摘要
患者女，15岁，因体毛增多、嗓音变粗2年，停经3月于2007年11月人院。患者2年前开始出现体毛增多、嗓音变粗，未重视和治疗。3月前初潮，后停经。门诊行染色体检查：染色体数46，XX，未见畸变。行子宫及双侧附件、双侧肾脏和肾上腺B超检查均未见异常。骨龄检查正常。
出处
《中国糖尿病杂志》
CAS
CSCD
北大核心
2010年第5期397-397,共1页
Chinese Journal of Diabetes
参考文献3
-
1庞璨,黄知敏,朱慧丽,余秋琼,严晋华,廖志红,胡国亮,翁建平.中国人A型胰岛素抵抗家系与胰岛素受体基因突变研究[J].中华内分泌代谢杂志,2005,21(3):237-239. 被引量：17
-
2金世鑫.严重胰岛素抵抗综合征鉴别//金世鑫.内分泌代谢病诊治精要.郑州:郑州大学出版社,2001:130-131.
-
3Rique S,Ibá(n)ez L,Marcos MV,et al.Effects of metformin on androgens and insulin concentrations in type A insulin resistance syndrome.Diabetologia,2000,43:385-386.
二级参考文献13
-
1Moller DE, Yokota A, Caro JF, et al. Tissue-specific expression of two alternatively spliced insulin receptor mRNAs in man. Mol Endocrinol, 1989,3:1263-1269.
-
2Yoshimasa Y, Seino S, Whittaker J, et al. Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. Science, 1988,240:784-787.
-
3Kadowaki T, Bevins CL, Cama A, et al. Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. Science, 1988,240:787-790.
-
4Seino S, Seino M, Bell GI. Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction. Diabetes, 1990,39:123-128.
-
5Whitehead JP, Soons MA, Jackson R, et al. Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. Diabetes, 1998,47:1362-1364.
-
6Longo N, Wang Y, Smith SA, et al. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet, 2002,11:1465-1475.
-
7Moller DE, Cohen O, Yamaguchi Y, et al. Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. Diabetes, 1994,43:247-255.
-
8Kadowaki T, Kadowaki H, Rechler MM, et al. Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J Clin Invest, 1990,86:254-264.
-
9Kusari J, Takata Y, Hatada E, et al. Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. J Biol Chem, 1991,266:5260-5267.
-
10Ullrich A, Bell JR, Chen EY, et al. Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature, 1985,313:756-761.
共引文献16
-
1杨文英.硕果累累,开辟新径——中国糖尿病临床与基础研究进展回顾[J].中华糖尿病杂志,2009,1(5). 被引量：4
-
2贾伟平,王从容.中国人单基因突变糖尿病及肥胖病的研究[J].国际内分泌代谢杂志,2006,26(3):145-148.
-
3万慧,贾伟平.胰岛素受体基因突变与Rabson-Mendenhall综合征[J].中华内分泌代谢杂志,2007,23(1):88-91. 被引量：5
-
4杨丽,吉中国.胰岛素受体基因多态性与脑血管病关系的研究进展[J].山东医药,2007,47(23):112-113.
-
5蒋怡然,王卫庆.胰岛素受体基因突变与遗传性胰岛素抵抗综合征[J].国际内分泌代谢杂志,2009,29(2):117-119. 被引量：1
-
6徐曜,付建芳,姬秋和.A型胰岛素抵抗综合征与胰岛素受体[J].中华实用诊断与治疗杂志,2010,24(2):105-108. 被引量：8
-
7翁建平.对糖尿病流行病学、循证医学及基础研究的探索[J].中山大学学报（医学科学版）,2010,31(2):166-171. 被引量：146
-
8黄知敏,李延兵,陈蔼玲,万学思,姚斌,肖海鹏.A型胰岛素抵抗综合征胰岛素分泌变化的七年随访[J].中华内科杂志,2011,50(1):10-13. 被引量：4
-
9翁建平.中国单基因糖尿病的研究现状与展望：机遇与挑战，传承与创新[J].中华糖尿病杂志,2014,6(1):1-4. 被引量：8
-
10梁丽,刘赫.A型胰岛素抵抗综合征及其临床处理[J].实用糖尿病杂志,2014,10(4):8-9. 被引量：1
同被引文献18
-
1庞璨,黄知敏,朱慧丽,余秋琼,严晋华,廖志红,胡国亮,翁建平.中国人A型胰岛素抵抗家系与胰岛素受体基因突变研究[J].中华内分泌代谢杂志,2005,21(3):237-239. 被引量：17
-
2Flier JS,Kahn CR,Roth J. Roceptor antibodies and the mecha-nism of insulin resistance. N Engl J Med 1979 ;300:413-419.
