• 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

X-ring Turner's syndrome with combined immunodeficiency and selective gonadotropin defect.

作者信息

Donti E, Nicoletti I, Venti G, Filipponi P, Gerli R, Spinozzi F, Cernetti C, Rambotti P

机构信息

Istituto di Clinica Medical, Università di Perugia, Italy.

出版信息

J Endocrinol Invest. 1989 Apr;12(4):257-63. doi: 10.1007/BF03349979.

DOI:10.1007/BF03349979
PMID:2745937
Abstract

A rare association of chromosomal, immunological and endocrine defects is described in a young woman with short stature, recurrent pulmonary infections and primary amenorrhea. Cytogenetic studies showed a 45, X karyotype in 65% of peripheral blood lymphocytes and 46,Xr(X) (p22q27) karyotype in the remaining 35%. Severe immunodeficiency was revealed by phenotypical and functional studies and a selective gonadotropin defect was disclosed by endocrinological investigations. An attempt is made to explain the coexistence of the three abnormal pictures.

摘要

相似文献

1
X-ring Turner's syndrome with combined immunodeficiency and selective gonadotropin defect.
J Endocrinol Invest. 1989 Apr;12(4):257-63. doi: 10.1007/BF03349979.
2
Common variable immunodeficiency in association with Turner's syndrome.普通变异型免疫缺陷合并特纳综合征
J Clin Lab Immunol. 1990 Jul;32(3):143-6.
3
[A report of 2 cases of Turner's syndrome with a ring X chromosome].[两例伴有X染色体环状结构的特纳综合征报告]
Minerva Pediatr. 1991 Sep;43(9):605-9.
4
Pituitary tumor and low gonadotropins in a patient with Turner's syndrome.
J La State Med Soc. 1995 Dec;147(12):540-3.
5
[Y chromosome structural abnormalities and Turner's syndrome].[Y染色体结构异常与特纳综合征]
Gynecol Obstet Fertil. 2009 Jun;37(6):511-8. doi: 10.1016/j.gyobfe.2009.04.018. Epub 2009 May 22.
6
Association of Marfan's syndrome and Turner's syndrome.马方综合征与特纳综合征的关联。
J Pediatr Endocrinol Metab. 2001 Nov-Dec;14(9):1661-3. doi: 10.1515/jpem.2001.14.9.1661.
7
An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report.一名无特纳综合征明显躯体特征的女性患者，其X染色体呈等臂双着丝粒且伴有性腺发育不全。病例报告。
J Formos Med Assoc. 2015 Jan;114(1):77-80. doi: 10.1016/j.jfma.2011.05.011. Epub 2012 May 2.
8
[Turner's syndrome in mother and daughter].[母女患特纳综合征]
Ned Tijdschr Geneeskd. 2004 Jun 12;148(24):1208-10.
9
Cytogenetic study of primary amenorrhoea.原发性闭经的细胞遗传学研究。
J Indian Med Assoc. 1995 Aug;93(8):291-2.
10
Endometriosis in a woman with mosaic Turner's syndrome: case report.
Int J Fertil Womens Med. 2006 Jul-Aug;51(4):160-2.

引用本文的文献

1
Isochromosome Mosaic Turner Syndrome With Concomitant Hypopituitarism and Multiple Meningiomas.等臂染色体镶嵌型特纳综合征伴垂体功能减退和多发脑膜瘤。
Cureus. 2024 Aug 9;16(8):e66548. doi: 10.7759/cureus.66548. eCollection 2024 Aug.
2
Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.一名核型为46,X,Yp+的儿童出现性反转：支持位于Xp远端的一个或多个基因参与睾丸形成的存在。
J Med Genet. 1992 Apr;29(4):226-30. doi: 10.1136/jmg.29.4.226.

本文引用的文献

1
Serum immunoglobulins and lymphocyte subpopulations derangement in Turner's syndrome.特纳综合征患者血清免疫球蛋白及淋巴细胞亚群紊乱
J Immunogenet. 1981 Oct;8(5):337-44. doi: 10.1111/j.1744-313x.1981.tb00938.x.
2
Immune function in patients with chromosome deletions.染色体缺失患者的免疫功能。
Clin Exp Immunol. 1982 Apr;48(1):179-85.
3
Turner syndrome patients with a ring X chromosome.
Clin Genet. 1983 Jun;23(6):447-53. doi: 10.1111/j.1399-0004.1983.tb01980.x.
4
Adenosine deaminase, nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase activity in normal lymphocyte subpopulations.正常淋巴细胞亚群中的腺苷脱氨酶、核苷磷酸化酶及次黄嘌呤-鸟嘌呤磷酸核糖转移酶活性
Anticancer Res. 1982 May-Jun;2(3):125-8.
5
Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases.嗅觉缺失伴低促性腺激素性性腺功能减退综合征（卡尔曼综合征）：23例临床及实验室研究
Am J Med. 1982 Oct;73(4):506-19. doi: 10.1016/0002-9343(82)90329-1.
6
The association of serum IgM and IgG levels with the number of X chromosomes in patients with abnormal number of X chromosomes.X染色体数目异常患者血清IgM和IgG水平与X染色体数目的相关性。
J Immunogenet. 1982 Jun;9(3):155-63. doi: 10.1111/j.1744-313x.1982.tb00786.x.
7
Effect of estrogens and progesterone on gonadotropin and prolactin release in a patient with androgen insensitivity.雌激素和孕酮对一名雄激素不敏感患者促性腺激素和催乳素释放的影响。
Obstet Gynecol. 1981 Oct;58(4):527-32.
8
Progesterone positive feedback on gonadotropin release in estrogen-primed postmenopausal women: central nervous system and pituitary as possible sites of action.绝经后女性雌激素预处理后孕酮对促性腺激素释放的正反馈作用：中枢神经系统和垂体可能为作用位点。
J Clin Endocrinol Metab. 1981 Jul;53(1):135-8. doi: 10.1210/jcem-53-1-135.
9
Monoclonal antibody-defined T-cell phenotypes and phytohemagglutinin reactivity of E-rosette-forming circulating lymphocytes from untreated chronic myelocytic leukemia patients.未经治疗的慢性粒细胞白血病患者循环中形成E花环的淋巴细胞的单克隆抗体定义的T细胞表型和植物血凝素反应性
Cancer. 1984 Feb 15;53(4):913-6. doi: 10.1002/1097-0142(19840215)53:4<913::aid-cncr2820530416>3.0.co;2-m.
10
Immunoglobulin levels, T-cell markers, mitogen responsiveness and thymic hormone activity in Turner's syndrome.特纳综合征患者的免疫球蛋白水平、T细胞标志物、丝裂原反应性及胸腺激素活性
Thymus. 1983 Mar;5(2):61-6.