• 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

Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation.

作者信息

Maione Luigi, Brailly-Tabard Sylvie, Nevoux Jérôme, Bouligand Jérôme, Young Jacques

机构信息

Department of Reproductive Endocrinology, Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, Le Kremlin Bicêtre, France.

Department of Molecular Genetics and Hormonology, Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, Le Kremlin Bicêtre, France.

出版信息

Clin Endocrinol (Oxf). 2016 Dec;85(6):988-989. doi: 10.1111/cen.13231. Epub 2016 Oct 3.

DOI:10.1111/cen.13231
PMID:27616149
Abstract
摘要

相似文献

1
Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation.一名因SOX10突变患有卡尔曼综合征的男性先天性低促性腺激素性性腺功能减退症的逆转。
Clin Endocrinol (Oxf). 2016 Dec;85(6):988-989. doi: 10.1111/cen.13231. Epub 2016 Oct 3.
2
Reversal of idiopathic hypogonadotropic hypogonadism.特发性低促性腺激素性性腺功能减退的逆转。
N Engl J Med. 2007 Aug 30;357(9):863-73. doi: 10.1056/NEJMoa066494.
3
[Kallmann syndrome with deafness caused by SOX10 mutation: Advances in research].[由SOX10突变引起的伴有耳聋的卡尔曼综合征:研究进展]
Zhonghua Nan Ke Xue. 2017 Sep;23(9):838-841.
4
Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients.中国患者男性部分先天性低促性腺激素性性腺功能减退的促性腺激素治疗
Asian J Androl. 2020 Jul-Aug;22(4):390-395. doi: 10.4103/aja.aja_88_19.
5
Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome.用人绒毛膜促性腺激素(hCG)诱导青春期,随后使卡尔曼综合征中的低促性腺激素性性腺功能减退得到逆转。
Endokrynol Pol. 2017;68(6):692-696. doi: 10.5603/EP.a2017.0059. Epub 2017 Oct 12.
6
Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients.先天性低促性腺激素性性腺功能减退/卡尔曼综合征男性患者的胰岛素样肽3(INSL3)及不同激素治疗方式的效果:一项针对281例患者的单中心研究
J Clin Endocrinol Metab. 2014 Feb;99(2):E268-75. doi: 10.1210/jc.2013-2288. Epub 2013 Nov 15.
7
Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome.在中国 Kallmann 综合征患者中鉴定的 SOX10 突变的功能分析。
Gene. 2019 Jun 20;702:99-106. doi: 10.1016/j.gene.2019.03.039. Epub 2019 Mar 23.
8
Kallmann Syndrome Due to Heterozygous Mutation in Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.Kallmann 综合征伴发Ⅱ型 Waardenburg 综合征:病例报告及文献复习。
Front Endocrinol (Lausanne). 2021 Feb 1;11:592831. doi: 10.3389/fendo.2020.592831. eCollection 2020.
9
De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism.一名患有卡尔曼综合征、耳聋、虹膜色素减退和甲状腺功能亢进症患者的SOX10基因新发无义突变
Ann Clin Lab Sci. 2018 Mar;48(2):248-252.
10
Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by gene deletion.2 型 Waardenburg 综合征伴促性腺激素低下性性腺功能减退症一例的诊断及基因分析:基因缺失所致。
Yi Chuan. 2022 Dec 20;44(12):1158-1166. doi: 10.16288/j.yczz.22-161.

引用本文的文献

1
Genetic and phenotypic differences between sexes in congenital hypogonadotropic hypogonadism (CHH): Large cohort analysis from a single tertiary centre.先天性低促性腺激素性性腺功能减退症(CHH)中性别间的遗传和表型差异:来自单一三级中心的大型队列分析。
Front Endocrinol (Lausanne). 2022 Dec 2;13:965074. doi: 10.3389/fendo.2022.965074. eCollection 2022.
2
Reproductive Phenotypes in Men With Acquired or Congenital Hypogonadotropic Hypogonadism: A Comparative Study.男性获得性或先天性促性腺激素低下性性腺功能减退症的生殖表型:一项比较研究。
J Clin Endocrinol Metab. 2022 Jun 16;107(7):e2812-e2824. doi: 10.1210/clinem/dgac194.
3
[Kalmann syndrome in monozygous twins as an isolated manifestation of the SOX10 gene defect].
[单卵双胞胎中的卡尔曼综合征作为SOX10基因缺陷的孤立表现]
Probl Endokrinol (Mosk). 2021 Sep 7;67(5):43-47. doi: 10.14341/probl12789.
4
Mutation Screening for 117 Patients with Kallmann Syndrome.117例卡尔曼综合征患者的突变筛查
J Endocr Soc. 2021 Mar 30;5(7):bvab056. doi: 10.1210/jendso/bvab056. eCollection 2021 Jul 1.
5
Kallmann Syndrome Due to Heterozygous Mutation in Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.Kallmann 综合征伴发Ⅱ型 Waardenburg 综合征:病例报告及文献复习。
Front Endocrinol (Lausanne). 2021 Feb 1;11:592831. doi: 10.3389/fendo.2020.592831. eCollection 2020.
6
Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in .靶向二代测序鉴定一个耳聋家系的不同致聋原因和. p.R161C 突变的可变临床表现
Neural Plast. 2020 Aug 28;2020:8860837. doi: 10.1155/2020/8860837. eCollection 2020.
7
Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?患者青春期延迟和先天性低促性腺激素性性腺功能减退症的遗传评估:是否值得考虑?
Front Endocrinol (Lausanne). 2020 May 19;11:253. doi: 10.3389/fendo.2020.00253. eCollection 2020.
8
A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures.男性骨质疏松症病例:一名37岁男性患有多发性椎体压缩骨折。
Case Rep Endocrinol. 2017;2017:6328524. doi: 10.1155/2017/6328524. Epub 2017 Jul 16.