摘要
雄激素不敏感综合征是妇科男性假两性畸形中最常见的临床类型,但因其发病率低,发病机制复杂,使临床诊治存在很大程度上的困难和局限,且极易漏诊。近年无论在诊断技术及治疗水平方面均有长足进展。从临床特征及分级,分子机制及其与临床表型之间的联系,治疗进展及预后等方面结合国内外进展进行综述。
出处
《国外医学(妇产科学分册)》
CAS
2003年第2期73-76,共4页
Foreign Medical Sciences(Obstet Gynecol Fascicle)
参考文献20
-
1Damiani D,Mascolli MA,Almeida MJ,et al.Persistence of Mullerian remnants in complete androgen insensitivity syndrome.J Pediatr Endocrinol Metab,2002,15(9):1553-1556
-
2Sullivan DA,Sullivan BD,Evans JE,et al.Androgen deficiency,Meibomian gland dysfunction,and evaporative dry eye.Ann N Y Acad Sci,2002,966:211-222
-
3Sullivan BD,Evans JE,Cermak JM,et al.Complete androgen insensitivity syndrome:effect on human meibomian gland secretions.Arch Ophthalmol,2002,120(12):1689-1699
-
4Gottlieb B,Beitel LK,Lumbroso R,et al.Update of the androgen receptor gene mutations database.Hum Mutat,1999,14(2):103-114
-
5Chavez B,Mendez JP,Ulloa-Aguirre A,et al.Eight novel muta-tions of the androgen receptor gene in patients with androgen insensitivity syndrome.J Hum Genet,2001,46(10):560-565
-
6Ahmed SF,Cheng A,Dovey L,et al.Phenotypic features,androgen receptor binding,and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.J Clin Endocrinol Metab,2000,85(2):658-665
-
7Sammarco I,Grimaldi P,Rossi P,et al.Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome.J Clin Endocrinol Metab,2000,85(9):3256-3261
-
8Choi C,Kim KC,Kim HO,et al.Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.Arch Gynecol Obstet,2000,263(4):201-205
-
9Hellwinkel O J,Holterhus PM,Struve D,et al.A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants.J Clin Endocrinol Metab,2001,86(6):2569-2575
-
10Sultan CH,Gobinet J,Terouanne B,et al.In Process Citation.J Soc Biol,2002,196(3):223-240
同被引文献6
-
1张桂元.性别分化研究进展[J].中华内分泌代谢杂志,1996,12(2):110-113. 被引量:2
-
2Miyamoto J. Hasegawa Y. Male pseudoher maphroditism due to disorder of androgen receptor function, Nippon rinsho Japanese Journal of Clinical Medicinem, 2002,60 (2) : 367.
-
3郎景和,等主译.妇产科遗传学[M].第3版.北京:人民卫生出版社,2005.419.
-
4庄乾云,韩见知,主编.先天性泌尿生殖系统疾病[M].第1版.武汉:湖北科学技术出版社,2001.419.
-
5应向军,撒应龙,徐佑璋,乔勇,李涛.睾丸女性化综合症4例[J].现代泌尿外科杂志,2003,8(1):3-4. 被引量:6
-
6祖雄兵,齐琳,齐范,申鹏飞,张时纯.睾丸女性化综合征的诊断与治疗[J].临床泌尿外科杂志,2003,18(4):230-231. 被引量:7
引证文献3
-
1张仕岭,尹迎春,程厚文,宋光江.睾丸女性化综合征2例[J].济宁医学院学报,2005,28(3):92-92. 被引量:2
-
2陈蔚清.睾丸女性化综合征七例报告[J].中国优生与遗传杂志,2008,16(1):58-58. 被引量:2
-
3刘恒,薛承锐.雄激素不敏感综合征1例报告[J].中国中西医结合外科杂志,2008,14(1):73-73.
二级引证文献4
-
1李贵斌,陈瑜峰,赵卫斌,李龙.腹腔镜在两性畸形性腺探查中的应用[J].天津医药,2009,37(2):144-145.
-
2邵俊峰.婚前体检中发现染色体病的典型病例核型及临床分析[J].中国现代医生,2011,49(3):140-140.
-
3于春晓,高永涛,刘贤奎.4例睾丸女性化综合征的诊治并文献复习[J].医学临床研究,2011,28(8):1499-1501.
-
4王岚,谢婉莹.两性畸形的诊断及治疗(附38例报告)[J].山东医药,2012,52(41):85-86. 被引量:2
-
1张曼娜,李小英.雄激素不敏感综合征与代谢综合征[J].中国实用内科杂志,2011,31(4):269-270. 被引量:3
-
2孔桂英,潘春荣,王慧群,郑丽鑫.腹股沟疝患者中有雄激素不敏感综合症存在可能(附3例报告)[J].哈尔滨医药,2001,21(3):58-59.
-
3张伟,贾继东,陈力元.乙型肝炎抗病毒治疗2014年国内外进展[J].中华肝脏病杂志,2015,23(1):2-4. 被引量:10
-
4王昆,薛京伦.基因治疗研究的国内外进展[J].生物工程进展,1993,13(5):34-44. 被引量:1
-
5闵立贵,陈江丽,火镇福.男性假两性畸形9例报告[J].新疆医学,1999,29(1):27-27.
-
6董晓超,金杭美.完全型雄激素不敏感综合征2例报道及文献复习[J].浙江医学,2013,35(12):1225-1227. 被引量:1
-
7刘恒,薛承锐.雄激素不敏感综合征1例报告[J].中国中西医结合外科杂志,2008,14(1):73-73.
-
8刘培淑,王鸿云,孙梅红,姚随萍.一家姐妹雄激素不敏感综合征3例[J].现代妇产科进展,1997,6(4):395-396.
-
9张慧君,贺静,朱宝生.雄激素不敏感综合征的研究进展[J].中国妇幼保健,2017,32(7):1591-1593. 被引量:4
-
10王雪,王红静,杨琴.雄激素不敏感综合征一家系四例[J].中华医学遗传学杂志,2009,26(6):663-663.