• 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

患有类固醇代谢酶缺乏症的XY女性。简要综述。

XY females with enzyme deficiencies of steroid metabolism. A brief review.

作者信息

Madan K, Schoemaker J

出版信息

Hum Genet. 1980;53(3):291-5. doi: 10.1007/BF00287042.

DOI:10.1007/BF00287042
PMID:6989745
Abstract

The literature on XY females with enzyme deficiencies (17 alpha-hydroxylase, 17 beta-reductase and 17, 20-desmolase) is reviewed. The main features of these individuals are briefly compared with those of XY females with pure gonadal dysgenesis and with testicular feminization.

摘要

本文综述了有关患有酶缺乏症（17α-羟化酶、17β-还原酶和17,20-裂解酶）的XY女性的文献。简要比较了这些个体与患有单纯性腺发育不全的XY女性以及雄激素不敏感综合征患者的主要特征。

相似文献

1
XY females with enzyme deficiencies of steroid metabolism. A brief review.患有类固醇代谢酶缺乏症的XY女性。简要综述。
Hum Genet. 1980;53(3):291-5. doi: 10.1007/BF00287042.
2
Management of phenotypic female patients with an XY karyotype.对具有XY核型的表型女性患者的管理。
J Reprod Med. 1986 Jul;31(7):611-5.
3
Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s).XX和XY性腺发育不全患者成人身高的比较：对Y染色体特异性生长基因的支持。
J Med Genet. 1992 Aug;29(8):539-41. doi: 10.1136/jmg.29.8.539.
4
Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes.性腺发育不全在46, XY个体性腺母细胞瘤发生中的作用。鲁汶大学对46, XY单纯性腺发育不全和睾丸女性化综合征的研究经验。
Genet Couns. 1991;2(1):9-16.
5
The prevalence of 5 alpha-reductase deficiency in children with ambiguous genitalia in the Dominican Republic.多米尼加共和国生殖器模糊儿童中5α-还原酶缺乏症的患病率。
J Urol. 1986 Oct;136(4):867-73. doi: 10.1016/s0022-5347(17)45108-1.
6
A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures.一种新的46，XY性腺发育不全伴外胚层和中胚层结构异常的家族综合征。
J Pediatr. 1980 Oct;97(4):586-90. doi: 10.1016/s0022-3476(80)80013-8.
7
The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.伴有高发性性腺生殖细胞瘤的X连锁隐性XY性腺发育不全：临床与遗传学研究
J Med Genet. 1983 Aug;20(4):264-70. doi: 10.1136/jmg.20.4.264.
8
XY gonadal dysgenesis: aberrant testicular differentiation in the presence of H-Y antigen.XY性腺发育不全：存在H-Y抗原时睾丸分化异常。
Obstet Gynecol. 1981 Jul;58(1):17-25.
9
[Swyer syndrome. Apropos of a new case of pure gonadal dysgenesis with Karyotype 46 XY].[斯维尔综合征。关于一例核型为46，XY的单纯性腺发育不全新病例]
J Gynecol Obstet Biol Reprod (Paris). 1984;13(2):151-6.
10
[A familial XY gonadal dysgenesis causing high incidence of embryonic gonadal tumors- a report of the fourth dysgerminoma in sibling suffering from 46, XY gonadal dysgenesis (author's transl)].[一种导致胚胎性腺肿瘤高发病率的家族性XY性腺发育不全——1例46, XY性腺发育不全同胞中发生第四例无性细胞瘤的报告（作者译）]
Zhonghua Zhong Liu Za Zhi. 1981 May;3(2):89-90.

本文引用的文献

1
The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase.伴有3β-羟类固醇脱氢酶缺乏的肾上腺生殖器综合征
J Clin Invest. 1962 Nov;41(11):2086-92. doi: 10.1172/JCI104666.
2
Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome.
N Engl J Med. 1967 Sep 28;277(13):673-7. doi: 10.1056/NEJM196709282771302.
3
Prognosis, malignancy, and curability of the germ-cell tumor occurring in dysgenetic gonads.发育不全性腺中发生的生殖细胞肿瘤的预后、恶性程度及可治愈性。
Am J Obstet Gynecol. 1970 Nov 15;108(6):894-900. doi: 10.1016/0002-9378(70)90331-5.
4
Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency.
J Clin Invest. 1970 Oct;49(10):1930-41. doi: 10.1172/JCI106412.
5
[17-Hydroxylase deficiency. Apropos of a case].
Ann Endocrinol (Paris). 1971 Jul-Aug;52(4):574-82.
6
[Arterial hypertension, hypokalemic alkalosis and male pseudohermaphroditism caused by 17 alpha-hydroxylase deficiency].[17α-羟化酶缺乏所致的动脉高血压、低钾性碱中毒及男性假两性畸形]
Schweiz Med Wochenschr. 1971 Jan 16;101(2):38-43.
7
Permeability of membranes to the Müllerian-inhibiting substance synthesized by the human fetal testis in vitro: a clue to its biochemical nature.体外培养的人胎儿睾丸合成的苗勒管抑制物质对膜的通透性：揭示其生化性质的线索
J Clin Endocrinol Metab. 1972 Feb;34(2):265-70. doi: 10.1210/jcem-34-2-265.
8
A new male pseudo-hermaphroditism associated with hypertension due to a block of 17 -hydroxylation.一种与17α-羟化受阻所致高血压相关的新型男性假两性畸形。
J Clin Endocrinol Metab. 1972 Jul;35(1):67-72. doi: 10.1210/jcem-35-1-67.
9
In vitro synthesis of müllerian-inhibiting hormone by seminiferous tubules isolated from the calf fetal testis.从小牛胎儿睾丸分离的生精小管体外合成苗勒管抑制激素。
Endocrinology. 1973 Oct;93(4):829-34. doi: 10.1210/endo-93-4-829.
10
Primary amenorrhoea with hypertension due to 17-hydroxylase deficiency. Therapy with dexamethasone and ethinyloestradiol.17-羟化酶缺乏所致原发性闭经伴高血压。地塞米松和炔雌醇治疗。
Acta Med Scand. 1973 Jun;193(6):565-71.