾上腺皮质功能不全，并伴有46,XY性腺发育不全。基因研究发现了类固醇生成急性调节蛋白（StAR）突变。

结论

StAR突变导致蛋白功能丧失，临床上表现为先天性肾上腺皮质增生，对于46,XY核型的患者，还伴有以雄激素缺乏为特征的性腺发育不全，抗苗勒管激素无异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be1c/11380710/19a5f5fb4d81/CRIE2024-5399577.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be1c/11380710/a3608384ad77/CRIE2024-5399577.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be1c/11380710/e0133085633a/CRIE2024-5399577.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be1c/11380710/19a5f5fb4d81/CRIE2024-5399577.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be1c/11380710/a3608384ad77/CRIE2024-5399577.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be1c/11380710/e0133085633a/CRIE2024-5399577.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be1c/11380710/19a5f5fb4d81/CRIE2024-5399577.003.jpg

相似文献

1
Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.先天性类脂性肾上腺增生，作为46 XY性分化障碍的一个鲜为人知的病因。
Case Rep Endocrinol. 2024 Aug 31;2024:5399577. doi: 10.1155/2024/5399577. eCollection 2024.
2
Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.先天性脂质性肾上腺增生症（一种罕见的肾上腺皮质功能减退症和生殖器模糊类型）由类固醇生成急性调节蛋白基因的一种新突变引起。
Eur J Pediatr. 2012 May;171(5):787-93. doi: 10.1007/s00431-011-1620-5. Epub 2011 Nov 15.
3
Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.意大利婴儿中类固醇生成急性调节蛋白 (STAR) 基因突变所致脂质性先天性肾上腺皮质增生症：一种不常见的肾上腺功能不全病因。
Ital J Pediatr. 2017 Jun 20;43(1):57. doi: 10.1186/s13052-017-0371-y.
4
The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.类固醇急性调节蛋白的新型突变 p.Trp147Arg 导致伴有肾上腺功能不全和 46,XY 性发育障碍的经典脂质先天性肾上腺皮质增生症。
Horm Res Paediatr. 2013;80(3):163-9. doi: 10.1159/000354086. Epub 2013 Aug 1.
5
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.胆固醇侧链裂解酶 P450scc（CYP11A1）部分缺陷类似于非经典先天性脂肪肾上腺增生。
J Clin Endocrinol Metab. 2011 Mar;96(3):792-8. doi: 10.1210/jc.2010-1828. Epub 2010 Dec 15.
6
Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia.一名15岁46,XY女性患者的性腺组织学检查显示存在原位睾丸癌，该患者因类固醇生成急性调节蛋白过早终止导致先天性类脂质性肾上腺增生。
J Clin Endocrinol Metab. 1999 May;84(5):1628-32. doi: 10.1210/jcem.84.5.5694.
7
[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].先天性类脂质性肾上腺增生症的分子遗传学分析
Zhonghua Er Ke Za Zhi. 2004 Aug;42(8):585-8.
8
Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia.三十例先天性脂质性肾上腺增生症中国患者的临床和分子特征。
J Steroid Biochem Mol Biol. 2021 Feb;206:105788. doi: 10.1016/j.jsbmb.2020.105788. Epub 2020 Nov 20.
9
Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.伴有新型类固醇急性调节蛋白（StAR）基因突变的类脂性先天性肾上腺皮质增生症
Clin Med Insights Endocrinol Diabetes. 2023 May 26;16:11795514231167059. doi: 10.1177/11795514231167059. eCollection 2023.
10
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.STAR剪接突变导致类脂质性先天性肾上腺皮质增生的严重表型：来自一个新的剪接突变及已报道病例综述的见解
Clin Endocrinol (Oxf). 2014 Feb;80(2):191-9. doi: 10.1111/cen.12293. Epub 2013 Aug 17.

本文引用的文献

1
Disorders of Sex Development of Adrenal Origin.肾上腺源性性发育障碍。
Front Endocrinol (Lausanne). 2021 Dec 20;12:770782. doi: 10.3389/fendo.2021.770782. eCollection 2021.
2
STAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency.STAR 突变导致非经典脂质肾上腺增生表现为家族性糖皮质激素缺乏。
Mol Med Rep. 2020 Aug;22(2):681-686. doi: 10.3892/mmr.2020.11140. Epub 2020 May 7.
3
Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach.
性发育障碍：诊断方法的现状与进展
Curr Urol. 2020 Jan;13(4):169-178. doi: 10.1159/000499274. Epub 2020 Jan 7.
4
Steroidogenesis: Unanswered Questions.类固醇生成：未解之谜。
Trends Endocrinol Metab. 2017 Nov;28(11):771-793. doi: 10.1016/j.tem.2017.09.002. Epub 2017 Oct 12.
5
Mitochondrial cholesterol import.线粒体胆固醇摄取。
Biochim Biophys Acta Mol Cell Biol Lipids. 2017 Jan;1862(1):90-101. doi: 10.1016/j.bbalip.2016.08.012. Epub 2016 Aug 23.
6
Role of the steroidogenic acute regulatory protein in health and disease.类固醇生成急性调节蛋白在健康与疾病中的作用。
Endocrine. 2016 Jan;51(1):7-21. doi: 10.1007/s12020-015-0715-6. Epub 2015 Aug 14.
7
Mitochondrial cholesterol: mechanisms of import and effects on mitochondrial function.线粒体胆固醇：导入机制及其对线粒体功能的影响
J Bioenerg Biomembr. 2016 Apr;48(2):137-51. doi: 10.1007/s10863-014-9592-6. Epub 2014 Nov 26.
8
Give lipids a START: the StAR-related lipid transfer (START) domain in mammals.赋予脂质一个起始点：哺乳动物中与类固醇生成急性调节蛋白（StAR）相关的脂质转移（START）结构域。
J Cell Sci. 2005 Jul 1;118(Pt 13):2791-801. doi: 10.1242/jcs.02485.
9
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein.由类固醇生成急性调节蛋白基因中的一种新型剪接突变引起的先天性类脂性肾上腺增生。
J Clin Endocrinol Metab. 2004 Feb;89(2):946-51. doi: 10.1210/jc.2003-030345.
10
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.先天性类脂质性肾上腺增生症的病理生理学与遗传学
N Engl J Med. 1996 Dec 19;335(25):1870-8. doi: 10.1056/NEJM199612193352503.