-
3Kahn CR. Insulin action diabetogenes,and the callse of typeII diabetes (Banting lecture). Diabetes 1994 ;45 : 1066-1084.
-
4Globerman H,Kamieli E. Analysis of the insulin receptor genetyrosine kinase domain in obese patients with hyperan drogensim,insu-lin resistance and acanthosis nigricans (type c insulin resistance). Int JObes Relat Metab Disoid (Abstract) 1998;22(4) :349-353.
-
5翁建平.全国首例A型胰岛素与抵抗综合征被发现.医药经济报2006.
-
6Goldfine AB,Moses A,Syndrome of extreme insulin resist-ance. lu: Kahn CR,et al (eds). Joslin、Diabetes Mellitus. 14th ed.philedelphia;lippincott williams & wilkins 2005:493-505.
-
7Mosthat L,Grako K,Dull TJ,et al. Functionally distinct insu-lin receptors generated by. tissue-specific altertive splieing, EMBO J1990;9;2409-2413.
-
8Wertheimer E,Lu SP,Backeljaaw PF,et al. Homozygous de-letion of the human insulin receptor gene. Nat Genel 1993 ;5:71-73.
-
9Kadomaki T, Kodowaki H, Accli D,et al. Substitution of ly-sine for asparagines at position 15 in the alpha-subunit of the human in-sulin receptor a mutation that impairs transport of insulin to the cellsurface and decreases the affinity of insulin binding J Biol chem1990;265:19143-19150.
-
10Yoshimasa Y,Panl JI,Whittaker J,et al. Effects of aminoacidreplacements within the tetrabasic deavage site on the processing of thehuman insulin receptor precursor expressed in Chinese hamste ovarycells. J Bio chem 1990;265 : 17230-17237.
-
1赵文蕊,杨国庆.A型胰岛素抵抗综合征诊疗分析[J].实用医学杂志,2013,29(24):4131-4132.
-
2周世梅.女孩体毛多怎么办[J].家庭医药（就医选药）,2003(1):2-2.
-
3王庭俊,吴可贵.病例120:高血压、低血压、体毛脱落[J].中华高血压杂志,2012,20(3):207-207.
-
4王庭俊,吴可贵.病例120:高血压、低血压、体毛脱落[J].中华高血压杂志,2012,20(5):490-494.
-
5王冠怡,许岚.A型胰岛素抵抗综合征发病机制的研究进展[J].国际妇产科学杂志,2012,39(5):495-498. 被引量：3
-
6徐曜,付建芳,姬秋和.A型胰岛素抵抗综合征与胰岛素受体[J].中华实用诊断与治疗杂志,2010,24(2):105-108. 被引量：8
-
7黄知敏,李延兵,陈蔼玲,万学思,姚斌,肖海鹏.A型胰岛素抵抗综合征胰岛素分泌变化的七年随访[J].中华内科杂志,2011,50(1):10-13. 被引量：4
-
8杉杉（摘译）.初潮较早与哮喘风险较大有关[J].中华医学信息导报,2010,25(21):10-10.
-
9田伟.肝母细胞瘤致男童性早熟一例[J].中华放射学杂志,2002,36(8):763-764. 被引量：3
-
10初潮早与哮喘风险升高相关[J].浙江中西医结合杂志,2010,20(11):694-694.
